Source: ORPHANET

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: 9632
Gene Symbol: SEC24C
SEC24C 		SEC24 homolog C, COPII coat complex component 0.543 0.808 1.00
CUI: C0012236
Disease: DiGeorge Syndrome
DiGeorge Syndrome 		disease 0.300 None 1.000 1 0 2015 2015
Entrez Id: 9632
Gene Symbol: SEC24C
SEC24C 		SEC24 homolog C, COPII coat complex component 0.543 0.808 1.00
CUI: C0220704
Disease: Shprintzen syndrome
Shprintzen syndrome 		disease 0.300 None 1.000 1 0 2015 2015
Entrez Id: 9632
Gene Symbol: SEC24C
SEC24C 		SEC24 homolog C, COPII coat complex component 0.543 0.808 1.00
CUI: C0431406
Disease: Asymmetric crying face association
Asymmetric crying face association 		disease 0.300 None 1.000 1 0 2015 2015
Entrez Id: 9632
Gene Symbol: SEC24C
SEC24C 		SEC24 homolog C, COPII coat complex component 0.543 0.808 1.00
CUI: C0795907
Disease: CONOTRUNCAL ANOMALY FACE SYNDROME
CONOTRUNCAL ANOMALY FACE SYNDROME 		disease 0.300 None 1.000 1 0 2015 2015
Entrez Id: 9632
Gene Symbol: SEC24C
SEC24C 		SEC24 homolog C, COPII coat complex component 0.543 0.808 1.00
CUI: C2936346
Disease: 22q11 Deletion Syndrome
22q11 Deletion Syndrome 		disease 0.300 None 1.000 1 0 2015 2015
Entrez Id: 9632
Gene Symbol: SEC24C
SEC24C 		SEC24 homolog C, COPII coat complex component 0.543 0.808 1.00
CUI: C3266101
Disease: 22q11 partial monosomy syndrome
22q11 partial monosomy syndrome 		disease 0.300 None 1.000 1 0 2015 2015