Metabolic Disorders

Genetic testing can help uncover the cause of persistent, often debilitating, undiagnosed symptoms in patients suffering from suspected metabolic disorders. Our Bio/Databank contains extensive information on variants in over 1,250 metabolic -disease- related genes. Our extensive experience in metabolic diseases can help you diagnose and manage your patients’ metabolic disorder quickly and more precisely. Genetic testing can provide new insights into treatment options and predict the likelihood of passing the inherited condition onto children. It can also help identify other affected and non-affected family members.

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CentoICU^®

CentoICU^® is a comprehensive NGS panel that includes genes explicitly selected for the genetic testing of critically ill newborns and children under 24 months in intensive care units (ICU). It is designed to address multiple genetic conditions that may be present in the newborn or early childhood period, with many having overlapping phenotypes and immediate implications for treatment initiation. It allows clinicians to utilize just one single test to provide an accurate diagnosis of newborn-related diseases using dried blood spots.

No. of genes:	856
TAT:	15 business days
Coverage:	≥99.00% ≥20x

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Gene	OMIM (Gene)	Associated diseases (OMIM)	Inheritance
AARS1	601065	Trichothiodystrophy 8, nonphotosensitive	AR
		Charcot-Marie-Tooth disease, axonal, type 2N	AD
		Developmental and epileptic encephalopathy 29	AR
		?Leukoencephalopathy, hereditary diffuse, with spheroids 2	AD
AARS2	612035	Combined oxidative phosphorylation deficiency 8	AR
AARS2	612035	Leukoencephalopathy, progressive, with ovarian failure	AR
AASS	605113	Hyperlysinemia	AR
ABAT	137150	GABA-transaminase deficiency	AR
ABCA12	607800	Ichthyosis, congenital, autosomal recessive 4A	AR
ABCA12	607800	Ichthyosis, congenital, autosomal recessive 4B (harlequin)	AR
ABCA3	601615	Surfactant metabolism dysfunction, pulmonary, 3	AR
ABCB11	603201	Cholestasis, benign recurrent intrahepatic, 2	AR
ABCB11	603201	Cholestasis, progressive familial intrahepatic 2	AR
ABCC8	600509	Diabetes mellitus, transient neonatal 2	-
		Diabetes mellitus, noninsulin-dependent	AD
		Hyperinsulinemic hypoglycemia, familial, 1	AD, AR
		Hypoglycemia of infancy, leucine-sensitive	AD
		Diabetes mellitus, permanent neonatal 3, with or without neurologic features	AD, AR
ABCD1	300371	Adrenoleukodystrophy	XLR
ABCD1	300371	Adrenomyeloneuropathy, adult	XLR
ABCD3	170995	?Bile acid synthesis defect, congenital, 5	AR
ABCD4	603214	Methylmalonic aciduria and homocystinuria, cblJ type	AR
ACAD8	604773	Isobutyryl-CoA dehydrogenase deficiency	AR
ACAD9	611103	Mitochondrial complex I deficiency, nuclear type 20	AR
ACADM	607008	Acyl-CoA dehydrogenase, medium chain, deficiency of	AR
ACADS	606885	Acyl-CoA dehydrogenase, short-chain, deficiency of	AR
ACADSB	600301	2-methylbutyrylglycinuria	AR
ACADVL	609575	VLCAD deficiency	AR
ACAT1	607809	Alpha-methylacetoacetic aciduria	AR
ACO2	100850	?Optic atrophy 9	AR
ACO2	100850	Infantile cerebellar-retinal degeneration	AR
ACOX1	609751	Peroxisomal acyl-CoA oxidase deficiency	AR
ACOX1	609751	Mitchell syndrome	AD
ACSF3	614245	Combined malonic and methylmalonic aciduria	-
ACTA1	102610	Nemaline myopathy 3, autosomal dominant or recessive	AD, AR
		?Myopathy, scapulohumeroperoneal	AD
		Myopathy, congenital, with fiber-type disproportion 1	AD, AR
		Myopathy, actin, congenital, with cores	AD, AR
		Myopathy, actin, congenital, with excess of thin myofilaments	AD, AR
ACY1	104620	Aminoacylase 1 deficiency	AR
ADA	608958	Adenosine deaminase deficiency, partial	AR, Somatic mosaicism
ADA	608958	Severe combined immunodeficiency due to ADA deficiency	AR, Somatic mosaicism
ADAMTS13	604134	Thrombotic thrombocytopenic purpura, hereditary	AR
ADAMTSL2	612277	Geleophysic dysplasia 1	AR
ADAR	146920	Aicardi-Goutieres syndrome 6	AR
ADAR	146920	Dyschromatosis symmetrica hereditaria	AD
ADK	102750	Hypermethioninemia due to adenosine kinase deficiency	AR
ADNP	611386	Helsmoortel-van der Aa syndrome	AD
ADSL	608222	Adenylosuccinase deficiency	AR
AGA	613228	Aspartylglucosaminuria	AR
AGK	610345	Sengers syndrome	AR
AGK	610345	Cataract 38, autosomal recessive	AR
AGL	610860	Glycogen storage disease IIIb	AR
AGL	610860	Glycogen storage disease IIIa	AR
AGPAT2	603100	Lipodystrophy, congenital generalized, type 1	AR
AGPS	603051	Rhizomelic chondrodysplasia punctata, type 3	AR
AGRN	103320	Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects	AR
AGXT	604285	Hyperoxaluria, primary, type 1	AR
AHCY	180960	Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase	AR
AICDA	605257	Immunodeficiency with hyper-IgM, type 2	AR
AIFM1	300169	Cowchock syndrome	XLR
		Combined oxidative phosphorylation deficiency 6	XLR
		Deafness, X-linked 5	XLR
		Spondyloepimetaphyseal dysplasia, X-linked, with hypomyelinating leukodystrophy	XLR
AIMP1	603605	Leukodystrophy, hypomyelinating, 3	AR
AKAP9	604001	?Long QT syndrome 11	AD
AKR1D1	604741	Bile acid synthesis defect, congenital, 2	AR
AKT2	164731	Diabetes mellitus, type II	AD
AKT2	164731	Hypoinsulinemic hypoglycemia with hemihypertrophy	AD
ALAD	125270	Porphyria, acute hepatic	AR
ALAD	125270	Lead poisoning, susceptibility to	AR
ALAS2	301300	Protoporphyria, erythropoietic, X-linked	XL
ALAS2	301300	Anemia, sideroblastic, 1	XLR
ALDH18A1	138250	Cutis laxa, autosomal dominant 3	AD
		Cutis laxa, autosomal recessive, type IIIA	AR
		Spastic paraplegia 9B, autosomal recessive	AR
		Spastic paraplegia 9A, autosomal dominant	AD
ALDH3A2	609523	Sjogren-Larsson syndrome	AR
ALDH4A1	606811	Hyperprolinemia, type II	AR
ALDH5A1	610045	Succinic semialdehyde dehydrogenase deficiency	AR
ALDH6A1	603178	Methylmalonate semialdehyde dehydrogenase deficiency	AR
ALDH7A1	107323	Epilepsy, pyridoxine-dependent	AR
ALDOA	103850	Glycogen storage disease XII	AR
ALDOB	612724	Fructose intolerance, hereditary	AR
ALG1	605907	Congenital disorder of glycosylation, type Ik	AR
ALG11	613666	Congenital disorder of glycosylation, type Ip	AR
ALG12	607144	Congenital disorder of glycosylation, type Ig	AR
ALG13	300776	?Congenital disorder of glycosylation, type Is	XL
ALG13	300776	Developmental and epileptic encephalopathy 36	XL
ALG14	612866	Intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies	AR
		?Myasthenic syndrome, congenital, 15, without tubular aggregates	AR
		Myopathy, epilepsy, and progressive cerebral atrophy	AR
ALG2	607905	?Congenital disorder of glycosylation, type Ii	AR
ALG2	607905	Myasthenic syndrome, congenital, 14, with tubular aggregates	AR
ALG3	608750	Congenital disorder of glycosylation, type Id	AR
ALG6	604566	Congenital disorder of glycosylation, type Ic	AR
ALG8	-	Polycystic liver disease 3 with or without kidney cysts	AD
ALG8	-	Congenital disorder of glycosylation, type Ih	AR
ALG9	606941	Congenital disorder of glycosylation, type Il	AR
ALG9	606941	Gillessen-Kaesbach-Nishimura syndrome	AR
ALOX12B	603741	Ichthyosis, congenital, autosomal recessive 2	AR
ALOXE3	607206	Ichthyosis, congenital, autosomal recessive 3	AR
ALPL	171760	Hypophosphatasia, infantile	AR
		Odontohypophosphatasia	AD, AR
		Hypophosphatasia, childhood	AR
		Hypophosphatasia, adult	AD, AR
ALS2	606352	Amyotrophic lateral sclerosis 2, juvenile	AR
		Spastic paralysis, infantile onset ascending	AR
		Primary lateral sclerosis, juvenile	AR
AMACR	604489	Bile acid synthesis defect, congenital, 4	AR
AMACR	604489	Alpha-methylacyl-CoA racemase deficiency	AR
AMN	605799	Imerslund-Grasbeck syndrome 2	AR
AMPD1	102770	Myopathy due to myoadenylate deaminase deficiency	AR
AMT	238310	Glycine encephalopathy	AR
ANK1	612641	Spherocytosis, type 1	AD, AR
ANKRD26	610855	Thrombocytopenia 2	AD
ANKS6	615370	Nephronophthisis 16	AR
ANTXR1	606410	?Hemangioma, capillary infantile, susceptibility to	AD
ANTXR1	606410	GAPO syndrome	AR
ANTXR2	-	Hyaline fibromatosis syndrome	AR
AP2S1	602242	Hypocalciuric hypercalcemia, type III	AD
AP4B1	607245	Spastic paraplegia 47, autosomal recessive	AR
AP4E1	607244	Stuttering, familial persistent, 1	AD
AP4E1	607244	Spastic paraplegia 51, autosomal recessive	AR
AP4M1	602296	Spastic paraplegia 50, autosomal recessive	AR
AP4S1	607243	Spastic paraplegia 52, autosomal recessive	AR
APOB	107730	Hypobetalipoproteinemia	AR
APOB	107730	Hypercholesterolemia, familial, 2	AD
APTX	606350	Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia	AR
ARG1	608313	Argininemia	AR
ARL6	608845	Retinitis pigmentosa 55	AR
		Bardet-Biedl syndrome 1, modifier of	AR, DR
		Bardet-Biedl syndrome 3	AR
ARSA	607574	Metachromatic leukodystrophy	AR
ARSB	611542	Mucopolysaccharidosis type VI (Maroteaux-Lamy)	AR
ARX	300382	Developmental and epileptic encephalopathy 1	XLR
		Mental retardation, X-linked 29 and others	XLR
		Hydranencephaly with abnormal genitalia	XL
		Partington syndrome	XLR
		Lissencephaly, X-linked 2	XL
		Proud syndrome	XL
ASAH1	613468	Spinal muscular atrophy with progressive myoclonic epilepsy	AR
ASAH1	613468	Farber lipogranulomatosis	AR
ASL	608310	Argininosuccinic aciduria	AR
ASNS	108370	Asparagine synthetase deficiency	AR
ASPA	608034	Canavan disease	AR
ASPM	605481	Microcephaly 5, primary, autosomal recessive	AR
ASS1	603470	Citrullinemia	AR
ATIC	601731	AICA-ribosiduria due to ATIC deficiency	AR
ATP1A3	182350	Alternating hemiplegia of childhood 2	AD
		Dystonia-12	AD
		Developmental and epileptic encephalopathy 99	AD
		CAPOS syndrome	AD
ATP6V0A2	611716	Cutis laxa, autosomal recessive, type IIA	AR
ATP6V0A2	611716	Wrinkly skin syndrome	AR
ATP6V1B1	192132	Distal renal tubular acidosis 2 with progressive sensorineural hearing loss	AR
ATP7A	300011	Menkes disease	XLR
		Occipital horn syndrome	XLR
		Spinal muscular atrophy, distal, X-linked 3	XLR
ATP7B	606882	Wilson disease	AR
ATP8B1	602397	Cholestasis, progressive familial intrahepatic 1	AR
		Cholestasis, intrahepatic, of pregnancy, 1	AD
		Cholestasis, benign recurrent intrahepatic	AR
ATPAF2	608918	?Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1	AR
ATR	601215	?Cutaneous telangiectasia and cancer syndrome, familial	AD
ATR	601215	Seckel syndrome 1	AR
ATRX	300032	Mental retardation-hypotonic facies syndrome, X-linked	XLR
		Alpha-thalassemia/mental retardation syndrome	XLD
		Alpha-thalassemia myelodysplasia syndrome, somatic	-
AUH	600529	3-methylglutaconic aciduria, type I	AR
B3GLCT	610308	Peters-plus syndrome	AR
B4GALT1	137060	Congenital disorder of glycosylation, type IId	AR
BCAP31	300398	Deafness, dystonia, and cerebral hypomyelination	XLR
BCKDHA	608348	Maple syrup urine disease, type Ia	AR
BCKDHB	248611	Maple syrup urine disease, type Ib	AR
BCKDK	614901	Branched-chain ketoacid dehydrogenase kinase deficiency	-
BCS1L	603647	GRACILE syndrome	AR
		Bjornstad syndrome	AR
		Mitochondrial complex III deficiency, nuclear type 1	AR
BICD2	609797	Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant	AD
BICD2	609797	Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant	AD
BIN1	601248	Centronuclear myopathy 2	AR
BLNK	604515	?Agammaglobulinemia 4	AR
BOLA3	613183	Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia	AR
BRAF	164757	Cardiofaciocutaneous syndrome	AD
		Adenocarcinoma of lung, somatic	-
		Noonan syndrome 7	AD
		Colorectal cancer, somatic	-
		Melanoma, malignant, somatic,	-
		LEOPARD syndrome 3	AD
BRAT1	614506	Neurodevelopmental disorder with cerebellar atrophy and with or without seizures	AR
BRAT1	614506	Rigidity and multifocal seizure syndrome, lethal neonatal	AR
BRCA2	600185	Prostate cancer	AD, SM
		Breast-ovarian cancer, familial, 2	AD
		Glioblastoma 3	AR
		Wilms tumor	AD, SM
		Pancreatic cancer 2	-
		Breast cancer, male, susceptibility to	AD, SM
		Fanconi anemia, complementation group D1	AR
		Medulloblastoma	AD, AR, SM
BSCL2	606158	Lipodystrophy, congenital generalized, type 2	AR
		Encephalopathy, progressive, with or without lipodystrophy	AR
		Silver spastic paraplegia syndrome	AD
		Neuropathy, distal hereditary motor, type VC	AD
BSND	606412	Bartter syndrome, type 4a	AR
BSND	606412	Sensorineural deafness with mild renal dysfunction	AR
BTD	609019	Biotinidase deficiency	AR
BTK	300300	Agammaglobulinemia, X-linked 1	XLR
BTK	300300	Isolated growth hormone deficiency, type III, with agammaglobulinemia	XLR
CA12	603263	Hyperchlorhidrosis, isolated	AR
CACNA1C	114205	Long QT syndrome 8	AD
		Brugada syndrome 3	-
		Timothy syndrome	AD
		Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures	-
CACNB2	600003	Brugada syndrome 4	-
CALM1	114180	Long QT syndrome 14	AD
CALM1	114180	Ventricular tachycardia, catecholaminergic polymorphic, 4	AD
CAMTA1	611501	Cerebellar ataxia, nonprogressive, with mental retardation	AD
CASK	300172	Mental retardation, with or without nystagmus	-
		Mental retardation and microcephaly with pontine and cerebellar hypoplasia	XLD
