Phenotype: Hyperglycemia (HP:0003074)
Associated genes and diseases:
gene_symbol: HNF1A
disease_id: OMIM:600496
disease_name: MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3
gene_symbol: HNF1A
disease_id: ORPHA:552
disease_name: MODY
Maturity-onset diabetes of the young
gene_symbol: HNF1A
disease_id: OMIM:222100
disease_name: TYPE 1 DIABETES MELLITUS
gene_symbol: KCNJ11
disease_id: ORPHA:552
disease_name: MODY
Maturity-onset diabetes of the young
gene_symbol: KCNJ11
disease_id: OMIM:610582
disease_name: DIABETES MELLITUS, TRANSIENT NEONATAL, 3
gene_symbol: KCNJ11
disease_id: OMIM:616329
disease_name: MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 13
gene_symbol: KCNJ11
disease_id: ORPHA:79134
disease_name: DEND syndrome
Developmental delay-epilepsy-neonatal diabetes syndrome
gene_symbol: KCNJ11
disease_id: ORPHA:99885
disease_name: Isolated permanent neonatal diabetes mellitus
Isolated PNDM
Monogenic diabetes of infancy
gene_symbol: KCNJ11
disease_id: ORPHA:99886
disease_name: Transient neonatal diabetes mellitus
TNDM
gene_symbol: KCNJ11
disease_id: OMIM:618856
disease_name: DIABETES MELLITUS, PERMANENT NEONATAL, 2
gene_symbol: KLF11
disease_id: ORPHA:552
disease_name: MODY
Maturity-onset diabetes of the young
gene_symbol: GCK
disease_id: ORPHA:552
disease_name: MODY
Maturity-onset diabetes of the young
gene_symbol: GCK
disease_id: ORPHA:99885
disease_name: Isolated permanent neonatal diabetes mellitus
Isolated PNDM
Monogenic diabetes of infancy
gene_symbol: GCK
disease_id: OMIM:606176
disease_name: DIABETES MELLITUS, PERMANENT NEONATAL, 1
gene_symbol: APPL1
disease_id: ORPHA:552
disease_name: MODY
Maturity-onset diabetes of the young
gene_symbol: BLK
disease_id: ORPHA:552
disease_name: MODY
Maturity-onset diabetes of the young
gene_symbol: CEL
disease_id: ORPHA:552
disease_name: MODY
Maturity-onset diabetes of the young
gene_symbol: CEL
disease_id: OMIM:609812
disease_name: MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 8, WITH EXOCRINE DYSFUNCTION
gene_symbol: NEUROD1
disease_id: ORPHA:552
disease_name: MODY
Maturity-onset diabetes of the young
gene_symbol: PDX1
disease_id: ORPHA:552
disease_name: MODY
Maturity-onset diabetes of the young
gene_symbol: PDX1
disease_id: ORPHA:99885
disease_name: Isolated permanent neonatal diabetes mellitus
Isolated PNDM
Monogenic diabetes of infancy
gene_symbol: ABCC8
disease_id: ORPHA:552
disease_name: MODY
Maturity-onset diabetes of the young
gene_symbol: ABCC8
disease_id: ORPHA:79134
disease_name: DEND syndrome
Developmental delay-epilepsy-neonatal diabetes syndrome
gene_symbol: ABCC8
disease_id: ORPHA:99885
disease_name: Isolated permanent neonatal diabetes mellitus
Isolated PNDM
Monogenic diabetes of infancy
gene_symbol: ABCC8
disease_id: ORPHA:99886
disease_name: Transient neonatal diabetes mellitus
TNDM
gene_symbol: ABCC8
disease_id: OMIM:618857
disease_name: DIABETES MELLITUS, PERMANENT NEONATAL, 3
gene_symbol: PAX4
disease_id: ORPHA:552
disease_name: MODY
Maturity-onset diabetes of the young
gene_symbol: PAX4
disease_id: OMIM:612225
disease_name: MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 9
gene_symbol: HNF4A
disease_id: ORPHA:552
disease_name: MODY
Maturity-onset diabetes of the young
gene_symbol: INS
disease_id: ORPHA:552
disease_name: MODY
Maturity-onset diabetes of the young
gene_symbol: INS
disease_id: OMIM:613370
disease_name: MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10
gene_symbol: INS
disease_id: OMIM:616214
disease_name: HYPERPROINSULINEMIA
gene_symbol: INS
disease_id: ORPHA:99885
disease_name: Isolated permanent neonatal diabetes mellitus
Isolated PNDM
Monogenic diabetes of infancy
gene_symbol: INS
disease_id: OMIM:618858
disease_name: DIABETES MELLITUS, PERMANENT NEONATAL, 4
gene_symbol: LRPPRC
disease_id: OMIM:220111
disease_name: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 5
gene_symbol: INSR
disease_id: OMIM:262190
