Source: CLINVAR

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: 259232
Gene Symbol: NALCN
NALCN 		sodium leak channel, non-selective 0.587 0.615 8.5E-14
CUI: C3494422
Disease: Retrognathia
Retrognathia 		disease 0.100 None 1.000 1 1 2016 2016
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1 		collagen type II alpha 1 chain 0.444 0.846 1.00
CUI: C3494422
Disease: Retrognathia
Retrognathia 		disease 0.100 None 0 1
Entrez Id: 7204
Gene Symbol: TRIO
TRIO 		trio Rho guanine nucleotide exchange factor 0.556 0.731 1.00
CUI: C3494422
Disease: Retrognathia
Retrognathia 		disease 0.100 None 0 1
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8 		ATP binding cassette subfamily C member 8 0.474 0.846 8.0E-24
CUI: C3494422
Disease: Retrognathia
Retrognathia 		disease 0.100 None 0 1
Entrez Id: 54551
Gene Symbol: MAGEL2
MAGEL2 		MAGE family member L2 0.560 0.654 0.98
CUI: C3494422
Disease: Retrognathia
Retrognathia 		disease 0.100 None 0 1
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		methyl-CpG binding protein 2 0.414 0.846 0.89
CUI: C3494422
Disease: Retrognathia
Retrognathia 		disease 0.100 None 0 1
Entrez Id: 3930
Gene Symbol: LBR
LBR 		lamin B receptor 0.473 0.808 0.18
CUI: C3494422
Disease: Retrognathia
Retrognathia 		disease 0.100 None 0 1
Entrez Id: 29123
Gene Symbol: ANKRD11
ANKRD11 		ankyrin repeat domain 11 0.556 0.808 1.00
CUI: C3494422
Disease: Retrognathia
Retrognathia 		disease 0.100 None 0 1
Entrez Id: 285175
Gene Symbol: UNC80
UNC80 		unc-80 homolog, NALCN channel complex subunit 0.626 0.462 5.2E-02
CUI: C3494422
Disease: Retrognathia
Retrognathia 		disease 0.100 None 0 1
Entrez Id: 2200
Gene Symbol: FBN1
FBN1 		fibrillin 1 0.417 0.846 1.00
CUI: C3494422
Disease: Retrognathia
Retrognathia 		disease 0.100 None 0 1
Entrez Id: 9839
Gene Symbol: ZEB2
ZEB2 		zinc finger E-box binding homeobox 2 0.471 0.808 1.00
CUI: C3494422
Disease: Retrognathia
Retrognathia 		disease 0.100 None 0 1