		FG syndrome 4	-
CASR	601199	Epilepsy idiopathic generalized, susceptibility to, 8	-
		Hypocalcemia, autosomal dominant, with Bartter syndrome	AD
		Hypocalciuric hypercalcemia, type I	AD
		Hyperparathyroidism, neonatal	AD, AR
		Hypocalcemia, autosomal dominant	AD
CAST	114090	Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads	AR
CAV1	601047	Pulmonary hypertension, primary, 3	AD
		Lipodystrophy, familial partial, type 7	AD
		?Lipodystrophy, congenital generalized, type 3	AR
CAV3	601253	Rippling muscle disease 2	AD
		Cardiomyopathy, familial hypertrophic	AD, DD
		Creatine phosphokinase, elevated serum	AD
		Long QT syndrome 9	AD
		Myopathy, distal, Tateyama type	AD
CAVIN1	603198	Lipodystrophy, congenital generalized, type 4	AR
CBS	613381	Thrombosis, hyperhomocysteinemic	AR
CBS	613381	Homocystinuria, B6-responsive and nonresponsive types	AR
CCDC103	614677	Ciliary dyskinesia, primary, 17	AR
CCDC78	614666	?Centronuclear myopathy 4	AD
CD19	107265	Immunodeficiency, common variable, 3	AR
CD247	186780	?Immunodeficiency 25	AR
CD320	606475	Methylmalonic aciduria, transient, due to transcobalamin receptor defect	AR
CD3D	186790	Immunodeficiency 19	AR
CD3E	186830	Immunodeficiency 18, SCID variant	AR
CD3E	186830	Immunodeficiency 18	AR
CD3G	186740	Immunodeficiency 17, CD3 gamma deficient	AR
CD40	109535	Immunodeficiency with hyper-IgM, type 3	AR
CD40LG	300386	Immunodeficiency, X-linked, with hyper-IgM	XLR
CD59	107271	Hemolytic anemia, CD59-mediated, with or without immune-mediated polyneuropathy	AR
CD79A	112205	Agammaglobulinemia 3	AR
CD79B	147245	Agammaglobulinemia 6	AR
CD81	186845	Immunodeficiency, common variable, 6	AR
CD96	606037	C syndrome	AD
CDAN1	607465	Dyserythropoietic anemia, congenital, type Ia	AR
CDK5RAP2	608201	Microcephaly 3, primary, autosomal recessive	AR
CDKL5	300203	Developmental and epileptic encephalopathy 2	XLD
CDKN1C	600856	IMAGE syndrome	AD
CDKN1C	600856	Beckwith-Wiedemann syndrome	AD
CENPJ	609279	?Seckel syndrome 4	AR
CENPJ	609279	Microcephaly 6, primary, autosomal recessive	AR
CEP152	613529	Microcephaly 9, primary, autosomal recessive	AR
CEP152	613529	Seckel syndrome 5	AR
CEP290	610142	Leber congenital amaurosis 10	-
		Meckel syndrome 4	AR
		?Bardet-Biedl syndrome 14	AR
		Senior-Loken syndrome 6	AR
		Joubert syndrome 5	AR
CERS3	615276	Ichthyosis, congenital, autosomal recessive 9	AR
CFAP298	615494	Ciliary dyskinesia, primary, 26	AR
CFH	134370	Basal laminar drusen	AD
		Macular degeneration, age-related, 4	-
		Hemolytic uremic syndrome, atypical, susceptibility to, 1	AD, AR
		Complement factor H deficiency	AD, AR
CFHR3	605336	Macular degeneration, age-related, reduced risk of	AD
CFHR3	605336	Hemolytic uremic syndrome, atypical, susceptibility to	AD, AR
CFL2	-	Nemaline myopathy 7, autosomal recessive	AR
CFTR	602421	Congenital bilateral absence of vas deferens	AR
		Pancreatitis, hereditary	AD
		Bronchiectasis with or without elevated sweat chloride 1, modifier of	AD
		Cystic fibrosis	AR
CHAT	118490	Myasthenic syndrome, congenital, 6, presynaptic	AR
CHD7	608892	CHARGE syndrome	AD
CHD7	608892	Hypogonadotropic hypogonadism 5 with or without anosmia	AD
CHKB	612395	Muscular dystrophy, congenital, megaconial type	AR
CHM	300390	Choroideremia	XL
CHRNA1	100690	Myasthenic syndrome, congenital, 1B, fast-channel	AD, AR
		Myasthenic syndrome, congenital, 1A, slow-channel	AD
		Multiple pterygium syndrome, lethal type	AR
CHRNB1	100710	Myasthenic syndrome, congenital, 2A, slow-channel	AD
CHRNB1	100710	?Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency	AR
CHRND	100720	?Myasthenic syndrome, congenital, 3A, slow-channel	AD
		Myasthenic syndrome, congenital, 3B, fast-channel	AR
		Multiple pterygium syndrome, lethal type	AR
		?Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency	AR
CHRNE	100725	Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency	AR
		Myasthenic syndrome, congenital, 4A, slow-channel	AD, AR
		Myasthenic syndrome, congenital, 4B, fast-channel	AR
CLCN1	118425	Myotonia congenita, dominant	AD
CLCN1	118425	Myotonia congenita, recessive	AR
CLCNKA	602024	Bartter syndrome, type 4b, digenic	DR
CLCNKB	602023	Bartter syndrome, type 3	AR
CLCNKB	602023	Bartter syndrome, type 4b, digenic	DR
CLDN16	603959	Hypomagnesemia 3, renal	AR
CLN3	607042	Ceroid lipofuscinosis, neuronal, 3	AR
CLN5	-	Ceroid lipofuscinosis, neuronal, 5	AR
CLN6	606725	Ceroid lipofuscinosis, neuronal, Kufs type, adult onset	AR
CLN6	606725	Ceroid lipofuscinosis, neuronal, 6	AR
CLN8	607837	Ceroid lipofuscinosis, neuronal, 8	AR
CLN8	607837	Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant	AR
CLPB	616254	3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropenia	AR
		3-methylglutaconic aciduria, type VIIA, autosomal dominant	AD
		Neutropenia, severe congenital, 9, autosomal dominant	AD
CNTN1	600016	?Myopathy, congenital, Compton-North	AR
COA5	613920	?Mitochondrial complex IV, deficiency, nuclear type 9	AR
COG1	606973	Congenital disorder of glycosylation, type IIg	AR
COG6	606977	Shaheen syndrome	AR
COG6	606977	Congenital disorder of glycosylation, type IIl	AR
COG7	606978	Congenital disorder of glycosylation, type IIe	AR
COL11A1	120280	Marshall syndrome	AD
		Fibrochondrogenesis 1	AR
		Lumbar disc herniation, susceptibility to	-
		?Deafness, autosomal dominant 37	AD
		Stickler syndrome, type II	AD
COL17A1	113811	Epithelial recurrent erosion dystrophy	AD
		Epidermolysis bullosa, junctional, localisata variant	AR
		Epidermolysis bullosa, junctional, non-Herlitz type	AR
		Epidermolysis bullosa, junctional 4, intermediate	-
COL1A1	120150	Ehlers-Danlos syndrome, arthrochalasia type, 1	AD
		Bone mineral density variation QTL, osteoporosis	AD
		Osteogenesis imperfecta, type III	AD
		Osteogenesis imperfecta, type I	AD
		Caffey disease	AD
		Osteogenesis imperfecta, type IV	AD
		Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1	AD
		Osteogenesis imperfecta, type II	AD
COL1A2	120160	Osteoporosis, postmenopausal	AD
		Ehlers-Danlos syndrome, cardiac valvular type	AR
		Ehlers-Danlos syndrome, arthrochalasia type, 2	AD
		Osteogenesis imperfecta, type III	AD
		Osteogenesis imperfecta, type IV	AD
		Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2	AD
		Osteogenesis imperfecta, type II	AD
COL2A1	120140	Legg-Calve-Perthes disease	AD
		Stickler syndrome, type I	AD
		Osteoarthritis with mild chondrodysplasia	AD
		Platyspondylic skeletal dysplasia, Torrance type	AD
		Spondyloepiphyseal dysplasia, Stanescu type	AD
		Kniest dysplasia	AD
		Czech dysplasia	AD
		Stickler sydrome, type I, nonsyndromic ocular	AD
		?Vitreoretinopathy with phalangeal epiphyseal dysplasia	AD
		?Epiphyseal dysplasia, multiple, with myopia and deafness	AD
		Avascular necrosis of the femoral head	AD
		Spondyloperipheral dysplasia	AD
		Achondrogenesis, type II or hypochondrogenesis	AD
		SMED Strudwick type	AD
		SED congenita	AD
COL3A1	120180	Ehlers-Danlos syndrome, vascular type	AD
COL3A1	120180	Polymicrogyria with or without vascular-type EDS	AR
COL5A2	120190	Ehlers-Danlos syndrome, classic type, 2	AD
COL6A1	120220	Bethlem myopathy 1	AD, AR
COL6A1	120220	Ullrich congenital muscular dystrophy 1	AD, AR
COL6A2	120240	Bethlem myopathy 1	AD, AR
		Ullrich congenital muscular dystrophy 1	AD, AR
		?Myosclerosis, congenital	AR
COL6A3	120250	Dystonia 27	AR
		Ullrich congenital muscular dystrophy 1	AD, AR
		Bethlem myopathy 1	AD, AR
COL7A1	120120	Epidermolysis bullosa dystrophica, AR	AR
		Epidermolysis bullosa dystrophica, AD	AD
		Epidermolysis bullosa pruriginosa	AD, AR
		Transient bullous of the newborn	AD, AR
		Epidermolysis bullosa, pretibial	AD, AR
		Toenail dystrophy, isolated	AD
		EBD, Bart type	AD
		EBD inversa	AR
COLQ	603033	Myasthenic syndrome, congenital, 5	AR
COMP	600310	Carpal tunnel syndrome 2	AD
		Epiphyseal dysplasia, multiple, 1	AD
		Pseudoachondroplasia	AD
COQ2	609825	Coenzyme Q10 deficiency, primary, 1	AR
COQ2	609825	Multiple system atrophy, susceptibility to	AD, AR
COQ8A	606980	Coenzyme Q10 deficiency, primary, 4	AR
COQ9	612837	Coenzyme Q10 deficiency, primary, 5	AR
CORO1A	605000	Immunodeficiency 8	AR
COX10	602125	Mitochondrial complex IV deficiency, nuclear type 3	AR
COX15	603646	Mitochondrial complex IV deficiency, nuclear type 6	AR
COX20	614698	Mitochondrial complex IV deficiency, nuclear type 11	AR
COX6B1	124089	Mitochondrial complex IV deficiency, nuclear type 7	AR
CPS1	608307	Carbamoylphosphate synthetase I deficiency	AR
CPS1	608307	Pulmonary hypertension, neonatal, susceptibility to	-
CPT1A	600528	CPT deficiency, hepatic, type IA	AR
CPT2	600650	CPT II deficiency, myopathic, stress-induced	AD, AR
		CPT II deficiency, infantile	AR
		Encephalopathy, acute, infection-induced, 4, susceptibility to	AD, AR
		CPT II deficiency, lethal neonatal	AR
CR2	120650	Immunodeficiency, common variable, 7	AR
CR2	120650	Systemic lupus erythematosus, susceptibility to, 9	-
CRPPA	614631	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7	AR
CRPPA	614631	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7	AR
CRTAP	605497	Osteogenesis imperfecta, type VII	AR
CTNS	606272	Cystinosis, late-onset juvenile or adolescent nephropathic	AR
		Cystinosis, ocular nonnephropathic	AR
		Cystinosis, nephropathic	AR
		Cystinosis, atypical nephropathic	AR
CTPS1	123860	Immunodeficiency 24	AR
CTSA	613111	Galactosialidosis	AR
CTSD	116840	Ceroid lipofuscinosis, neuronal, 10	AR
CUL4B	300304	Mental retardation, X-linked, syndromic 15 (Cabezas type)	XLR
CXCR4	162643	WHIM syndrome	AD
CYP11B1	610613	Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency	AR
CYP11B1	610613	Aldosteronism, glucocorticoid-remediable	AD
CYP11B2	124080	Hypoaldosteronism, congenital, due to CMO II deficiency	AR
CYP11B2	124080	Hypoaldosteronism, congenital, due to CMO I deficiency	AR
CYP17A1	609300	17, 20-lyase deficiency, isolated	AR
CYP17A1	609300	17-alpha-hydroxylase/17, 20-lyase deficiency	AR
CYP4F22	611495	Ichthyosis, congenital, autosomal recessive 5	AR
CYP7B1	603711	Spastic paraplegia 5A, autosomal recessive	AR
CYP7B1	603711	Bile acid synthesis defect, congenital, 3	AR
D2HGDH	609186	D-2-hydroxyglutaric aciduria	AR
DBT	248610	Maple syrup urine disease, type II	AR
DCLRE1C	605988	Omenn syndrome	AR
DCLRE1C	605988	Severe combined immunodeficiency, Athabascan type	AR
DDC	107930	Aromatic L-amino acid decarboxylase deficiency	AR
DDOST	602202	?Congenital disorder of glycosylation, type Ir	AR
DDR2	191311	Spondylometaepiphyseal dysplasia, short limb-hand type	AR
DDR2	191311	Warburg-Cinotti syndrome	AD
DEPDC5	614191	Epilepsy, familial focal, with variable foci 1	AD
DES	125660	Cardiomyopathy, dilated, 1I	AD
		Myopathy, myofibrillar, 1	AD, AR
		Scapuloperoneal syndrome, neurogenic, Kaeser type	AD
DGUOK	-	Portal hypertension, noncirrhotic	AR
		Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4	AR
		Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)	AR
DHCR24	606418	Desmosterolosis	AR
DHCR7	602858	Smith-Lemli-Opitz syndrome	AR
DIAPH1	602121	Seizures, cortical blindness, microcephaly syndrome	AR
DIAPH1	602121	Deafness, autosomal dominant 1, with or without thrombocytopenia	AD
DLAT	608770	Pyruvate dehydrogenase E2 deficiency	AR
DLD	238331	Dihydrolipoamide dehydrogenase deficiency	AR
DMD	300377	Cardiomyopathy, dilated, 3B	XL
		Duchenne muscular dystrophy	XLR
		Becker muscular dystrophy	XLR
DNA2	601810	?Seckel syndrome 8	AR
DNA2	601810	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6	AD
DNAH11	603339	Ciliary dyskinesia, primary, 7, with or without situs inversus	AR
DNAH5	603335	Ciliary dyskinesia, primary, 3, with or without situs inversus	AR
DNAI1	604366	Ciliary dyskinesia, primary, 1, with or without situs inversus	AR
DNAI2	605483	Ciliary dyskinesia, primary, 9, with or without situs inversus	AR
DNAJC19	608977	3-methylglutaconic aciduria, type V	AR
DNM2	602378	Lethal congenital contracture syndrome 5	AR
		Charcot-Marie-Tooth disease, axonal type 2M	AD
		Charcot-Marie-Tooth disease, dominant intermediate B	AD
		Centronuclear myopathy 1	AD
DOCK7	615730	Developmental and epileptic encephalopathy 23	AR
DOCK8	611432	Hyper-IgE recurrent infection syndrome, autosomal recessive	AR
DOK7	610285	Fetal akinesia deformation sequence 3	AR
DOK7	610285	Myasthenic syndrome, congenital, 10	AR
DOLK	610746	Congenital disorder of glycosylation, type Im	AR
DPAGT1	191350	Myasthenic syndrome, congenital, 13, with tubular aggregates	AR
DPAGT1	191350	Congenital disorder of glycosylation, type Ij	AR
DPM2	603564	Congenital disorder of glycosylation, type Iu	AR
DPYD	612779	5-fluorouracil toxicity	AR
DPYD	612779	Dihydropyrimidine dehydrogenase deficiency	AR
DRC1	615288	Ciliary dyskinesia, primary, 21	AR
DSP	125647	Cardiomyopathy, dilated, with woolly hair and keratoderma	AR
		Arrhythmogenic right ventricular dysplasia 8	AD
		Keratosis palmoplantaris striata II	AD
		Skin fragility-woolly hair syndrome	AR
