GeneAssociated phenotypesInheritanceClinVarHGMD
AMHPersistent Mullerian duct syndromeAR556
AMHR2Persistent Mullerian duct syndromeAR637
ANOS1*Kallmann syndromeXL/Digenic36186
ARAndrogen insensitivity, Spinal and bulbar muscular atrophy, X-linked 1, Hypospadias 1, X-linkedXL147612
ARX#Lissencephaly, Epileptic encephalopathy, Corpus callosum, agenesis of, with abnormal genitalia, Partington syndrome, Proud syndrome, Hydranencephaly with abnormal genitalia, Mental retardationXL6693
ATRXCarpenter-Waziri syndrome, Alpha-thalassemia/mental retardation syndrome, Holmes-Gang syndrome, Juberg-Marsidi syndrome, Smith-Fineman-Myers syndrome, Mental retardation-hypotonic facies syndromeXL65165
BCORMicrophthalmia, syndromic, Oculofaciocardiodental syndromeXL4053
CDK9AR1
CDKN1CBeckwith-Wiedemann syndrome, IMAGE syndromeAD3581
CEP41Joubert syndromeAR/Digenic711
CHD7Isolated gonadotropin-releasing hormone deficiency, CHARGE syndromeAD276860
CREBBPRubinstein-Taybi syndromeAD175362
CYB5A46, XY disorder of sex development, Methemoglobinemia, type IVAR35
CYP11A1Adrenal insufficiency, congenital, with 46,XY sex reversal, partial or completeAD/AR1428
CYP11B1*Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency, Glucocorticoid-remediable aldosteronismAD/AR55147
CYP17A1Adrenal hyperplasia, congenital, due to 17-alpha-hydroxylase deficiencyAR35126
CYP19A1Aromatase deficiency, Aromatase excess syndromeAR1752
CYP21A2*Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency, Hyperandrogenism, nonclassic , due to 21-hydroxylase deficiencyAR48296
DHCR7Smith-Lemli-Opitz syndromeAR88217
DHH46,XY partial gonadal dysgenesis, with minifascicular neuropathy, 46,XY sex reversal 7AD/AR518
DYNC2H1Short -rib thoracic dysplasia with or without polydactyly type 1, Short -rib thoracic dysplasia with or without polydactyly type 3, Asphyxiating thoracic dysplasia (ATD; Jeune), SRPS type 2 (Majewski)AR/Digenic148205
ERCC3Xeroderma pigmentosum, Trichothiodystrophy, photosensitiveAR1019
FEZF1Hypogonadotropic hypogonadism 22 with or without anosmia, Kallmann syndromeAR23
FGF8Hypogonadotropic hypogonadismAD/Digenic1836
FGFR1Pfeiffer syndrome, Trigonocephaly, Hypogonadotropic hypogonadism, Osteoglophonic Dwarfism – Craniostenosis, Hartsfield syndromeAD/Digenic/Multigenic72257
FIG4Amyotrophic lateral sclerosis, Polymicrogyria, bilateral occipital, Yunis-Varon syndrome, Charcot-Marie-Tooth diseaseAD/AR3469
FRAS1Fraser syndromeAR2758
GATA4*Tetralogy of Fallot, Atrioventricular septal defect, Testicular anomalies with or without congenital heart disease, Ventricular septal defect, Atrial septal defectAD37140
GNRH1Hypogonadotropic hypogonadism 12 with or without anosmiaAR/Digenic110
GNRHRHypogonadotropic hypogonadismAD/AR/Digenic2358
HSD17B317-Beta hydroxysteroid dehydrogenase III deficiencyAR2463
HSD3B23-beta-hydroxysteroid dehydrogenase, II deficiencyAR1163
IL17RDHypogonadotropic hypogonadismAD/Digenic610
IRF6Orofacial cleft, Popliteal pterygium syndrome, van der Woude syndromeAD45338
KISS1Hypogonadotropic hypogonadism 13 with or without anosmia, Central precocious pubertyAR110
KISS1RPrecocious puberty, central 1AD/AR736
LHB*Hypogonadotropic hypogonadism 23 with or without anosmiaAR68
