Source: HPO

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 3815
Gene Symbol: KIT
KIT 		KIT proto-oncogene, receptor tyrosine kinase 0.366 0.808 0.98
CUI: C0080024
Disease: Piebaldism
Piebaldism 		disease 1.000 None 1.000 0 0 1991 2018
Entrez Id: 1050
Gene Symbol: CEBPA
CEBPA 		CCAAT enhancer binding protein alpha 0.496 0.692 0.55
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		disease 1.000 definitive 0.985 0 0 1992 2020
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11 		protein tyrosine phosphatase non-receptor type 11 0.385 0.923 1.00
CUI: C0349639
Disease: Juvenile Myelomonocytic Leukemia
Juvenile Myelomonocytic Leukemia 		disease 1.000 None 0.983 0 0 2000 2020
Entrez Id: 5506
Gene Symbol: PPP1R3A
PPP1R3A 		protein phosphatase 1 regulatory subunit 3A 0.711 0.577 9.3E-16
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		disease 1.000 limited 0.929 0 0 1994 2018
Entrez Id: 5078
Gene Symbol: PAX4
PAX4 		paired box 4 0.644 0.423 4.2E-04
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		disease 1.000 limited 0.857 0 0 1999 2019
Entrez Id: 7051
Gene Symbol: TGM1
TGM1 		transglutaminase 1 0.565 0.769 2.3E-13
CUI: C0079154
Disease: Congenital Nonbullous Ichthyosiform Erythroderma
Congenital Nonbullous Ichthyosiform Erythroderma 		disease 1.000 limited 1.000 0 0 1994 2019
Entrez Id: 4763
Gene Symbol: NF1
NF1 		neurofibromin 1 0.440 0.885 0.90
CUI: C0349639
Disease: Juvenile Myelomonocytic Leukemia
Juvenile Myelomonocytic Leukemia 		disease 1.000 strong 0.957 0 0 1995 2015
Entrez Id: 29914
Gene Symbol: UBIAD1
UBIAD1 		UbiA prenyltransferase domain containing 1 0.700 0.462 2.0E-02
CUI: C0271287
Disease: Schnyder crystalline corneal dystrophy
Schnyder crystalline corneal dystrophy 		disease 1.000 strong 0.957 0 0 2007 2019
Entrez Id: 6519
Gene Symbol: SLC3A1
SLC3A1 		solute carrier family 3 member 1 0.593 0.731 7.2E-27
CUI: C0010691
Disease: Cystinuria
Cystinuria 		disease 1.000 definitive 0.987 0 0 1993 2019
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		phosphatase and tensin homolog 0.305 0.923 0.26
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		disease 1.000 strong 0.975 0 0 1972 2020
Entrez Id: 5354
Gene Symbol: PLP1
PLP1 		proteolipid protein 1 0.543 0.769 0.93
CUI: C0205711
Disease: Pelizaeus-Merzbacher Disease
Pelizaeus-Merzbacher Disease 		disease 1.000 definitive 0.979 0 0 1962 2019
Entrez Id: 7157
Gene Symbol: TP53
TP53 		tumor protein p53 0.236 0.962 0.53
CUI: C1261473
Disease: Sarcoma
Sarcoma 		group 1.000 strong 0.955 0 0 1987 2020
Entrez Id: 673
Gene Symbol: BRAF
BRAF 		B-Raf proto-oncogene, serine/threonine kinase 0.319 0.846 1.00
CUI: C0025202
Disease: melanoma
melanoma 		disease 1.000 None 0.983 0 0 1986 2020
Entrez Id: 175
Gene Symbol: AGA
AGA 		aspartylglucosaminidase 0.570 0.808 4.3E-06
CUI: C0268225
Disease: Aspartylglucosaminuria
Aspartylglucosaminuria 		phenotype 1.000 None 0.960 0 0 1990 2019
Entrez Id: 3848
Gene Symbol: KRT1
KRT1 		keratin 1 0.575 0.654 0.74
CUI: C0079153
Disease: Hyperkeratosis, Epidermolytic
Hyperkeratosis, Epidermolytic 		disease 1.000 None 0.951 0 0 1992 2019
Entrez Id: 4160
Gene Symbol: MC4R
MC4R 		melanocortin 4 receptor 0.535 0.692 9.2E-04
CUI: C0028754
Disease: Obesity
Obesity 		disease 1.000 None 0.961 0 0 1997 2020
Entrez Id: 5077
Gene Symbol: PAX3
PAX3 		paired box 3 0.481 0.769 0.24
CUI: C0206655
Disease: Alveolar rhabdomyosarcoma
Alveolar rhabdomyosarcoma 		disease 1.000 None 0.983 0 0 1993 2019
Entrez Id: 249
Gene Symbol: ALPL
ALPL 		alkaline phosphatase, biomineralization associated 0.546 0.769 3.6E-04
CUI: C0268412
Disease: Infantile hypophosphatasia
Infantile hypophosphatasia 		disease 1.000 None 1.000 0 0 1987 2019
Entrez Id: 7157
Gene Symbol: TP53
TP53 		tumor protein p53 0.236 0.962 0.53
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		disease 1.000 None 0.959 0 0 1990 2020
Entrez Id: 5956
Gene Symbol: OPN1LW
OPN1LW 		opsin 1, long wave sensitive 0.497 0.808 0.98
CUI: C0339537
Disease: Cone monochromatism
Cone monochromatism 		disease 0.970 strong 1.000 0 0 1993 2019
Entrez Id: 2161
Gene Symbol: F12
F12 		coagulation factor XII 0.612 0.577 8.3E-08
CUI: C0015526
Disease: Factor XII Deficiency
Factor XII Deficiency 		disease 0.970 definitive 1.000 0 0 1979 2019
Entrez Id: 5307
Gene Symbol: PITX1
PITX1 		paired like homeodomain 1 0.561 0.654 0.88
CUI: C0009081
Disease: Congenital clubfoot
Congenital clubfoot 		disease 0.970 None 0.889 0 0 2008 2019
Entrez Id: 208
Gene Symbol: AKT2
AKT2 		AKT serine/threonine kinase 2 0.474 0.769 0.64
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		disease 0.960 None 1.000 0 0 2001 2018
Entrez Id: 1482
Gene Symbol: NKX2-5
NKX2-5 		NK2 homeobox 5 0.533 0.692 0.95
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot 		disease 0.960 None 0.909 0 0 1999 2018
Entrez Id: 8200
Gene Symbol: GDF5
GDF5 		growth differentiation factor 5 0.511 0.692 0.67
CUI: C1832702
Disease: BRACHYDACTYLY, TYPE A2
BRACHYDACTYLY, TYPE A2 		disease 0.950 None 1.000 0 0 1989 2012