		Epidermolysis bullosa, lethal acantholytic	AR
		Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis	AD
DST	113810	?Neuropathy, hereditary sensory and autonomic, type VI	AR
DST	113810	Epidermolysis bullosa simplex, autosomal recessive 2	AR
DUOX2	606759	Thyroid dyshormonogenesis 6	AR
DUOXA2	612772	Thyroid dyshormonogenesis 5	AR
DYSF	603009	Muscular dystrophy, limb-girdle, autosomal recessive 2	AR
		Myopathy, distal, with anterior tibial onset	AR
		Miyoshi muscular dystrophy 1	AR
EDN3	131242	Waardenburg syndrome, type 4B	AD, AR
		Hirschsprung disease, susceptibility to, 4	AD
		Central hypoventilation syndrome, congenital	AD
EEF1A2	602959	Mental retardation, autosomal dominant 38	AD
EEF1A2	602959	Developmental and epileptic encephalopathy 33	AD
EGR2	129010	Dejerine-Sottas disease	AD, AR
		Hypomyelinating neuropathy, congenital, 1	AD, AR
		Charcot-Marie-Tooth disease, type 1D	AD
EIF2AK3	604032	Wolcott-Rallison syndrome	AR
EIF2B1	606686	Leukoencephalopathy with vanishing white matter	AR
EIF2B2	606454	Ovarioleukodystrophy	AR
EIF2B2	606454	Leukoencephalopathy with vanishing white matter	AR
EIF2B3	606273	Leukoencephalopathy with vanishing white matter	AR
EIF2B4	606687	Ovarioleukodystrophy	AR
EIF2B4	606687	Leukoencephalopathy with vanishing white matter	AR
EIF2B5	603945	Ovarioleukodystrophy	AR
EIF2B5	603945	Leukoencephalopathy with vanishing white matter	AR
ELAC2	605367	Prostate cancer, hereditary, 2, susceptibility to	-
ELAC2	605367	Combined oxidative phosphorylation deficiency 17	AR
ELANE	130130	Neutropenia, cyclic	AD
ELANE	130130	Neutropenia, severe congenital 1, autosomal dominant	AD
ENPP1	173335	Arterial calcification, generalized, of infancy, 1	AR
		Obesity, susceptibility to	AD, AR, MF
		Hypophosphatemic rickets, autosomal recessive, 2	AR
		Cole disease	AD
		Diabetes mellitus, non-insulin-dependent, susceptibility to	AD
EPB42	177070	Spherocytosis, type 5	-
EPCAM	185535	Colorectal cancer, hereditary nonpolyposis, type 8	AD
EPCAM	185535	Diarrhea 5, with tufting enteropathy, congenital	AR
ETFA	-	Glutaric acidemia IIA	AR
ETFB	130410	Glutaric acidemia IIB	AR
ETFDH	231675	Glutaric acidemia IIC	AR
ETHE1	608451	Ethylmalonic encephalopathy	AR
EVC	604831	Ellis-van Creveld syndrome	AR
EVC	604831	?Weyers acrofacial dysostosis	AD
EVC2	607261	Ellis-van Creveld syndrome	AR
EVC2	607261	Weyers acrofacial dysostosis	AD
EXOSC3	606489	Pontocerebellar hypoplasia, type 1B	AR
EYA1	601653	Anterior segment anomalies with or without cataract	AD
		Branchiootorenal syndrome 1, with or without cataracts	AD
		?Otofaciocervical syndrome	AD
		Branchiootic syndrome 1	AD
EYA4	603550	Deafness, autosomal dominant 10	AD
EYA4	603550	?Cardiomyopathy, dilated, 1J	AD
F10	613872	Factor X deficiency	AR
F11	264900	Factor XI deficiency, autosomal dominant	-
F11	264900	Factor XI deficiency, autosomal recessive	-
F13A1	134570	Factor XIIIA deficiency	AR
		Venous thrombosis, protection against	AD
		Myocardial infarction, protection against	-
F2	176930	Dysprothrombinemia	AR
		Stroke, ischemic, susceptibility to	MF
		Pregnancy loss, recurrent, susceptibility to, 2	AD
		Hypoprothrombinemia	AR
		Thrombophilia due to thrombin defect	AD
F5	612309	Pregnancy loss, recurrent, susceptibility to, 1	AD
		Factor V deficiency	AR
		Stroke, ischemic, susceptibility to	MF
		Budd-Chiari syndrome	AR
		Thrombophilia, susceptibility to, due to factor V Leiden	AD
		Thrombophilia due to activated protein C resistance	AD
F7	613878	Myocardial infarction, decreased susceptibility to	-
F7	613878	Factor VII deficiency	AR
F8	300841	Thrombophilia 13, X-linked, due to factor VIII defect	-
F8	300841	Hemophilia A	XLR
F9	300746	Warfarin sensitivity	XL
		Thrombophilia, X-linked, due to factor IX defect	XLR
		Hemophilia B	XLR
		Deep venous thrombosis, protection against	XLR
FADD	602457	Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations	AR
FAH	613871	Tyrosinemia, type I	AR
FANCA	607139	Fanconi anemia, complementation group A	AR
FANCB	-	Fanconi anemia, complementation group B	XLR
FANCC	613899	Fanconi anemia, complementation group C	AR
FANCD2	613984	Fanconi anemia, complementation group D2	AR
FANCL	-	Fanconi anemia, complementation group L	AR
FARS2	611592	Combined oxidative phosphorylation deficiency 14	AR
FARS2	611592	Spastic paraplegia 77, autosomal recessive	AR
FASTKD2	612322	Combined oxidative phosphorylation deficiency 44	AR
FBN1	134797	Marfan lipodystrophy syndrome	AD
		Geleophysic dysplasia 2	AD
		Acromicric dysplasia	AD
		Marfan syndrome	AD
		Weill-Marchesani syndrome 2, dominant	AD
		Stiff skin syndrome	AD
		MASS syndrome	AD
		Ectopia lentis, familial	AD
FBP1	611570	Fructose-1, 6-bisphosphatase deficiency	AR
FBXL4	605654	Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)	AR
FGA	134820	Hypodysfibrinogenemia, congenital	-
		Afibrinogenemia, congenital	AR
		Amyloidosis, familial visceral	AD
		Dysfibrinogenemia, congenital	-
FGB	134830	Afibrinogenemia, congenital	AR
		Dysfibrinogenemia, congenital	-
		Hypofibrinogenemia, congenital	AR
FGFR2	176943	Crouzon syndrome	AD
		Saethre-Chotzen syndrome	AD
		Craniofacial-skeletal-dermatologic dysplasia	AD
		Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis	AD
		Gastric cancer, somatic	-
		LADD syndrome	AD
		Beare-Stevenson cutis gyrata syndrome	AD
		Scaphocephaly, maxillary retrusion, and mental retardation	-
		Apert syndrome	AD
		Bent bone dysplasia syndrome	AD
		Pfeiffer syndrome	AD
		Jackson-Weiss syndrome	AD
FGFR3	134934	Achondroplasia	AD
		CATSHL syndrome	AD, AR
		Thanatophoric dysplasia, type I	AD
		Bladder cancer, somatic	-
		Hypochondroplasia	AD
		SADDAN	AD
		Colorectal cancer, somatic	-
		Crouzon syndrome with acanthosis nigricans	AD
		Cervical cancer, somatic	-
		Nevus, epidermal, somatic	-
		Thanatophoric dysplasia, type II	AD
		Spermatocytic seminoma, somatic	-
		Muenke syndrome	AD
		LADD syndrome	AD
FGG	134850	Dysfibrinogenemia, congenital	-
		Afibrinogenemia, congenital	AR
		Hypofibrinogenemia, congenital	AR
		Hypodysfibrinogenemia	-
FH	136850	Fumarase deficiency	AR
FH	136850	Leiomyomatosis and renal cell cancer	AD
FIG4	609390	Amyotrophic lateral sclerosis 11	AD
		Yunis-Varon syndrome	AR
		Charcot-Marie-Tooth disease, type 4J	AR
		?Polymicrogyria, bilateral temporooccipital	AR
FKBP14	614505	Ehlers-Danlos syndrome, kyphoscoliotic type, 2	AR
FKRP	606596	Muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5	AR
		Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5	AR
		Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5	AR
FKTN	607440	Cardiomyopathy, dilated, 1X	AR
		Muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B, 4	AR
		Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4	AR
		Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4	AR
FOXC1	601090	Anterior segment dysgenesis 3, multiple subtypes	AD
FOXC1	601090	Axenfeld-Rieger syndrome, type 3	AD
FOXE1	602617	Bamforth-Lazarus syndrome	AR
FOXE1	602617	Thyroid cancer, nonmedullary, 4	AD
FOXG1	164874	Rett syndrome, congenital variant	AD
FOXP3	300292	Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked	XLR
FOXRED1	613622	Mitochondrial complex I deficiency, nuclear type 19	AR
FRAS1	607830	Fraser syndrome 1	AR
FUCA1	612280	Fucosidosis	AR
G6PC1	613742	Glycogen storage disease Ia	AR
G6PD	305900	Resistance to malaria due to G6PD deficiency	-
G6PD	305900	Hemolytic anemia, G6PD deficient (favism)	XLD
GAA	606800	Glycogen storage disease II	AR
GALC	606890	Krabbe disease	AR
GALE	606953	Galactose epimerase deficiency	AR
GALK1	604313	Galactokinase deficiency with cataracts	AR
GALNS	612222	Mucopolysaccharidosis IVA	AR
GALT	606999	Galactosemia	AR
GAMT	601240	Cerebral creatine deficiency syndrome 2	AR
GAN	605379	Giant axonal neuropathy-1	AR
GARS1	600287	Spinal muscular atrophy, infantile, James type	AD
		Charcot-Marie-Tooth disease, type 2D	AD
		Neuronopathy, distal hereditary motor, type VA	AD
GATA1	305371	Thrombocytopenia with beta-thalassemia, X-linked	XLR
		Thrombocytopenia, X-linked, with or without dyserythropoietic anemia	XLR
		Anemia, X-linked, with/without neutropenia and/or platelet abnormalities	XLR
		Leukemia, megakaryoblastic, with or without Down syndrome, somatic	-
		Hemolytic anemia due to elevated adenosine deaminase	-
GATM	602360	Cerebral creatine deficiency syndrome 3	AR
GATM	602360	Fanconi renotubular syndrome 1	AD
GBA	606463	Lewy body dementia, susceptibility to	AD
		Gaucher disease, type IIIC	AR
		Parkinson disease, late-onset, susceptibility to	AD, MF
		Gaucher disease, type II	AR
		Gaucher disease, type III	AR
		Gaucher disease, perinatal lethal	AR
		Gaucher disease, type I	AR
GBE1	607839	Glycogen storage disease IV	AR
GBE1	607839	Polyglucosan body disease, adult form	AR
GCDH	608801	Glutaricaciduria, type I	AR
GCH1	600225	Dystonia, DOPA-responsive, with or without hyperphenylalaninemia	AD, AR
GCH1	600225	Hyperphenylalaninemia, BH4-deficient, B	AR
GCK	138079	Diabetes mellitus, permanent neonatal 1	AR
		Diabetes mellitus, noninsulin-dependent, late onset	AD
		Hyperinsulinemic hypoglycemia, familial, 3	AD
		MODY, type II	AD
GCSH	238330	?Glycine encephalopathy	AR
GDAP1	606598	Charcot-Marie-Tooth disease, axonal, type 2K	AD, AR
		Charcot-Marie-Tooth disease, type 4A	AR
		Charcot-Marie-Tooth disease, axonal, with vocal cord paresis	AR
		Charcot-Marie-Tooth disease, recessive intermediate, A	AR
GFAP	137780	Alexander disease	AD
GFM1	606639	Combined oxidative phosphorylation deficiency 1	AR
GFPT1	138292	Myasthenia, congenital, 12, with tubular aggregates	AR
GJA1	121014	Oculodentodigital dysplasia, autosomal recessive	AR
		Atrioventricular septal defect 3	AD
		Syndactyly, type III	AD
		Craniometaphyseal dysplasia, autosomal recessive	AR
		Palmoplantar keratoderma with congenital alopecia	AD
		Oculodentodigital dysplasia	AD
		Hypoplastic left heart syndrome 1	AR
		Erythrokeratodermia variabilis et progressiva 3	AD
GJB2	121011	Keratoderma, palmoplantar, with deafness	AD
		Keratitis-ichthyosis-deafness syndrome	AD
		Deafness, autosomal dominant 3A	AD
		Hystrix-like ichthyosis with deafness	AD
		Bart-Pumphrey syndrome	AD
		Vohwinkel syndrome	AD
		Deafness, autosomal recessive 1A	AR, DD
GJB4	605425	Erythrokeratodermia variabilis et progressiva 2	AD
GK	-	Glycerol kinase deficiency	XLR
GLA	300644	Fabry disease	XL
GLA	300644	Fabry disease, cardiac variant	XL
GLB1	611458	GM1-gangliosidosis, type II	AR
		GM1-gangliosidosis, type I	AR
		Mucopolysaccharidosis type IVB (Morquio)	AR
		GM1-gangliosidosis, type III	AR
GLDC	238300	Glycine encephalopathy	AR
GLIS3	610192	Diabetes mellitus, neonatal, with congenital hypothyroidism	AR
GLRA1	138491	Hyperekplexia 1	AD, AR
GLRB	138492	Hyperekplexia 2	AR
GLUD1	138130	Hyperinsulinism-hyperammonemia syndrome	AD
GLYCTK	610516	D-glyceric aciduria	AR
GMPPB	615320	Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 14	AR
		Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14	AR
		Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14	AR
GNAS	139320	Pseudohypoparathyroidism Ic	AD
		Osseous heteroplasia, progressive	AD
		Pseudopseudohypoparathyroidism	AD
		Pseudohypoparathyroidism Ia	AD
		Pseudohypoparathyroidism Ib	AD
		Pituitary adenoma 3, multiple types, somatic	-
		ACTH-independent macronodular adrenal hyperplasia	SM
		McCune-Albright syndrome, somatic, mosaic	-
GNE	603824	Nonaka myopathy	AR
GNE	603824	Sialuria	AD
GNMT	606628	Glycine N-methyltransferase deficiency	AR
GNPAT	602744	Rhizomelic chondrodysplasia punctata, type 2	AR
GNPTAB	607840	Mucolipidosis III alpha/beta	AR
GNPTAB	607840	Mucolipidosis II alpha/beta	AR
GP1BA	606672	Bernard-Soulier syndrome, type A1 (recessive)	AR
		von Willebrand disease, platelet-type	AD
		Bernard-Soulier syndrome, type A2 (dominant)	AD
		Nonarteritic anterior ischemic optic neuropathy, susceptibility to	AR
GP1BB	138720	Giant platelet disorder, isolated	AR
GP1BB	138720	Bernard-Soulier syndrome, type B	AR
GP9	173515	Bernard-Soulier syndrome, type C	AR
GPC3	300037	Simpson-Golabi-Behmel syndrome, type 1	XLR
GPC3	300037	Wilms tumor, somatic	-
GPHN	603930	Molybdenum cofactor deficiency C	AR
GPSM2	609245	Chudley-McCullough syndrome	AR
GSS	601002	Glutathione synthetase deficiency	AR
GSS	601002	Hemolytic anemia due to glutathione synthetase deficiency	AR
GUSB	611499	Mucopolysaccharidosis VII	AR
GYS2	138571	Glycogen storage disease 0, liver	AR
HADH	601609	3-hydroxyacyl-CoA dehydrogenase deficiency	AR
HADH	601609	Hyperinsulinemic hypoglycemia, familial, 4	AR
HADHA	600890	HELLP syndrome, maternal, of pregnancy	AR
		LCHAD deficiency	AR
		Fatty liver, acute, of pregnancy	AR
		Mitochondrial trifunctional protein deficiency	AR
HADHB	143450	Trifunctional protein deficiency	AR
HAMP	606464	Hemochromatosis, type 2B	AR
HAX1	605998	Neutropenia, severe congenital 3, autosomal recessive	AR
HBA1	141800	Methemoglobinemia, alpha type	AD
		Heinz body anemias, alpha-	AD
