GeneAssociated phenotypesInheritanceClinVarHGMD
ADARDyschromatosis symmetrica hereditaria, Aicardi-Goutières syndromeAD/AR25226
IFIH1Singleton-Merten syndrome, Aicardi-Goutieres syndrome 7AD/AR1419
RNASEH2AAicardi-Goutières syndromeAR1321
RNASEH2BAicardi-Goutières syndromeAR1641
RNASEH2CAicardi-Goutières syndromeAR614
SAMHD1Aicardi-Goutières syndrome, Chilblain lupus 2AD/AR2556
TREX1Vasculopathy, retinal, with cerebral leukodystrophy, Chilblain lupus, Aicardi-Goutières syndromeAD/AR3071
GeneAssociated phenotypesInheritanceClinVarHGMD
ABCC8Hyperinsulinemic hypoglycemia, Diabetes, permanent neonatal, Hypoglycemia, leucine-induced, Diabetes mellitus, transient neonatal, Pulmonary arterial hypertension (PAH)AD/AR170641
ABCD1*AdrenoleukodystrophyXL95663
ABCD3Zellweger syndromeAR13
ABCD4Methylmalonic aciduria and homocystinuriaAR67
ACAD8Isobutyryl-CoA dehydrogenase deficiencyAR1221
ACAD9Acyl-CoA dehydrogenase family, deficiencyAR2661
ACADLLong chain acyl-CoA dehydrogenase deficiencyAD/AR1
ACADMAcyl-CoA dehydrogenase, medium chain, deficiencyAR104169
ACADSAcyl-CoA dehydrogenase, short-chain, deficiencyAR4381
ACADSB2-methylbutyryl-CoA dehydrogenase deficiencyAR812
ACADVLAcyl-CoA dehydrogenase, very long chain, deficiencyAR119282
ACAT1Alpha-methylacetoacetic aciduriaAR3195
ACOX1Peroxisomal acyl-CoA oxidase deficiencyAR1526
ACSF3Combined malonic and methylmalonic aciduriaAR1822
ACY1Aminoacylase 1 deficiencyAR514
ADASevere combined immunodeficiency due to adenosine deaminase deficiencyAR4993
ADAMTSL2#*Geleophysic dysplasia 3AR828
ADARDyschromatosis symmetrica hereditaria, Aicardi-Goutières syndromeAD/AR25226
ADCK3Coenzyme Q10 deficiency, Progressive cerebellar ataxia and atrophy, Spinocerebellar ataxiaAR4543
ADKHypermethioninemia due to adenosine kinase deficiencyAR614
ADSLAdenylosuccinase deficiencyAR2457
AGAAspartylglucosaminuriaAR4837
AGK*Sengers syndrome, Cataract 38AR1827
AGLGlycogen storage diseaseAR142245
AGPAT2Lipodystrophy, congenital generalizedAR2539
AGPSRhizomelic chondrodysplasia punctata type 3AR48
AGXTHyperoxaluriaAR190205
AHCYHypermethioninemia with S-adenosylhomocysteine hydrolase deficiencyAR39
AKT2Hypoinsulinemic hypoglycemia with hemihypertrophyAD46
ALADPorphyria, acute hepaticAR611
ALAS2Anemia, sideroblastic, Protoporphyria, erythropoieticXL27103
ALDH5A1Succinic semialdehyde dehydrogenase deficiencyAR1670
ALDH7A1Epilepsy, pyridoxine-dependentAR52123
ALDOAGlycogen storage diseaseAR38
ALDOBFructose intolerance, hereditaryAR4167
ALG1*Congenital disorder of glycosylationAR2543
ALG11Congenital disorder of glycosylationAR1114
ALG12Congenital disorder of glycosylationAR1115
ALG13Congenital disorder of glycosylationXL512
ALG2Congenital disorder of glycosylation, Myasthenic syndrome, congenitalAR55
ALG3Congenital disorder of glycosylationAR918
ALG6Congenital disorder of glycosylationAR2824
ALG8#Congenital disorder of glycosylationAD/AR1017
ALG9Congenital disorder of glycosylation, Gillessen-Kaesbach-Nishimura syndromeAR44
AMACRAlpha-methylacyl-CoA racemase deficiency, Bile acid synthesis defectAR38
AMNMegaloblastic anemia-1, NorwegianAR2934
AMPD1Myoadenylate deaminase deficiencyAR510
AMTGlycine encephalopathyAR4295
ANO10Spinocerebellar ataxiaAR1918
ANO5Gnathodiaphyseal dysplasia, LGMD2L and distal MMD3 muscular dystrophiesAD/AR64121
ANTXR2Hyalinosis, infantile systemic, Fibromatosis, juveline hyalineAR1747
APRTAdenine phosphoribosyltransferase deficiencyAR1147
APTXAtaxia, early-onset, with oculomotor apraxia and hypoalbuminemiaAR1446
ARG1HyperargininemiaAR2854
ARSAMetachromatic leukodystrophyAR113246
ARSBMucopolysaccharidosis (Maroteaux-Lamy)AR118201
ASAH1Spinal muscular atrophy with progressive myoclonic epilepsy, Farber lipogranulomatosisAR1671
ASLArgininosuccinic aciduriaAR56162
ASPAAspartoacylase deficiency (Canavan disease)AR54102
ASS1CitrullinemiaAR70153
ATICAICAR transformylase/IMP cyclohydrolase deficiencyAR26
ATP13A2Parkinson disease (Kufor-Rakeb syndrome)AR2140
ATP6V0A2Cutis laxa, Wrinkly skin syndromeAR1656
ATP7BWilson diseaseAR219897
AUH3-methylglutaconic aciduriaAR1211
B3GLCTPeters-plus syndromeAR915
B4GALT1Congenital disorder of glycosylationAR12
BCKDHAMaple syrup urine diseaseAR5798
BCKDHBMaple syrup urine diseaseAR87103
BCS1LBjornstad syndrome, GRACILE syndrome, Leigh syndrome, Mitochondrial complex III deficiency, nuclear type 1AR4237
BOLA3Multiple mitochondrial dysfunctions syndrome 2AR36
BSCL2Lipodystrophy, congenital generalized, Encephalopathy, progressive, Neuropathy, distal hereditary motor, type VA, Charcot-Marie-Tooth disease type 2, Silver syndrome, Silver spastic paraplegia syndrome, Spastic paraplegia 17AR3450
BSNDSensorineural deafness with mild renal dysfunction, Bartter syndromeAR1020
BTDBiotinidase deficiencyAR170247
C10ORF2Perrault syndrome, Mitochondrial DNA depletion syndrome, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 3AR3780
C12ORF65Spastic paraplegia, Combined oxidative phosphorylation deficiencyAR1011
CA5A*Carbonic anhydrase VA deficiencyAR67
CACNA1SHypokalemic periodic paralysis, Malignant hyperthermia, Thyrotoxic periodic paralysisAD1447
CASRHypocalcemia, Neonatal hyperparathyroidism, Familial Hypocalciuric hypercalcemia with transient Neonatal hyperparathyroidismAD/AR104396
CAV1Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome, Lipodystrophy, congenital generalized, Pulmonary hypertension, primary 3AD/AR711
CAV3Creatine phosphokinase, elevated serum, Hypertrophic cardiomyopathy (HCM), Long QT syndrome, Muscular dystrophy, limb-girdle, type IC, Myopathy, distal, Tateyama type, Rippling muscle disease 2AD/AR2350
CBSHomocystinuria due to cystathionine beta-synthase deficiencyAR88205
CD320Methylmalonic aciduria due to transcobalamin receptor defectAR2
CIDEC*Lipodystrophy, familial partial, type 5AR21
CLCN1Myotonia congenita, Myotonia congenita, Myotonia leviorAD/AR86313
CLCNKB*Bartter syndromeAR/Digenic19119
CLDN16Hypomagnesemia, renalAR2162
CLDN19Hypomagnesemia, renalAR720
CLN3Neuronal ceroid lipofuscinosis, type 3AR10072