disease_name: PINEAL HYPERPLASIA, INSULIN-RESISTANT DIABETES MELLITUS, AND SOMATIC ABNORMALITIES
gene_symbol: INSR
disease_id: OMIM:246200
disease_name: DONOHUE SYNDROME
gene_symbol: ZMPSTE24
disease_id: OMIM:608612
disease_name: MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY
gene_symbol: GLI3
disease_id: OMIM:175700
disease_name: GREIG CEPHALOPOLYSYNDACTYLY SYNDROME
gene_symbol: RFX6
disease_id: OMIM:615710
disease_name: MITCHELL-RILEY SYNDROME
gene_symbol: KHK
disease_id: ORPHA:2056
disease_name: Essential fructosuria
Fructokinase deficiency
Ketohexokinase deficiency
gene_symbol: GCSH
disease_id: OMIM:620423
disease_name: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 7
gene_symbol: ARMC5
disease_id: OMIM:615954
disease_name: ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA 2
gene_symbol: PTF1A
disease_id: OMIM:609069
disease_name: PANCREATIC AND CEREBELLAR AGENESIS
gene_symbol: GATA6
disease_id: OMIM:600001
disease_name: HEART DEFECTS, CONGENITAL, AND OTHER CONGENITAL ANOMALIES
gene_symbol: HYMAI
disease_id: OMIM:601410
disease_name: DIABETES MELLITUS, TRANSIENT NEONATAL, 1
gene_symbol: HYMAI
disease_id: ORPHA:99886
disease_name: Transient neonatal diabetes mellitus
TNDM
gene_symbol: PLAGL1
disease_id: OMIM:601410
disease_name: DIABETES MELLITUS, TRANSIENT NEONATAL, 1
gene_symbol: PLAGL1
disease_id: ORPHA:99886
disease_name: Transient neonatal diabetes mellitus
TNDM
gene_symbol: ZFP57
disease_id: OMIM:601410
disease_name: DIABETES MELLITUS, TRANSIENT NEONATAL, 1
gene_symbol: ZFP57
disease_id: ORPHA:99886
disease_name: Transient neonatal diabetes mellitus
TNDM
gene_symbol: AFF4
disease_id: ORPHA:444077
disease_name: Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome
CHOPS syndrome
gene_symbol: PPARG
disease_id: OMIM:604367
disease_name: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3
gene_symbol: SH2B1
disease_id: ORPHA:329249
disease_name: Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency
gene_symbol: ENPP1
disease_id: OMIM:615522
disease_name: COLE DISEASE
gene_symbol: ADRA2A
disease_id: OMIM:620679
disease_name: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 8
gene_symbol: LMNA
disease_id: OMIM:248370
disease_name: MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY
gene_symbol: LMNA
disease_id: OMIM:151660
disease_name: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2
gene_symbol: LMNA
disease_id: ORPHA:79474
disease_name: Atypical Werner syndrome
Atypical progeroid syndrome
gene_symbol: WRN
disease_id: OMIM:277700
disease_name: WERNER SYNDROME
gene_symbol: TFG
disease_id: OMIM:604484
disease_name: NEUROPATHY, HEREDITARY MOTOR AND SENSORY, OKINAWA TYPE
gene_symbol: NARS2
disease_id: ORPHA:79134
disease_name: DEND syndrome
Developmental delay-epilepsy-neonatal diabetes syndrome
gene_symbol: STAT3
disease_id: ORPHA:99885
disease_name: Isolated permanent neonatal diabetes mellitus
Isolated PNDM
Monogenic diabetes of infancy
gene_symbol: BCS1L
disease_id: OMIM:124000
disease_name: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1
gene_symbol: ACAT1
disease_id: ORPHA:134
disease_name: Beta-ketothiolase deficiency
3-ketothiolase deficiency
3-oxothiolase deficiency
Alpha methylacetoacetic aciduria
Alpha-methyl-acetoacetyl-CoA thiolase deficiency
Mitochondrial acetoacetyl-coenzyme A thiolase deficiency
T2 deficiency
gene_symbol: PIK3R1
disease_id: OMIM:269880
disease_name: SHORT SYNDROME
gene_symbol: SLC5A2
disease_id: ORPHA:69076
disease_name: Familial renal glucosuria
Familial renal glycosuria
SGLT2 deficiency
gene_symbol: CYC1
disease_id: OMIM:615453
disease_name: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6
gene_symbol: PRORP
disease_id: OMIM:619737
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 54
gene_symbol: DYRK1B
disease_id: OMIM:615812
disease_name: ABDOMINAL OBESITY-METABOLIC SYNDROME 3
gene_symbol: BMP6
disease_id: ORPHA:465508
disease_name: Symptomatic form of HFE-related hemochromatosis
Symptomatic form of classic hemochromatosis