		Erythrocytosis 7	AD
		Thalassemias, alpha-	-
		Hemoglobin H disease, nondeletional	-
HBA2	141850	Thalassemia, alpha-	-
		Erythrocytosis 7	AD
		Heinz body anemia	AD
		Hemoglobin H disease, deletional and nondeletional	-
HBB	141900	Erythrocytosis 6	AD
		Methemoglobinemia, beta type	AD
		Delta-beta thalassemia	AD
		Thalassemia-beta, dominant inclusion-body	AD
		Sickle cell anemia	AR
		Hereditary persistence of fetal hemoglobin	AD
		Malaria, resistance to	-
		Thalassemia, beta	-
		Heinz body anemia	AD
HCFC1	300019	Mental retardation, X-linked 3 (methylmalonic acidemia and homocysteinemia, cblX type )	XLR
HESX1	601802	Septooptic dysplasia	AD, AR
		Pituitary hormone deficiency, combined, 5	AD, AR
		Growth hormone deficiency with pituitary anomalies	AD, AR
HEXA	606869	Tay-Sachs disease	AR
		[Hex A pseudodeficiency]	AR
		GM2-gangliosidosis, several forms	AR
HEXB	606873	Sandhoff disease, infantile, juvenile, and adult forms	AR
HGD	607474	Alkaptonuria	AR
HGF	142409	Deafness, autosomal recessive 39	AR
HIBCH	610690	3-hydroxyisobutryl-CoA hydrolase deficiency	AR
HLCS	609018	Holocarboxylase synthetase deficiency	AR
HMGCL	613898	HMG-CoA lyase deficiency	AR
HMGCS2	600234	HMG-CoA synthase-2 deficiency	AR
HNF1A	142410	Diabetes mellitus, insulin-dependent	AR
		Diabetes mellitus, insulin-dependent, 20	-
		MODY, type III	AD
		Diabetes mellitus, noninsulin-dependent, 2	AD
		Hepatic adenoma, somatic	-
		Renal cell carcinoma	-
HNF1B	189907	Renal cysts and diabetes syndrome	AD
		Diabetes mellitus, noninsulin-dependent	AD
		Renal cell carcinoma	-
HNF4A	600281	Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young	AD
		Diabetes mellitus, noninsulin-dependent	AD
		MODY, type I	AD
HPD	609695	Hawkinsinuria	AD
HPD	609695	Tyrosinemia, type III	AR
HPGD	601688	Cranioosteoarthropathy	AR
		?Digital clubbing, isolated congenital	AR
		Hypertrophic osteoarthropathy, primary, autosomal recessive 1	AR
HRAS	190020	Thyroid carcinoma, follicular, somatic	-
		Spitz nevus or nevus spilus, somatic	-
		Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic	-
		Bladder cancer, somatic	-
		Costello syndrome	AD
		Nevus sebaceous or woolly hair nevus, somatic	-
		Congenital myopathy with excess of muscle spindles	AD
HSD17B10	300256	HSD10 mitochondrial disease	XLD
HSD17B4	601860	Perrault syndrome 1	AR
HSD17B4	601860	D-bifunctional protein deficiency	AR
HSD3B2	613890	Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency	AR
HSD3B7	607764	Bile acid synthesis defect, congenital, 1	AR
HSPA9	600548	Even-plus syndrome	AR
HSPA9	600548	Anemia, sideroblastic, 4	AD
HSPD1	118190	Leukodystrophy, hypomyelinating, 4	AR
HSPD1	118190	Spastic paraplegia 13, autosomal dominant	AD
HSPG2	142461	Schwartz-Jampel syndrome, type 1	AR
HSPG2	142461	Dyssegmental dysplasia, Silverman-Handmaker type	AR
ICOS	604558	Immunodeficiency, common variable, 1	AR
IDUA	252800	Mucopolysaccharidosis Is	AR
		Mucopolysaccharidosis Ih/s	AR
		Mucopolysaccharidosis Ih	AR
IER3IP1	609382	Microcephaly, epilepsy, and diabetes syndrome	AR
IFIH1	606951	Aicardi-Goutieres syndrome 7	AD
		Singleton-Merten syndrome 1	AD
		Immunodeficiency 95	AR
IFT172	607386	Retinitis pigmentosa 71	AR
		Bardet-Biedl syndrome 20	AR
		Short-rib thoracic dysplasia 10 with or without polydactyly	AR
IGF1	147440	Growth retardation with deafness and mental retardation due to IGF1 deficiency	AR
IGF1R	147370	Insulin-like growth factor I, resistance to	AD, AR
IGHMBP2	600502	Neuronopathy, distal hereditary motor, type VI	AR
IGHMBP2	600502	Charcot-Marie-Tooth disease, axonal, type 2S	AR
IGLL1	146770	Agammaglobulinemia 2	AR
IGSF1	300137	Hypothyroidism, central, and testicular enlargement	XLR
IKBKB	603258	Immunodeficiency 15B	AR
IKBKB	603258	Immunodeficiency 15A	AD
IL12RB1	601604	Immunodeficiency 30	AR
IL2RA	147730	Diabetes, mellitus, insulin-dependent, susceptibility to, 10	-
IL2RA	147730	Immunodeficiency 41 with lymphoproliferation and autoimmunity	AR
IL2RG	308380	Severe combined immunodeficiency, X-linked	XLR
IL2RG	308380	Combined immunodeficiency, X-linked, moderate	XLR
IL7R	146661	Severe combined immunodeficiency, T-cell negative, B-cell/natural killer cell-positive type	AR
INS	176730	Diabetes mellitus, insulin-dependent, 2	AD
		Maturity-onset diabetes of the young, type 10	AD
		Hyperproinsulinemia	AD
		Diabetes mellitus, permanent neonatal 4	AD, AR
INSR	147670	Diabetes mellitus, insulin-resistant, with acanthosis nigricans	-
		Rabson-Mendenhall syndrome	AR
		Hyperinsulinemic hypoglycemia, familial, 5	AD
		Leprechaunism	AR
INVS	243305	Nephronophthisis 2, infantile	AR
IRF8	601565	Immunodeficiency 32B, monocyte and dendritic cell deficiency, autosomal recessive	AR
IRF8	601565	Immunodeficiency 32A, mycobacteriosis, autosomal dominant	AD
IRS4	300904	Hypothyroidism, congenital, nongoitrous, 9	XLR
ITGA2B	607759	Glanzmann thrombasthenia	AR
ITGA2B	607759	Bleeding disorder, platelet-type, 16, autosomal dominant	AD
ITGA6	147556	Epidermolysis bullosa, junctional, with pyloric stenosis	AR
ITGA6	147556	Epidermolysis bullosa, junctional 6, with pyloric atresia	-
ITGA7	600536	Muscular dystrophy, congenital, due to ITGA7 deficiency	AR
ITGB3	173470	Glanzmann thrombasthenia 2	-
		Glanzmann thrombasthenia	AR
		Bleeding disorder, platelet-type, 16, autosomal dominant	AD
		Myocardial infarction, susceptibility to	-
		Bleeding disorder, platelet-type, 24, autosomal dominant	-
ITGB4	147557	Epidermolysis bullosa, junctional, non-Herlitz type	AR
		Epidermolysis bullosa, junctional 5A, intermediate	-
		Epidermolysis bullosa of hands and feet	AD
		Epidermolysis bullosa, junctional, with pyloric atresia	AR
IVD	607036	Isovaleric acidemia	AR
IYD	612025	Thyroid dyshormonogenesis 4	AR
JAG1	601920	Alagille syndrome 1	AD
		Charcot-Marie-Tooth disease, axonal, type 2HH	AD
		?Deafness, congenital heart defects, and posterior embryotoxon	AD
		Tetralogy of Fallot	AD
JAGN1	616012	Neutropenia, severe congenital, 6, autosomal recessive	AR
JAK3	600173	SCID, autosomal recessive, T-negative/B-positive type	AR
JAM3	606871	Hemorrhagic destruction of the brain, subependymal calcification, and cataracts	AR
KAT6A	601408	Arboleda-Tham syndrome	AD
KAT6B	605880	SBBYSS syndrome	AD
KAT6B	605880	Genitopatellar syndrome	AD
KBTBD13	613727	Nemaline myopathy 6, autosomal dominant	AD
KCNE1	176261	Jervell and Lange-Nielsen syndrome 2	AR
KCNE1	176261	Long QT syndrome 5	AD
KCNH1	603305	Zimmermann-Laband syndrome 1	AD
KCNH1	603305	Temple-Baraitser syndrome	AD
KCNH2	152427	Long QT syndrome 2	AD
		Short QT syndrome 1	-
		Long QT syndrome 2, acquired, susceptibility to	AD
KCNJ10	602208	Enlarged vestibular aqueduct, digenic	AR
KCNJ10	602208	SESAME syndrome	AR
KCNJ11	600937	Maturity-onset diabetes of the young, type 13	AD
		Diabetes mellitus, transient neonatal 3	AD
		Hyperinsulinemic hypoglycemia, familial, 2	AD, AR
		Diabetes, permanent neonatal 2, with or without neurologic features	AD
		Diabetes mellitus, type 2, susceptibility to	AD
KCNQ1	607542	Long QT syndrome 1, acquired, susceptibility to	AD
		Jervell and Lange-Nielsen syndrome	AR
		Atrial fibrillation, familial, 3	AD
		Short QT syndrome 2	AD
		Long QT syndrome 1	AD
KCNQ2	602235	Seizures, benign neonatal, 1	AD
		Developmental and epileptic encephalopathy 7	AD
		Myokymia	AD
KCNQ3	602232	Seizures, benign neonatal, 2	AD
KCNT1	608167	Developmental and epileptic encephalopathy 14	AD
KCNT1	608167	Epilepsy nocturnal frontal lobe, 5	AD
KCTD7	611725	Epilepsy, progressive myoclonic 3, with or without intracellular inclusions	AR
KIF1B	605995	?Charcot-Marie-Tooth disease, type 2A1	AD
		Pheochromocytoma	AD
		Neuroblastoma, susceptibility to, 1	AD, SM
KLF1	600599	Dyserythropoietic anemia, congenital, type IV	AD
		Blood group--Lutheran inhibitor	-
		[Hereditary persistence of fetal hemoglobin]	-
KLHL40	615340	Nemaline myopathy 8, autosomal recessive	AR
KLHL41	607701	Nemaline myopathy 9	AR
KLHL7	611119	PERCHING syndrome	AR
KLHL7	611119	Retinitis pigmentosa 42	AD
KRAS	190070	Arteriovenous malformation of the brain, somatic	-
		Gastric cancer, somatic	-
		Oculoectodermal syndrome, somatic	-
		RAS-associated autoimmune leukoproliferative disorder	AD
		Gastric cancer, somatic	-
		Pancreatic carcinoma, somatic	-
		Lung cancer, somatic	-
		Cardiofaciocutaneous syndrome 2	AD
		Bladder cancer, somatic	-
		Leukemia, acute myeloid, somatic	-
		Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic	-
		Breast cancer, somatic	-
		Noonan syndrome 3	AD
KRT5	148040	Epidermolysis bullosa simplex-MP	AD
		Epidermolysis bullosa simplex, Koebner type	AD
		Epidermolysis bullosa simplex, recessive 1	AR
		Epidermolysis bullosa simplex, Weber-Cockayne type	AD
		Epidermolysis bullosa simplex 2B, generalized intermediate	AD
		Epidermolysis bullosa simplex 2A, generalized severe	AD
		Epidermolysis bullosa simplex-MCR	-
		Dowling-Degos disease 1	AD
		Epidermolysis bullosa simplex 2C, localized	AD
		Epidermolysis bullosa simplex, Dowling-Meara type	AD
		Epidermolysis bullosa simplex 2D, generalized, intermediate or severe, autosomal recessive	AR
LAMA2	156225	Muscular dystrophy, congenital, merosin deficient or partially deficient	AR
LAMA2	156225	Muscular dystrophy, limb-girdle, autosomal recessive 23	AR
LAMA3	600805	Laryngoonychocutaneous syndrome	AR
		Epidermolysis bullosa, junctional, Herlitz type	AR
		Epidermolysis bullosa, junctional 2B, severe	-
		Epidermolysis bullosa, generalized atrophic benign	AR
		Epidermolysis bullosa, junctional 2A, intermediate	-
LAMB3	150310	Epidermolysis bullosa, junctional, non-Herlitz type	AR
		Amelogenesis imperfecta, type IA	AD
		Epidermolysis bullosa, junctional, Herlitz type	AR
LAMC2	150292	Epidermolysis bullosa, junctional, non-Herlitz type	AR
		Epidermolysis bullosa, junctional, Herlitz type	AR
		Epidermolysis bullosa, junctional 3B, severe	-
		Epidermolysis bullosa, junctional 3A, intermediate	-
LAMP2	309060	Danon disease	XLD
LAMTOR2	610389	Immunodeficiency due to defect in MAPBP-interacting protein	AR
LARS2	604544	?Hydrops, lactic acidosis, and sideroblastic anemia	AR
LARS2	604544	Perrault syndrome 4	AR
LAS1L	300964	Wilson-Turner syndrome	XLR
LCT	603202	Lactase deficiency, congenital	AR
LHX3	600577	Pituitary hormone deficiency, combined, 3	AR
LHX4	602146	Pituitary hormone deficiency, combined, 4	AD
LIAS	607031	Hyperglycinemia, lactic acidosis, and seizures	AR
LIG4	601837	Multiple myeloma, resistance to	SM
LIG4	601837	LIG4 syndrome	AR
LIPA	613497	Wolman disease	AR
LIPA	613497	Cholesteryl ester storage disease	AR
LIPN	613924	Ichthyosis, congenital, autosomal recessive 8	AR
LIPT1	610284	Lipoyltransferase 1 deficiency	AR
LMBRD1	612625	Methylmalonic aciduria and homocystinuria, cblF type	AR
LMNA	150330	Restrictive dermopathy 2	-
		Malouf syndrome	AD
		Emery-Dreifuss muscular dystrophy 3, autosomal recessive	AR
		Emery-Dreifuss muscular dystrophy 2, autosomal dominant	AD
		Hutchinson-Gilford progeria	AD
		Muscular dystrophy, congenital	AD
		Restrictive dermopathy, lethal	AR
		Lipodystrophy, familial partial, type 2	AD
		Charcot-Marie-Tooth disease, type 2B1	AR
		Mandibuloacral dysplasia	AR
		Cardiomyopathy, dilated, 1A	AD
		Heart-hand syndrome, Slovenian type	AD
LPIN1	605518	Myoglobinuria, acute recurrent, autosomal recessive	AR
LRBA	606453	Immunodeficiency, common variable, 8, with autoimmunity	AR
LRPPRC	607544	Mitochondrial complex IV deficiency, nuclear type 5, (French-Canadian)	AR
LRRC8A	608360	?Agammaglobulinemia 5	AD
MAGEL2	605283	Schaaf-Yang syndrome	AD
MAGT1	300715	Congenital disorder of glycosylation, type Icc	XLR
MAGT1	300715	Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia	XLR
MALT1	604860	Immunodeficiency 12	AR
MAN2B1	609458	Mannosidosis, alpha-, types I and II	AR
MANBA	609489	Mannosidosis, beta	AR
MAP2K1	176872	Cardiofaciocutaneous syndrome 3	AD
MAP2K1	176872	Melorheostosis, isolated, somatic mosaic	-
MAP2K2	601263	Cardiofaciocutaneous syndrome 4	AD
MAT1A	610550	Methionine adenosyltransferase deficiency, autosomal recessive	AD, AR
MAT1A	610550	Hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase I/III deficiency	AD, AR
MCCC1	609010	3-Methylcrotonyl-CoA carboxylase 1 deficiency	AR
MCCC2	609014	3-Methylcrotonyl-CoA carboxylase 2 deficiency	AR
MCEE	608419	Methylmalonyl-CoA epimerase deficiency	AR
MCM4	602638	Immunodeficiency 54	AR
MCPH1	607117	Microcephaly 1, primary, autosomal recessive	AR
MECP2	300005	Rett syndrome, preserved speech variant	XLD
		Encephalopathy, neonatal severe	XLR
		Mental retardation, X-linked, syndromic 13	XLR
		Rett syndrome	XLD
		Mental retardation, X-linked syndromic, Lubs type	XLR
		Rett syndrome, atypical	XLD
		Autism susceptibility, X-linked 3	XL
MED12	300188	Opitz-Kaveggia syndrome	XLR
		Lujan-Fryns syndrome	XLR
		Ohdo syndrome, X-linked	XLR
		Hardikar syndrome	XLD
MEF2C	600662	Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations	AD