CLN5Neuronal ceroid lipofuscinosis, type 5AR6247
CLN6Neuronal ceroid lipofuscinosis, type 6AR4183
CLN8Neuronal ceroid lipofuscinosis, type 8AR4544
CLPB3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia (MEGCANN)AR2625
CNNM2Hypomagnesemia, renal, Hypomagnesemia, seizures, and mental retardationAR56
CNNM4Jalili syndromeAR1124
COG1Congenital disorder of glycosylationAR43
COG4Congenital disorder of glycosylationAR124
COG5Congenital disorder of glycosylationAR413
COG6Congenital disorder of glycosylation, Shaheen syndromeAR109
COG7Congenital disorder of glycosylationAR75
COG8Congenital disorder of glycosylationAR57
COL11A2Weissenbacher-Zweymuller syndrome, Deafness, Otospondylomegaepiphyseal dysplasia, Fibrochondrogenesis, Stickler syndrome type 3 (non-ocular)AD/AR2957
COL2A1Avascular necrosis of femoral head, Rhegmatogenous retinal detachment, Epiphyseal dysplasia, with myopia and deafness, Czech dysplasia, Achondrogenesis type 2, Platyspondylic dysplasia Torrance type, Hypochondrogenesis, Spondyloepiphyseal dysplasia congenital (SEDC), Spondyloepimetaphyseal dysplasia (SEMD) Strudwick type, Kniest dysplasia, Spondyloperipheral dysplasia, Mild SED with premature onset arthrosis, SED with metatarsal shortening, Stickler syndrome type 1AD180561
COQ2Coenzyme Q10 deficiencyAR1631
COQ4Coenzyme Q10 deficiency 7AR1413
COQ5Coenzyme Q10 deficiencyAR12
COQ6Coenzyme Q10 deficiencyAR1415
COQ7Coenzyme Q10 deficiency, primary 8AR12
COQ9Coenzyme Q10 deficiencyAR25
CPOXCoproporphyria, HarderoporphyriaAD/AR1570
CPS1Carbamoylphosphate synthetase I deficiencyAR61269
CPT1ACarnitine palmitoyltransferase deficiencyAR6051
CPT2Carnitine palmitoyltransferase II deficiencyAR72111
CTHCystathioninuriaAR59
CTNSCystinosisAR76148
CTSAGalactosialidosisAR1738
CTSCPeriodontitis, juvenile, Haim-Munk syndrome, Papillon-Lefevre syndromeAR1992
CTSDCeroid lipofuscinosis, neuronalAR1218
CTSKPycnodysostosisAR3558
CUBN*Megaloblastic anemia-1, FinnishAR4253
D2HGDHD-2-hydroxyglutaric aciduria 1AR1333
DBTMaple syrup urine diseaseAR3975
DDOSTCongenital disorder of glycosylationAR32
DGUOKMitochondrial DNA depletion syndrome, Portal hypertension, noncirrhotic, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4AR2362
DHCR7Smith-Lemli-Opitz syndromeAR88217
DHDDSRetinitis pigmentosaAR58
DHODHPostaxial acrofacial dysostosis (Miller syndrome)AR820
DLDDihydrolipoyl dehydrogenase deficiencyAR3621
DNAJC12Hyperphenylalaninemia, mild, non-BH4-deficient, Dystonia, Other hyperphenylalaninemiasAR38
DNM1LEncephalopathy due to defective mitochondrial and peroxisomal fission 1AD1720
DOLKCongenital disorder of glycosylationAR811
DPAGT1Congenital disorder of glycosylation, Myasthenic syndrome, congenitalAR1632
DPM1Congenital disorder of glycosylationAR98
DPM2Congenital disorder of glycosylationAR22
DPM3Congenital disorder of glycosylation, Dilated cardiomyopathy (DCM), Limb-girdle muscular dystrophyAR32
DPYD5-fluorouracil toxicity, Developmental delay with or without dysmorphic facies and autismAD/AR6286
DPYSDihydropyriminidase deficiencyAR829
DYMDyggve-Melchior-Clausen dysplasia, Smith-McCort dysplasiaAR2234
DYSFMiyoshi muscular dystrophy, Muscular dystrophy, limb-girdle, Myopathy, distal, with anterior tibial onsetAR244529
EBPChondrodysplasia punctata, Male EBP disorder with neurologic defects (MEND)XL4390
ECHS1Mitochondrial short-chain enoyl-CoA hydratase 1 deficiencyAR2333
EGFHypomagnesemia, renalAR14
ENO3Glycogen storage diseaseAR36
EPM2AEpilepsy, progressive myoclonicAR1777
ETFAGlutaric aciduria, Multiple acyl-CoA dehydrogenase deficiencyAR829
ETFBGlutaric aciduria, Multiple acyl-CoA dehydrogenase deficiencyAR615
ETFDHGlutaric aciduria, Multiple acyl-CoA dehydrogenase deficiencyAR43190
FAHTyrosinemiaAR53102
FAM111AKenny-Caffey syndrome, type 2AD59
FBP1Fructose-1,6-bisphosphatase deficiencyAR2544
FBXL4Mitochondrial DNA depletion syndromeAR5547
FECHProtoporphyria, erythropoieticAD/AR14193
FHHereditary leiomyomatosis and renal cell cancerAD/AR178207
FKRPMuscular dystrophy-dystroglycanopathyAR66140
FKTNMuscular dystrophy-dystroglycanopathy, Dilated cardiomyopathy (DCM), Muscular dystrophy-dystroglycanopathy (limb-girdle)AD/AR4558
FLAD1Lipid storage myopathy due to FLAD1 deficiency (LSMFLAD)AR910
FLNAFrontometaphyseal dysplasia, Osteodysplasty Melnick-Needles, Otopalatodigital syndrome type 1, Otopalatodigital syndrome type 2, Terminal osseous dysplasia with pigmentary defectsXL133257
FLNBLarsen syndrome (dominant), Atelosteogenesis type 1, Atelosteogenesis type 3, Spondylo-carpal-tarsal dyspasiaAD/AR43121
FMO3TrimethylaminuriaAR2152
FOLR1Cerebral folate deficiencyAR1028
FOXRED1Leigh syndrome, Mitochondrial complex I deficiencyAR158
FUCA1FucosidosisAR1933
FUT8Congenital disorder of glycosylationAR44
FXYD2Hypomagnesemia, renalAD11
G6PCGlycogen storage diseaseAR46117
GAAGlycogen storage diseaseAR193573
GALCKrabbe diseaseAR107243
GALEGalactose epimerase deficiencyAR1226
GALK1Galactokinase deficiencyAR1544
GALNSMucopolysaccharidosis (Morquio syndrome)AR53334
GALTGalactosemiaAR238330
GAMTGuanidinoacetate methyltransferase deficiencyAR1858
GATMArginine:glycine amidinotransferase deficiencyAR721
GBA*Gaucher diseaseAR84488
GBE1Glycogen storage diseaseAR3670
GCDHGlutaric aciduriaAR90241
GCH1Dopa-Responsive Dystonia Hyperphenylalaninemia, BH4-deficient, GTP Cyclohydrolase 1-Deficient Dopa-Responsive DystoniaAD/AR48240
GCKHyperinsulinemic hypoglycemia, familial, Diabetes mellitus, permanent neonatal, Maturity-onset diabetes of the young, type 2AD/AR178837
GCSHGlycine encephalopathyAR42
GFM1Combined oxidative phosphorylation deficiencyAR1919
GIFIntrinsic factor deficiencyAR722
GLAFabry diseaseXL226937
GLB1GM1-gangliosidosis, Mucopolysaccharidosis (Morquio syndrome)AR90220
GLDCGlycine encephalopathyAR139425
GLRX5Spasticity, childhood-onset, with hyperglycinemiaAR56
GLUD1*Hyperammonemia-hyperinsulinism, Hyperinsulinemic hypoglycemiaAD/AR1438
GLULGlutamine deficiency, congenitalAR43
GM2AGM2-gangliosidosis, AB variantAR1012
GMPPAAlacrima, achalasia, and mental retardation syndromeAR612