LHCGRPrecocious puberty, male, Leydig cell hypoplasia, Luteinizing hormone resistance, femaleAR3476
MAMLD1Hypospadias 2, X-linkedXL520
MAP3K146,XY sex reversal 6AD927
MKRN3Central precocious pubertyAD632
MKS1Bardet-Biedl syndrome, Meckel syndromeAR5052
NR0B1Adrenal hypoplasia, congenital, 46,XY sex reversalXL73252
NR5A1Adrenocortical insufficiency, Premature ovarian failure, 46,XY sex reversalAD/AR28183
PORDisordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency, Antley-Bixler syndromeAR1470
PROK2Hypogonadism, hypogonadotropic, Kallmann syndromeAD/AR720
PROKR2Hypogonadotropic hypogonadismAD/AR954
RSPO1Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and 46,XX sex reversalAR35
SAMD9Mirage syndrome, Tumoral calcinosis, normophosphatemicAD/AR1027
SGPL1Nephrotic syndrome 14AR817
SOX10Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease, Kallmann syndromeAD56148
SOX9Campomelic dysplasia, 46,XY sex reversal, Brachydactyly with anonychia (Cooks syndrome)AD47144
SRD5A2Steroid 5-alpha-reductase 2 deficiencyAR45119
SRY46,XX disorder of sex development, 46,XY disorder of sex developmentYL29109
STARLipoid adrenal hyperplasiaAR3483
TAC3Hypogonadotropic hypogonadismAR510
TACR3Hypogonadotropic hypogonadismAR836
TOE1Pontocerebellar hypoplasia type 71112
TSPYL1Sudden infant death with dysgenesis of the testes syndrome, 46, XY disorder of sex developmentAR18
WDR11Hypogonadotropic hypogonadism, Kallmann syndromeAD317
WT1Denys-Drash syndrome, Frasier syndrome, Wilms tumor, Nephrotic syndrome, type 4AD42183
ZFPM246,XY sex reversal, Diaphragmatic hernia 3, Tetralogy of FallotAD/AR950
GeneAssociated phenotypesInheritanceClinVarHGMD
ABCC8Hyperinsulinemic hypoglycemia, Diabetes, permanent neonatal, Hypoglycemia, leucine-induced, Diabetes mellitus, transient neonatal, Pulmonary arterial hypertension (PAH)AD/AR170641
APPL1Maturity-onset diabetes of the young, type 14AD22
BLKMaturity onset diabetes of the youngAD59
CEL*Maturity-onset diabetes of the young, type 8AD413
EIF2AK3SED, Wolcott-Rallison typeAR980
FOXP3Immunodysregulation, polyendocrinopathy, and enteropathyXL2893
GATA6Heart defects, congenital, and other congenital anomalies, Atrial septal defect 9, atrioventricular septal defect 5, Persistent truncus arteriosus, Tetralogy of FallotAD1682
GCKHyperinsulinemic hypoglycemia, familial, Diabetes mellitus, permanent neonatal, Maturity-onset diabetes of the young, type 2AD/AR178837
GLIS3Diabetes mellitus, neonatal, with congenital hypothyroidismAR718
GLUD1*Hyperammonemia-hyperinsulinism, Hyperinsulinemic hypoglycemiaAD/AR1438
HADH3-hydroxyacyl-CoA dehydrogenase deficiencyAR1026
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
INSDiabetes mellitus, permanent neonatal, Hyperproinsulinemia, familial, with or without diabetes, Maturity onset diabetes of the youngAD3378
INSRHyperinsulinemic hypoglycemia, familial, Rabson-Mendenhall syndrome, Donohoe syndromeAD/AR44190
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
KLF11Maturity onset diabetes of the youngAD14
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
NEUROD1Maturity onset diabetes of the youngAD318
NEUROG3Diarrhea, malabsorptive, congenitalAR38
PAX4Diabetes mellitusAD310
PDX1Pancreatic agenesis, Neonatal diabetes mellitus, Maturity-onset diabetes of the young, type 4, Lactic acidemia due to PDX1 deficiencyAD/AR1028