MEF2C	600662	Chromosome 5q14.3 deletion syndrome	AD
MEGF10	612453	Myopathy, areflexia, respiratory distress, and dysphagia, early-onset	AR
MEGF10	612453	Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, mild variant	AR
MFN2	608507	Hereditary motor and sensory neuropathy VIA	AD
		Charcot-Marie-Tooth disease, axonal, type 2A2B	AR
		Charcot-Marie-Tooth disease, axonal, type 2A2A	AD
MFSD8	611124	Ceroid lipofuscinosis, neuronal, 7	AR
MFSD8	611124	Macular dystrophy with central cone involvement	AR
MITF	156845	Melanoma, cutaneous malignant, susceptibility to, 8	-
		Waardenburg syndrome, type 2A	AD
		Waardenburg syndrome/ocular albinism, digenic	-
		Tietz albinism-deafness syndrome	AD
		COMMAD syndrome	AR
MKKS	604896	McKusick-Kaufman syndrome	AR
MKKS	604896	Bardet-Biedl syndrome 6	AR
MLC1	605908	Megalencephalic leukoencephalopathy with subcortical cysts	AR
MLYCD	606761	Malonyl-CoA decarboxylase deficiency	AR
MMAA	607481	Methylmalonic aciduria, vitamin B12-responsive	AR
MMAB	607568	Methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB complementation type	AR
MMACHC	609831	Methylmalonic aciduria and homocystinuria, cblC type	AR
MMADHC	611935	Methylmalonic aciduria and homocystinuria, cblD type	AR
		Methylmalonic aciduria, cblD type, variant 2	AR
		Homocystinuria, cblD type, variant 1	AR
MMUT	609058	Methylmalonic aciduria, mut(0) type	AR
MOCS1	603707	Molybdenum cofactor deficiency A	AR
MOCS2	603708	Molybdenum cofactor deficiency B	AR
MPC1	614738	Mitochondrial pyruvate carrier deficiency	AR
MPI	154550	Congenital disorder of glycosylation, type Ib	AR
MPL	159530	Myelofibrosis with myeloid metaplasia, somatic	-
		Thrombocytopenia, congenital amegakaryocytic	AR
		Thrombocythemia 2	AD, SM
MPV17	137960	Charcot-Marie-Tooth disease, axonal, type 2EE	AR
MPV17	137960	Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)	AR
MPZ	159440	Charcot-Marie-Tooth disease, type 2I	AD
		Dejerine-Sottas disease	AD, AR
		Hypomyelinating neuropathy, congenital, 2	AD
		Charcot-Marie-Tooth disease, type 2J	AD
		Charcot-Marie-Tooth disease, dominant intermediate D	AD
		Charcot-Marie-Tooth disease, type 1B	AD
		Roussy-Levy syndrome	AD
MRPL3	607118	Combined oxidative phosphorylation deficiency 9	AR
MRPL44	611849	?Combined oxidative phosphorylation deficiency 16	AR
MSMO1	607545	Microcephaly, congenital cataract, and psoriasiform dermatitis	AR
MTHFR	607093	Neural tube defects, susceptibility to	AR
		Homocystinuria due to MTHFR deficiency	AR
		Schizophrenia, susceptibility to	AD
		Thromboembolism, susceptibility to	AD
MTM1	300415	Myotubular myopathy, X-linked	XLR
MTMR14	611089	Centronuclear myopathy, autosomal, modifier of	AD
MTO1	614667	Combined oxidative phosphorylation deficiency 10	AR
MTR	156570	Neural tube defects, folate-sensitive, susceptibility to	AR
MTR	156570	Homocystinuria-megaloblastic anemia, cblG complementation type	AR
MTRFR	613541	Spastic paraplegia 55, autosomal recessive	AR
MTRFR	613541	Combined oxidative phosphorylation deficiency 7	AR
MTRR	602568	Homocystinuria-megaloblastic anemia, cbl E type	AR
MTRR	602568	Neural tube defects, folate-sensitive, susceptibility to	AR
MUSK	601296	Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency	AR
MUSK	601296	Fetal akinesia deformation sequence 1	AR
MVK	251170	Mevalonic aciduria	AR
		Hyper-IgD syndrome	AR
		Porokeratosis 3, multiple types	AD
MYCN	164840	Feingold syndrome 1	AD
MYH9	160775	Deafness, autosomal dominant 17	AD
MYH9	160775	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss	AD
NAA10	300013	Ogden syndrome	XLD, XLR
NAA10	300013	Microphthalmia, syndromic 1	XL
NAGA	104170	Schindler disease, type III	AR
		Kanzaki disease	AR
		Schindler disease, type I	AR
NAGS	608300	N-acetylglutamate synthase deficiency	AR
NALCN	611549	Congenital contractures of the limbs and face, hypotonia, and developmental delay	AD
NALCN	611549	Hypotonia, infantile, with psychomotor retardation and characteristic facies 1	AR
NARS2	612803	?Deafness, autosomal recessive 94	AR
NARS2	612803	Combined oxidative phosphorylation deficiency 24	AR
NBAS	608025	Short stature, optic nerve atrophy, and Pelger-Huet anomaly	AR
NBAS	608025	Infantile liver failure syndrome 2	AR
NDUFA1	300078	Mitochondrial complex I deficiency, nuclear type 12	XLR
NDUFA10	603835	Mitochondrial complex I deficiency, nuclear type 22	AR
NDUFA11	612638	Mitochondrial complex I deficiency, nuclear type 14	AR
NDUFA2	602137	Mitochondrial complex I deficiency, nuclear type 13	AR
NDUFA9	603834	Mitochondrial complex I deficiency, nuclear type 26	AR
NDUFAF1	606934	Mitochondrial complex I deficiency, nuclear type 11	AR
NDUFAF2	609653	Mitochondrial complex I deficiency, nuclear type 10	AR
NDUFAF3	612911	Mitochondrial complex I deficiency, nuclear type 18	AR
NDUFAF4	611776	Mitochondrial complex I deficiency, nuclear type 15	AR
NDUFAF5	612360	Mitochondrial complex I deficiency, nuclear type 16	AR
NDUFAF6	612392	Mitochondrial complex I deficiency, nuclear type 17	AR
NDUFAF6	612392	Fanconi renotubular syndrome 5	AR
NDUFB3	603839	Mitochondrial complex I deficiency, nuclear type 25	AR
NDUFB9	-	?Mitochondrial complex I deficiency, nuclear type 24	AR
NDUFS1	157655	Mitochondrial complex I deficiency, nuclear type 5	AR
NDUFS2	602985	Mitochondrial complex I deficiency, nuclear type 6	AR
NDUFS3	603846	Mitochondrial complex I deficiency, nuclear type 8	AR
NDUFS4	602694	Mitochondrial complex I deficiency, nuclear type 1	AR
NDUFS6	603848	Mitochondrial complex I deficiency, nuclear type 9	AR
NDUFS7	601825	Mitochondrial complex I deficiency, nuclear type 3	AR
NDUFV1	161015	Mitochondrial complex I deficiency, nuclear type 4	AR
NDUFV2	600532	Mitochondrial complex I deficiency, nuclear type 7	AR
NEB	161650	Nemaline myopathy 2, autosomal recessive	AR
NEB	161650	Arthrogryposis multiplex congenita 6	AR
NEU1	608272	Sialidosis, type I	AR
NEU1	608272	Sialidosis, type II	AR
NEUROG3	604882	Diarrhea 4, malabsorptive, congenital	AR
NEXN	613121	Cardiomyopathy, hypertrophic, 20	AD
NEXN	613121	Cardiomyopathy, dilated, 1CC	AD
NFKB2	164012	Immunodeficiency, common variable, 10	AD
NFU1	-	Multiple mitochondrial dysfunctions syndrome 1	AR
NGF	162030	Neuropathy, hereditary sensory and autonomic, type V	AR
NGLY1	610661	Congenital disorder of deglycosylation	AR
NHEJ1	611290	Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation	-
NIPAL4	609383	Ichthyosis, congenital, autosomal recessive 6	AR
NIPBL	608667	Cornelia de Lange syndrome 1	AD
NKX2-1	600635	Chorea, hereditary benign	AD
		Choreoathetosis, hypothyroidism, and neonatal respiratory distress	AD
		Thyroid cancer, nonmedullary, 1	AD
NKX2-5	600584	Hypoplastic left heart syndrome 2	AD
		Hypothyroidism, congenital nongoitrous, 5	AD
		Atrial septal defect 7, with or without AV conduction defects	AD
		Conotruncal heart malformations, variable	-
		Ventricular septal defect 3	AD
		Tetralogy of Fallot	AD
NLRC4	606831	Autoinflammation with infantile enterocolitis	AD
NLRC4	606831	?Familial cold autoinflammatory syndrome 4	AD
NLRP3	606416	CINCA syndrome	AD
		Deafness, autosomal dominant 34, with or without inflammation	AD
		Keratoendothelitis fugax hereditaria	AD
		Familial cold inflammatory syndrome 1	AD
		Muckle-Wells syndrome	AD
NOTCH2	600275	Alagille syndrome 2	AD
NOTCH2	600275	Hajdu-Cheney syndrome	AD
NPC1	607623	Niemann-Pick disease, type C1	AR
NPC1	607623	Niemann-Pick disease, type D	AR
NPC2	601015	Niemann-pick disease, type C2	AR
NPHP1	607100	Joubert syndrome 4	AR
		Nephronophthisis 1, juvenile	AR
		Senior-Loken syndrome-1	AR
NPHP3	608002	Nephronophthisis 3	AR
		Meckel syndrome 7	AR
		Renal-hepatic-pancreatic dysplasia 1	AR
NR0B1	-	Adrenal hypoplasia, congenital	XLR
NR0B1	-	46XY sex reversal 2, dosage-sensitive	XL
NR3C2	600983	Hypertension, early-onset, autosomal dominant, with exacerbation in pregnancy	-
NR3C2	600983	Pseudohypoaldosteronism type I, autosomal dominant	AD
NRAS	164790	Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic	-
		Colorectal cancer, somatic	-
		Neurocutaneous melanosis, somatic	-
		?RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic	-
		Noonan syndrome 6	AD
		Melanocytic nevus syndrome, congenital, somatic	-
		Thyroid carcinoma, follicular, somatic	-
		Epidermal nevus, somatic	-
NSD1	606681	Sotos syndrome 1	AD
NSDHL	300275	CK syndrome	XLR
NSDHL	300275	CHILD syndrome	XLD
NUBPL	613621	Mitochondrial complex I deficiency, nuclear type 21	AR
OAT	613349	Gyrate atrophy of choroid and retina with or without ornithinemia	AR
OCLN	602876	Pseudo-TORCH syndrome 1	AR
OCRL	-	Lowe syndrome	XLR
OCRL	-	Dent disease 2	XLR
ODAD1	615038	Ciliary dyskinesia, primary, 20	AR
OPA3	606580	3-methylglutaconic aciduria, type III	AR
OPA3	606580	Optic atrophy 3 with cataract	AD
OPHN1	300127	Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance	XLR
ORC1	601902	Meier-Gorlin syndrome 1	AR
ORC4	603056	Meier-Gorlin syndrome 2	AR
OTC	300461	Ornithine transcarbamylase deficiency	XL
OTX2	600037	Retinal dystrophy, early-onset, with or without pituitary dysfunction	AD
		Microphthalmia, syndromic 5	AD
		Pituitary hormone deficiency, combined, 6	AD
OXCT1	-	Succinyl CoA:3-oxoacid CoA transferase deficiency	AR
PAFAH1B1	601545	Subcortical laminar heterotopia	AD
PAFAH1B1	601545	Lissencephaly 1	AD
PAH	612349	Phenylketonuria	AR
PAH	612349	[Hyperphenylalaninemia, non-PKU mild]	AR
PAX2	167409	Glomerulosclerosis, focal segmental, 7	AD
PAX2	167409	Papillorenal syndrome	AD
PAX3	606597	Waardenburg syndrome, type 3	AD, AR
		Rhabdomyosarcoma 2, alveolar	SM
		Craniofacial-deafness-hand syndrome	AD
		Waardenburg syndrome, type 1	AD
PAX6	607108	?Coloboma, ocular	AD
		Aniridia	AD
		?Morning glory disc anomaly	AD
		Keratitis	AD
		Optic nerve hypoplasia	AD
		?Coloboma of optic nerve	AD
		Anterior segment dysgenesis 5, multiple subtypes	AD
		Cataract with late-onset corneal dystrophy	AD
		Foveal hypoplasia 1	AD
PAX8	167415	Hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia	AD
PC	608786	Pyruvate carboxylase deficiency	AR
PCBD1	126090	Hyperphenylalaninemia, BH4-deficient, D	AR
PCCA	232000	Propionicacidemia	AR
PCCB	232050	Propionicacidemia	AR
PCDH19	300460	Developmental and epileptic encephalopathy 9	XL
PCNT	605925	Microcephalic osteodysplastic primordial dwarfism, type II	AR
PDCD10	609118	Cerebral cavernous malformations 3	AD
PDE10A	610652	Dyskinesia, limb and orofacial, infantile-onset	AR
PDE10A	610652	Striatal degeneration, autosomal dominant	AD
PDHA1	-	Pyruvate dehydrogenase E1-alpha deficiency	XLD
PDHB	179060	Pyruvate dehydrogenase E1-beta deficiency	AR
PDHX	608769	Lacticacidemia due to PDX1 deficiency	AR
PDP1	605993	Pyruvate dehydrogenase phosphatase deficiency	AR
PDSS2	610564	Coenzyme Q10 deficiency, primary, 3	AR
PDX1	600733	Pancreatic agenesis 1	AR
		MODY, type IV	-
		Diabetes mellitus, type II, susceptibility to	AD
PEPD	613230	Prolidase deficiency	AR
PEX1	602136	Peroxisome biogenesis disorder 1A (Zellweger)	AR
		Peroxisome biogenesis disorder 1B (NALD/IRD)	AR
		Heimler syndrome 1	AR
PEX10	602859	Peroxisome biogenesis disorder 6A (Zellweger)	AR
PEX10	602859	Peroxisome biogenesis disorder 6B	AR
PEX12	601758	Peroxisome biogenesis disorder 3B	AR
PEX12	601758	Peroxisome biogenesis disorder 3A (Zellweger)	AR
PEX13	601789	Peroxisome biogenesis disorder 11B	AR
PEX13	601789	Peroxisome biogenesis disorder 11A (Zellweger)	AR
PEX14	601791	Peroxisome biogenesis disorder 13A (Zellweger)	AR
PEX16	603360	Peroxisome biogenesis disorder 8A (Zellweger)	AR
PEX16	603360	Peroxisome biogenesis disorder 8B	AR
PEX19	600279	Peroxisome biogenesis disorder 12A (Zellweger)	AR
PEX2	170993	Peroxisome biogenesis disorder 5B	AR
PEX2	170993	Peroxisome biogenesis disorder 5A (Zellweger)	AR
PEX26	608666	Peroxisome biogenesis disorder 7A (Zellweger)	AR
PEX26	608666	Peroxisome biogenesis disorder 7B	AR
PEX3	603164	Peroxisome biogenesis disorder 10A (Zellweger)	AR
PEX3	603164	?Peroxisome biogenesis disorder 10B	AR
PEX5	600414	Rhizomelic chondrodysplasia punctata, type 5	AR
		Peroxisome biogenesis disorder 2B	AR
		Peroxisome biogenesis disorder 2A (Zellweger)	AR
PEX6	-	Peroxisome biogenesis disorder 4B	AD, AR
		Peroxisome biogenesis disorder 4A (Zellweger)	AR
		Heimler syndrome 2	AR
PEX7	601757	Peroxisome biogenesis disorder 9B	AR
PEX7	601757	Rhizomelic chondrodysplasia punctata, type 1	AR
PGAP1	611655	Mental retardation, autosomal recessive 42	AR
PGM1	171900	Congenital disorder of glycosylation, type It	AR
PHGDH	606879	Phosphoglycerate dehydrogenase deficiency	AR
PHGDH	606879	Neu-Laxova syndrome 1	AR
PHKG2	172471	Glycogen storage disease IXc	AR
PHOX2B	603851	Central hypoventilation syndrome, congenital, with or without Hirschsprung disease	AD
		Neuroblastoma, susceptibility to, 2	-
		Neuroblastoma with Hirschsprung disease	-
PIGA	311770	Paroxysmal nocturnal hemoglobinuria, somatic	-
		Multiple congenital anomalies-hypotonia-seizures syndrome 2	XLR