GNEInclusion body myopathy, Nonaka myopathy, SialuriaAD/AR78214
GNMTGlycine N-methyltransferase deficiencyAR35
GNPATRhizomelic chondrodysplasia punctata, rhizomelicAR814
GNPTABMucolipidosisAR166184
GNPTGMucolipidosisAR4546
GNSMucopolysaccharidosis (Sanfilippo syndrome)AR725
GPC3Simpson-Golabi-Behmel syndromeXL3375
GPHNHyperekplexia, Molybdenum cofactor deficiencyAD/AR3520
GUSB*MucopolysaccharidosisAR2762
GYG1Glycogen storage disease, Polyglucosan body myopathy 2AR916
GYS1Glycogen storage diseaseAR85
GYS2Glycogen storage diseaseAR2023
HADH3-hydroxyacyl-CoA dehydrogenase deficiencyAR1026
HADHATrifunctional protein deficiency, Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiencyAR6571
HADHBTrifunctional protein deficiencyAR2065
HAMPHemochromatosisAR515
HCFC1Combined methylmalonic acidemia and hyperhomocysteinemiaXL917
HEXATay-Sachs disease, GM2-gangliosidosis, Hexosaminidase A deficiencyAR128194
HEXBSandhoff diseaseAR55120
HFEHemochromatosisAR/Digenic1156
HFE2HemochromatosisAR1951
HGDAlkaptonuriaAR43136
HGSNATMucopolysaccharidosis (Sanfilippo syndrome), Retinitis pigmentosaAR4372
HIBCH3-hydroxyisobutryl-CoA hydrolase deficiencyAR1816
HLCSHolocarboxylase synthetase deficiencyAR3447
HMBSPorphyria, acute intermittent, Hydroxymethylbilane synthase deficiencyAD/AR55419
HMGCL3-hydroxy-3-methylglutaryl-CoA lyase deficiencyAR2460
HMGCS23-hydroxy-3-methylglutaryl-CoA synthase 2 deficiencyAR930
HNF1AMaturity onset diabetes of the young, Renal cell carcinoma, nonpapillary clear cell, Liver adenomatosisAD78528
HNF1BRenal cell carcinoma, nonpapillary chromophobe, Renal cysts and diabetes syndromeAD35234
HNF4ACongenital hyperinsulinism, diazoxide-responsive, Maturity onset diabetes of the young, Fanconi renotubular syndrome 4 with maturity-onset diabetes of the youngAD32147
HPDHawksinuria, TyrosinemiaAD/AR69
HPRT1Lesch-Nyhan syndrome, Kelley-Seegmiller syndromeXL72427
HRASCostello syndrome, Congenital myopathy with excess of muscle spindlesAD4331
HSD17B1017-beta-hydroxysteroid dehydrogenase X deficiency, Mental retardation, syndromicXL1015
HSD17B4Perrault syndrome, D-bifunctional protein deficiencyAR6099
HYAL1MucopolysaccharidosisAR23
IDH2D-2-hydroxyglutaric aciduria 2AD104
IDS*MucopolysaccharidosisXL85637
IDUAMucopolysaccharidosisAR105282
IFIH1Singleton-Merten syndrome, Aicardi-Goutieres syndrome 7AD/AR1419
INSRHyperinsulinemic hypoglycemia, familial, Rabson-Mendenhall syndrome, Donohoe syndromeAD/AR44190
ISCUMyopathy with lactic acidosisAR33
IVDIsovaleric acidemiaAR5190
KCNA1Episodic ataxia/myokymia syndromeAD2445
KCNJ10Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance (SESAME syndrome), Pendred syndrome, Enlarged vestibular aqueductAR/Digenic1329
KCNJ11Hyperinsulinemic hypoglycemia, Diabetes, permanent neonatal, Diabetes mellitus, transient neonatal, Maturity-onset diabetes of the young 13, Paternally-inherited mutations can cause Focal adenomatous hyperplasiaAD/AR63178
KCNJ2Short QT syndrome, Andersen syndrome, Long QT syndrome, Atrial fibrillationAD4193
L2HGDHL-2-hydroxyglutaric aciduriaAR1579
LAMA2Muscular dystrophy, congenital merosin-deficientAR199301
LAMP2Danon diseaseXL62101
LCTLactase deficiencyAR1115
LDB3Dilated cardiomyopathy (DCM), Myopathy, myofibrillarAD914
LDHAGlycogen storage diseaseAR19
LIASPyruvate dehydrogensae lipoic acid synthetase deficiencyAR118
LIPAWolman disease, Cholesterol ester storage diseaseAR2793
LIPEAbdominal obesity-metabolic syndrome 4AR34
LIPT1Lipoyltransferase 1 deficiencyAR99
LMBRD1Methylmalonic aciduria and homocystinuriaAR49
LMNAHeart-hand syndrome, Slovenian, Limb-girdle muscular dystrophy, Muscular dystrophy, congenital, LMNA-related, Lipodystrophy (Dunnigan), Emery-Dreiffus muscular dystrophy, Malouf syndrome, Dilated cardiomyopathy (DCM), Mandibuloacral dysplasia type A, Progeria Hutchinson-Gilford typeAD/AR250564
LPIN1Myoglobinuria, acute, recurrentAR629
MAGT1Immunodeficiency, with magnesium defect, Epstein-Barr virus infection and neoplasia, Mental retardation, X-linked 95XL814
MAN1B1Mental retardationAR826
MAN2B1Mannosidosis, alpha B, lysosomalAR63149
MANBAMannosidosis, lysosomalAR1619
MCCC13-Methylcrotonyl-CoA carboxylase 1 deficiencyAR40105
MCCC23-Methylcrotonyl-CoA carboxylase 2 deficiencyAR24114
MCEEMethylmalonyl-CoA epimerase deficiencyAR14
MCOLN1MucolipidosisAR5236
MFN2Hereditary motor and sensory neuropathy, Charcot-Marie-Tooth diseaseAD/AR70223
MFSD8Ceroid lipofuscinosis, neuronalAR2747
MGAT2Congenital disorder of glycosylationAR65
MLYCDMalonyl-CoA decarboxylase deficiencyAR1438
MMAAMethylmalonic acidemiaAR6175
MMABMethylmalonic acidemiaAR3140
MMACHCMethylmalonic aciduria and homocystinuriaAR5993
MMADHCMethylmalonic aciduria and homocystinuriaAR1613
MOCOSXanthinuria, type IIAR35
MOCS1*Molybdenum cofactor deficiencyAR735
MOCS2Molybdenum cofactor deficiencyAR1016
MOGSCongenital disorder of glycosylationAR78
MPDU1Congenital disorder of glycosylationAR77
MPICongenital disorder of glycosylationAR2720
MPV17Mitochondrial DNA depletion syndromeAR3550
MT-ATP6Neuropathy, ataxia, and retinitis pigmentosa, Leber hereditary optic neuropathy, Ataxia and polyneuropathy, adult-onset, Cardiomyopathy, infantile hypertrophic, Leigh syndrome, Striatonigral degeneration, infantile, mitochondrialMitochondrial19
MT-ATP8Cardiomyopathy, apical hypertrophic, and neuropathy, Cardiomyopathy, infantile hypertrophicMitochondrial4
MT-CO1Myoglobinuria, recurrent, Leber hereditary optic neuropathy, Sideroblastic anemia, Cytochrome C oxidase deficiencyMitochondrial17
MT-CO2Cytochrome c oxidase deficiencyMitochondrial8
MT-CO3Cytochrome c oxidase deficiency, Leber hereditary optic neuropathyMitochondrial9
MT-CYBLeber hereditary optic neuropathyMitochondrial69
MT-ND1Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes, Leber hereditary optic neuropathy, Leber optic atrophy and dystoniaMitochondrial21
MT-ND2Leber hereditary optic neuropathy, Mitochondrial complex I deficiencyMitochondrial6
MT-ND3Leber optic atrophy and dystonia, Mitochondrial complex I deficiencyMitochondrial7
