TaoMedAI/RareMedData huggingface dataset:
Phenotype: Aplasia/Hypoplasia of the proximal phalanx of the 2nd finger (HP:0009580)
Associated genes and diseases:
gene_symbol: BMPR1B
disease_id: OMIM:609441
disease_name: ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE
gene_symbol: KIF15
disease_id: ORPHA:261323
disease_name: 21q22.11q22.12 microdeletion syndrome
Del(21)(q22.11q22.12)
Monosomy 21q22.11q22.12
Phenotype: Vestibular schwannoma (HP:0009588)
Associated genes and diseases:
gene_symbol: KARS1
disease_id: OMIM:613641
disease_name: CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE B
gene_symbol: PDCD10
disease_id: ORPHA:221061
disease_name: Familial cerebral cavernous malformation
Familial brain cavernous angioma
Familial cerebral cavernoma
Hereditary brain cavernous angioma
Hereditary cerebral cavernoma
Hereditary cerebral cavernous malformation
gene_symbol: PIK3CA
disease_id: ORPHA:221061
disease_name: Familial cerebral cavernous malformation
Familial brain cavernous angioma
Familial cerebral cavernoma
Hereditary brain cavernous angioma
Hereditary cerebral cavernoma
Hereditary cerebral cavernous malformation
gene_symbol: CCM2
disease_id: ORPHA:221061
disease_name: Familial cerebral cavernous malformation
Familial brain cavernous angioma
Familial cerebral cavernoma
Hereditary brain cavernous angioma
Hereditary cerebral cavernoma
Hereditary cerebral cavernous malformation
gene_symbol: KRIT1
disease_id: ORPHA:221061
disease_name: Familial cerebral cavernous malformation
Familial brain cavernous angioma
Familial cerebral cavernoma
Hereditary brain cavernous angioma
Hereditary cerebral cavernoma
Hereditary cerebral cavernous malformation
gene_symbol: SPRED1
disease_id: ORPHA:137605
disease_name: Legius syndrome
NF1-like syndrome
Neurofibromatosis 1-like syndrome
Nonmosaic LGSS
Nonmosaic Legius syndrome
gene_symbol: HRAS
disease_id: OMIM:218040
disease_name: COSTELLO SYNDROME
gene_symbol: SMARCB1
disease_id: OMIM:162091
disease_name: SCHWANNOMATOSIS 1
gene_symbol: NF2
disease_id: OMIM:101000
disease_name: NEUROFIBROMATOSIS, TYPE II
gene_symbol: COQ6
disease_id: ORPHA:93921
disease_name: Full schwannomatosis
Full NF3
Full SWN
Full neurofibromatosis type 3
Neurilemmomatosis
Nonmosaic schwannomatosis
gene_symbol: LZTR1
disease_id: ORPHA:93921
disease_name: Full schwannomatosis
Full NF3
Full SWN
Full neurofibromatosis type 3
Neurilemmomatosis
Nonmosaic schwannomatosis
Phenotype: Bilateral vestibular schwannoma (HP:0009589)
Associated genes and diseases:
gene_symbol: NF2
disease_id: ORPHA:93921
disease_name: Full schwannomatosis
Full NF3
Full SWN
Full neurofibromatosis type 3
Neurilemmomatosis
Nonmosaic schwannomatosis
gene_symbol: NF2
disease_id: ORPHA:637
disease_name: Full NF2-related schwannomatosis
Full NF2
Full neurofibromatosis type 2
Nonmosaic NF2-related schwannomatosis
Nonmosaic neurofibromatosis type 2
gene_symbol: NF2
disease_id: OMIM:101000
disease_name: NEUROFIBROMATOSIS, TYPE II
gene_symbol: SMARCB1
disease_id: ORPHA:93921
