Source: ALL

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: 2200
Gene Symbol: FBN1
FBN1 		fibrillin 1 0.417 0.846 1.00
CUI: C4049796
Disease: Abnormality of cardiovascular system morphology
Abnormality of cardiovascular system morphology 		disease 0.100 None 0 3
Entrez Id: 56006
Gene Symbol: SMG9
SMG9 		SMG9 nonsense mediated mRNA decay factor 0.729 0.346 3.5E-13
CUI: C4049796
Disease: Abnormality of cardiovascular system morphology
Abnormality of cardiovascular system morphology 		disease 0.100 None 1.000 1 2 2016 2016
Entrez Id: 9772
Gene Symbol: TMEM94
TMEM94 		transmembrane protein 94 0.628 0.654 2.8E-14
CUI: C4049796
Disease: Abnormality of cardiovascular system morphology
Abnormality of cardiovascular system morphology 		disease 0.100 None 0 2
Entrez Id: 166379
Gene Symbol: BBS12
BBS12 		Bardet-Biedl syndrome 12 0.674 0.462 2.3E-07
CUI: C4049796
Disease: Abnormality of cardiovascular system morphology
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
CUI: C4049796
Disease: Abnormality of cardiovascular system morphology
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
CUI: C4049796
Disease: Abnormality of cardiovascular system morphology
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
CUI: C4049796
Disease: Abnormality of cardiovascular system morphology
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
CUI: C4049796
Disease: Abnormality of cardiovascular system morphology
Abnormality of cardiovascular system morphology 		disease 0.100 None 0 1
Entrez Id: 29123
Gene Symbol: ANKRD11
ANKRD11 		ankyrin repeat domain 11 0.556 0.808 1.00
CUI: C4049796
Disease: Abnormality of cardiovascular system morphology
Abnormality of cardiovascular system morphology 		disease 0.100 None 0 1
Entrez Id: 7547
Gene Symbol: ZIC3
ZIC3 		Zic family member 3 0.587 0.423 0.92
CUI: C4049796
Disease: Abnormality of cardiovascular system morphology
Abnormality of cardiovascular system morphology 		disease 0.130 None 1.000 3 0 2010 2013
Entrez Id: 3309
Gene Symbol: HSPA5
HSPA5 		heat shock protein family A (Hsp70) member 5 0.434 0.885 0.77
CUI: C4049796
Disease: Abnormality of cardiovascular system morphology
Abnormality of cardiovascular system morphology 		disease 0.010 None 1.000 1 0 2018 2018
Entrez Id: 23414
Gene Symbol: ZFPM2
ZFPM2 		zinc finger protein, FOG family member 2 0.565 0.731 1.00
CUI: C4049796
Disease: Abnormality of cardiovascular system morphology
Abnormality of cardiovascular system morphology 		disease 0.110 None 1.000 1 0 2015 2015
Entrez Id: 4015
Gene Symbol: LOX
LOX 		lysyl oxidase 0.447 0.846 0.99
CUI: C4049796
Disease: Abnormality of cardiovascular system morphology
Abnormality of cardiovascular system morphology 		disease 0.010 None 1.000 1 0 2018 2018
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		phosphatase and tensin homolog 0.305 0.923 0.26
CUI: C4049796
Disease: Abnormality of cardiovascular system morphology
Abnormality of cardiovascular system morphology 		disease 0.010 None 1.000 1 0 2019 2019
Entrez Id: 1855
Gene Symbol: DVL1
DVL1 		dishevelled segment polarity protein 1 0.531 0.769 3.7E-06
CUI: C4049796
Disease: Abnormality of cardiovascular system morphology
Abnormality of cardiovascular system morphology 		disease 0.010 None 1.000 1 0 2014 2014
Entrez Id: 2006
Gene Symbol: ELN
ELN 		elastin 0.415 0.885 2.1E-14
CUI: C4049796
Disease: Abnormality of cardiovascular system morphology
Abnormality of cardiovascular system morphology 		disease 0.010 None 1.000 1 0 2002 2002
Entrez Id: 2316
Gene Symbol: FLNA
FLNA 		filamin A 0.419 0.846 1.00
CUI: C4049796
Disease: Abnormality of cardiovascular system morphology
Abnormality of cardiovascular system morphology 		disease 0.110 None 1.000 1 0 2006 2006
Entrez Id: 7026
Gene Symbol: NR2F2
NR2F2 		nuclear receptor subfamily 2 group F member 2 0.575 0.692 0.99
CUI: C4049796
Disease: Abnormality of cardiovascular system morphology
Abnormality of cardiovascular system morphology 		disease 0.010 None 1.000 1 0 2013 2013
Entrez Id: 2138
Gene Symbol: EYA1
EYA1 		EYA transcriptional coactivator and phosphatase 1 0.531 0.731 0.95
CUI: C4049796
Disease: Abnormality of cardiovascular system morphology
Abnormality of cardiovascular system morphology 		disease 0.010 None 1.000 1 0 2018 2018
Entrez Id: 2146
Gene Symbol: EZH2
EZH2 		enhancer of zeste 2 polycomb repressive complex 2 subunit 0.376 0.885 1.00
CUI: C4049796
Disease: Abnormality of cardiovascular system morphology
Abnormality of cardiovascular system morphology 		disease 0.110 None 1.000 1 0 2012 2012
Entrez Id: 7042
Gene Symbol: TGFB2
TGFB2 		transforming growth factor beta 2 0.433 0.885 1.00
CUI: C4049796
Disease: Abnormality of cardiovascular system morphology
Abnormality of cardiovascular system morphology 		disease 0.010 None 1.000 1 0 2013 2013
Entrez Id: 3720
Gene Symbol: JARID2
JARID2 		jumonji and AT-rich interaction domain containing 2 0.615 0.577 1.00
CUI: C4049796
Disease: Abnormality of cardiovascular system morphology
Abnormality of cardiovascular system morphology 		disease 0.010 None 1.000 1 0 2017 2017
Entrez Id: 30008
Gene Symbol: EFEMP2
EFEMP2 		EGF containing fibulin extracellular matrix protein 2 0.559 0.692 8.2E-03
CUI: C4049796
Disease: Abnormality of cardiovascular system morphology
Abnormality of cardiovascular system morphology 		disease 0.010 None 1.000 1 0 2018 2018
Entrez Id: 3670
Gene Symbol: ISL1
ISL1 		ISL LIM homeobox 1 0.579 0.654 0.87
CUI: C4049796
Disease: Abnormality of cardiovascular system morphology
Abnormality of cardiovascular system morphology 		disease 0.010 None 1.000 1 0 2013 2013
Entrez Id: 23002
Gene Symbol: DAAM1
DAAM1 		dishevelled associated activator of morphogenesis 1 0.682 0.423 1.00
CUI: C4049796
Disease: Abnormality of cardiovascular system morphology
Abnormality of cardiovascular system morphology 		disease 0.010 None < 0.001 1 0 2013 2013