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: C1510460
Disease: Orofaciodigital Syndrome I
Orofaciodigital Syndrome I 		disease 0.880 None 1.000 3 0 2001 2019
Entrez Id: 8481
Gene Symbol: OFD1
OFD1 		OFD1 centriole and centriolar satellite protein 0.510 0.808 0.96
CUI: C2749019
Disease: JOUBERT SYNDROME 10 (disorder)
JOUBERT SYNDROME 10 (disorder) 		disease 0.720 None 1.000 5 0 2001 2017
Entrez Id: 8481
Gene Symbol: OFD1
OFD1 		OFD1 centriole and centriolar satellite protein 0.510 0.808 0.96
CUI: C1846175
Disease: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 2 (disorder)
SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 2 (disorder) 		disease 0.640 strong 1.000 3 0 2001 2019
Entrez Id: 8481
Gene Symbol: OFD1
OFD1 		OFD1 centriole and centriolar satellite protein 0.510 0.808 0.96
CUI: C1419610
Disease: RP23 gene
RP23 gene 		disease 0.600 moderate 1.000 1 0 2017 2017
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: 8481
Gene Symbol: OFD1
OFD1 		OFD1 centriole and centriolar satellite protein 0.510 0.808 0.96
CUI: C4277690
Disease: Ciliopathies
Ciliopathies 		disease 0.550 definitive 1.000 0 0 2006 2017
Entrez Id: 8481
Gene Symbol: OFD1
OFD1 		OFD1 centriole and centriolar satellite protein 0.510 0.808 0.96
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		disease 0.510 strong 1.000 0 0 2012 2019
Entrez Id: 8481
Gene Symbol: OFD1
OFD1 		OFD1 centriole and centriolar satellite protein 0.510 0.808 0.96
CUI: C0152427
Disease: Polydactyly
Polydactyly 		disease 0.400 None 0 0
Entrez Id: 8481
Gene Symbol: OFD1
OFD1 		OFD1 centriole and centriolar satellite protein 0.510 0.808 0.96
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		group 0.300 strong 0 0