Source: CTD_human

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: 540
Gene Symbol: ATP7B
ATP7B
ATPase copper transporting beta 0.547 0.621 5.4E-30
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
disease 1.000 0.976 51 0 1983 2018
Entrez Id: 538
Gene Symbol: ATP7A
ATP7A
ATPase copper transporting alpha 0.518 0.655 1.00
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome
disease 1.000 definitive 0.958 28 0 1953 2018
Entrez Id: 673
Gene Symbol: BRAF
BRAF
B-Raf proto-oncogene, serine/threonine kinase 0.352 0.793 1.00
CUI: C0025202
Disease: melanoma
melanoma
disease 1.000 0.972 21 0 1986 2018
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
methyl-CpG binding protein 2 0.463 0.862 0.78
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome
disease 1.000 definitive 0.954 16 0 1966 2018
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
cystic fibrosis transmembrane conductance regulator 0.453 0.793 1.1E-57
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
disease 1.000 0.948 15 0 1989 2018
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
sodium voltage-gated channel alpha subunit 5 0.527 0.552 0.88
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder)
disease 1.000 strong 0.974 15 0 1996 2018
Entrez Id: 2322
Gene Symbol: FLT3
FLT3
fms related tyrosine kinase 3 0.503 0.517 0.61
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
disease 1.000 0.979 13 0 1992 2018
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
phosphatase and tensin homolog 0.334 0.828 0.82
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple
disease 1.000 0.948 13 0 1997 2018
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
phosphatase and tensin homolog 0.334 0.828 0.82
CUI: C0265326
Disease: Bannayan-Riley-Ruvalcaba Syndrome
Bannayan-Riley-Ruvalcaba Syndrome
disease 1.000 0.981 13 0 1997 2016
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
phosphatase and tensin homolog 0.334 0.828 0.82
CUI: C0391826
Disease: Lhermitte-Duclos disease
Lhermitte-Duclos disease
disease 1.000 0.917 13 0 1997 2016
Entrez Id: 3717
Gene Symbol: JAK2
JAK2
Janus kinase 2 0.430 0.690 0.47
CUI: C0032463
Disease: Polycythemia Vera
Polycythemia Vera
disease 1.000 0.954 11 0 2005 2018
Entrez Id: 1717
Gene Symbol: DHCR7
DHCR7
7-dehydrocholesterol reductase 0.527 0.759 6.7E-12
CUI: C0175694
Disease: Smith-Lemli-Opitz Syndrome
Smith-Lemli-Opitz Syndrome
disease 1.000 0.977 10 0 1993 2018
Entrez Id: 1756
Gene Symbol: DMD
DMD
dystrophin 0.477 0.724 1.00
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne
disease 1.000 0.969 10 0 1982 2018
Entrez Id: 3717
Gene Symbol: JAK2
JAK2
Janus kinase 2 0.430 0.690 0.47
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis
disease 1.000 0.945 9 0 2005 2018
Entrez Id: 368
Gene Symbol: ABCC6
ABCC6
ATP binding cassette subfamily C member 6 0.590 0.552 4.8E-35
CUI: C0033847
Disease: Pseudoxanthoma Elasticum
Pseudoxanthoma Elasticum
disease 1.000 0.906 8 0 2000 2018
Entrez Id: 2332
Gene Symbol: FMR1
FMR1
fragile X mental retardation 1 0.492 0.690 0.69
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome
disease 1.000 0.979 8 0 1991 2018
Entrez Id: 2395
Gene Symbol: FXN
FXN
frataxin 0.527 0.586 0.33
CUI: C0016719
Disease: Friedreich Ataxia
Friedreich Ataxia
disease 1.000 definitive 0.996 8 0 1990 2018
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
fibrillin 1 0.469 0.690 1.00
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome
disease 1.000 definitive 0.957 7 0 1973 2018
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
ryanodine receptor 1 0.545 0.621 2.3E-28
Malignant hyperpyrexia due to anesthesia
disease 1.000 0.954 7 0 1990 2018
Entrez Id: 2629
Gene Symbol: GBA
GBA
glucosylceramidase beta 0.521 0.724 5.6E-06
CUI: C1961835
Disease: Gaucher Disease, Type 1
Gaucher Disease, Type 1
disease 1.000 0.909 6 0 1983 2016
Entrez Id: 2737
Gene Symbol: GLI3
GLI3
GLI family zinc finger 3 0.485 0.724 1.00
Greig cephalopolysyndactyly syndrome
disease 1.000 0.923 6 0 1984 2017
Entrez Id: 5310
Gene Symbol: PKD1
PKD1
polycystin 1, transient receptor potential channel interacting 0.537 0.621 1.00
Polycystic Kidney, Autosomal Dominant
disease 1.000 definitive 0.972 6 0 1989 2018
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
patched 1 0.435 0.759 1.00
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome
disease 1.000 definitive 0.974 6 0 1996 2018
Entrez Id: 7274
Gene Symbol: TTPA
TTPA
alpha tocopherol transfer protein 0.642 0.379 1.5E-03
CUI: C1848533
Disease: Ataxia with vitamin E deficiency
Ataxia with vitamin E deficiency
disease 1.000 1.000 6 0 1985 2015
Entrez Id: 472
Gene Symbol: ATM
ATM
ATM serine/threonine kinase 0.401 0.862 6.0E-46
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia
disease 1.000 0.944 5 0 1978 2018