Symptomatic form of hemochromatosis type 1
gene_symbol: HFE
disease_id: ORPHA:465508
disease_name: Symptomatic form of HFE-related hemochromatosis
Symptomatic form of classic hemochromatosis
Symptomatic form of hemochromatosis type 1
gene_symbol: ALMS1
disease_id: OMIM:203800
disease_name: ALSTROM SYNDROME
gene_symbol: PLAAT3
disease_id: OMIM:620683
disease_name: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 9
gene_symbol: PCYT1A
disease_id: OMIM:620680
disease_name: LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 5
gene_symbol: RIMS2
disease_id: OMIM:618970
disease_name: CONE-ROD SYNAPTIC DISORDER SYNDROME, CONGENITAL NONPROGRESSIVE
gene_symbol: PTPN22
disease_id: OMIM:222100
disease_name: TYPE 1 DIABETES MELLITUS
gene_symbol: IL6
disease_id: OMIM:222100
disease_name: TYPE 1 DIABETES MELLITUS
gene_symbol: BBS9
disease_id: OMIM:615986
disease_name: BARDET-BIEDL SYNDROME 9
gene_symbol: GYS2
disease_id: ORPHA:2089
disease_name: Glycogen storage disease due to hepatic glycogen synthase deficiency
GSD due to hepatic glycogen synthase deficiency
GSD type 0a
Glycogen storage disease due to liver glycogen synthase deficiency
Glycogen storage disease type 0a
Glycogenosis type 0a
gene_symbol: GYS2
disease_id: OMIM:240600
disease_name: GLYCOGEN STORAGE DISEASE 0, LIVER
gene_symbol: SLC2A2
disease_id: ORPHA:2088
disease_name: Fanconi-Bickel syndrome
GSD due to GLUT2 deficiency
Glycogen storage disease due to GLUT2 deficiency
Glycogenosis due to GLUT2 deficiency
gene_symbol: SLC2A2
disease_id: OMIM:227810
disease_name: FANCONI-BICKEL SYNDROME
gene_symbol: SCN4A
disease_id: ORPHA:681
disease_name: Hypokalemic periodic paralysis
Westphall disease
gene_symbol: CACNA1S
disease_id: ORPHA:681
disease_name: Hypokalemic periodic paralysis
Westphall disease
gene_symbol: CACNA1S
disease_id: ORPHA:79102
disease_name: Thyrotoxic periodic paralysis
Thyrotoxic hypokalemic periodic paralysis
gene_symbol: KCNE3
disease_id: ORPHA:681
disease_name: Hypokalemic periodic paralysis
Westphall disease
gene_symbol: SHPK
disease_id: ORPHA:440713
disease_name: Isolated sedoheptulokinase deficiency
Isolated SHPK deficiency
gene_symbol: KCNJ18
disease_id: ORPHA:79102
disease_name: Thyrotoxic periodic paralysis
Thyrotoxic hypokalemic periodic paralysis
gene_symbol: GABRA3
disease_id: ORPHA:79102
disease_name: Thyrotoxic periodic paralysis
Thyrotoxic hypokalemic periodic paralysis
gene_symbol: BBIP1
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: CEP290
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: IFT27
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: BBS1
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: SCAPER
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: NPHP1
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: WDPCP
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: SCLT1
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: CEP19
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: TRIM32
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: MKS1
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: BBS10
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: TTC8
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: IFT172
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: BBS2
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: BBS4
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: MKKS
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: LZTFL1
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: BBS7
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: BBS12
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: SDCCAG8
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: CFAP418
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: ARL6
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: BBS5
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: IFT74
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS