Source: GENOMICS_ENGLAND

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: 8481
Gene Symbol: OFD1
OFD1 		OFD1 centriole and centriolar satellite protein 0.510 0.808 0.96
CUI: C0029294
Disease: Orofaciodigital Syndromes
Orofaciodigital Syndromes 		disease 0.590 None 1.000 0 0 2003 2019
Entrez Id: 84314
Gene Symbol: TMEM107
TMEM107 		transmembrane protein 107 0.592 0.692 3.1E-08
CUI: C0029294
Disease: Orofaciodigital Syndromes
Orofaciodigital Syndromes 		disease 0.430 moderate 1.000 1 0 2014 2018
Entrez Id: 132320
Gene Symbol: SCLT1
SCLT1 		sodium channel and clathrin linker 1 0.663 0.577 4.4E-16
CUI: C0029294
Disease: Orofaciodigital Syndromes
Orofaciodigital Syndromes 		disease 0.320 limited 1.000 1 0 2014 2017
Entrez Id: 83479
Gene Symbol: DDX59
DDX59 		DEAD-box helicase 59 0.650 0.423 5.9E-07
CUI: C0029294
Disease: Orofaciodigital Syndromes
Orofaciodigital Syndromes 		disease 0.320 moderate 1.000 1 0 2013 2017
Entrez Id: 317662
Gene Symbol: FAM149B1
FAM149B1 		family with sequence similarity 149 member B1 0.663 0.423 2.5E-13
CUI: C0029294
Disease: Orofaciodigital Syndromes
Orofaciodigital Syndromes 		disease 0.310 moderate 1.000 1 0 2019 2019