PPARGInsulin resistance, Lipodystrophy, familial, partialAD/Digenic (Severe digenic insulin resistance can be due to digenic mutations in PPP1R3A and PPARG)1949
PTF1APancreatic and cerebellar agenesis, Pancreatic agenesis 2AR416
RFX6Pancreatic hypoplasia, intestinal atresia, and gallbladder aplasia or hypoplasia, with or without tracheoesophageal fistula, Martinez-Frias syndrome, Mitchell-Riley syndromeAR1031
SLC16A1Hyperinsulinemic hypoglycemia, familial, Erythrocyte lactate transporter defect, Monocarboxylate transporter 1 deficiency, Myoclonic-atonic epilepsyAD/AR1214
SLC2A2Glycogen storage disease, Fanconi-Bickel syndrome, Neonatal diabetes mellitusAR2473
UCP2HyperinsulinismAD/AR7
WFS1Wolfram syndrome, Deafness, Wolfram-like syndrome, autosomal dominant, Deafness, autosomal dominant 6/14/38, Cataract 41AD/AR69362
ZFP57Diabetes mellitus, transient neonatal, 1AD715
GeneAssociated phenotypesInheritanceClinVarHGMD
ARMC5ACTH-independent macronodular adrenal hyperplasia 2AD754
CYP11A1Adrenal insufficiency, congenital, with 46,XY sex reversal, partial or completeAD/AR1428
CYP11B1*Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency, Glucocorticoid-remediable aldosteronismAD/AR55147
CYP11B2*Corticosterone methyloxidase type I deficiency, Corticosterone methyloxidase type II deficiency, Glucocorticoid-remediable aldosteronismAR1144
CYP17A1Adrenal hyperplasia, congenital, due to 17-alpha-hydroxylase deficiencyAR35126
CYP21A2*Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency, Hyperandrogenism, nonclassic , due to 21-hydroxylase deficiencyAR48296
HSD3B23-beta-hydroxysteroid dehydrogenase, II deficiencyAR1163
PDE11APigmented nodular adrenocortical disease, primary, 2AD1214
PDE8BPigmented nodular adrenocortical disease, Striatal degeneration, autosomal dominant 1AD411
PORDisordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency, Antley-Bixler syndromeAR1470
PRKAR1AMyxoma, intracardiac, Acrodysostosis, Pigmented nodular adrenocortical disease, Carney complexAD75183
STARLipoid adrenal hyperplasiaAR3483
GeneAssociated phenotypesInheritanceClinVarHGMD
AAASAchalasia-addisonianism-alacrimia syndromeAR2079
MC2RGlucocorticoid deficiencyAR2151
MRAPGlucocorticoid deficiencyAR1214
NNTGlucocorticoid deficiencyAR1345
NR3C1Glucocorticoid resistanceAD/AR1027
POMCProopiomelanocortin deficiencyAR1036
STARLipoid adrenal hyperplasiaAR3483
GeneAssociated phenotypesInheritanceClinVarHGMD
ABCA1Tangier disease, ABCA1 deficiency, HDL deficiency, Familial hypoalphalipoproteinemiaAD/AR25218
ABCG5SitosterolemiaAR1342
ABCG8SitosterolemiaAR1844
ALMS1*Alström syndromeAR197302
APOA1Amyloidosis, systemic nonneuronopathic, HypoalphalipoproteinemiaAD/AR2871
APOA5HyperchylomicronemiaAD/AR361
APOBHypobetalipoproteinemia, HypercholesterolemiaAD/AR69306
APOC2Hyperlipoproteinemia, type IbAR1322
APOC3Apolipoprotein C-III deficiencyAD68
APOESea-blue histiocyte disease, Dysbetalipoproteinemia, familial (Hyperlipoproteinemia), Lipoprotein glomerulopathyAD/AR3155
CREB3L3HypertriglyceridaemiaAD9
GPIHBP1Hyperlipoproteinemia, type IDAR1031
LDLRHypercholesterolemiaAD/AR17192180
LDLRAP1HypercholesterolemiaAR1023
LIPAWolman disease, Cholesterol ester storage diseaseAR2793