		Neurodevelopmental disorder with epilepsy and hemochromatosis	-
PIGN	606097	Multiple congenital anomalies-hypotonia-seizures syndrome 1	AR
PIGT	610272	Multiple congenital anomalies-hypotonia-seizures syndrome 3	AR
PIGT	610272	?Paroxysmal nocturnal hemoglobinuria 2	AD, SM
PIGV	610274	Hyperphosphatasia with mental retardation syndrome 1	AR
PIK3CD	602839	Immunodeficiency 14	AD
		?Roifman-Chitayat syndrome, digenic	DR
		Immunodeficiency 14B, autosomal recessive	AR
PKD2	173910	Polycystic kidney disease 2	AD
PKHD1	606702	Polycystic kidney disease 4, with or without hepatic disease	AR
PKLR	609712	Adenosine triphosphate, elevated, of erythrocytes	AD
PKLR	609712	Pyruvate kinase deficiency	AR
PLCB4	600810	Auriculocondylar syndrome 2	AD, AR
PLEC	601282	Epidermolysis bullosa simplex, Ogna type	AD
		Epidermolysis bullosa simplex with muscular dystrophy	AR
		?Epidermolysis bullosa simplex with nail dystrophy	AR
		Epidermolysis bullosa simplex with pyloric atresia	AR
		Muscular dystrophy, limb-girdle, autosomal recessive 17	AR
PLOD1	153454	Ehlers-Danlos syndrome, kyphoscoliotic type, 1	AR
PLP1	300401	Pelizaeus-Merzbacher disease	XLR
PLP1	300401	Spastic paraplegia 2, X-linked	XLR
PMM2	601785	Congenital disorder of glycosylation, type Ia	AR
PMP22	601097	Neuropathy, recurrent, with pressure palsies	AD
		Dejerine-Sottas disease	AD, AR
		Roussy-Levy syndrome	AD
		?Neuropathy, inflammatory demyelinating	?AD
		Charcot-Marie-Tooth disease, type 1E	AD
		Charcot-Marie-Tooth disease, type 1A	AD
PNKP	605610	Ataxia-oculomotor apraxia 4	AR
		Microcephaly, seizures, and developmental delay	AR
		?Charcot-Marie-Tooth disease, type 2B2	AR
PNP	164050	Immunodeficiency due to purine nucleoside phosphorylase deficiency	AR
PNPLA1	612121	Ichthyosis, congenital, autosomal recessive 10	AR
PNPO	603287	Pyridoxamine 5'-phosphate oxidase deficiency	AR
PNPT1	610316	Deafness, autosomal recessive 70	AR
		Combined oxidative phosphorylation deficiency 13	AR
		Spinocerebellar ataxia 25	-
POGZ	614787	White-Sutton syndrome	AD
POLG	174763	Progressive external ophthalmoplegia, autosomal recessive 1	AR
		Progressive external ophthalmoplegia, autosomal dominant 1	AD
		Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE)	AR
		Mitochondrial DNA depletion syndrome 4B (MNGIE type)	AR
		Mitochondrial DNA depletion syndrome 4A (Alpers type)	AR
POLG2	604983	Mitochondrial DNA depletion syndrome 16 (hepatic type)	AR
		?Mitochondrial DNA depletion syndrome 16B (neuroophthalmic type)	AR
		Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4	AD
POMGNT1	606822	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3	AR
		Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 3	AR
		Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3	AR
		Retinitis pigmentosa 76	AR
POMGNT2	614828	Muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 8	AR
POMGNT2	614828	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8	AR
POMK	615247	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12	AR
POMK	615247	?Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 12	AR
POMT1	607423	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1	AR
		Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1	AR
		Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1	AR
POMT2	607439	Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 2	AR
		Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2	AR
		Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2	AR
POU1F1	173110	Pituitary hormone deficiency, combined, 1	AD, AR
PPT1	600722	Ceroid lipofuscinosis, neuronal, 1	AR
PRDM16	605557	Cardiomyopathy, dilated, 1LL	AD
PRDM16	605557	Left ventricular noncompaction 8	AD
PRKAG2	602743	Glycogen storage disease of heart, lethal congenital	AD
		Cardiomyopathy, hypertrophic 6	AD
		Wolff-Parkinson-White syndrome	AD
PRKAR1A	188830	Myxoma, intracardiac	AD
		Pigmented nodular adrenocortical disease, primary, 1	AD
		Carney complex, type 1	AD
		Acrodysostosis 1, with or without hormone resistance	AD
PROC	612283	Thrombophilia due to protein C deficiency, autosomal dominant	AD
PROC	612283	Thrombophilia due to protein C deficiency, autosomal recessive	AR
PRODH	606810	Schizophrenia, susceptibility to, 4	AD
PRODH	606810	Hyperprolinemia, type I	AR
PROP1	601538	Pituitary hormone deficiency, combined, 2	AR
PROS1	176880	Thrombophilia due to protein S deficiency, autosomal recessive	AR
PROS1	176880	Thrombophilia due to protein S deficiency, autosomal dominant	AD
PRPS1	311850	Charcot-Marie-Tooth disease, X-linked recessive, 5	XLR
		Deafness, X-linked 1	XL
		Phosphoribosylpyrophosphate synthetase superactivity	XLR
		Arts syndrome	XLR
		Gout, PRPS-related	XLR
PRRT2	614386	Episodic kinesigenic dyskinesia 1	AD
		Convulsions, familial infantile, with paroxysmal choreoathetosis	AD
		Seizures, benign familial infantile, 2	AD
PSAP	176801	Combined SAP deficiency	AR
		Gaucher disease, atypical	-
		Krabbe disease, atypical	AR
		Parkinson disease 24, autosomal dominant, susceptibility to	AD
		Metachromatic leukodystrophy due to SAP-b deficiency	AR
PSAT1	610936	Neu-Laxova syndrome 2	AR
PSAT1	610936	?Phosphoserine aminotransferase deficiency	AR
PSPH	172480	Phosphoserine phosphatase deficiency	AR
PTPN11	176876	Leukemia, juvenile myelomonocytic, somatic	-
		LEOPARD syndrome 1	AD
		Metachondromatosis	AD
		Noonan syndrome 1	AD
PTPRC	151460	Severe combined immunodeficiency, T cell-negative, B-cell/natural killer-cell positive	AR
		Hepatitis C virus, susceptibility to	-
		Immunodeficiency 105, severe combined	-
PTRH2	608625	Infantile-onset multisystem neurologic, endocrine, and pancreatic disease	AR
PTS	612719	Hyperphenylalaninemia, BH4-deficient, A	AR
PURA	600473	Mental retardation, autosomal dominant 31	AD
QDPR	612676	Hyperphenylalaninemia, BH4-deficient, C	AR
RAB18	602207	Warburg micro syndrome 3	AR
RAB3GAP1	602536	Martsolf syndrome 2	AR
RAB3GAP1	602536	Warburg micro syndrome 1	AR
RAB3GAP2	609275	Warburg micro syndrome 2	AR
RAB3GAP2	609275	Martsolf syndrome	AR
RAC2	602049	?Immunodeficiency 73C with defective neutrophil chemotaxis and hypogammaglobulinemia	AR
		Immunodeficiency 73A with defective neutrophil chemotaxix and leukocytosis	AD
		Immunodeficiency 73B with defective neutrophil chemotaxis and lymphopenia	AD
RAF1	164760	Noonan syndrome 5	AD
		LEOPARD syndrome 2	-
		Cardiomyopathy, dilated, 1NN	AD
RAG1	179615	Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity	-
		Omenn syndrome	AR
		Severe combined immunodeficiency, B cell-negative	AR
		Combined cellular and humoral immune defects with granulomas	AR
RAG2	179616	Omenn syndrome	AR
		Combined cellular and humoral immune defects with granulomas	AR
		Severe combined immunodeficiency, B cell-negative	AR
RANBP2	601181	Encephalopathy, acute, infection-induced, 3, susceptibility to	AD
RAPSN	601592	Fetal akinesia deformation sequence 2	AR
RAPSN	601592	Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency	AR
RARS2	611524	Pontocerebellar hypoplasia, type 6	AR
RB1	614041	Bladder cancer, somatic	-
		Retinoblastoma, trilateral	AD, SM
		Small cell cancer of the lung, somatic	-
		Osteosarcoma, somatic	-
		Retinoblastoma	AD, SM
RBBP8	604124	Seckel syndrome 2	AR
RBBP8	604124	Jawad syndrome	AR
RBM8A	605313	Thrombocytopenia-absent radius syndrome	AR
RET	164761	Hirschsprung disease, susceptibility to, 1	AD
		Multiple endocrine neoplasia IIA	AD
		Medullary thyroid carcinoma	AD
		Pheochromocytoma	AD
		Multiple endocrine neoplasia IIB	AD
		Hirschsprung disease, protection against	AD
		Central hypoventilation syndrome, congenital	AD
RFT1	611908	Congenital disorder of glycosylation, type In	AR
RFX5	601863	Bare lymphocyte syndrome, type II, complementation group E	AR
RFX5	601863	Bare lymphocyte syndrome, type II, complementation group C	AR
RFX6	612659	Mitchell-Riley syndrome	AR
RIT1	609591	Noonan syndrome 8	AD
RMND1	614917	Combined oxidative phosphorylation deficiency 11	AR
RNASEH2C	610330	Aicardi-Goutieres syndrome 3	AR
RNASET2	612944	Leukoencephalopathy, cystic, without megalencephaly	AR
RORC	602943	Immunodeficiency 42	AR
RPS19	603474	Diamond-Blackfan anemia 1	AD
RRM2B	604712	Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy)	AR
		Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5	AD
		Mitochondrial DNA depletion syndrome 8B (MNGIE type)	AR
		Rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction	AR
RXYLT1	605862	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 10	AR
RYR1	180901	Malignant hyperthermia susceptibility 1	AD
		King-Denborough syndrome	AD
		King-Denborough syndrome	AD
		Central core disease	AD, AR
		Neuromuscular disease, congenital, with uniform type 1 fiber	AD, AR
		Minicore myopathy with external ophthalmoplegia	AR
SALL1	602218	Townes-Brocks branchiootorenal-like syndrome	AD
SALL1	602218	Townes-Brocks syndrome 1	AD
SATB2	608148	Glass syndrome	AD
SBDS	607444	Aplastic anemia, susceptibility to	-
SBDS	607444	Shwachman-Diamond syndrome	AR
SCN1A	182389	Epilepsy, generalized, with febrile seizures plus, type 2	AD
		Migraine, familial hemiplegic, 3	AD
		Developmental and epileptic encephalopathy 6B, non-Dravet	AD
		Febrile seizures, familial, 3A	AD
		Dravet syndrome	AD
SCN2A	182390	Developmental and epileptic encephalopathy 11	AD
		Seizures, benign familial infantile, 3	AD
		Episodic ataxia, type 9	AD
SCN4A	603967	Paramyotonia congenita	AD
		Myotonia congenita, atypical, acetazolamide-responsive	AD
		Myasthenic syndrome, congenital, 16	AR
		Hyperkalemic periodic paralysis, type 2	AD
		Hypokalemic periodic paralysis, type 2	AD
SCN5A	600163	Heart block, nonprogressive	AD
		Ventricular fibrillation, familial, 1	-
		Sick sinus syndrome 1	AR
		Brugada syndrome 1	AD
		Heart block, progressive, type IA	AD
		Atrial fibrillation, familial, 10	AD
		Long QT syndrome 3	AD
		Cardiomyopathy, dilated, 1E	AD
		Sudden infant death syndrome, susceptibility to	AR
SCN9A	603415	Erythermalgia, primary	AD
		Generalized epilepsy with febrile seizures plus, type 7	AD
		Febrile seizures, familial, 3B	AD
		Neuropathy, hereditary sensory and autonomic, type IID	AR
		Insensitivity to pain, congenital	AR
		Paroxysmal extreme pain disorder	AD
		Small fiber neuropathy	AD
SCO1	603644	Mitochondrial complex IV deficiency, nuclear type 4	AR
SCO2	604272	Myopia 6	AD
SCO2	604272	Mitochondrial complex IV deficiency, nuclear type 2	AR
SDHA	600857	Neurodegeneration with ataxia and late-onset optic atrophy	AD
		Cardiomyopathy, dilated, 1GG	AR
		Leigh syndrome	AR, Mitochondrial
		Mitochondrial respiratory chain complex II deficiency	AR
		Paragangliomas 5	AD
SDHAF1	612848	Mitochondrial complex II deficiency, nuclear type 2	AR
SDHAF1	612848	Mitochondrial complex II deficiency	AR
SECISBP2	607693	Thyroid hormone metabolism, abnormal	AR
SELENON	606210	Muscular dystrophy, rigid spine, 1	AR
SELENON	606210	Myopathy, congenital, with fiber-type disproportion	AD, AR
SERAC1	614725	3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome	AR
SERPINC1	107300	Thrombophilia due to antithrombin III deficiency	AD, AR
SERPING1	606860	Complement component 4, partial deficiency of	AD
SERPING1	606860	Angioedema, hereditary, types I and II	AD, AR
SFTPB	178640	Surfactant metabolism dysfunction, pulmonary, 1	AR
SFTPC	178620	Surfactant metabolism dysfunction, pulmonary, 2	AD
SHOC2	602775	Noonan syndrome-like with loose anagen hair 1	AD
SIL1	608005	Marinesco-Sjogren syndrome	AR
SIX3	603714	Holoprosencephaly 2	AD
SIX3	603714	Schizencephaly	-
SIX5	600963	Branchiootorenal syndrome 2	-
SKI	164780	Shprintzen-Goldberg syndrome	AD
SLC12A6	604878	Agenesis of the corpus callosum with peripheral neuropathy	AR
SLC12A6	604878	Charcot-Marie-Tooth disease, axonal, type 2II	-
SLC16A1	600682	Hyperinsulinemic hypoglycemia, familial, 7	AD
		Erythrocyte lactate transporter defect	AD
		Monocarboxylate transporter 1 deficiency	AD, AR
SLC16A2	300095	Allan-Herndon-Dudley syndrome	XL
SLC17A5	604322	Sialic acid storage disorder, infantile	AR
SLC17A5	604322	Salla disease	AR
SLC19A2	603941	Thiamine-responsive megaloblastic anemia syndrome	AR
SLC19A3	606152	Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2)	AR
SLC22A5	603377	Carnitine deficiency, systemic primary	AR
SLC25A1	190315	Myasthenic syndrome, congenital, 23, presynaptic	AR
SLC25A1	190315	Combined D-2- and L-2-hydroxyglutaric aciduria	AR
SLC25A12	603667	Developmental and epileptic encephalopathy 39	AR
SLC25A13	603859	Citrullinemia, type II, neonatal-onset	AR
SLC25A13	603859	Citrullinemia, adult-onset type II	AR
SLC25A15	603861	Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome	AR
SLC25A19	606521	Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type)	AR
SLC25A19	606521	Microcephaly, Amish type	AR
SLC25A20	613698	Carnitine-acylcarnitine translocase deficiency	AR
SLC25A22	609302	Developmental and epileptic encephalopathy 3	AR
SLC25A3	600370	Mitochondrial phosphate carrier deficiency	AR