MT-ND4Leber hereditary optic neuropathy, Leber optic atrophy and dystonia, Mitochondrial complex I deficiencyMitochondrial11
MT-ND4LLeber hereditary optic neuropathyMitochondrial2
MT-ND5Myoclonic epilepsy with ragged red fibers, Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes, Leber hereditary optic neuropathy, Mitochondrial complex I deficiencyMitochondrial19
MT-ND6Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes, Oncocytoma, Leber hereditary optic neuropathy, Leber optic atrophy and dystonia, Mitochondrial complex I deficiencyMitochondrial16
MT-RNR1Deafness, mitochondrialMitochondrial3
MT-RNR2Chloramphenicol toxicity/resistanceMitochondrial2
MT-TALeber hereditary optic neuropathy, Mitochondrial multisystemic disorder, Progressive external ophthalmoplegia, Dilated cardiomyopathy (DCM)Mitochondrial4
MT-TCMitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodesMitochondrial3
MT-TDMitochondrial multisystemic disorderMitochondrial1
MT-TEDiabetes-deafness syndrome, Mitochondrial myopathy, infantile, transient, Mitochondrial myopathy with diabetesMitochondrial5
MT-TFMyoclonic epilepsy with ragged red fibers, Nephropathy, tubulointerstitial, Encephalopathy, mitochondrial, Epilepsy, mitochondrial, Myopathy, mitochondrial, Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodesMitochondrial7
MT-TGHypertrophic cardiomyopathy, Encephalopathy, MyopathyMitochondrial3
MT-THMitochondrial encephalomyopathy with lactic acidosis and stroke-like episodesMitochondrial4
MT-TIProgressive external ophthalmoplegiaMitochondrial7
MT-TKMyoclonic epilepsy with ragged red fibersMitochondrial5
MT-TL1Cytochrome c oxidase deficiency, Myoclonic epilepsy with ragged red fibers, Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes, Diabetes-deafness syndrome, Cyclic vomiting syndrome, SIDS, susceptibility toMitochondrial14
MT-TL2Progressive external ophthalmoplegia, Mitochondrial multisystemic disorderMitochondrial5
MT-TMMitochondrial Myopathy, Leigh syndrome, Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodesMitochondrial1
MT-TNProgressive external ophthalmoplegiaMitochondrial3
MT-TPMitochondrial multisystemic disorderMitochondrial2
MT-TQMitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes, EncephalopathyMitochondrial2
MT-TRDilated cardiomyopathy (DCM)Mitochondrial2
MT-TS1Myoclonic epilepsy with ragged red fibers, Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodesMitochondrial10
MT-TS2Mitochondrial multisystemic disorderMitochondrial2
MT-TTMitochondrial5
MT-TVMitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodesMitochondrial3
MT-TWLeigh syndrome, Mitochondrial MyopathyMitochondrial8
MT-TYMitochondrial4
MTHFRHomocystinuria due to MTHFR deficiencyAR65122
MTRMethylmalonic acidemiaAR1343
MTRRHomocystinuria-megaloblastic anemia, cobalamin EAR1031
MUTMethylmalonic acidemia due to methylmalonyl-CoA mutase deficiencyAR159366
MYH3ArthrogryposisAD2145
MYOTMyopathy, myofibrillar, Muscular dystrophy, limb-girdle, 1A, Myopathy, spheroid bodyAD616
NAGAKanzaki disease, Alpha-n-acetylgalactosaminidase deficiency, Schindler disease type I, Schindler disease type IIIAR710
NAGLUMucopolysaccharidosis (Sanfilippo syndrome), Charcot-Marie-Tooth disease, axonal, type 2VAR74171
NAGSN-acetylglutamate synthase deficiencyAR1248
NBASInfantile liver failure syndrome 2, Short stature, optic nerve atrophy, and Pelger-Huet anomaly (SOPH syndrome)AR2343
NDUFAF2Mitochondrial complex I deficiency, Leigh syndromeAR98
NDUFS1Mitochondrial complex I deficiencyAR2228
NEU1SialidosisAR2262
NFU1Multiple mitochondrial dysfunctions syndrome 1AR615
NGLY1Congenital disorder of deglycosylationAR2622
NHLRC1Epilepsy, progressive myoclonicAR1470
NIPA2HypomagnesemiaAD/AR14
NPC1Niemann-Pick diseaseAR164472
NPC2Niemann-pick diseaseAR2127
NT5C3AUridine 5-prime monophosphate hydrolase deficiency, hemolytic anemia due toAR1028
OATGyrate atrophy of choroid and retinaAR6771
OPA1Optic atrophy, Optic atrophy 1, Optic atrophy with or without deafness, Ophthalmoplegia, myopathy, ataxia, and neuropathy, Behr synrome, Mitochondrial DNA depletion syndrome 14AD/AR96390
OPA3Optic atrophy, 3-methylglutaconic aciduriaAD/AR1315
OTCOrnithine transcarbamylase deficiencyXL343513
OXCT1Succinyl CoA:3-oxoacid CoA transferase deficiencyAR733
PAHHyperphenylalaninemia, non-PKU mild, PhenylketonuriaAR294966
PCPyruvate carboxylase deficiencyAR3241
PCBD1Hyperphenylalaninemia, BH4-deficientAR611
PCCAPropionic acidemiaAR66125
PCCB#Propionic acidemiaAR68115
PCK1Phosphoenolpyruvate carboxykinase 1 deficiencyAD/AR23
PDHA1Leigh syndrome, Pyruvate dehydrogenase E1-alpha deficiencyXL66192
PDHBPyruvate dehydrogensae E1-beta deficiencyAR413
PDHXPyruvate dehydrogenase E3-binding protein deficiencyAR1422
PDSS1#Coenzyme Q10 deficiencyAR53
PDSS2Coenzyme Q10 deficiencyAR84
PDX1Pancreatic agenesis, Neonatal diabetes mellitus, Maturity-onset diabetes of the young, type 4, Lactic acidemia due to PDX1 deficiencyAD/AR1028
PEPDProlidase deficiencyAR1231
PEX1Heimler syndrome, Peroxisome biogenesis factor disorder 1A, Peroxisome biogenesis factor disorder 1BAR112134
PEX10Adrenoleukodystrophy, neonatal, Zellweger syndrome, Peroxisome biogenesis disorder, AtaxiaAR3429
PEX11BZellweger syndrome, Peroxisome biogenesis disorderAR57
PEX12Zellweger syndrome, Peroxisome biogenesis disorderAR4337
PEX13Adrenoleukodystrophy, neonatal, Zellweger syndrome, Peroxisome biogenesis disorderAR910
PEX14Peroxisome biogenesis factor disorder 14, Zellweger syndromeAR54
PEX16Zellweger syndrome, Peroxisome biogenesis disorderAR813
PEX19Peroxisome biogenesis disorder, 19, Zellweger syndromeAR34
PEX2Zellweger syndrome, Peroxisome biogenesis disorderAR1618
PEX26Adrenoleukodystrophy, neonatal, Zellweger syndrome, Peroxisome biogenesis disorderAR1327
PEX3Zellweger syndrome, Peroxisome biogenesis disorderAR410
PEX5Adrenoleukodystrophy, neonatal, Rhizomelic chondrodysplasia punctata, Zellweger syndrome, Peroxisome biogenesis disorderAR814
PEX6Heimler syndrome, Peroxisome biogenesis disorder 4A, Peroxisome biogenesis disorder 4BAR58107
