Source: GENOMICS_ENGLAND

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 8481
Gene Symbol: OFD1
OFD1
CUI: C1510460
Disease: Orofaciodigital Syndrome I
Orofaciodigital Syndrome I 		0.880 Biomarker GENOMICS_ENGLAND OFD1 mutations in males: phenotypic spectrum and ciliary basal body docking impairment. 23036093

2013
Entrez Id: 8481
Gene Symbol: OFD1
OFD1
CUI: C1510460
Disease: Orofaciodigital Syndrome I
Orofaciodigital Syndrome I 		0.880 Biomarker GENOMICS_ENGLAND Expanding the molecular basis and phenotypic spectrum of X-linked Joubert syndrome associated with OFD1 mutations. 22353940

2012
Entrez Id: 8481
Gene Symbol: OFD1
OFD1
CUI: C1510460
Disease: Orofaciodigital Syndrome I
Orofaciodigital Syndrome I 		0.880 Biomarker GENOMICS_ENGLAND OFD1 has previously been associated with oral-facial-digital type 1 (OFD1) syndrome, a male-lethal X-linked dominant condition, and with X-linked recessive Simpson-Golabi-Behmel syndrome type 2 (SGBS2). 19800048

2009
Entrez Id: 8481
Gene Symbol: OFD1
OFD1
CUI: C1510460
Disease: Orofaciodigital Syndrome I
Orofaciodigital Syndrome I 		0.880 Biomarker GENOMICS_ENGLAND OFD1 has previously been associated with oral-facial-digital type 1 (OFD1) syndrome, a male-lethal X-linked dominant condition, and with X-linked recessive Simpson-Golabi-Behmel syndrome type 2 (SGBS2). 19800048

2009
Entrez Id: 8481
Gene Symbol: OFD1
OFD1
CUI: C1510460
Disease: Orofaciodigital Syndrome I
Orofaciodigital Syndrome I 		0.880 Biomarker GENOMICS_ENGLAND

Entrez Id: 8481
Gene Symbol: OFD1
OFD1
CUI: C2749019
Disease: JOUBERT SYNDROME 10 (disorder)
JOUBERT SYNDROME 10 (disorder) 		0.720 Biomarker GENOMICS_ENGLAND [Clinical and genetic analysis of a family with Joubert syndrome type 10 caused by OFD1 gene mutation]. 28173652

2017
Entrez Id: 8481
Gene Symbol: OFD1
OFD1
CUI: C2749019
Disease: JOUBERT SYNDROME 10 (disorder)
JOUBERT SYNDROME 10 (disorder) 		0.720 Biomarker GENOMICS_ENGLAND OFD1 mutations in males: phenotypic spectrum and ciliary basal body docking impairment. 23036093

2013
Entrez Id: 8481
Gene Symbol: OFD1
OFD1
CUI: C2749019
Disease: JOUBERT SYNDROME 10 (disorder)
JOUBERT SYNDROME 10 (disorder) 		0.720 Biomarker GENOMICS_ENGLAND Using a combination of linkage mapping and massively parallel sequencing of the X-chromosome exome, we identified an 18-bp deletion in exon 8 of the oral-facial-digital syndrome type 1 (OFD1) gene in a family with X-linked Joubert syndrome (JBTS10). 22353940

2012
Entrez Id: 8481
Gene Symbol: OFD1
OFD1
CUI: C2749019
Disease: JOUBERT SYNDROME 10 (disorder)
JOUBERT SYNDROME 10 (disorder) 		0.720 Biomarker GENOMICS_ENGLAND OFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilin. 19800048

2009
Entrez Id: 8481
Gene Symbol: OFD1
OFD1
CUI: C2749019
Disease: JOUBERT SYNDROME 10 (disorder)
JOUBERT SYNDROME 10 (disorder) 		0.720 Biomarker GENOMICS_ENGLAND OFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilin. 19800048

2009
Entrez Id: 8481
Gene Symbol: OFD1
OFD1
CUI: C2749019
Disease: JOUBERT SYNDROME 10 (disorder)
JOUBERT SYNDROME 10 (disorder) 		0.720 Biomarker GENOMICS_ENGLAND Identification of the gene for oral-facial-digital type I syndrome. 11179005

2001
Entrez Id: 8481
Gene Symbol: OFD1
OFD1
CUI: C2749019
Disease: JOUBERT SYNDROME 10 (disorder)
JOUBERT SYNDROME 10 (disorder) 		0.720 Biomarker GENOMICS_ENGLAND

Entrez Id: 8481
Gene Symbol: OFD1
OFD1
CUI: C1846175
Disease: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 2 (disorder)
SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 2 (disorder) 		0.640 Biomarker GENOMICS_ENGLAND OFD1 mutations in males: phenotypic spectrum and ciliary basal body docking impairment. 23036093

2013
Entrez Id: 8481
Gene Symbol: OFD1
OFD1
CUI: C1846175
Disease: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 2 (disorder)
SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 2 (disorder) 		0.640 Biomarker GENOMICS_ENGLAND OFD1 has previously been associated with oral-facial-digital type 1 (OFD1) syndrome, a male-lethal X-linked dominant condition, and with X-linked recessive Simpson-Golabi-Behmel syndrome type 2 (SGBS2). 19800048

2009
Entrez Id: 8481
Gene Symbol: OFD1
OFD1
CUI: C1846175
Disease: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 2 (disorder)
SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 2 (disorder) 		0.640 Biomarker GENOMICS_ENGLAND Identification of the gene for oral-facial-digital type I syndrome. 11179005

2001
Entrez Id: 8481
Gene Symbol: OFD1
OFD1
CUI: C1846175
Disease: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 2 (disorder)
SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 2 (disorder) 		0.640 Biomarker GENOMICS_ENGLAND

Entrez Id: 8481
Gene Symbol: OFD1
OFD1
CUI: C1419610
Disease: RP23 gene
RP23 gene 		0.600 Biomarker GENOMICS_ENGLAND [Clinical and genetic analysis of a family with Joubert syndrome type 10 caused by OFD1 gene mutation]. 28173652

2017
Entrez Id: 8481
Gene Symbol: OFD1
OFD1
CUI: C0029294
Disease: Orofaciodigital Syndromes
Orofaciodigital Syndromes 		0.590 Biomarker GENOMICS_ENGLAND

Entrez Id: 8481
Gene Symbol: OFD1
OFD1
CUI: C4277690
Disease: Ciliopathies
Ciliopathies 		0.550 Biomarker GENOMICS_ENGLAND

Entrez Id: 8481
Gene Symbol: OFD1
OFD1
CUI: C4277690
Disease: Ciliopathies
Ciliopathies 		0.550 Biomarker GENOMICS_ENGLAND

Entrez Id: 8481
Gene Symbol: OFD1
OFD1
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.510 Biomarker GENOMICS_ENGLAND

Entrez Id: 8481
Gene Symbol: OFD1
OFD1
CUI: C0152427
Disease: Polydactyly
Polydactyly 		0.400 Biomarker GENOMICS_ENGLAND

Entrez Id: 8481
Gene Symbol: OFD1
OFD1
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		0.300 Biomarker GENOMICS_ENGLAND

Entrez Id: 8481
Gene Symbol: OFD1
OFD1
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		0.300 Biomarker GENOMICS_ENGLAND