disease_name: Full schwannomatosis
Full NF3
Full SWN
Full neurofibromatosis type 3
Neurilemmomatosis
Nonmosaic schwannomatosis
gene_symbol: COQ6
disease_id: ORPHA:93921
disease_name: Full schwannomatosis
Full NF3
Full SWN
Full neurofibromatosis type 3
Neurilemmomatosis
Nonmosaic schwannomatosis
gene_symbol: LZTR1
disease_id: ORPHA:93921
disease_name: Full schwannomatosis
Full NF3
Full SWN
Full neurofibromatosis type 3
Neurilemmomatosis
Nonmosaic schwannomatosis
Phenotype: Abnormal vestibulocochlear nerve morphology (HP:0009591)
Associated genes and diseases:
gene_symbol: KARS1
disease_id: OMIM:613641
disease_name: CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE B
gene_symbol: PDCD10
disease_id: ORPHA:221061
disease_name: Familial cerebral cavernous malformation
Familial brain cavernous angioma
Familial cerebral cavernoma
Hereditary brain cavernous angioma
Hereditary cerebral cavernoma
Hereditary cerebral cavernous malformation
gene_symbol: PIK3CA
disease_id: ORPHA:221061
disease_name: Familial cerebral cavernous malformation
Familial brain cavernous angioma
Familial cerebral cavernoma
Hereditary brain cavernous angioma
Hereditary cerebral cavernoma
Hereditary cerebral cavernous malformation
gene_symbol: CCM2
disease_id: ORPHA:221061
disease_name: Familial cerebral cavernous malformation
Familial brain cavernous angioma
Familial cerebral cavernoma
Hereditary brain cavernous angioma
Hereditary cerebral cavernoma
Hereditary cerebral cavernous malformation
gene_symbol: KRIT1
disease_id: ORPHA:221061
disease_name: Familial cerebral cavernous malformation
Familial brain cavernous angioma
Familial cerebral cavernoma
Hereditary brain cavernous angioma
Hereditary cerebral cavernoma
Hereditary cerebral cavernous malformation
gene_symbol: SPRED1
disease_id: ORPHA:137605
disease_name: Legius syndrome
NF1-like syndrome
Neurofibromatosis 1-like syndrome
Nonmosaic LGSS
Nonmosaic Legius syndrome
gene_symbol: HRAS
disease_id: OMIM:218040
disease_name: COSTELLO SYNDROME
gene_symbol: SMARCB1
disease_id: OMIM:162091
disease_name: SCHWANNOMATOSIS 1
gene_symbol: NF2
disease_id: OMIM:101000
disease_name: NEUROFIBROMATOSIS, TYPE II
gene_symbol: COQ6
disease_id: ORPHA:93921
disease_name: Full schwannomatosis
Full NF3
Full SWN
Full neurofibromatosis type 3
Neurilemmomatosis
Nonmosaic schwannomatosis
gene_symbol: LZTR1
disease_id: ORPHA:93921
disease_name: Full schwannomatosis
Full NF3
Full SWN
Full neurofibromatosis type 3
Neurilemmomatosis
Nonmosaic schwannomatosis
gene_symbol: DKK1
disease_id: ORPHA:268882
disease_name: Arnold-Chiari malformation type I
Arnold-Chiari malformation type 1
Chiari malformation type 1
Chiari malformation type I
gene_symbol: COCH
disease_id: OMIM:601369
disease_name: DEAFNESS, AUTOSOMAL DOMINANT 9
Phenotype: Unilateral vestibular schwannoma (HP:0009590)
Associated genes and diseases:
gene_symbol: NF2
disease_id: OMIM:101000
disease_name: NEUROFIBROMATOSIS, TYPE II
Phenotype: Peripheral schwannoma (HP:0009593)
Associated genes and diseases:
gene_symbol: NF2
disease_id: ORPHA:93921
disease_name: Full schwannomatosis
Full NF3
Full SWN
Full neurofibromatosis type 3
Neurilemmomatosis
Nonmosaic schwannomatosis
gene_symbol: NF2
disease_id: ORPHA:637
disease_name: Full NF2-related schwannomatosis
Full NF2
Full neurofibromatosis type 2
Nonmosaic NF2-related schwannomatosis
Nonmosaic neurofibromatosis type 2
gene_symbol: NF2
disease_id: OMIM:101000
disease_name: NEUROFIBROMATOSIS, TYPE II
gene_symbol: SMARCB1
disease_id: ORPHA:93921
disease_name: Full schwannomatosis
Full NF3
Full SWN
Full neurofibromatosis type 3
Neurilemmomatosis
Nonmosaic schwannomatosis
gene_symbol: SMARCB1
disease_id: OMIM:162091
disease_name: SCHWANNOMATOSIS 1
gene_symbol: COQ6
disease_id: ORPHA:93921
disease_name: Full schwannomatosis
Full NF3
Full SWN
Full neurofibromatosis type 3
Neurilemmomatosis
Nonmosaic schwannomatosis
gene_symbol: LZTR1
disease_id: ORPHA:93921
disease_name: Full schwannomatosis
Full NF3
Full SWN
Full neurofibromatosis type 3
Neurilemmomatosis
Nonmosaic schwannomatosis
Phenotype: Aplasia of the proximal phalanx of the 2nd finger (HP:0009596)
Associated genes and diseases:
gene_symbol: BMPR1B
disease_id: OMIM:609441
disease_name: ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE
Phenotype: Abnormal circulating IgD concentration (HP:0410244)
Associated genes and diseases:
gene_symbol: MVK
disease_id: OMIM:260920
disease_name: HYPER-IgD SYNDROME
gene_symbol: MVK
disease_id: OMIM:610377
disease_name: MEVALONIC ACIDURIA
Phenotype: Increased circulating IgD concentration (HP:0410246)
Associated genes and diseases:
gene_symbol: MVK
disease_id: OMIM:260920
disease_name: HYPER-IgD SYNDROME
gene_symbol: MVK
disease_id: OMIM:610377
disease_name: MEVALONIC ACIDURIA
Phenotype: Persistently decreased total neutrophil count (HP:0410252)
Associated genes and diseases:
gene_symbol: CXCR2
disease_id: OMIM:619407
disease_name: WHIM SYNDROME 2
gene_symbol: LRBA
disease_id: OMIM:614700
disease_name: IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY
gene_symbol: PPIL1
disease_id: OMIM:619301
disease_name: PONTOCEREBELLAR HYPOPLASIA, TYPE 14
gene_symbol: CDC40
disease_id: OMIM:619302
disease_name: PONTOCEREBELLAR HYPOPLASIA, TYPE 15
gene_symbol: FIBP
disease_id: ORPHA:500095
disease_name: Tall stature-intellectual disability-renal anomalies syndrome
Thauvin-Robinet-Faivre syndrome
gene_symbol: DNAJC21
disease_id: ORPHA:811
disease_name: Shwachman-Diamond syndrome
Pancreatic insufficiency and bone marrow dysfunction
SDS
Shwachman syndrome
Shwachman-Bodian-Diamond syndrome
gene_symbol: EFL1
disease_id: ORPHA:811
disease_name: Shwachman-Diamond syndrome
Pancreatic insufficiency and bone marrow dysfunction
SDS
Shwachman syndrome
Shwachman-Bodian-Diamond syndrome
gene_symbol: SBDS
disease_id: ORPHA:811
disease_name: Shwachman-Diamond syndrome
Pancreatic insufficiency and bone marrow dysfunction
SDS
Shwachman syndrome
Shwachman-Bodian-Diamond syndrome
gene_symbol: SLC37A4
disease_id: ORPHA:79259