PEX7Refsum disease, Rhizomelic CDP type 1AR4453
PFKMGlycogen storage diseaseAR1226
PGAM2Glycogen storage diseaseAR411
PGK1Phosphoglycerate kinase 1 deficiencyXL1626
PGM1Congenital disorder of glycosylationAR1135
PHKA1Glycogen storage diseaseXL98
PHKA2Glycogen storage diseaseXL36114
PHKBGlycogen storage diseaseAR926
PHKG2Glycogen storage diseaseAR1233
PHYHRefsum diseaseAR1236
PLIN1Lipodystrophy, familial partialAD36
PMM2Congenital disorder of glycosylationAR76128
PNPPurine nucleoside phosphorylase deficiencyAR1133
PNPLA2Neutral lipid storage disease with myopathyAR1335
POLGPOLG-related ataxia neuropathy spectrum disorders, Sensory ataxia, dysarthria, and ophthalmoparesis, Alpers syndrome, Progressive external ophthalmoplegia with mitochondrial DNA deletions, Mitochondrial DNA depletion syndromeAD/AR89290
POLG2Progressive external ophthalmoplegia with mitochondrial DNA deletionsAD514
PPARGInsulin resistance, Lipodystrophy, familial, partialAD/Digenic (Severe digenic insulin resistance can be due to digenic mutations in PPP1R3A and PPARG)1949
PPOXPorphyria variegataAD/AR16183
PPT1Ceroid lipofuscinosis, neuronalAR9477
PRKAG2Hypertrophic cardiomyopathy (HCM), Wolff-Parkinson-White syndrome, Glycogen storage disease of heart, lethal congenitalAD1957
PRKAG3Increased glyogen content in skeletal muscleAD11
PRODH*HyperprolinemiaAR5210
PRPS1*Phosphoribosylpyrophosphate synthetase I superactivity, Arts syndrome, Charcot-Marie-Tooth disease, X-linked recessive, 5, Deafness, X-linked 1XL2732
PSAPKrabbe disease, atypical, Metachromatic leukodystrophy due to saposin-b deficiency, Combined saposin deficiency, Gaucher disease, atypical, due to saposin C deficiencyAR1826
PTF1APancreatic and cerebellar agenesis, Pancreatic agenesis 2AR416
PTRFLipodystrophy, congenital generalizedAR915
PTSHyperphenylalaninemia, BH4-deficientAR34112
PYGLGlycogen storage diseaseAR2144
PYGMGlycogen storage diseaseAR77168
QDPRHyperphenylalaninemia, BH4-deficientAR1466
RAI1Smith-Magenis syndromeAD37112
RBCK1Polyglucosan body myopathyAR1114
RENHyperuricemic nephropathy, Hyperproreninemia, familial, Renal tubular dysgenesisAD/AR918
RFT1Congenital disorder of glycosylationAR1113
RNASEH2AAicardi-Goutières syndromeAR1321
RNASEH2BAicardi-Goutières syndromeAR1641
RNASEH2CAicardi-Goutières syndromeAR614
RRM2BProgressive external ophthalmoplegia with mitochondrial DNA deletions, Mitochondrial DNA depletion syndromeAD/AR4141
RYR1Central core disease, Malignant hyperthermia, Minicore myopathy with external ophthalmoplegia, Centronuclear myopathy, Minicore myopathy, Multicore myopathyAD/AR241666
SAMHD1Aicardi-Goutières syndrome, Chilblain lupus 2AD/AR2556
SARS2Hyperuricemia, pulmonary hypertension, renal failure, and alkalosisAR65
SCN4AHyperkalemic periodic paralysis, Myotonia, potassium-aggravated, Paramyotonia congenita, Myasthenic syndrome, congenital, Normokalemic potassium-sensitive periodic paralysisAD/AR57126
SEC23BAnemia, dyserythropoietic congenitalAR18121
SERAC13-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndromeAR2252
SERPINA1Alpha-1-antitrypsin deficiencyAR4980
SGSHMucopolysaccharidosis (Sanfilippo syndrome)AR55148
SISucrase-isomaltase deficiency, congenitalAR1223
SLC12A3Gitelman syndromeAR49489
SLC16A1Hyperinsulinemic hypoglycemia, familial, Erythrocyte lactate transporter defect, Monocarboxylate transporter 1 deficiency, Myoclonic-atonic epilepsyAD/AR1214
SLC17A5Sialuria, Finnish (Salla disease), Infantile sialic acid storage disorderAR5254
SLC22A5Carnitine deficiency, systemic primaryAR98151
SLC25A1Combined D-2- and L-2-hydroxyglutaric aciduriaAR824
SLC25A13Citrin deficiencyAR24113
SLC25A15*Hyperornithinemia-hyperammonemia-homocitrullinemia syndromeAR2436
SLC25A20Carnitine-acylcarnitine translocase deficiencyAR1542
SLC25A26Combined oxidative phosphorylation deficiency 28AR44
SLC25A3Micochondrial phosphate carrier deficiencyAR25
SLC25A4Progressive external ophthalmoplegia with mitochondrial DNA deletions, Mitochondrial DNA depletion syndromeAD/AR1214
SLC2A1Stomatin-deficient cryohydrocytosis with neurologic defects, Epilepsy, idiopathic generalized, GLUT1 deficiency syndromeAD/AR106275
SLC2A2Glycogen storage disease, Fanconi-Bickel syndrome, Neonatal diabetes mellitusAR2473
SLC30A10Hypermanganesemia with dystonia, polycythemia, and cirrhosisAR1522
SLC35A1Congenital disorder of glycosylationAR45
SLC35A2Congenital disorder of glycosylationXL1616
SLC35C1Congenital disorder of glycosylation, Leukocyte adhesion deficiencyAR67
SLC37A4Glycogen storage diseaseAR49113
SLC39A4Acrodermatitis enteropathicaAR1350
SLC3A1CystinuriaAR26241
SLC40A1HemochromatosisAD2262
SLC46A1Folate malabsorptionAR1723
SLC5A1Glucose/galactose malabsorptionAR358
SLC6A19Hartnup diseaseAR823
SLC6A8*Creatine deficiency syndromeXL38133
SLC6A9Glycine encephalopathy with normal serum glycineAR63
SLC7A7Lysinuric protein intoleranceAR5567
SLC7A9CystinuriaAD/AR24159
SMPD1Niemann-Pick diseaseAR110249
SPG7Spastic paraplegiaAR69111
SRD5A3*Kahrizi syndrome, Congenital disorder of glycosylation, Retinal dystrophyAR1316
SSR4Congenital disorder of glycosylationXL57
STT3ACongenital disorder of glycosylationAR12
STT3BCongenital disorder of glycosylationAR14
SUCLA2Mitochondrial DNA depletion syndromeAR929
SUCLG1Mitochondrial DNA depletion syndromeAR1228
SUGCTGlutaric aciduria IIIAR67
SUMF1Multiple sulfatase deficiencyAR2153
SUOXSulfocysteinuriaAR829
TALDO1Transaldolase deficiencyAR610
TANGO2Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration (MECRCN)AR139
TATTyrosinemia, type IIAR1936
TAZ3-Methylglutaconic aciduria, (Barth syndrome)XL45158
TBC1D4Diabetes mellitus, noninsulin-dependentAR12
TCF4Corneal dystrophy, Fuchs endothelial, Pitt-Hopkins syndromeAD105146
TCN2Transcobalamin II deficiencyAR935
TFR2HemochromatosisAR2350
TIMM8A*Mohr-Tranebjaerg syndrome, Jensen syndrome, Opticoacoustic nerve atrophy with dementiaXL1121
TK2#Mitochondrial DNA depletion syndromeAR3852
TMEM126AOptic atrophyAR31
TMEM165Congenital disorder of glycosylationAR46
TMEM70Mitochondrial complex V (ATP synthase) deficiencyAR1218