LMF1Combined lipase deficiencyAR414
LPLLipoprotein lipase deficiency, Hyperlipoproteinemia, Combined hyperlipidemia, familialAD/AR44209
PCSK9HypercholesterolemiaAD2989
GeneAssociated phenotypesInheritanceClinVarHGMD
AIREAutoimmune polyendocrinopathy syndromeAD/AR73134
AP2S1Hypocalciuric hypercalcemia, familial, type IIIAD35
CASRHypocalcemia, Neonatal hyperparathyroidism, Familial Hypocalciuric hypercalcemia with transient Neonatal hyperparathyroidismAD/AR104396
CDC73Carcinoma, parathyroid, Hyperparathyroidism, Hyperparathyroidism-jaw tumor syndromeAD50101
CDKN1AFamilial isolated hyperparathyroidism, Multiple endocrine neoplasia type IAD2
CDKN1BMultiple endocrine neoplasiaAD1320
CDKN2BFamilial isolated hyperparathyroidism, Multiple endocrine neoplasia type IAD8
CDKN2CFamilial isolated hyperparathyroidism, Multiple endocrine neoplasia type IAD2
GCM2Hypoparathyroidism, familial isolated, Hyperparathyroidism 4AD/AR920
GNA11Hypocalcemia, Hypocalciuric hypercalcemiaAD1111
MEN1Hyperparathyroidism, familial primary, Multiple endocrine neoplasiaAD263730
PTHHypoparathyroidism, autosomal dominant, Hypoparathyroidism, autosomal recessiveAR58
RETHirschsprung disease, Central hypoventilation syndrome, congenital, Pheochromocytoma, Medullary thyroid carcinoma, Multiple endocrine neoplasiaAD/AR122407
TRPV6HyperparathyroidismAR9
GeneAssociated phenotypesInheritanceClinVarHGMD
ABCC8Hyperinsulinemic hypoglycemia, Diabetes, permanent neonatal, Hypoglycemia, leucine-induced, Diabetes mellitus, transient neonatal, Pulmonary arterial hypertension (PAH)AD/AR170641
ACAT1Alpha-methylacetoacetic aciduriaAR3195
ACSF3Combined malonic and methylmalonic aciduriaAR1822
AGLGlycogen storage diseaseAR142245
ALDOAGlycogen storage diseaseAR38
ALDOBFructose intolerance, hereditaryAR4167
ENO3Glycogen storage diseaseAR36
EPM2AEpilepsy, progressive myoclonicAR1777
FBP1Fructose-1,6-bisphosphatase deficiencyAR2544
G6PCGlycogen storage diseaseAR46117
GAAGlycogen storage diseaseAR193573
GBE1Glycogen storage diseaseAR3670
GCKHyperinsulinemic hypoglycemia, familial, Diabetes mellitus, permanent neonatal, Maturity-onset diabetes of the young, type 2AD/AR178837
GLUD1*Hyperammonemia-hyperinsulinism, Hyperinsulinemic hypoglycemiaAD/AR1438
GYG1Glycogen storage disease, Polyglucosan body myopathy 2AR916
GYS1Glycogen storage diseaseAR85
GYS2Glycogen storage diseaseAR2023
HADH3-hydroxyacyl-CoA dehydrogenase deficiencyAR1026
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
HNF4ACongenital hyperinsulinism, diazoxide-responsive, Maturity onset diabetes of the young, Fanconi renotubular syndrome 4 with maturity-onset diabetes of the youngAD32147
INSRHyperinsulinemic hypoglycemia, familial, Rabson-Mendenhall syndrome, Donohoe syndromeAD/AR44190
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
LAMP2Danon diseaseXL62101
LDHAGlycogen storage diseaseAR19
MPV17Mitochondrial DNA depletion syndromeAR3550
NHLRC1Epilepsy, progressive myoclonicAR1470
OXCT1Succinyl CoA:3-oxoacid CoA transferase deficiencyAR733
PCPyruvate carboxylase deficiencyAR3241
PCK1Phosphoenolpyruvate carboxykinase 1 deficiencyAD/AR23
PDX1Pancreatic agenesis, Neonatal diabetes mellitus, Maturity-onset diabetes of the young, type 4, Lactic acidemia due to PDX1 deficiencyAD/AR1028
