Source: MGD

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: 585
Gene Symbol: BBS4
BBS4 		Bardet-Biedl syndrome 4 0.647 0.615 1.5E-16
CUI: C0869083
Disease: Other specified congenital malformation syndromes, not elsewhere classified in ICD10CM
Other specified congenital malformation syndromes, not elsewhere classified in ICD10CM 		disease 0.200 None 1.000 8 0 2004 2019
Entrez Id: 582
Gene Symbol: BBS1
BBS1 		Bardet-Biedl syndrome 1 0.593 0.692 3.4E-12
CUI: C0869083
Disease: Other specified congenital malformation syndromes, not elsewhere classified in ICD10CM
Other specified congenital malformation syndromes, not elsewhere classified in ICD10CM 		disease 0.200 None 1.000 4 0 2004 2015
Entrez Id: 57167
Gene Symbol: SALL4
SALL4 		spalt like transcription factor 4 0.489 0.769 1.00
CUI: C0869083
Disease: Other specified congenital malformation syndromes, not elsewhere classified in ICD10CM
Other specified congenital malformation syndromes, not elsewhere classified in ICD10CM 		disease 0.200 None 1.000 3 0 2006 2007
Entrez Id: 123016
Gene Symbol: TTC8
TTC8 		tetratricopeptide repeat domain 8 0.631 0.500 1.2E-06
CUI: C0869083
Disease: Other specified congenital malformation syndromes, not elsewhere classified in ICD10CM
Other specified congenital malformation syndromes, not elsewhere classified in ICD10CM 		disease 0.200 None 1.000 1 0 2011 2011
Entrez Id: 8242
Gene Symbol: KDM5C
KDM5C 		lysine demethylase 5C 0.581 0.538 1.00
CUI: C0869083
Disease: Other specified congenital malformation syndromes, not elsewhere classified in ICD10CM
Other specified congenital malformation syndromes, not elsewhere classified in ICD10CM 		disease 0.200 None 1.000 1 0 2016 2016
Entrez Id: 8195
Gene Symbol: MKKS
MKKS 		McKusick-Kaufman syndrome 0.566 0.692 2.1E-09
CUI: C0869083
Disease: Other specified congenital malformation syndromes, not elsewhere classified in ICD10CM
Other specified congenital malformation syndromes, not elsewhere classified in ICD10CM 		disease 0.200 None 1.000 1 0 2005 2005
Entrez Id: 79738
Gene Symbol: BBS10
BBS10 		Bardet-Biedl syndrome 10 0.644 0.538 1.7E-12
CUI: C0869083
Disease: Other specified congenital malformation syndromes, not elsewhere classified in ICD10CM
Other specified congenital malformation syndromes, not elsewhere classified in ICD10CM 		disease 0.200 None 1.000 1 0 2015 2015
Entrez Id: 583
Gene Symbol: BBS2
BBS2 		Bardet-Biedl syndrome 2 0.565 0.654 1.0E-17
CUI: C0869083
Disease: Other specified congenital malformation syndromes, not elsewhere classified in ICD10CM
Other specified congenital malformation syndromes, not elsewhere classified in ICD10CM 		disease 0.200 None 1.000 1 0 2004 2004
Entrez Id: 54585
Gene Symbol: LZTFL1
LZTFL1 		leucine zipper transcription factor like 1 0.638 0.692 5.9E-02
CUI: C0869083
Disease: Other specified congenital malformation syndromes, not elsewhere classified in ICD10CM
Other specified congenital malformation syndromes, not elsewhere classified in ICD10CM 		disease 0.200 None 1.000 1 0 2015 2015
Entrez Id: 51114
Gene Symbol: ZDHHC9
ZDHHC9 		zinc finger DHHC-type palmitoyltransferase 9 0.670 0.577 0.74
CUI: C0869083
Disease: Other specified congenital malformation syndromes, not elsewhere classified in ICD10CM
Other specified congenital malformation syndromes, not elsewhere classified in ICD10CM 		disease 0.200 None 1.000 1 0 2018 2018
Entrez Id: 22858
Gene Symbol: CILK1
CILK1 		ciliogenesis associated kinase 1 0.545 0.808 1.3E-05
CUI: C0869083
Disease: Other specified congenital malformation syndromes, not elsewhere classified in ICD10CM
Other specified congenital malformation syndromes, not elsewhere classified in ICD10CM 		disease 0.200 None 1.000 1 0 2014 2014
Entrez Id: 92482
Gene Symbol: BBIP1
BBIP1 		BBSome interacting protein 1 0.695 0.423 4.2E-03
CUI: C0869083
Disease: Other specified congenital malformation syndromes, not elsewhere classified in ICD10CM
Other specified congenital malformation syndromes, not elsewhere classified in ICD10CM 		disease 0.200 None 1.000 1 0 2013 2013
Entrez Id: 5604
Gene Symbol: MAP2K1
MAP2K1 		mitogen-activated protein kinase kinase 1 0.439 0.846 0.90
CUI: C0869083
Disease: Other specified congenital malformation syndromes, not elsewhere classified in ICD10CM
Other specified congenital malformation syndromes, not elsewhere classified in ICD10CM 		disease 0.200 None 0 0
Entrez Id: 673
Gene Symbol: BRAF
BRAF 		B-Raf proto-oncogene, serine/threonine kinase 0.319 0.846 1.00
CUI: C0869083
Disease: Other specified congenital malformation syndromes, not elsewhere classified in ICD10CM
Other specified congenital malformation syndromes, not elsewhere classified in ICD10CM 		disease 0.200 None 0 0