disease_name: Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib
G6P deficiency type Ib
G6P translocase deficiency
G6PT deficiency
GSD due to G6P deficiency type 1b
GSD due to G6P deficiency type Ib
GSD due to G6PT deficiency
GSD type 1 non a
GSD type 1b
GSD type Ib
GSDIb
Glycogen storage disease due to G6P deficiency type Ib
Glycogen storage disease type 1b
Glycogen storage disease type Ib
Glycogenosis due to glucose-6-phosphatase deficiency type 1b
Glycogenosis due to glucose-6-phosphatase transport defect type Ib
Glycogenosis type 1b
Glycogenosis type Ib
Phenotype: Myeloid maturation arrest (HP:0410253)
Associated genes and diseases:
gene_symbol: CLPB
disease_id: OMIM:619813
disease_name: NEUTROPENIA, SEVERE CONGENITAL, 9, AUTOSOMAL DOMINANT
Phenotype: Transiently decreased total neutrophil count (HP:0410255)
Associated genes and diseases:
gene_symbol: FIBP
disease_id: OMIM:617107
disease_name: THAUVIN-ROBINET-FAIVRE SYNDROME
gene_symbol: FIBP
disease_id: ORPHA:500095
disease_name: Tall stature-intellectual disability-renal anomalies syndrome
Thauvin-Robinet-Faivre syndrome
gene_symbol: SPI1
disease_id: OMIM:619707
disease_name: AGAMMAGLOBULINEMIA 10, AUTOSOMAL DOMINANT
gene_symbol: IRAK4
disease_id: OMIM:607676
disease_name: IMMUNODEFICIENCY 67
gene_symbol: DNAJC21
disease_id: ORPHA:811
disease_name: Shwachman-Diamond syndrome
Pancreatic insufficiency and bone marrow dysfunction
SDS
Shwachman syndrome
Shwachman-Bodian-Diamond syndrome
gene_symbol: EFL1
disease_id: ORPHA:811
disease_name: Shwachman-Diamond syndrome
Pancreatic insufficiency and bone marrow dysfunction
SDS
Shwachman syndrome
Shwachman-Bodian-Diamond syndrome
gene_symbol: SBDS
disease_id: ORPHA:811
disease_name: Shwachman-Diamond syndrome
Pancreatic insufficiency and bone marrow dysfunction
SDS
Shwachman syndrome
Shwachman-Bodian-Diamond syndrome
gene_symbol: CLPB
disease_id: ORPHA:445038
disease_name: 3-methylglutaconic aciduria-neonatal cataract-neurologic involvement-congenital neutropenia syndrome
3-methylglutaconic aciduria type 7
MGA-neonatal cataract-neurologic involvement-congenital neutropenia syndrome
MGA7
Phenotype: Infection associated neutropenia (HP:0410256)
Associated genes and diseases:
gene_symbol: CLPB
disease_id: ORPHA:445038
disease_name: 3-methylglutaconic aciduria-neonatal cataract-neurologic involvement-congenital neutropenia syndrome
3-methylglutaconic aciduria type 7
MGA-neonatal cataract-neurologic involvement-congenital neutropenia syndrome
MGA7
Phenotype: Hepatopulmonary fusion (HP:0410259)
Associated genes and diseases:
gene_symbol: MYRF
disease_id: OMIM:618280
disease_name: CARDIAC-UROGENITAL SYNDROME
Phenotype: Elevated circulating apolipoprotein A-II concentration (HP:0031800)
Associated genes and diseases:
gene_symbol: ABCA1
disease_id: OMIM:205400
disease_name: TANGIER DISEASE
gene_symbol: LPL
disease_id: OMIM:144250
disease_name: HYPERLIPIDEMIA, FAMILIAL COMBINED, 3
Phenotype: Abnormal total basophil count (HP:0031806)
Associated genes and diseases:
gene_symbol: ASXL1
disease_id: ORPHA:98849
disease_name: Systemic mastocytosis with associated hematologic neoplasm
SM-AHN
SM-AHNMD
Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease
gene_symbol: TET2
disease_id: ORPHA:98849
disease_name: Systemic mastocytosis with associated hematologic neoplasm
SM-AHN
SM-AHNMD
Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease
gene_symbol: KIT
disease_id: ORPHA:98849
disease_name: Systemic mastocytosis with associated hematologic neoplasm
SM-AHN
SM-AHNMD
Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease
gene_symbol: SRSF2
disease_id: ORPHA:98849
disease_name: Systemic mastocytosis with associated hematologic neoplasm
SM-AHN
SM-AHNMD
Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease
gene_symbol: BACH2
disease_id: OMIM:618394
disease_name: IMMUNODEFICIENCY 60
Phenotype: Lower cranial nerve dysfunction (HP:0410262)
Associated genes and diseases:
gene_symbol: TFG
disease_id: ORPHA:90117
disease_name: Hereditary motor and sensory neuropathy, Okinawa type
HMSNP
Hereditary motor and sensory neuropathy, proximal type
Phenotype: Visceral hemangioma (HP:0410266)
Associated genes and diseases:
gene_symbol: EP300
disease_id: OMIM:180849
disease_name: RUBINSTEIN-TAYBI SYNDROME 1
gene_symbol: CREBBP
disease_id: OMIM:180849
disease_name: RUBINSTEIN-TAYBI SYNDROME 1
gene_symbol: CCND1
disease_id: OMIM:193300
disease_name: VON HIPPEL-LINDAU SYNDROME
gene_symbol: VHL
disease_id: OMIM:193300
disease_name: VON HIPPEL-LINDAU SYNDROME
Phenotype: Increased total basophil count (HP:0031807)
Associated genes and diseases:
gene_symbol: ASXL1
disease_id: ORPHA:98849
disease_name: Systemic mastocytosis with associated hematologic neoplasm
SM-AHN
SM-AHNMD
Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease
gene_symbol: TET2
disease_id: ORPHA:98849
disease_name: Systemic mastocytosis with associated hematologic neoplasm
SM-AHN
SM-AHNMD
Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease
gene_symbol: KIT
disease_id: ORPHA:98849
disease_name: Systemic mastocytosis with associated hematologic neoplasm
SM-AHN
SM-AHNMD
Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease
gene_symbol: SRSF2
disease_id: ORPHA:98849
disease_name: Systemic mastocytosis with associated hematologic neoplasm
SM-AHN
SM-AHNMD
Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease
Phenotype: Decreased total basophil count (HP:0031808)
Associated genes and diseases:
gene_symbol: BACH2
disease_id: OMIM:618394
disease_name: IMMUNODEFICIENCY 60
Phenotype: Bilirubinuria (HP:0031811)
Associated genes and diseases:
gene_symbol: SLCO1B3
disease_id: ORPHA:3111
disease_name: Rotor syndrome
Hyperbilirubinemia, Rotor type
gene_symbol: SLCO1B1
disease_id: ORPHA:3111
disease_name: Rotor syndrome
Hyperbilirubinemia, Rotor type
Phenotype: Colonic eosinophilia (HP:0031813)
Associated genes and diseases:
gene_symbol: CARD11
disease_id: OMIM:617638
disease_name: IMMUNODEFICIENCY 11B WITH ATOPIC DERMATITIS
gene_symbol: JAK1
disease_id: OMIM:618999
disease_name: AUTOINFLAMMATION, IMMUNE DYSREGULATION, AND EOSINOPHILIA
gene_symbol: ARPC1B
disease_id: OMIM:617718
disease_name: IMMUNODEFICIENCY 71 WITH INFLAMMATORY DISEASE AND CONGENITAL THROMBOCYTOPENIA
Phenotype: Palilalia (HP:0031814)
Associated genes and diseases:
gene_symbol: MAPT
disease_id: ORPHA:240094
disease_name: Progressive supranuclear palsy-pure akinesia with gait freezing syndrome
PSP-PAGF
PSP-pure akinesia with gait freezing
gene_symbol: XPR1
disease_id: OMIM:616413
disease_name: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 6
gene_symbol: PANK2
disease_id: OMIM:234200
disease_name: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1
Phenotype: Lumbosacral hemangioma (HP:0410275)
Associated genes and diseases:
gene_symbol: NF2
disease_id: ORPHA:93921
disease_name: Full schwannomatosis
Full NF3
Full SWN
Full neurofibromatosis type 3
Neurilemmomatosis
Nonmosaic schwannomatosis
gene_symbol: SMARCB1
disease_id: ORPHA:93921
disease_name: Full schwannomatosis
Full NF3
Full SWN
Full neurofibromatosis type 3
Neurilemmomatosis
Nonmosaic schwannomatosis
gene_symbol: COQ6
disease_id: ORPHA:93921
disease_name: Full schwannomatosis
Full NF3
Full SWN
Full neurofibromatosis type 3
Neurilemmomatosis
Nonmosaic schwannomatosis
gene_symbol: LZTR1
disease_id: ORPHA:93921
disease_name: Full schwannomatosis
Full NF3
Full SWN
Full neurofibromatosis type 3
Neurilemmomatosis
Nonmosaic schwannomatosis
Phenotype: Supraumbilical raphe (HP:0410276)
Associated genes and diseases:
gene_symbol: ELMO2
disease_id: OMIM:606893
disease_name: VASCULAR MALFORMATION, PRIMARY INTRAOSSEOUS
Phenotype: Atrophic pituitary gland (HP:0410279)
Associated genes and diseases:
gene_symbol: NDE1
disease_id: ORPHA:2177
disease_name: Hydranencephaly
Phenotype: Decreased circulating parathyroid hormone level (HP:0031817)
Associated genes and diseases:
gene_symbol: CASR
disease_id: OMIM:601198
disease_name: HYPOCALCEMIA, AUTOSOMAL DOMINANT 1
gene_symbol: PTH
disease_id: OMIM:146200
disease_name: HYPOPARATHYROIDISM, FAMILIAL ISOLATED, 1
gene_symbol: CYP24A1
disease_id: OMIM:143880
disease_name: HYPERCALCEMIA, INFANTILE, 1
gene_symbol: TBX1
disease_id: OMIM:188400
disease_name: DIGEORGE SYNDROME
gene_symbol: SAMD9
disease_id: OMIM:610455
disease_name: TUMORAL CALCINOSIS, NORMOPHOSPHATEMIC, FAMILIAL
gene_symbol: GCM2
disease_id: OMIM:618883
disease_name: HYPOPARATHYROIDISM, FAMILIAL ISOLATED, 2
gene_symbol: SLC34A3
disease_id: ORPHA:157215
disease_name: Hereditary hypophosphatemic rickets with hypercalciuria
HHRH
gene_symbol: SLC34A3
disease_id: OMIM:241530
disease_name: HYPOPHOSPHATEMIC RICKETS WITH HYPERCALCIURIA, HEREDITARY
gene_symbol: SLC34A1
disease_id: ORPHA:157215
disease_name: Hereditary hypophosphatemic rickets with hypercalciuria
HHRH
gene_symbol: AIRE
disease_id: OMIM:240300
disease_name: AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA
gene_symbol: TBCE
disease_id: OMIM:241410
disease_name: HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME
Phenotype: Abnormal waist to hip ratio (HP:0031818)
