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: 773
Gene Symbol: CACNA1A
CACNA1A
calcium voltage-gated channel subunit alpha1 A 0.534 0.552 1.00
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
group 0.100 45 4 1988 2017
Entrez Id: 4763
Gene Symbol: NF1
NF1
neurofibromin 1 0.458 0.724 1.00
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
group 0.100 35 4 1967 2017
Entrez Id: 1788
Gene Symbol: DNMT3A
DNMT3A
DNA methyltransferase 3 alpha 0.507 0.690 3.7E-28
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
group 0.100 35 3 1989 2018
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
lamin A/C 0.406 0.724 1.00
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
group 0.100 35 2 1999 2012
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
fibroblast growth factor receptor 3 0.417 0.759 1.8E-05
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
group 0.100 33 3 1986 2016
Entrez Id: 998
Gene Symbol: CDC42
CDC42
cell division cycle 42 0.511 0.828 0.81
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
group 0.100 31 2 1993 2018
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A
sodium voltage-gated channel alpha subunit 2 0.586 0.276 1.00
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
group 0.100 31 1 1991 2018
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
fibrillin 1 0.469 0.690 1.00
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
group 0.100 29 3 1986 2016
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2
potassium voltage-gated channel subfamily Q member 2 0.557 0.483 1.00
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
group 0.100 29 6 1980 2018
Entrez Id: 6651
Gene Symbol: SON
SON
SON DNA binding protein 0.652 0.552 1.00
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
group 0.100 28 3 1988 2017
Entrez Id: 10472
Gene Symbol: ZBTB18
ZBTB18
zinc finger and BTB domain containing 18 0.611 0.345 1.00
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
group 0.100 27 3 1998 2017
Entrez Id: 478
Gene Symbol: ATP1A3
ATP1A3
ATPase Na+/K+ transporting subunit alpha 3 0.580 0.379 1.00
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
group 0.100 27 5 1988 2017
Entrez Id: 6812
Gene Symbol: STXBP1
STXBP1
syntaxin binding protein 1 0.596 0.483 1.00
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
group 0.100 27 3 1998 2016
Entrez Id: 55209
Gene Symbol: SETD5
SETD5
SET domain containing 5 0.611 0.690 1.00
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
group 0.100 26 3 1995 2018
Entrez Id: 3737
Gene Symbol: KCNA2
KCNA2
potassium voltage-gated channel subfamily A member 2 0.656 0.276 0.87
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
group 0.100 26 1 1991 2017
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
fibroblast growth factor receptor 2 0.398 0.759 1.00
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
group 0.100 26 2 1986 2017
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A
sodium voltage-gated channel alpha subunit 8 0.557 0.552 1.00
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
group 0.100 25 2 1995 2017
Entrez Id: 2902
Gene Symbol: GRIN1
GRIN1
glutamate ionotropic receptor NMDA type subunit 1 0.630 0.448 0.99
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
group 0.100 25 2 1983 2017
Entrez Id: 8085
Gene Symbol: KMT2D
KMT2D
lysine methyltransferase 2D 0.520 0.724 1.00
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
group 0.100 25 4 1989 2018
Entrez Id: 59341
Gene Symbol: TRPV4
TRPV4
transient receptor potential cation channel subfamily V member 4 0.519 0.759 2.6E-16
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
group 0.100 24 2 1976 2018
Entrez Id: 1213
Gene Symbol: CLTC
CLTC
clathrin heavy chain 0.659 0.483 1.00
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
group 0.100 23 2 1976 2017
Entrez Id: 4297
Gene Symbol: KMT2A
KMT2A
lysine methyltransferase 2A 0.460 0.793 1.00
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
group 0.100 22 5 1989 2017
Entrez Id: 6925
Gene Symbol: TCF4
TCF4
transcription factor 4 0.494 0.655 1.00
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
group 0.100 22 1 2007 2018
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
catenin beta 1 0.417 0.759 1.00
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
group 0.100 22 4 1991 2017
Entrez Id: 111
Gene Symbol: ADCY5
ADCY5
adenylate cyclase 5 0.645 0.448 1.00
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
group 0.100 22 3 1992 2018