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: 5979
Gene Symbol: RET
RET 		ret proto-oncogene 0.392 0.885 1.00
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		disease 1.000 None 0.960 0 0 1990 2019
Entrez Id: 23414
Gene Symbol: ZFPM2
ZFPM2 		zinc finger protein, FOG family member 2 0.565 0.731 1.00
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot 		disease 1.000 limited 0.929 0 0 2000 2018
Entrez Id: 8820
Gene Symbol: HESX1
HESX1 		HESX homeobox 1 0.561 0.654 8.0E-04
CUI: C0338503
Disease: Septo-Optic Dysplasia
Septo-Optic Dysplasia 		disease 1.000 None 1.000 0 0 1998 2016
Entrez Id: 3172
Gene Symbol: HNF4A
HNF4A 		hepatocyte nuclear factor 4 alpha 0.461 0.808 0.15
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		disease 1.000 None 0.942 0 0 1992 2019
Entrez Id: 551
Gene Symbol: AVP
AVP 		arginine vasopressin 0.437 0.846 7.4E-02
CUI: C0687720
Disease: Central Diabetes Insipidus
Central Diabetes Insipidus 		disease 1.000 None 0.988 0 0 1978 2020
Entrez Id: 5468
Gene Symbol: PPARG
PPARG 		peroxisome proliferator activated receptor gamma 0.358 0.885 2.9E-02
CUI: C0028754
Disease: Obesity
Obesity 		disease 1.000 None 0.960 0 0 1997 2020
Entrez Id: 2131
Gene Symbol: EXT1
EXT1 		exostosin glycosyltransferase 1 0.522 0.769 1.00
CUI: C0015306
Disease: Hereditary Multiple Exostoses
Hereditary Multiple Exostoses 		disease 1.000 definitive 0.977 0 0 1989 2019
Entrez Id: 462
Gene Symbol: SERPINC1
SERPINC1 		serpin family C member 1 0.507 0.769 1.00
CUI: C0272375
Disease: Antithrombin III Deficiency
Antithrombin III Deficiency 		disease 1.000 strong 0.987 0 0 1984 2019
Entrez Id: 5080
Gene Symbol: PAX6
PAX6 		paired box 6 0.450 0.769 1.00
CUI: C0003076
Disease: Aniridia
Aniridia 		disease 1.000 None 0.984 0 0 1978 2020
Entrez Id: 7157
Gene Symbol: TP53
TP53 		tumor protein p53 0.236 0.962 0.53
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma 		disease 1.000 None 0.953 0 0 1987 2020
Entrez Id: 1121
Gene Symbol: CHM
CHM 		CHM Rab escort protein 0.592 0.654 1.00
CUI: C0008525
Disease: Choroideremia
Choroideremia 		disease 1.000 None 0.965 0 0 1987 2020
Entrez Id: 3845
Gene Symbol: KRAS
KRAS 		KRAS proto-oncogene, GTPase 0.320 0.923 7.9E-04
CUI: C0349639
Disease: Juvenile Myelomonocytic Leukemia
Juvenile Myelomonocytic Leukemia 		disease 1.000 None 1.000 0 0 1994 2019
Entrez Id: 6329
Gene Symbol: SCN4A
SCN4A 		sodium voltage-gated channel alpha subunit 4 0.554 0.731 1.3E-02
CUI: C0238357
Disease: Hyperkalemic periodic paralysis
Hyperkalemic periodic paralysis 		disease 1.000 None 1.000 0 0 1989 2019
Entrez Id: 2322
Gene Symbol: FLT3
FLT3 		fms related receptor tyrosine kinase 3 0.462 0.654 0.61
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		disease 1.000 None 0.985 0 0 1992 2020
Entrez Id: 11136
Gene Symbol: SLC7A9
SLC7A9 		solute carrier family 7 member 9 0.666 0.692 9.1E-10
CUI: C0010691
Disease: Cystinuria
Cystinuria 		disease 1.000 definitive 1.000 0 0 1999 2018
Entrez Id: 4609
Gene Symbol: MYC
MYC 		MYC proto-oncogene, bHLH transcription factor 0.344 0.923 1.00
CUI: C0006413
Disease: Burkitt Lymphoma
Burkitt Lymphoma 		disease 1.000 None 0.977 0 0 1982 2020
Entrez Id: 3815
Gene Symbol: KIT
KIT 		KIT proto-oncogene, receptor tyrosine kinase 0.366 0.808 0.98
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors 		group 1.000 definitive 0.951 0 0 1995 2020
Entrez Id: 367
Gene Symbol: AR
AR 		androgen receptor 0.351 0.846 0.99
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		disease 1.000 limited 0.982 0 0 1992 2020
Entrez Id: 3815
Gene Symbol: KIT
KIT 		KIT proto-oncogene, receptor tyrosine kinase 0.366 0.808 0.98
CUI: C0024899
Disease: Mastocytosis
Mastocytosis 		disease 1.000 strong 0.989 0 0 1992 2020
Entrez Id: 8200
Gene Symbol: GDF5
GDF5 		growth differentiation factor 5 0.511 0.692 0.67
CUI: C1862103
Disease: Brachydactyly type C
Brachydactyly type C 		disease 1.000 None 0.923 0 0 1989 2016
Entrez Id: 4233
Gene Symbol: MET
MET 		MET proto-oncogene, receptor tyrosine kinase 0.380 0.846 0.97
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		disease 1.000 None 0.969 0 0 1994 2020
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		phosphatase and tensin homolog 0.305 0.923 0.26
CUI: C0391826
Disease: Lhermitte-Duclos disease
Lhermitte-Duclos disease 		disease 1.000 limited 0.981 0 0 1975 2019
Entrez Id: 3717
Gene Symbol: JAK2
JAK2 		Janus kinase 2 0.385 0.885 0.65
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis 		disease 1.000 None 0.968 0 0 2005 2020
Entrez Id: 4352
Gene Symbol: MPL
MPL 		MPL proto-oncogene, thrombopoietin receptor 0.510 0.692 4.1E-09
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis 		disease 1.000 None 0.978 0 0 1995 2020
Entrez Id: 5080
Gene Symbol: PAX6
PAX6 		paired box 6 0.450 0.769 1.00
CUI: C0344559
Disease: Irido-corneo-trabecular dysgenesis (disorder)
Irido-corneo-trabecular dysgenesis (disorder) 		disease 1.000 strong 0.938 0 0 1983 2011