Associated genes and diseases:
gene_symbol: TCF7L2
disease_id: OMIM:125853
disease_name: TYPE 2 DIABETES MELLITUS
gene_symbol: PAX4
disease_id: OMIM:125853
disease_name: TYPE 2 DIABETES MELLITUS
gene_symbol: HNF4A
disease_id: OMIM:125853
disease_name: TYPE 2 DIABETES MELLITUS
gene_symbol: IL6
disease_id: OMIM:125853
disease_name: TYPE 2 DIABETES MELLITUS
gene_symbol: LIPC
disease_id: OMIM:125853
disease_name: TYPE 2 DIABETES MELLITUS
gene_symbol: HNF1A
disease_id: OMIM:125853
disease_name: TYPE 2 DIABETES MELLITUS
gene_symbol: NEUROD1
disease_id: OMIM:125853
disease_name: TYPE 2 DIABETES MELLITUS
gene_symbol: PPP1R3A
disease_id: OMIM:125853
disease_name: TYPE 2 DIABETES MELLITUS
gene_symbol: SLC30A8
disease_id: OMIM:125853
disease_name: TYPE 2 DIABETES MELLITUS
gene_symbol: GPD2
disease_id: OMIM:125853
disease_name: TYPE 2 DIABETES MELLITUS
gene_symbol: KCNJ11
disease_id: OMIM:125853
disease_name: TYPE 2 DIABETES MELLITUS
gene_symbol: HNF1B
disease_id: OMIM:125853
disease_name: TYPE 2 DIABETES MELLITUS
gene_symbol: SLC2A2
disease_id: OMIM:125853
disease_name: TYPE 2 DIABETES MELLITUS
gene_symbol: PPARG
disease_id: OMIM:125853
disease_name: TYPE 2 DIABETES MELLITUS
gene_symbol: PPARG
disease_id: OMIM:601665
disease_name: OBESITY
gene_symbol: ENPP1
disease_id: OMIM:125853
disease_name: TYPE 2 DIABETES MELLITUS
gene_symbol: ENPP1
disease_id: OMIM:601665
disease_name: OBESITY
gene_symbol: PTPN1
disease_id: OMIM:125853
disease_name: TYPE 2 DIABETES MELLITUS
gene_symbol: IRS2
disease_id: OMIM:125853
disease_name: TYPE 2 DIABETES MELLITUS
gene_symbol: HMGA1
disease_id: OMIM:125853
disease_name: TYPE 2 DIABETES MELLITUS
gene_symbol: ABCC8
disease_id: OMIM:125853
disease_name: TYPE 2 DIABETES MELLITUS
gene_symbol: IRS1
disease_id: OMIM:125853
disease_name: TYPE 2 DIABETES MELLITUS
gene_symbol: MAPK8IP1
disease_id: OMIM:125853
disease_name: TYPE 2 DIABETES MELLITUS
gene_symbol: AKT2
disease_id: OMIM:125853
disease_name: TYPE 2 DIABETES MELLITUS
gene_symbol: MTNR1B
disease_id: OMIM:125853
disease_name: TYPE 2 DIABETES MELLITUS
gene_symbol: RETN
disease_id: OMIM:125853
disease_name: TYPE 2 DIABETES MELLITUS
gene_symbol: WFS1
disease_id: OMIM:125853
disease_name: TYPE 2 DIABETES MELLITUS
gene_symbol: PDX1
disease_id: OMIM:125853
disease_name: TYPE 2 DIABETES MELLITUS
gene_symbol: GCK
disease_id: OMIM:125853
disease_name: TYPE 2 DIABETES MELLITUS
gene_symbol: IGF2BP2
disease_id: OMIM:125853
disease_name: TYPE 2 DIABETES MELLITUS
gene_symbol: ADRB3
disease_id: OMIM:601665
disease_name: OBESITY
gene_symbol: UCP3
disease_id: OMIM:601665
disease_name: OBESITY
gene_symbol: POMC
disease_id: OMIM:601665
disease_name: OBESITY
gene_symbol: NR0B2
disease_id: OMIM:601665
disease_name: OBESITY
gene_symbol: CARTPT
disease_id: OMIM:601665
disease_name: OBESITY
gene_symbol: GHRL
disease_id: OMIM:601665
disease_name: OBESITY
gene_symbol: SDC3
disease_id: OMIM:601665
disease_name: OBESITY
gene_symbol: AGRP
disease_id: OMIM:601665
disease_name: OBESITY