TPMT*Thiopurine S-methyltransferase deficiencyAR16
TPP1Spinocerebellar ataxia, Neuronal ceroid lipofuscinosis type 2AR75112
TREX1Vasculopathy, retinal, with cerebral leukodystrophy, Chilblain lupus, Aicardi-Goutières syndromeAD/AR3071
TRIM37Mulibrey nanismAR1923
TRPM6Hypomagnesemia, intestinalAR1561
TUSC3Mental retardationAR616
TYMPMitochondrial DNA depletion syndromeAR8494
UCP2HyperinsulinismAD/AR7
UMODFamilial juvenile hyperuricemic nephropathy, Glomerulocystic kidney disease with hyperuricemia and isosthenuria, Medullary cystic kidney disease 2AD33108
UMPSOrotic aciduriaAR312
UPB1Beta-ureidopropionase deficiencyAR517
URODPorphyria cutanea tarda, Porphyria, hepatoerythropoieticAD/AR15122
UROSPorphyria, congenital erythropoieticAR2249
WFS1Wolfram syndrome, Deafness, Wolfram-like syndrome, autosomal dominant, Deafness, autosomal dominant 6/14/38, Cataract 41AD/AR69362
XDHXanthinuria, type IAR1021
ZMPSTE24Restrictive dermopathy, lethal, Mandibuloacral dysplasia with B lipodystrophyAD/AR1333
GeneAssociated phenotypesInheritanceClinVarHGMD
AGPAT2Lipodystrophy, congenital generalizedAR2539
AKT2Hypoinsulinemic hypoglycemia with hemihypertrophyAD46
BSCL2Lipodystrophy, congenital generalized, Encephalopathy, progressive, Neuropathy, distal hereditary motor, type VA, Charcot-Marie-Tooth disease type 2, Silver syndrome, Silver spastic paraplegia syndrome, Spastic paraplegia 17AR3450
CAV1Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome, Lipodystrophy, congenital generalized, Pulmonary hypertension, primary 3AD/AR711
CIDEC*Lipodystrophy, familial partial, type 5AR21
LIPEAbdominal obesity-metabolic syndrome 4AR34
LMNAHeart-hand syndrome, Slovenian, Limb-girdle muscular dystrophy, Muscular dystrophy, congenital, LMNA-related, Lipodystrophy (Dunnigan), Emery-Dreiffus muscular dystrophy, Malouf syndrome, Dilated cardiomyopathy (DCM), Mandibuloacral dysplasia type A, Progeria Hutchinson-Gilford typeAD/AR250564
PLIN1Lipodystrophy, familial partialAD36
PPARGInsulin resistance, Lipodystrophy, familial, partialAD/Digenic (Severe digenic insulin resistance can be due to digenic mutations in PPP1R3A and PPARG)1949
PTRFLipodystrophy, congenital generalizedAR915
TBC1D4Diabetes mellitus, noninsulin-dependentAR12
ZMPSTE24Restrictive dermopathy, lethal, Mandibuloacral dysplasia with B lipodystrophyAD/AR1333
GeneAssociated phenotypesInheritanceClinVarHGMD
GAMTGuanidinoacetate methyltransferase deficiencyAR1858
GATMArginine:glycine amidinotransferase deficiencyAR721
SLC6A8*Creatine deficiency syndromeXL38133
GeneAssociated phenotypesInheritanceClinVarHGMD
SLC3A1CystinuriaAR26241
SLC7A9CystinuriaAD/AR24159
GeneAssociated phenotypesInheritanceClinVarHGMD
ACAD8Isobutyryl-CoA dehydrogenase deficiencyAR1221
ACAD9Acyl-CoA dehydrogenase family, deficiencyAR2661
ACADLLong chain acyl-CoA dehydrogenase deficiencyAD/AR1
ACADMAcyl-CoA dehydrogenase, medium chain, deficiencyAR104169
ACADSAcyl-CoA dehydrogenase, short-chain, deficiencyAR4381
ACADSB2-methylbutyryl-CoA dehydrogenase deficiencyAR812
ACADVLAcyl-CoA dehydrogenase, very long chain, deficiencyAR119282
ALDH5A1Succinic semialdehyde dehydrogenase deficiencyAR1670
CPT1ACarnitine palmitoyltransferase deficiencyAR6051
CPT2Carnitine palmitoyltransferase II deficiencyAR72111
ECHS1Mitochondrial short-chain enoyl-CoA hydratase 1 deficiencyAR2333
ETFAGlutaric aciduria, Multiple acyl-CoA dehydrogenase deficiencyAR829
ETFBGlutaric aciduria, Multiple acyl-CoA dehydrogenase deficiencyAR615
ETFDHGlutaric aciduria, Multiple acyl-CoA dehydrogenase deficiencyAR43190
GLUD1*Hyperammonemia-hyperinsulinism, Hyperinsulinemic hypoglycemiaAD/AR1438
HADH3-hydroxyacyl-CoA dehydrogenase deficiencyAR1026
HADHATrifunctional protein deficiency, Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiencyAR6571
HADHBTrifunctional protein deficiencyAR2065
HMGCL3-hydroxy-3-methylglutaryl-CoA lyase deficiencyAR2460
HMGCS23-hydroxy-3-methylglutaryl-CoA synthase 2 deficiencyAR930
HSD17B1017-beta-hydroxysteroid dehydrogenase X deficiency, Mental retardation, syndromicXL1015
LPIN1Myoglobinuria, acute, recurrentAR629
PPARGInsulin resistance, Lipodystrophy, familial, partialAD/Digenic (Severe digenic insulin resistance can be due to digenic mutations in PPP1R3A and PPARG)1949
SLC22A5Carnitine deficiency, systemic primaryAR98151
SLC25A20Carnitine-acylcarnitine translocase deficiencyAR1542
TAZ3-Methylglutaconic aciduria, (Barth syndrome)XL45158
GeneAssociated phenotypesInheritanceClinVarHGMD
HAMPHemochromatosisAR515
HFEHemochromatosisAR/Digenic1156
HFE2HemochromatosisAR1951
SLC40A1HemochromatosisAD2262
TFR2HemochromatosisAR2350
GeneAssociated phenotypesInheritanceClinVarHGMD
CBSHomocystinuria due to cystathionine beta-synthase deficiencyAR88205
MTHFRHomocystinuria due to MTHFR deficiencyAR65122
MTRMethylmalonic acidemiaAR1343
MTRRHomocystinuria-megaloblastic anemia, cobalamin EAR1031
GeneAssociated phenotypesInheritanceClinVarHGMD
ACADMAcyl-CoA dehydrogenase, medium chain, deficiencyAR104169
ACADSAcyl-CoA dehydrogenase, short-chain, deficiencyAR4381
ACADVLAcyl-CoA dehydrogenase, very long chain, deficiencyAR119282
ARG1HyperargininemiaAR2854
ASLArgininosuccinic aciduriaAR56162
ASS1CitrullinemiaAR70153
BCKDHAMaple syrup urine diseaseAR5798
BCKDHBMaple syrup urine diseaseAR87103
CA5A*Carbonic anhydrase VA deficiencyAR67
CPS1Carbamoylphosphate synthetase I deficiencyAR61269
CPT1ACarnitine palmitoyltransferase deficiencyAR6051
CPT2Carnitine palmitoyltransferase II deficiencyAR72111
DBTMaple syrup urine diseaseAR3975
DLDDihydrolipoyl dehydrogenase deficiencyAR3621
ETFAGlutaric aciduria, Multiple acyl-CoA dehydrogenase deficiencyAR829
ETFBGlutaric aciduria, Multiple acyl-CoA dehydrogenase deficiencyAR615
ETFDHGlutaric aciduria, Multiple acyl-CoA dehydrogenase deficiencyAR43190
GLUD1*Hyperammonemia-hyperinsulinism, Hyperinsulinemic hypoglycemiaAD/AR1438
GLULGlutamine deficiency, congenitalAR43
HADHATrifunctional protein deficiency, Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiencyAR6571
