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: 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