Source: HPO

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3815
Gene Symbol: KIT
KIT
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors 		1.000 Biomarker HPO

Entrez Id: 6329
Gene Symbol: SCN4A
SCN4A
CUI: C0238357
Disease: Hyperkalemic periodic paralysis
Hyperkalemic periodic paralysis 		1.000 Biomarker HPO

Entrez Id: 175
Gene Symbol: AGA
AGA
CUI: C0268225
Disease: Aspartylglucosaminuria
Aspartylglucosaminuria 		1.000 Biomarker HPO

Entrez Id: 249
Gene Symbol: ALPL
ALPL
CUI: C0268412
Disease: Infantile hypophosphatasia
Infantile hypophosphatasia 		1.000 Biomarker HPO

Entrez Id: 29914
Gene Symbol: UBIAD1
UBIAD1
CUI: C0271287
Disease: Schnyder crystalline corneal dystrophy
Schnyder crystalline corneal dystrophy 		1.000 Biomarker HPO

Entrez Id: 462
Gene Symbol: SERPINC1
SERPINC1
CUI: C0272375
Disease: Antithrombin III Deficiency
Antithrombin III Deficiency 		1.000 Biomarker HPO

Entrez Id: 8820
Gene Symbol: HESX1
HESX1
CUI: C0338503
Disease: Septo-Optic Dysplasia
Septo-Optic Dysplasia 		1.000 Biomarker HPO

Entrez Id: 5080
Gene Symbol: PAX6
PAX6
CUI: C0344559
Disease: Irido-corneo-trabecular dysgenesis (disorder)
Irido-corneo-trabecular dysgenesis (disorder) 		1.000 Biomarker HPO

Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0349639
Disease: Juvenile Myelomonocytic Leukemia
Juvenile Myelomonocytic Leukemia 		1.000 Biomarker HPO

Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0349639
Disease: Juvenile Myelomonocytic Leukemia
Juvenile Myelomonocytic Leukemia 		1.000 Biomarker HPO

Entrez Id: 3845
Gene Symbol: KRAS
KRAS
CUI: C0349639
Disease: Juvenile Myelomonocytic Leukemia
Juvenile Myelomonocytic Leukemia 		1.000 Biomarker HPO

Entrez Id: 367
Gene Symbol: AR
AR
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		1.000 Biomarker HPO

Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		1.000 Biomarker HPO

Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0391826
Disease: Lhermitte-Duclos disease
Lhermitte-Duclos disease 		1.000 Biomarker HPO

Entrez Id: 551
Gene Symbol: AVP
AVP
CUI: C0687720
Disease: Central Diabetes Insipidus
Central Diabetes Insipidus 		1.000 Biomarker HPO

Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C1261473
Disease: Sarcoma
Sarcoma 		1.000 Biomarker HPO

Entrez Id: 8200
Gene Symbol: GDF5
GDF5
CUI: C1862103
Disease: Brachydactyly type C
Brachydactyly type C 		1.000 Biomarker HPO

Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		1.000 Biomarker HPO

Entrez Id: 4233
Gene Symbol: MET
MET
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		1.000 Biomarker HPO

Entrez Id: 5307
Gene Symbol: PITX1
PITX1
CUI: C0009081
Disease: Congenital clubfoot
Congenital clubfoot 		0.970 Biomarker HPO

Entrez Id: 2161
Gene Symbol: F12
F12
CUI: C0015526
Disease: Factor XII Deficiency
Factor XII Deficiency 		0.970 Biomarker HPO

Entrez Id: 5956
Gene Symbol: OPN1LW
OPN1LW
CUI: C0339537
Disease: Cone monochromatism
Cone monochromatism 		0.970 Biomarker HPO

Entrez Id: 208
Gene Symbol: AKT2
AKT2
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.960 Biomarker HPO

Entrez Id: 1482
Gene Symbol: NKX2-5
NKX2-5
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot 		0.960 Biomarker HPO

Entrez Id: 157657
Gene Symbol: C8orf37
C8orf37
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.950 Biomarker HPO