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
PRKAG2Hypertrophic cardiomyopathy (HCM), Wolff-Parkinson-White syndrome, Glycogen storage disease of heart, lethal congenitalAD1957
PRKAG3Increased glyogen content in skeletal muscleAD11
PTF1APancreatic and cerebellar agenesis, Pancreatic agenesis 2AR416
PYGLGlycogen storage diseaseAR2144
PYGMGlycogen storage diseaseAR77168
RBCK1Polyglucosan body myopathyAR1114
SLC16A1Hyperinsulinemic hypoglycemia, familial, Erythrocyte lactate transporter defect, Monocarboxylate transporter 1 deficiency, Myoclonic-atonic epilepsyAD/AR1214
SLC2A2Glycogen storage disease, Fanconi-Bickel syndrome, Neonatal diabetes mellitusAR2473
SLC37A4Glycogen storage diseaseAR49113
UCP2HyperinsulinismAD/AR7
GeneAssociated phenotypesInheritanceClinVarHGMD
BSNDSensorineural deafness with mild renal dysfunction, Bartter syndromeAR1020
CASRHypocalcemia, Neonatal hyperparathyroidism, Familial Hypocalciuric hypercalcemia with transient Neonatal hyperparathyroidismAD/AR104396
CLCNKB*Bartter syndromeAR/Digenic19119
CLDN16Hypomagnesemia, renalAR2162
CLDN19Hypomagnesemia, renalAR720
CNNM2Hypomagnesemia, renal, Hypomagnesemia, seizures, and mental retardationAR56
CNNM4Jalili syndromeAR1124
EGFHypomagnesemia, renalAR14
FAM111AKenny-Caffey syndrome, type 2AD59
FXYD2Hypomagnesemia, renalAD11
HNF1BRenal cell carcinoma, nonpapillary chromophobe, Renal cysts and diabetes syndromeAD35234
KCNA1Episodic ataxia/myokymia syndromeAD2445
KCNJ10Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance (SESAME syndrome), Pendred syndrome, Enlarged vestibular aqueductAR/Digenic1329
MAGT1Immunodeficiency, with magnesium defect, Epstein-Barr virus infection and neoplasia, Mental retardation, X-linked 95XL814
NIPA2HypomagnesemiaAD/AR14
PCBD1Hyperphenylalaninemia, BH4-deficientAR611
SARS2Hyperuricemia, pulmonary hypertension, renal failure, and alkalosisAR65
SLC12A3Gitelman syndromeAR49489
TRPM6Hypomagnesemia, intestinalAR1561
GeneAssociated phenotypesInheritanceClinVarHGMD
DUOX2*Thyroid dyshormonogenesisAD/AR20155
DUOXA2Thyroid dyshormonogenesis 5AR517
FOXE1Thyroid cancer, nonmedullary 4, Hypothyroidism, thyroidal, with spiky hair and cleft palate (Bamforth-Lazarus syndrome), Congenital hypothyroidismAD/AR423
GNASMcCune-Albright syndrome, Progressive osseous heteroplasia, Pseudohypoparathyroidism, Albright hereditary osteodystrophyAD64274
HESX1Septooptic dysplasia, Pituitary hormone deficiency, combinedAR/AD1526
IGSF1Central hypothyroidism and testicular enlargementXL741
NKX2-1Thyroid cancer, nonmedullary, Choreoathetosis, hypothyroidism, and neonatal respiratory distress, Chorea, hereditary benignAD27137
NKX2-5Conotruncal heart malformations, Hypothyroidism, congenital nongoitrous,, Atrial septal defect, Ventricular septal defect 3, Conotruncal heart malformations, variable, Tetralogy of FallotAD45108
PAX8Hypothyroidism, congenital, nongoitrousAD845
POU1F1Pituitary hormone deficiency, combinedAR2041
PROP1Pituitary hormone deficiency, combinedAR3337
SECISBP2Selenoprotein deficiencyAR514
SLC16A2Allan-Herndon-Dudley syndromeXL3984
SLC26A4Deafness, Pendred syndrome, Enlarged vestibular aqueductAR181548
SLC5A5Thyroid dyshormonogenesisAR816