SLC26A2	606718	Diastrophic dysplasia, broad bone-platyspondylic variant	AR
		Achondrogenesis Ib	AR
		Epiphyseal dysplasia, multiple, 4	AR
		De la Chapelle dysplasia	AR
		Diastrophic dysplasia	AR
		Atelosteogenesis, type II	AR
SLC26A3	126650	Diarrhea 1, secretory chloride, congenital	AR
SLC26A4	605646	Pendred syndrome	AR
SLC26A4	605646	Deafness, autosomal recessive 4, with enlarged vestibular aqueduct	AR
SLC2A1	138140	GLUT1 deficiency syndrome 2, childhood onset	AD
		GLUT1 deficiency syndrome 1, infantile onset, severe	AD, AR
		Epilepsy, idiopathic generalized, susceptibility to, 12	AD
		Stomatin-deficient cryohydrocytosis with neurologic defects	AD
		Dystonia 9	AD
SLC30A2	609617	Zinc deficiency, transient neonatal	AD
SLC33A1	603690	Congenital cataracts, hearing loss, and neurodegeneration	AR
SLC33A1	603690	Spastic paraplegia 42, autosomal dominant	AD
SLC3A1	104614	Cystinuria	AD, AR
SLC4A1	109270	[Blood group, Wright]	-
		Distal renal tubular acidosis 1	AD
		Ovalocytosis, SA type	AD
		[Malaria, resistance to]	-
		[Blood group, Swann]	-
		[Blood group, Froese]	-
		[Blood group, Waldner]	-
		Cryohydrocytosis	AD
		[Blood group, Diego]	-
		Distal renal tubular acidosis 4 with hemolytic anemia	AR
		Spherocytosis, type 4	AD
SLC52A1	607883	Riboflavin deficiency	AD
SLC52A3	613350	?Fazio-Londe disease	AR
SLC52A3	613350	Brown-Vialetto-Van Laere syndrome 1	AR
SLC5A1	182380	Glucose/galactose malabsorption	AR
SLC5A5	601843	Thyroid dyshormonogenesis 1	AR
SLC6A1	137165	Myoclonic-atonic epilepsy	AD
SLC6A3	126455	Nicotine dependence, protection against	-
SLC6A3	126455	Parkinsonism-dystonia, infantile, 1	AR
SLC6A5	604159	Hyperekplexia 3	AD, AR
SLC7A7	603593	Lysinuric protein intolerance	AR
SLC7A9	604144	Cystinuria	AD, AR
SLCO1B1	604843	Hyperbilirubinemia, Rotor type, digenic	DR
SLCO1B3	605495	Hyperbilirubinemia, Rotor type, digenic	DR
SMPD1	607608	Niemann-Pick disease, type A	AR
SMPD1	607608	Niemann-Pick disease, type B	AR
SNAI2	602150	Waardenburg syndrome, type 2D	AR
SNAI2	602150	Piebaldism	AD
SNX10	614780	Osteopetrosis, autosomal recessive 8	AR
SOS1	182530	Noonan syndrome 4	AD
SOS1	182530	?Fibromatosis, gingival, 1	AD
SOX10	602229	Waardenburg syndrome, type 4C	AD
		PCWH syndrome	AD
		Waardenburg syndrome, type 2E, with or without neurologic involvement	AD
SOX2	184429	Microphthalmia, syndromic 3	AD
SOX2	184429	Optic nerve hypoplasia and abnormalities of the central nervous system	AD
SOX9	608160	Acampomelic campomelic dysplasia	AD
		Campomelic dysplasia	AD
		Campomelic dysplasia with autosomal sex reversal	AD
SPAST	604277	Spastic paraplegia 4, autosomal dominant	AD
SPEG	615950	Centronuclear myopathy 5	AR
SPINK5	605010	Netherton syndrome	AR
SPINT2	605124	Diarrhea 3, secretory sodium, congenital, syndromic	AR
SPR	182125	Dystonia, dopa-responsive, due to sepiapterin reductase deficiency	?AD, AR
SPRED1	609291	Legius syndrome	AD
SPTA1	182860	Pyropoikilocytosis	AR
		Elliptocytosis-2	AD
		Spherocytosis, type 3	AR
SPTAN1	182810	Developmental and epileptic encephalopathy 5	AD
SPTB	182870	Spherocytosis, type 2	AD
		Elliptocytosis-3	-
		Anemia, neonatal hemolytic, fatal or near-fatal	-
SRD5A3	611715	Congenital disorder of glycosylation, type Iq	AR
SRD5A3	611715	Kahrizi syndrome	AR
ST3GAL3	606494	?Developmental and epileptic encephalopathy 15	AR
ST3GAL3	606494	Mental retardation, autosomal recessive 12	AR
ST3GAL5	604402	Salt and pepper developmental regression syndrome	AR
STAR	600617	Lipoid adrenal hyperplasia	AR
STAT1	600555	Immunodeficiency 31C, chronic mucocutaneous candidiasis, autosomal dominant	AD
		Immunodeficiency 31B, mycobacterial and viral infections, autosomal recessive	AR
		Immunodeficiency 31A, mycobacteriosis, autosomal dominant	AD
STAT3	102582	Hyper-IgE recurrent infection syndrome	AD
STAT3	102582	Autoimmune disease, multisystem, infantile-onset, 1	AD
STIL	181590	Microcephaly 7, primary, autosomal recessive	AR
STIM1	605921	Myopathy, tubular aggregate, 1	AD
		Stormorken syndrome	AD
		Immunodeficiency 10	AR
STING1	612374	STING-associated vasculopathy, infantile-onset	AD
STS	300747	Ichthyosis, X-linked	XLR
STT3B	608605	?Congenital disorder of glycosylation, type Ix	AR
STXBP1	602926	Developmental and epileptic encephalopathy 4	AD
SUCLA2	603921	Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)	AR
SUCLG1	611224	Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria)	AR
SUMF1	607939	Multiple sulfatase deficiency	AR
SUOX	606887	Sulfite oxidase deficiency	AR
SYNE1	608441	Arthrogryposis multiplex congenita 3, myogenic type	AR
		Emery-Dreifuss muscular dystrophy 4, autosomal dominant	AD
		Spinocerebellar ataxia, autosomal recessive 8	AR
TACO1	612958	Mitochondrial complex IV deficiency, nuclear type 8	AR
TAFAZZIN	300394	Barth syndrome	XLR
TAT	613018	Tyrosinemia, type II	AR
TBC1D24	613577	Deafness, autosomal dominant 65	AD
		Deafness, autosomal recessive 86	AR
		Myoclonic epilepsy, infantile, familial	AR
		Developmental and epileptic encephalopathy 16	AR
		DOORS syndrome	AR
		Epilepsy, rolandic, with proxysmal exercise-induce dystonia and writer's cramp	AR
TBCE	604934	Hypoparathyroidism-retardation-dysmorphism syndrome	AR
		Encephalopathy, progressive, with amyotrophy and optic atrophy	AR
		Kenny-Caffey syndrome, type 1	AR
TBL1X	300196	Hypothyroidism, congenital, nongoitrous, 8	XL
TBX19	604614	Adrenocorticotropic hormone deficiency	AR
TBX5	601620	Holt-Oram syndrome	AD
TCAP	604488	Muscular dystrophy, limb-girdle, autosomal recessive 7	AR
TCAP	604488	Cardiomyopathy, hypertrophic, 25	AD
TCN2	613441	Transcobalamin II deficiency	AR
TFR2	604720	Hemochromatosis, type 3	AR
TG	188450	Thyroid dyshormonogenesis 3	AR
TG	188450	Autoimmune thyroid disease, susceptibility to, 3	-
TGM1	190195	Ichthyosis, congenital, autosomal recessive 1	AR
TH	191290	Segawa syndrome, recessive	AR
THRA	190120	Hypothyroidism, congenital, nongoitrous, 6	AD
THRB	190160	Thyroid hormone resistance, autosomal recessive	AR
		Thyroid hormone resistance	AD
		Thyroid hormone resistance, selective pituitary	AD
TJP2	607709	Hypercholanemia, familial	AR
TJP2	607709	Cholestasis, progressive familial intrahepatic 4	AR
TMCO1	614123	Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome	AR
TMEM165	614726	Congenital disorder of glycosylation, type IIk	AR
TMEM70	612418	Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2	AR
TNFRSF13B	604907	Immunodeficiency, common variable, 2	AD, AR
TNFRSF13B	604907	Immunoglobulin A deficiency 2	-
TNFRSF13C	606269	Immunodeficiency, common variable, 4	AR
TNFSF4	603594	Myocardial infarction, susceptibility to	-
TNNT1	191041	Nemaline myopathy 5, Amish type	AR
TP63	603273	Rapp-Hodgkin syndrome	AD
		Orofacial cleft 8	-
		Limb-mammary syndrome	AD
		Split-hand/foot malformation 4	AD
		Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3	AD
		Hay-Wells syndrome	AD
		ADULT syndrome	AD
TPM2	190990	Arthrogryposis, distal, type 2B4	AD
		Arthrogryposis, distal, type 1A	AD
		CAP myopathy 2	AD
		Nemaline myopathy 4, autosomal dominant	AD
TPM3	191030	Myopathy, congenital, with fiber-type disproportion	AD, AR
		Nemaline myopathy 1, autosomal dominant or recessive	AD, AR
		CAP myopathy 1	AD, AR
TPO	606765	Thyroid dyshormonogenesis 2A	AR
TPP1	607998	Ceroid lipofuscinosis, neuronal, 2	AR
TPP1	607998	Spinocerebellar ataxia, autosomal recessive 7	AR
TRH	613879	Thyrotropin-releasing hormone deficiency	AR
TRHR	188545	Hypothyroidism, congenital, nongoitrous, 7	AR
TRIP11	604505	Achondrogenesis, type IA	AR
TRIP11	604505	Osteochondrodysplasia	AR
TRMU	610230	Liver failure, transient infantile	AR
TRMU	610230	Deafness, mitochondrial, modifier of	Mitochondrial
TRPV4	605427	SED, Maroteaux type	AD
		Spondylometaphyseal dysplasia, Kozlowski type	AD
		Metatropic dysplasia	AD
		Brachyolmia type 3	AD
		Neuronopathy, distal hereditary motor, type VIII	AD
		[Sodium serum level QTL 1]	-
		?Avascular necrosis of femoral head, primary, 2	AD
		Scapuloperoneal spinal muscular atrophy	AD
		Parastremmatic dwarfism	AD
		Hereditary motor and sensory neuropathy, type IIc	AD
		Digital arthropathy-brachydactyly, familial	AD
TSC1	605284	Lymphangioleiomyomatosis	-
		Focal cortical dysplasia, type II, somatic	-
		Tuberous sclerosis-1	AD
TSC2	191092	?Focal cortical dysplasia, type II, somatic	-
		Lymphangioleiomyomatosis, somatic	-
		Tuberous sclerosis-2	AD
TSFM	604723	Combined oxidative phosphorylation deficiency 3	AR
TSHB	188540	Hypothyroidism, congenital, nongoitrous 4	AR
TSHR	603372	Hyperthyroidism, nonautoimmune	AD
		Hypothyroidism, congenital, nongoitrous, 1	AR
		Hyperthyroidism, familial gestational	AD
TSPYL1	604714	Sudden infant death with dysgenesis of the testes syndrome	AR
TTC7A	609332	Gastrointestinal defects and immunodeficiency syndrome	AR
TTN	188840	Cardiomyopathy, dilated, 1G	-
		Muscular dystrophy, limb-girdle, autosomal recessive 10	AR
		Tibial muscular dystrophy, tardive	AD
		Myopathy, myofibrillar, 9, with early respiratory failure	AD
		Salih myopathy	AR
		Cardiomyopathy, familial hypertrophic, 9	AD
TUBA8	605742	Macrothrombocytopenia, isolated, 2, autosomal dominant	-
TUBA8	605742	Cortical dysplasia, complex, with other brain malformations 8	AR
TUBB1	612901	Macrothrombocytopenia, autosomal dominant, TUBB1-related	AD
TUBB2A	615101	Cortical dysplasia, complex, with other brain malformations 5	AD
TWNK	606075	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3	AD
		Perrault syndrome 5	AR
		Mitochondrial DNA depletion syndrome 7 (hepatocerebral type)	AR
UBA1	314370	VEXAS syndrome, somatic	-
UBA1	314370	Spinal muscular atrophy, X-linked 2, infantile	XLR
UBR1	605981	Johanson-Blizzard syndrome	AR
UGT1A1	191740	[Gilbert syndrome]	AR
		Crigler-Najjar syndrome, type II	AR
		Crigler-Najjar syndrome, type I	AR
		Hyperbilirubinemia, familial transient neonatal	AD, AR
		[Bilirubin, serum level of, QTL1]	-
UMPS	613891	Orotic aciduria	AR
UNG	191525	Immunodeficiency with hyper IgM, type 5	AR
UPB1	606673	Beta-ureidopropionase deficiency	AR
UQCRC2	191329	Mitochondrial complex III deficiency, nuclear type 5	AR
UROD	613521	Porphyria, hepatoerythropoietic	AD, AR
UROD	613521	Porphyria cutanea tarda	AD, AR
UROS	606938	Porphyria, congenital erythropoietic	AR
WAS	300392	Wiskott-Aldrich syndrome	XLR
		Thrombocytopenia, X-linked	XLR
		Neutropenia, severe congenital, X-linked	XLR
		Thrombocytopenia, X-linked, intermittent	XLR
WDPCP	613580	Congenital heart defects, hamartomas of tongue, and polysyndactyly	AR
WDPCP	613580	?Bardet-Biedl syndrome 15	AR
WDR62	613583	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations	AR
WDR73	616144	Galloway-Mowat syndrome 1	AR
WFS1	606201	?Cataract 41	AD
		Wolfram-like syndrome, autosomal dominant	AD
		Wolfram syndrome 1	AR
		Diabetes mellitus, noninsulin-dependent, association with	AD
		Deafness, autosomal dominant 6/14/38	AD
WNK1	605232	Neuropathy, hereditary sensory and autonomic, type II	AR
WNK1	605232	Pseudohypoaldosteronism, type IIC	AD
WT1	607102	Denys-Drash syndrome	AD, SM
		Mesothelioma, somatic	-
		Frasier syndrome	AD, SM
		Meacham syndrome	AD
		Wilms tumor, type 1	AD, SM
		Nephrotic syndrome, type 4	AD
ZAP70	176947	Autoimmune disease, multisystem, infantile-onset, 2	AR
ZAP70	176947	Immunodeficiency 48	AR
ZEB2	605802	Mowat-Wilson syndrome	AD
ZFP57	612192	Diabetes mellitus, transient neonatal 1	AD
ZNF423	604557	Joubert syndrome 19	AD, AR
ZNF423	604557	Nephronophthisis 14	AD, AR

COMMON SYNDROMES AND DISORDERS COVERED

Alagille syndrome
Alpha-Thalassemia
Arginase deficiency
Beta-Thalassemia
Biotinidase deficiency
Biotin-thiamine-responsive basal ganglia disease
Carnitine deficiency
Congenital hypothyroidism
Cystic Fibrosis
Dystonia DOPA responsive
Factor VII deficiency
Glucose transporter 1 deficiency
Glutaric acidemia Type 1
Hereditary fructose intolerance
Holocarboxylase synthetase deficiency
Maple syrup urine disease (MSUD)
Non ketotic hyperglicinemia
Phenylketonuria
Pompe disease
Primary coenzyme Q10 deficiency
Pyridoxamine 5 phosphate oxidase deficiency
Pyridoxine-dependent epilepsy
Pyruvate carboxylase deficiency
Tuberous sclerosis complex
Tyrosinemia type I
VLCAD deficiency

*List does not include all disorders covered by our panel

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CentoIEM

Inborn Errors of Metabolism (IEM) largely impact human diseases. CentoIEM is a metabolic and liver disease gene panel that screens for an array of different disorders and contains genes responsible for diverse phenotypes, including intermediary metabolism, such as aminoacidopathies, organic acidurias, urea cycle disorders, sugar intolerance, mental disorders, and porphyrias, among others. Genes linked to cytoplasmic and mitochondrial energetic processes and metabolism affecting cellular organelles, such as lysosomal, peroxisomal, glycosylation, and cholesterol synthesis are also included.