Phenotype: Increased waist to hip ratio (HP:0031819)
Associated genes and diseases:
gene_symbol: TCF7L2
disease_id: OMIM:125853
disease_name: TYPE 2 DIABETES MELLITUS
gene_symbol: PAX4
disease_id: OMIM:125853
disease_name: TYPE 2 DIABETES MELLITUS
gene_symbol: HNF4A
disease_id: OMIM:125853
disease_name: TYPE 2 DIABETES MELLITUS
gene_symbol: IL6
disease_id: OMIM:125853
disease_name: TYPE 2 DIABETES MELLITUS
gene_symbol: LIPC
disease_id: OMIM:125853
disease_name: TYPE 2 DIABETES MELLITUS
gene_symbol: HNF1A
disease_id: OMIM:125853
disease_name: TYPE 2 DIABETES MELLITUS
gene_symbol: NEUROD1
disease_id: OMIM:125853
disease_name: TYPE 2 DIABETES MELLITUS
gene_symbol: PPP1R3A
disease_id: OMIM:125853
disease_name: TYPE 2 DIABETES MELLITUS
gene_symbol: SLC30A8
disease_id: OMIM:125853
disease_name: TYPE 2 DIABETES MELLITUS
gene_symbol: GPD2
disease_id: OMIM:125853
disease_name: TYPE 2 DIABETES MELLITUS
gene_symbol: KCNJ11
disease_id: OMIM:125853
disease_name: TYPE 2 DIABETES MELLITUS
gene_symbol: HNF1B
disease_id: OMIM:125853
disease_name: TYPE 2 DIABETES MELLITUS
gene_symbol: SLC2A2
disease_id: OMIM:125853
disease_name: TYPE 2 DIABETES MELLITUS
gene_symbol: PPARG
disease_id: OMIM:125853
disease_name: TYPE 2 DIABETES MELLITUS
gene_symbol: PPARG
disease_id: OMIM:601665
disease_name: OBESITY
gene_symbol: ENPP1
disease_id: OMIM:125853
disease_name: TYPE 2 DIABETES MELLITUS
gene_symbol: ENPP1
disease_id: OMIM:601665
disease_name: OBESITY
gene_symbol: PTPN1
disease_id: OMIM:125853
disease_name: TYPE 2 DIABETES MELLITUS
gene_symbol: IRS2
disease_id: OMIM:125853
disease_name: TYPE 2 DIABETES MELLITUS
gene_symbol: HMGA1
disease_id: OMIM:125853
disease_name: TYPE 2 DIABETES MELLITUS
gene_symbol: ABCC8
disease_id: OMIM:125853
disease_name: TYPE 2 DIABETES MELLITUS
gene_symbol: IRS1
disease_id: OMIM:125853
disease_name: TYPE 2 DIABETES MELLITUS
gene_symbol: MAPK8IP1
disease_id: OMIM:125853
disease_name: TYPE 2 DIABETES MELLITUS
gene_symbol: AKT2
disease_id: OMIM:125853
disease_name: TYPE 2 DIABETES MELLITUS
gene_symbol: MTNR1B
disease_id: OMIM:125853
disease_name: TYPE 2 DIABETES MELLITUS
gene_symbol: RETN
disease_id: OMIM:125853
disease_name: TYPE 2 DIABETES MELLITUS
gene_symbol: WFS1
disease_id: OMIM:125853
disease_name: TYPE 2 DIABETES MELLITUS
gene_symbol: PDX1
disease_id: OMIM:125853
disease_name: TYPE 2 DIABETES MELLITUS
gene_symbol: GCK
disease_id: OMIM:125853
disease_name: TYPE 2 DIABETES MELLITUS
gene_symbol: IGF2BP2
disease_id: OMIM:125853
disease_name: TYPE 2 DIABETES MELLITUS
gene_symbol: ADRB3
disease_id: OMIM:601665
disease_name: OBESITY
gene_symbol: UCP3
disease_id: OMIM:601665
disease_name: OBESITY
gene_symbol: POMC
disease_id: OMIM:601665
disease_name: OBESITY
gene_symbol: NR0B2
disease_id: OMIM:601665
disease_name: OBESITY
gene_symbol: CARTPT
disease_id: OMIM:601665
disease_name: OBESITY
gene_symbol: GHRL
disease_id: OMIM:601665
disease_name: OBESITY
gene_symbol: SDC3
disease_id: OMIM:601665
disease_name: OBESITY
gene_symbol: AGRP
disease_id: OMIM:601665
disease_name: OBESITY