TBL1XCongenital hypothyroidism, Hearing loss28
TGThyroid dyshormonogenesisAR25131
THRAHypothyroidism, congenital, nongoitrous, 6AD813
THRBThyroid hormone resistanceAD/AR61165
TPOThyroid dyshormonogenesisAR20120
TSHBHypothyroidism, congenital, nongoitrousAR614
TSHRHyperthyroidism, nonautoimmune, Hypothyroidism, congenital, nongoitrous,, Hyperthyroidism, familial, gestationalAD/AR36142
GeneAssociated phenotypesInheritanceClinVarHGMD
ANOS1*Kallmann syndromeXL/Digenic36186
CDK9AR1
CHD7Isolated gonadotropin-releasing hormone deficiency, CHARGE syndromeAD276860
FEZF1Hypogonadotropic hypogonadism 22 with or without anosmia, Kallmann syndromeAR23
FGF8Hypogonadotropic hypogonadismAD/Digenic1836
FGFR1Pfeiffer syndrome, Trigonocephaly, Hypogonadotropic hypogonadism, Osteoglophonic Dwarfism – Craniostenosis, Hartsfield syndromeAD/Digenic/Multigenic72257
GNRH1Hypogonadotropic hypogonadism 12 with or without anosmiaAR/Digenic110
GNRHRHypogonadotropic hypogonadismAD/AR/Digenic2358
HS6ST1*Hypogonadotropic hypogonadism 15, with or without anosmia, Kallmann syndromeAD7
KISS1Hypogonadotropic hypogonadism 13 with or without anosmia, Central precocious pubertyAR110
KISS1RPrecocious puberty, central 1AD/AR736
PROK2Hypogonadism, hypogonadotropic, Kallmann syndromeAD/AR720
PROKR2Hypogonadotropic hypogonadismAD/AR954
SOX10Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease, Kallmann syndromeAD56148
TAC3Hypogonadotropic hypogonadismAR510
TACR3Hypogonadotropic hypogonadismAR836
WDR11Hypogonadotropic hypogonadism, Kallmann syndromeAD317
GeneAssociated phenotypesInheritanceClinVarHGMD
ABCC8Hyperinsulinemic hypoglycemia, Diabetes, permanent neonatal, Hypoglycemia, leucine-induced, Diabetes mellitus, transient neonatal, Pulmonary arterial hypertension (PAH)AD/AR170641
APPL1Maturity-onset diabetes of the young, type 14AD22
BLKMaturity onset diabetes of the youngAD59
CEL*Maturity-onset diabetes of the young, type 8AD413
GCKHyperinsulinemic hypoglycemia, familial, Diabetes mellitus, permanent neonatal, Maturity-onset diabetes of the young, type 2AD/AR178837
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
INSDiabetes mellitus, permanent neonatal, Hyperproinsulinemia, familial, with or without diabetes, Maturity onset diabetes of the youngAD3378
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
KLF11Maturity onset diabetes of the youngAD14
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
NEUROD1Maturity onset diabetes of the youngAD318
PAX4Diabetes mellitusAD310
PDX1Pancreatic agenesis, Neonatal diabetes mellitus, Maturity-onset diabetes of the young, type 4, Lactic acidemia due to PDX1 deficiencyAD/AR1028
RFX6Pancreatic hypoplasia, intestinal atresia, and gallbladder aplasia or hypoplasia, with or without tracheoesophageal fistula, Martinez-Frias syndrome, Mitchell-Riley syndromeAR1031
GeneAssociated phenotypesInheritanceClinVarHGMD
ADCY3Developmental delay, intellectual disability, obesity, and dysmorphismAR6
ALMS1*Alström syndromeAR197302
ARL6Bardet-Biedl syndrome, Retinitis pigmentosaAR1421
BBS1Bardet-Biedl syndromeAR66103
BBS10Bardet-Biedl syndromeAR90107
BBS12Bardet-Biedl syndromeAR3658
BBS2Bardet-Biedl syndrome, Retinitis pigmentosaAR5891
BBS4Bardet-Biedl syndromeAR2553