No. of genes:	744
TAT:	25 business days
Coverage:	≥99.00% ≥20x
Details:	NGS including CNV analysis

Order now Sample Requirements

Gene	OMIM (Gene)	Associated diseases (OMIM)	Inheritance
AARS2	612035	Combined oxidative phosphorylation deficiency 8	AR
AARS2	612035	Leukoencephalopathy, progressive, with ovarian failure	AR
ABCA1	600046	HDL deficiency, familial, 1	AD
ABCA1	600046	Tangier disease	AR
ABCB4	171060	Gallbladder disease 1	AD, AR
		Cholestasis, progressive familial intrahepatic 3	AR
		Cholestasis, intrahepatic, of pregnancy, 3	AD, AR
ABCC2	601107	Dubin-Johnson syndrome	AR
ABCC8	600509	Diabetes mellitus, transient neonatal 2	-
		Diabetes mellitus, noninsulin-dependent	AD
		Hyperinsulinemic hypoglycemia, familial, 1	AD, AR
		Hypoglycemia of infancy, leucine-sensitive	AD
		Diabetes mellitus, permanent neonatal 3, with or without neurologic features	AD, AR
ABCD1	300371	Adrenoleukodystrophy	XLR
ABCD1	300371	Adrenomyeloneuropathy, adult	XLR
ABCD4	603214	Methylmalonic aciduria and homocystinuria, cblJ type	AR
ABCG5	605459	Sitosterolemia 2	AR
ABCG8	605460	Gallbladder disease 4	-
ABCG8	605460	Sitosterolemia 1	AR
ACAD8	604773	Isobutyryl-CoA dehydrogenase deficiency	AR
ACAD9	611103	Mitochondrial complex I deficiency, nuclear type 20	AR
ACADM	607008	Acyl-CoA dehydrogenase, medium chain, deficiency of	AR
ACADS	606885	Acyl-CoA dehydrogenase, short-chain, deficiency of	AR
ACADSB	600301	2-methylbutyrylglycinuria	AR
ACADVL	609575	VLCAD deficiency	AR
ACAT1	607809	Alpha-methylacetoacetic aciduria	AR
ACOX1	609751	Peroxisomal acyl-CoA oxidase deficiency	AR
ACOX1	609751	Mitchell syndrome	AD
ACSF3	614245	Combined malonic and methylmalonic aciduria	-
ACY1	104620	Aminoacylase 1 deficiency	AR
ADA	608958	Adenosine deaminase deficiency, partial	AR, Somatic mosaicism
ADA	608958	Severe combined immunodeficiency due to ADA deficiency	AR, Somatic mosaicism
ADAMTS10	608990	Weill-Marchesani syndrome 1, recessive	AR
ADAMTSL2	612277	Geleophysic dysplasia 1	AR
ADAR	146920	Aicardi-Goutieres syndrome 6	AR
ADAR	146920	Dyschromatosis symmetrica hereditaria	AD
ADGRG1	604110	Polymicrogyria, bilateral perisylvian	-
ADGRG1	604110	Polymicrogyria, bilateral frontoparietal	AR
ADK	102750	Hypermethioninemia due to adenosine kinase deficiency	AR
ADSL	608222	Adenylosuccinase deficiency	AR
AFG3L2	604581	Spinocerebellar ataxia 28	AD
		Spastic ataxia 5, autosomal recessive	AR
		Optic atrophy 12	AD
AGA	613228	Aspartylglucosaminuria	AR
AGL	610860	Glycogen storage disease IIIb	AR
AGL	610860	Glycogen storage disease IIIa	AR
AGPAT2	603100	Lipodystrophy, congenital generalized, type 1	AR
AGPS	603051	Rhizomelic chondrodysplasia punctata, type 3	AR
AGXT	604285	Hyperoxaluria, primary, type 1	AR
AHCY	180960	Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase	AR
AIFM1	300169	Cowchock syndrome	XLR
		Combined oxidative phosphorylation deficiency 6	XLR
		Deafness, X-linked 5	XLR
		Spondyloepimetaphyseal dysplasia, X-linked, with hypomyelinating leukodystrophy	XLR
AIMP1	603605	Leukodystrophy, hypomyelinating, 3	AR
AIMP2	600859	Leukodystrophy, hypomyelinating, 17	AR
AKT2	164731	Diabetes mellitus, type II	AD
AKT2	164731	Hypoinsulinemic hypoglycemia with hemihypertrophy	AD
AKT3	611223	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2	AD
ALAD	125270	Porphyria, acute hepatic	AR
ALAD	125270	Lead poisoning, susceptibility to	AR
ALAS2	301300	Protoporphyria, erythropoietic, X-linked	XL
ALAS2	301300	Anemia, sideroblastic, 1	XLR
ALDH18A1	138250	Cutis laxa, autosomal dominant 3	AD
		Cutis laxa, autosomal recessive, type IIIA	AR
		Spastic paraplegia 9B, autosomal recessive	AR
		Spastic paraplegia 9A, autosomal dominant	AD
ALDH3A2	609523	Sjogren-Larsson syndrome	AR
ALDH4A1	606811	Hyperprolinemia, type II	AR
ALDH5A1	610045	Succinic semialdehyde dehydrogenase deficiency	AR
ALDH7A1	107323	Epilepsy, pyridoxine-dependent	AR
ALDOA	103850	Glycogen storage disease XII	AR
ALDOB	612724	Fructose intolerance, hereditary	AR
ALG1	605907	Congenital disorder of glycosylation, type Ik	AR
ALG11	613666	Congenital disorder of glycosylation, type Ip	AR
ALG12	607144	Congenital disorder of glycosylation, type Ig	AR
ALG13	300776	?Congenital disorder of glycosylation, type Is	XL
ALG13	300776	Developmental and epileptic encephalopathy 36	XL
ALG2	607905	?Congenital disorder of glycosylation, type Ii	AR
ALG2	607905	Myasthenic syndrome, congenital, 14, with tubular aggregates	AR
ALG3	608750	Congenital disorder of glycosylation, type Id	AR
ALG6	604566	Congenital disorder of glycosylation, type Ic	AR
ALG8	-	Polycystic liver disease 3 with or without kidney cysts	AD
ALG8	-	Congenital disorder of glycosylation, type Ih	AR
ALG9	606941	Congenital disorder of glycosylation, type Il	AR
ALG9	606941	Gillessen-Kaesbach-Nishimura syndrome	AR
ALPL	171760	Hypophosphatasia, infantile	AR
		Odontohypophosphatasia	AD, AR
		Hypophosphatasia, childhood	AR
		Hypophosphatasia, adult	AD, AR
ALS2	606352	Amyotrophic lateral sclerosis 2, juvenile	AR
		Spastic paralysis, infantile onset ascending	AR
		Primary lateral sclerosis, juvenile	AR
AMN	605799	Imerslund-Grasbeck syndrome 2	AR
AMPD2	102771	?Spastic paraplegia 63	AR
AMPD2	102771	Pontocerebellar hypoplasia, type 9	AR
AMT	238310	Glycine encephalopathy	AR
ANK1	612641	Spherocytosis, type 1	AD, AR
ANTXR2	-	Hyaline fibromatosis syndrome	AR
AP3B1	603401	Hermansky-Pudlak syndrome 2	AR
AP4B1	607245	Spastic paraplegia 47, autosomal recessive	AR
AP4E1	607244	Stuttering, familial persistent, 1	AD
AP4E1	607244	Spastic paraplegia 51, autosomal recessive	AR
AP4M1	602296	Spastic paraplegia 50, autosomal recessive	AR
AP4S1	607243	Spastic paraplegia 52, autosomal recessive	AR
AP5Z1	613653	Spastic paraplegia 48, autosomal recessive	AR
APOA2	107670	Hypercholesterolemia, familial, modifier of	AD, AR
APOA5	606368	Hyperchylomicronemia, late-onset	AD
APOA5	606368	Hypertriglyceridemia, susceptibility to	AD
APOB	107730	Hypobetalipoproteinemia	AR
APOB	107730	Hypercholesterolemia, familial, 2	AD
APOC2	-	Hyperlipoproteinemia, type Ib	AR
APOE	107741	Sea-blue histiocyte disease	AR
		Lipoprotein glomerulopathy	-
		?Alzheimer disease, protection against, due to APOE3-Christchurch	AD
		Hyperlipoproteinemia, type III	-
		Coronary artery disease, severe, susceptibility to	-
		?Macular degeneration, age-related	AD
		Alzheimer disease 2	AD
APP	104760	Alzheimer disease 1, familial	AD
APP	104760	Cerebral amyloid angiopathy, Dutch, Italian, Iowa, Flemish, Arctic variants	AD
APPL1	604299	Maturity-onset diabetes of the young, type 14	AD
APTX	606350	Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia	AR
AQP2	107777	Diabetes insipidus, nephrogenic	AD, AR
ARG1	608313	Argininemia	AR
ARL6IP1	607669	?Spastic paraplegia 61, autosomal recessive	AR
ARSA	607574	Metachromatic leukodystrophy	AR
ARSB	611542	Mucopolysaccharidosis type VI (Maroteaux-Lamy)	AR
ASAH1	613468	Spinal muscular atrophy with progressive myoclonic epilepsy	AR
ASAH1	613468	Farber lipogranulomatosis	AR
ASL	608310	Argininosuccinic aciduria	AR
ASPA	608034	Canavan disease	AR
ASS1	603470	Citrullinemia	AR
ATM	607585	Breast cancer, susceptibility to	AD, SM
ATM	607585	Ataxia-telangiectasia	AR
ATP13A2	610513	Spastic paraplegia 78, autosomal recessive	AR
ATP13A2	610513	Kufor-Rakeb syndrome	AR
ATP6V0A2	611716	Cutis laxa, autosomal recessive, type IIA	AR
ATP6V0A2	611716	Wrinkly skin syndrome	AR
ATP7A	300011	Menkes disease	XLR
		Occipital horn syndrome	XLR
		Spinal muscular atrophy, distal, X-linked 3	XLR
ATP7B	606882	Wilson disease	AR
ATPAF2	608918	?Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1	AR
ATRX	300032	Mental retardation-hypotonic facies syndrome, X-linked	XLR
		Alpha-thalassemia/mental retardation syndrome	XLD
		Alpha-thalassemia myelodysplasia syndrome, somatic	-
AUH	600529	3-methylglutaconic aciduria, type I	AR
AVP	192340	Diabetes insipidus, neurohypophyseal	AD
AVPR2	-	Nephrogenic syndrome of inappropriate antidiuresis	XLR
AVPR2	-	Diabetes insipidus, nephrogenic	XLR
B3GALNT2	610194	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11	AR
B4GALNT1	601873	Spastic paraplegia 26, autosomal recessive	AR
B4GALT1	137060	Congenital disorder of glycosylation, type IId	AR
BCAP31	300398	Deafness, dystonia, and cerebral hypomyelination	XLR
BCKDHA	608348	Maple syrup urine disease, type Ia	AR
BCKDHB	248611	Maple syrup urine disease, type Ib	AR
BCS1L	603647	GRACILE syndrome	AR
		Bjornstad syndrome	AR
		Mitochondrial complex III deficiency, nuclear type 1	AR
BEST1	607854	Macular dystrophy, vitelliform, 2	AD
		Retinitis pigmentosa-50	-
		?Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma 2	AD
		Vitreoretinochoroidopathy	AD
		Bestrophinopathy, autosomal recessive	-
		Retinitis pigmentosa, concentric	-
BICD2	609797	Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant	AD
BICD2	609797	Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant	AD
BLK	191305	Maturity-onset diabetes of the young, type 11	AD
BMP6	112266	Iron overload, susceptibility to	-
BOLA3	613183	Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia	AR
BRAT1	614506	Neurodevelopmental disorder with cerebellar atrophy and with or without seizures	AR
BRAT1	614506	Rigidity and multifocal seizure syndrome, lethal neonatal	AR
BSCL2	606158	Lipodystrophy, congenital generalized, type 2	AR
		Encephalopathy, progressive, with or without lipodystrophy	AR
		Silver spastic paraplegia syndrome	AD
		Neuropathy, distal hereditary motor, type VC	AD
BTD	609019	Biotinidase deficiency	AR
C19orf12	614297	Neurodegeneration with brain iron accumulation 4	AD, AR
C19orf12	614297	?Spastic paraplegia 43, autosomal recessive	AR
CA5A	114761	Hyperammonemia due to carbonic anhydrase VA deficiency	AR
CACNA1D	114206	Primary aldosteronism, seizures, and neurologic abnormalities	AD
CACNA1D	114206	Sinoatrial node dysfunction and deafness	AR
CAPN1	114220	Spastic paraplegia 76, autosomal recessive	AR
CASP10	601762	Autoimmune lymphoproliferative syndrome, type II	AD
		Gastric cancer, somatic	-
		Lymphoma, non-Hodgkin, somatic	-
CASP8	601763	Breast cancer, protection against	AD, SM
		Lung cancer, protection against	AD, SM
		?Autoimmune lymphoproliferative syndrome, type IIB	AR
		Hepatocellular carcinoma, somatic	-
CAV1	601047	Pulmonary hypertension, primary, 3	AD
		Lipodystrophy, familial partial, type 7	AD
		?Lipodystrophy, congenital generalized, type 3	AR
CAVIN1	603198	Lipodystrophy, congenital generalized, type 4	AR
CBLIF	609342	Intrinsic factor deficiency	AR
CBS	613381	Thrombosis, hyperhomocysteinemic	AR
CBS	613381	Homocystinuria, B6-responsive and nonresponsive types	AR
CCT5	610150	Neuropathy, hereditary sensory, with spastic paraplegia	AR
CD320	606475	Methylmalonic aciduria, transient, due to transcobalamin receptor defect	AR
CEL	114840	Maturity-onset diabetes of the young, type VIII	AD
CERS1	606919	?Epilepsy, progressive myoclonic, 8	AR
CETP	118470	Hyperalphalipoproteinemia	AD
CETP	118470	[High density lipoprotein cholesterol level QTL 10]	AD
CISD2	611507	Wolfram syndrome 2	AR
CLCN2	600570	Epilepsy, juvenile absence, susceptibility to, 2	AD
		Hyperaldosteronism, familial, type II	AD
		Epilepsy, juvenile myoclonic, susceptibility to, 8	AD
		Epilepsy, idiopathic generalized, susceptibility to, 11	AD
		Leukoencephalopathy with ataxia	AR
CLN3	607042	Ceroid lipofuscinosis, neuronal, 3	AR
CLN5	-	Ceroid lipofuscinosis, neuronal, 5	AR
CLN6	606725	Ceroid lipofuscinosis, neuronal, Kufs type, adult onset	AR
CLN6	606725	Ceroid lipofuscinosis, neuronal, 6	AR
CLN8	607837	Ceroid lipofuscinosis, neuronal, 8	AR
CLN8	607837	Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant	AR
CLPB	616254	3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropenia	AR
		3-methylglutaconic aciduria, type VIIA, autosomal dominant	AD
		Neutropenia, severe congenital, 9, autosomal dominant	AD
CLPP	601119	Perrault syndrome 3	AR
COA7	615623	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3	AR
COA8	616003	Mitochondrial complex IV deficiency, nuclear type 17	AR
COASY	609855	Neurodegeneration with brain iron accumulation 6	AR
COASY	609855	Pontocerebellar hypoplasia, type 12	AR
COG1	606973	Congenital disorder of glycosylation, type IIg	AR
COG4	606976	Congenital disorder of glycosylation, type IIj	AR
COG4	606976	Saul-Wilson syndrome	AD
COG5	606821	Congenital disorder of glycosylation, type IIi	AR
COG6	606977	Shaheen syndrome	AR
COG6	606977	Congenital disorder of glycosylation, type IIl	AR
COG7	606978	Congenital disorder of glycosylation, type IIe	AR
COG8	606979	Congenital disorder of glycosylation, type IIh	-
COL11A2	120290	Deafness, autosomal recessive 53	AR
		Otospondylomegaepiphyseal dysplasia, autosomal recessive	AR
		Fibrochondrogenesis 2	AD, AR
		Otospondylomegaepiphyseal dysplasia, autosomal dominant	AD
		Deafness, autosomal dominant 13	AD
COL2A1	120140	Legg-Calve-Perthes disease	AD
		Stickler syndrome, type I	AD
		Osteoarthritis with mild chondrodysplasia	AD
		Platyspondylic skeletal dysplasia, Torrance type	AD
		Spondyloepiphyseal dysplasia, Stanescu type	AD
		Kniest dysplasia	AD
		Czech dysplasia	AD
		Stickler sydrome, type I, nonsyndromic ocular	AD
		?Vitreoretinopathy with phalangeal epiphyseal dysplasia	AD
		?Epiphyseal dysplasia, multiple, with myopia and deafness	AD
		Avascular necrosis of the femoral head	AD
		Spondyloperipheral dysplasia	AD
		Achondrogenesis, type II or hypochondrogenesis	AD
		SMED Strudwick type	AD
		SED congenita	AD
COL4A1	120130	?Retinal arteries, tortuosity of	AD
		Hemorrhage, intracerebral, susceptibility to	-
		Microangiopathy and leukoencephalopathy, pontine, autosomal dominant	AD
		Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps	AD
		Brain small vessel disease with or without ocular anomalies	AD
COL4A2	120090	Hemorrhage, intracerebral, susceptibility to	-
COL4A2	120090	Brain small vessel disease 2	AD
COLGALT1	617531	Brain small vessel disease 3	AR
COQ2	609825	Coenzyme Q10 deficiency, primary, 1	AR
COQ2	609825	Multiple system atrophy, susceptibility to	AD, AR