HADHBTrifunctional protein deficiencyAR2065
HCFC1Combined methylmalonic acidemia and hyperhomocysteinemiaXL917
HLCSHolocarboxylase synthetase deficiencyAR3447
HMGCL3-hydroxy-3-methylglutaryl-CoA lyase deficiencyAR2460
HMGCS23-hydroxy-3-methylglutaryl-CoA synthase 2 deficiencyAR930
IVDIsovaleric acidemiaAR5190
MCCC13-Methylcrotonyl-CoA carboxylase 1 deficiencyAR40105
MCCC23-Methylcrotonyl-CoA carboxylase 2 deficiencyAR24114
MMAAMethylmalonic acidemiaAR6175
MMABMethylmalonic acidemiaAR3140
MMACHCMethylmalonic aciduria and homocystinuriaAR5993
MMADHCMethylmalonic aciduria and homocystinuriaAR1613
MUTMethylmalonic acidemia due to methylmalonyl-CoA mutase deficiencyAR159366
NAGSN-acetylglutamate synthase deficiencyAR1248
NBASInfantile liver failure syndrome 2, Short stature, optic nerve atrophy, and Pelger-Huet anomaly (SOPH syndrome)AR2343
OATGyrate atrophy of choroid and retinaAR6771
OTCOrnithine transcarbamylase deficiencyXL343513
PCPyruvate carboxylase deficiencyAR3241
PCCAPropionic acidemiaAR66125
PCCB#Propionic acidemiaAR68115
SLC22A5Carnitine deficiency, systemic primaryAR98151
SLC25A13Citrin deficiencyAR24113
SLC25A15*Hyperornithinemia-hyperammonemia-homocitrullinemia syndromeAR2436
SLC25A20Carnitine-acylcarnitine translocase deficiencyAR1542
SLC7A7Lysinuric protein intoleranceAR5567
SUCLA2Mitochondrial DNA depletion syndromeAR929
SUCLG1Mitochondrial DNA depletion syndromeAR1228
TMEM70Mitochondrial complex V (ATP synthase) deficiencyAR1218
UMPSOrotic aciduriaAR312
GeneAssociated phenotypesInheritanceClinVarHGMD
DNAJC12Hyperphenylalaninemia, mild, non-BH4-deficient, Dystonia, Other hyperphenylalaninemiasAR38
GCH1Dopa-Responsive Dystonia Hyperphenylalaninemia, BH4-deficient, GTP Cyclohydrolase 1-Deficient Dopa-Responsive DystoniaAD/AR48240
PAHHyperphenylalaninemia, non-PKU mild, PhenylketonuriaAR294966
PCBD1Hyperphenylalaninemia, BH4-deficientAR611
PTSHyperphenylalaninemia, BH4-deficientAR34112
QDPRHyperphenylalaninemia, BH4-deficientAR1466
GeneAssociated phenotypesInheritanceClinVarHGMD
ALDOBFructose intolerance, hereditaryAR4167
ATP7BWilson diseaseAR219897
FAHTyrosinemiaAR53102
GALEGalactose epimerase deficiencyAR1226
GALK1Galactokinase deficiencyAR1544
GALTGalactosemiaAR238330
LIPAWolman disease, Cholesterol ester storage diseaseAR2793
MPICongenital disorder of glycosylationAR2720
NPC1Niemann-Pick diseaseAR164472
NPC2Niemann-pick diseaseAR2127
PHKA2Glycogen storage diseaseXL36114
PHKBGlycogen storage diseaseAR926
PHKG2Glycogen storage diseaseAR1233
PYGLGlycogen storage diseaseAR2144
SERPINA1Alpha-1-antitrypsin deficiencyAR4980
SMPD1Niemann-Pick diseaseAR110249
GeneAssociated phenotypesInheritanceClinVarHGMD
AGK*Sengers syndrome, Cataract 38AR1827
APTXAtaxia, early-onset, with oculomotor apraxia and hypoalbuminemiaAR1446
AUH3-methylglutaconic aciduriaAR1211
C10ORF2Perrault syndrome, Mitochondrial DNA depletion syndrome, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 3AR3780
C12ORF65Spastic paraplegia, Combined oxidative phosphorylation deficiencyAR1011
DGUOKMitochondrial DNA depletion syndrome, Portal hypertension, noncirrhotic, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4AR2362
FBXL4Mitochondrial DNA depletion syndromeAR5547
MFN2Hereditary motor and sensory neuropathy, Charcot-Marie-Tooth diseaseAD/AR70223
MPV17Mitochondrial DNA depletion syndromeAR3550
MT-ATP6Neuropathy, ataxia, and retinitis pigmentosa, Leber hereditary optic neuropathy, Ataxia and polyneuropathy, adult-onset, Cardiomyopathy, infantile hypertrophic, Leigh syndrome, Striatonigral degeneration, infantile, mitochondrialMitochondrial19
MT-ATP8Cardiomyopathy, apical hypertrophic, and neuropathy, Cardiomyopathy, infantile hypertrophicMitochondrial4
MT-CO1Myoglobinuria, recurrent, Leber hereditary optic neuropathy, Sideroblastic anemia, Cytochrome C oxidase deficiencyMitochondrial17
MT-CO2Cytochrome c oxidase deficiencyMitochondrial8
MT-CO3Cytochrome c oxidase deficiency, Leber hereditary optic neuropathyMitochondrial9
MT-CYBLeber hereditary optic neuropathyMitochondrial69
MT-ND1Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes, Leber hereditary optic neuropathy, Leber optic atrophy and dystoniaMitochondrial21
MT-ND2Leber hereditary optic neuropathy, Mitochondrial complex I deficiencyMitochondrial6
MT-ND3Leber optic atrophy and dystonia, Mitochondrial complex I deficiencyMitochondrial7
MT-ND4Leber hereditary optic neuropathy, Leber optic atrophy and dystonia, Mitochondrial complex I deficiencyMitochondrial11
MT-ND4LLeber hereditary optic neuropathyMitochondrial2
MT-ND5Myoclonic epilepsy with ragged red fibers, Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes, Leber hereditary optic neuropathy, Mitochondrial complex I deficiencyMitochondrial19
MT-ND6Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes, Oncocytoma, Leber hereditary optic neuropathy, Leber optic atrophy and dystonia, Mitochondrial complex I deficiencyMitochondrial16
MT-RNR1Deafness, mitochondrialMitochondrial3
MT-RNR2Chloramphenicol toxicity/resistanceMitochondrial2
MT-TALeber hereditary optic neuropathy, Mitochondrial multisystemic disorder, Progressive external ophthalmoplegia, Dilated cardiomyopathy (DCM)Mitochondrial4
MT-TCMitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodesMitochondrial3
MT-TDMitochondrial multisystemic disorderMitochondrial1
MT-TEDiabetes-deafness syndrome, Mitochondrial myopathy, infantile, transient, Mitochondrial myopathy with diabetesMitochondrial5
MT-TFMyoclonic epilepsy with ragged red fibers, Nephropathy, tubulointerstitial, Encephalopathy, mitochondrial, Epilepsy, mitochondrial, Myopathy, mitochondrial, Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodesMitochondrial7
MT-TGHypertrophic cardiomyopathy, Encephalopathy, MyopathyMitochondrial3
MT-THMitochondrial encephalomyopathy with lactic acidosis and stroke-like episodesMitochondrial4
MT-TIProgressive external ophthalmoplegiaMitochondrial7
MT-TKMyoclonic epilepsy with ragged red fibersMitochondrial5
