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: 56006
Gene Symbol: SMG9
SMG9
SMG9 nonsense mediated mRNA decay factor 0.729 0.346 3.5E-13
Abnormality of cardiovascular system morphology
disease 0.100 None 1.000 1 2 2016 2016
Entrez Id: 166379
Gene Symbol: BBS12
BBS12
Bardet-Biedl syndrome 12 0.674 0.462 2.3E-07
Abnormality of cardiovascular system morphology
disease 0.100 None 0 1
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
fibrillin 1 0.417 0.846 1.00
Abnormality of cardiovascular system morphology
disease 0.100 None 0 3
Entrez Id: 29123
Gene Symbol: ANKRD11
ANKRD11
ankyrin repeat domain 11 0.556 0.808 1.00
Abnormality of cardiovascular system morphology
disease 0.100 None 0 1
Entrez Id: 341640
Gene Symbol: FREM2
FREM2
FRAS1 related extracellular matrix 2 0.566 0.577 3.6E-11
Abnormality of cardiovascular system morphology
disease 0.100 None 0 1
Entrez Id: 3708
Gene Symbol: ITPR1
ITPR1
inositol 1,4,5-trisphosphate receptor type 1 0.534 0.846 1.00
Abnormality of cardiovascular system morphology
disease 0.100 None 0 1
Entrez Id: 55636
Gene Symbol: CHD7
CHD7
chromodomain helicase DNA binding protein 7 0.441 0.846 1.00
Abnormality of cardiovascular system morphology
disease 0.100 None 0 1
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
protein tyrosine phosphatase non-receptor type 11 0.385 0.923 1.00
Abnormality of cardiovascular system morphology
disease 0.100 None 0 1
Entrez Id: 9772
Gene Symbol: TMEM94
TMEM94
transmembrane protein 94 0.628 0.654 2.8E-14
Abnormality of cardiovascular system morphology
disease 0.100 None 0 2