BBS5Bardet-Biedl syndromeAR1831
BBS7Bardet-Biedl syndromeAR1943
BBS9Bardet-Biedl syndromeAR2752
CEP19Morbid obesity and spermatogenic failure, Bardet-Biedl syndromeAR22
CEP290*Bardet-Biedl syndrome, Leber congenital amaurosis, Joubert syndrome, Senior-Loken syndrome, Meckel syndromeAR130289
CPEObesity, severe, and type II diabetesAR2
CUL4BMental retardation, syndromic, CabezasXL2338
DYRK1BAbdominal obesity-metabolic syndromeAD22
GNASMcCune-Albright syndrome, Progressive osseous heteroplasia, Pseudohypoparathyroidism, Albright hereditary osteodystrophyAD64274
KSR2Developmental delay, intellectual disability, obesity, and dysmorphismAD28
LEPLeptin deficiencyAR520
LEPR#Leptin receptor deficiencyAR430
MAGEL2Schaaf-Yang syndrome (Prader-Willi-like syndrome)AD2219
MC3RObesity due to MC3R deficiencyAD/AR17
MC4RDevelopmental delay, intellectual disability, obesity, and dysmorphismAD37152
MKKSBardet-Biedl syndrome, McKusick-Kaufman syndromeAR2159
MKS1Bardet-Biedl syndrome, Meckel syndromeAR5052
NR0B2Obesity, mild, early-onsetAD/AR215
NTRK2Obesity, hyperphagia, and developmental delayAD45
PCSK1Proprotein convertase 1/3 deficiencyAD/AR537
PHF6Borjeson-Forssman-Lehmann syndromeXL2229
PHIPDevelopmental delay, intellectual disability, obesity, and dysmorphismAD2028
POMCProopiomelanocortin deficiencyAR1036
PPARGInsulin resistance, Lipodystrophy, familial, partialAD/Digenic (Severe digenic insulin resistance can be due to digenic mutations in PPP1R3A and PPARG)1949
SDCCAG8Bardet-Biedl syndrome, Senior-Loken syndromeAR1418
SH2B1Developmental delay, intellectual disability, obesity, and dysmorphismAD115
SIM16q16 deletion syndrome, Obesity due to SIM1 deficiency, Prader-Willi-like syndromeAD/AR244
TRIM32Bardet-Biedl syndrome, Muscular dystrophy, limb-girdleAR1316
TTC8Bardet-Biedl syndrome, Retinitis pigmentosaAR516
TUBRetinal dystrophy and obesityAR12
UCP3Obesity, severe, and type II diabetesAD/AR26
VPS13BCohen syndromeAR351203
WDPCPMeckel-Gruber syndrome, modifier, Bardet-Biedl syndrome, Congenital heart defects, hamartomas of tongue, and polysyndactylyAR68
GeneAssociated phenotypesInheritanceClinVarHGMD
BMP15Premature ovarian failure 4, Ovarian dysgenesis 2XL525
CYP17A1Adrenal hyperplasia, congenital, due to 17-alpha-hydroxylase deficiencyAR35126
CYP19A1Aromatase deficiency, Aromatase excess syndromeAR1752
FOXL2Premature ovarian failure, Blepharophimosis, epicanthus inversus, and ptosisAD74215
FSHROvarian dysgenesis, Ovarian hyperstimulation syndromeAD/AR1736
GALTGalactosemiaAR238330
GNASMcCune-Albright syndrome, Progressive osseous heteroplasia, Pseudohypoparathyroidism, Albright hereditary osteodystrophyAD64274
LHCGRPrecocious puberty, male, Leydig cell hypoplasia, Luteinizing hormone resistance, femaleAR3476
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
NOBOXPremature ovarian failure 5AD515
NR5A1Adrenocortical insufficiency, Premature ovarian failure, 46,XY sex reversalAD/AR28183
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
PORDisordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency, Antley-Bixler syndromeAR1470
STAG3*Premature ovarian failure 8AR66
STARLipoid adrenal hyperplasiaAR3483
WT1Denys-Drash syndrome, Frasier syndrome, Wilms tumor, Nephrotic syndrome, type 4AD42183