MT-TL1Cytochrome c oxidase deficiency, Myoclonic epilepsy with ragged red fibers, Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes, Diabetes-deafness syndrome, Cyclic vomiting syndrome, SIDS, susceptibility toMitochondrial14
MT-TL2Progressive external ophthalmoplegia, Mitochondrial multisystemic disorderMitochondrial5
MT-TMMitochondrial Myopathy, Leigh syndrome, Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodesMitochondrial1
MT-TNProgressive external ophthalmoplegiaMitochondrial3
MT-TPMitochondrial multisystemic disorderMitochondrial2
MT-TQMitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes, EncephalopathyMitochondrial2
MT-TRDilated cardiomyopathy (DCM)Mitochondrial2
MT-TS1Myoclonic epilepsy with ragged red fibers, Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodesMitochondrial10
MT-TS2Mitochondrial multisystemic disorderMitochondrial2
MT-TTMitochondrial5
MT-TVMitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodesMitochondrial3
MT-TWLeigh syndrome, Mitochondrial MyopathyMitochondrial8
MT-TYMitochondrial4
NDUFS1Mitochondrial complex I deficiencyAR2228
OPA1Optic atrophy, Optic atrophy 1, Optic atrophy with or without deafness, Ophthalmoplegia, myopathy, ataxia, and neuropathy, Behr synrome, Mitochondrial DNA depletion syndrome 14AD/AR96390
OPA3Optic atrophy, 3-methylglutaconic aciduriaAD/AR1315
POLGPOLG-related ataxia neuropathy spectrum disorders, Sensory ataxia, dysarthria, and ophthalmoparesis, Alpers syndrome, Progressive external ophthalmoplegia with mitochondrial DNA deletions, Mitochondrial DNA depletion syndromeAD/AR89290
POLG2Progressive external ophthalmoplegia with mitochondrial DNA deletionsAD514
RRM2BProgressive external ophthalmoplegia with mitochondrial DNA deletions, Mitochondrial DNA depletion syndromeAD/AR4141
SLC25A3Micochondrial phosphate carrier deficiencyAR25
SLC25A4Progressive external ophthalmoplegia with mitochondrial DNA deletions, Mitochondrial DNA depletion syndromeAD/AR1214
SPG7Spastic paraplegiaAR69111
SUCLA2Mitochondrial DNA depletion syndromeAR929
SUCLG1Mitochondrial DNA depletion syndromeAR1228
TIMM8A*Mohr-Tranebjaerg syndrome, Jensen syndrome, Opticoacoustic nerve atrophy with dementiaXL1121
TK2#Mitochondrial DNA depletion syndromeAR3852
TMEM126AOptic atrophyAR31
TYMPMitochondrial DNA depletion syndromeAR8494
WFS1Wolfram syndrome, Deafness, Wolfram-like syndrome, autosomal dominant, Deafness, autosomal dominant 6/14/38, Cataract 41AD/AR69362
GeneAssociated phenotypesInheritanceClinVarHGMD
ADCY10Absorptive hypercalciuriaAD6
AGXTHyperoxaluriaAR190205
ALPLOdontohypophosphatasia, Hypophosphatasia perinatal lethal, infantile, juvenile and adult formsAD/AR78291
APRTAdenine phosphoribosyltransferase deficiencyAR1147
ATP6V0A4Renal tubular acidosis, distalAR1684
ATP6V1B1Renal tubular acidosis with deafnessAR1556
CA2Osteopetrosis, with renal tubular acidosisAR931
CASRHypocalcemia, Neonatal hyperparathyroidism, Familial Hypocalciuric hypercalcemia with transient Neonatal hyperparathyroidismAD/AR104396
CLCN5Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis, Hypophosphatemic rickets,, Nephrolithiasis, I, Dent diseaseXL48272
CLDN16Hypomagnesemia, renalAR2162
CLDN19Hypomagnesemia, renalAR720
CYP24A1Hypercalcemia, infantile 1AR840
FAM20AAmelogenesis imperfecta (Enamel-renal syndrome)AR1941
GNA11Hypocalcemia, Hypocalciuric hypercalcemiaAD1111
GPHNHyperekplexia, Molybdenum cofactor deficiencyAD/AR3520
GRHPRHyperoxaluriaAR6040
HNF4ACongenital hyperinsulinism, diazoxide-responsive, Maturity onset diabetes of the young, Fanconi renotubular syndrome 4 with maturity-onset diabetes of the youngAD32147
HOGA1HyperoxaluriaAD/AR3733
HPRT1Lesch-Nyhan syndrome, Kelley-Seegmiller syndromeXL72427
KCNJ1Bartter syndrome, antenatalAR1166
MOCOSXanthinuria, type IIAR35
MOCS1*Molybdenum cofactor deficiencyAR735
OCRLLowe syndrome, Dent diseaseXL47264
SLC12A1Bartter syndrome, antenatalAR1881
SLC22A12Hypouricemia, renal 1AR840
SLC26A1Nephrolithiasis, calcium oxalateAR185
SLC2A9Hypouricemia, renal, 2AD/AR920
SLC34A1Nephrolithiasis/osteoporosis, hypophosphatemic, Fanconi renotubular syndrome, Hypercalcemia, infantile 2AD/AR2229
SLC34A3Hypophosphatemic rickets with hypercalciuriaAR2238
SLC3A1CystinuriaAR26241
SLC4A1Spherocytosis, Ovalcytosis, Renal tubular acidosis, distal, with hemolytic anemia, Cryohydrocytosis, Acanthocytosis, Band 3 MemphisAD/AR/BG38122
SLC7A9CystinuriaAD/AR24159
SLC9A3R1Nephrolithiasis/osteoporosis, hypophosphatemic, 2AD7
VDRVitamin D-dependent ricketsAD/AR1766
XDHXanthinuria, type IAR1021
GeneAssociated phenotypesInheritanceClinVarHGMD
ADASevere combined immunodeficiency due to adenosine deaminase deficiencyAR4993
ADSLAdenylosuccinase deficiencyAR2457
AMPD1Myoadenylate deaminase deficiencyAR510
APRTAdenine phosphoribosyltransferase deficiencyAR1147
ATICAICAR transformylase/IMP cyclohydrolase deficiencyAR26
DHODHPostaxial acrofacial dysostosis (Miller syndrome)AR820
DPYD5-fluorouracil toxicity, Developmental delay with or without dysmorphic facies and autismAD/AR6286
DPYSDihydropyriminidase deficiencyAR829
GPHNHyperekplexia, Molybdenum cofactor deficiencyAD/AR3520
HPRT1Lesch-Nyhan syndrome, Kelley-Seegmiller syndromeXL72427
MOCOSXanthinuria, type IIAR35
MOCS1*Molybdenum cofactor deficiencyAR735
NT5C3AUridine 5-prime monophosphate hydrolase deficiency, hemolytic anemia due toAR1028
PNPPurine nucleoside phosphorylase deficiencyAR1133
PRPS1*Phosphoribosylpyrophosphate synthetase I superactivity, Arts syndrome, Charcot-Marie-Tooth disease, X-linked recessive, 5, Deafness, X-linked 1XL2732
RENHyperuricemic nephropathy, Hyperproreninemia, familial, Renal tubular dysgenesisAD/AR918
TPMT*Thiopurine S-methyltransferase deficiencyAR16
UMODFamilial juvenile hyperuricemic nephropathy, Glomerulocystic kidney disease with hyperuricemia and isosthenuria, Medullary cystic kidney disease 2AD33108
UMPSOrotic aciduriaAR312
UPB1Beta-ureidopropionase deficiencyAR517
XDHXanthinuria, type IAR1021
GeneAssociated phenotypesInheritanceClinVarHGMD
FAHTyrosinemiaAR53102
HPDHawksinuria, TyrosinemiaAD/AR69
TATTyrosinemia, type IIAR1936