Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 2 (disorder)
0.640 Biomarker disease BEFREE Mutations of the X-linked <i>OFD1</i> gene cause several syndromic ciliopathies, including oral-facial-digital syndrome type 1, Joubert syndrome type 10 (JBTS10), and Simpson-Golabi-Behmel syndrome type 2, the latter causing the X-linked syndromic form of PCD. 31366608 2019
SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 2 (disorder)
0.640 GeneticVariation disease BEFREE Over time, pathogenic variants in OFD1 were found to be associated with X-linked intellectual disability, Joubert syndrome type 10 (JBTS10), Simpson-Golabi-Behmel syndrome type 2 (SGBS2), and retinitis pigmentosa. 31373179 2019
SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 2 (disorder)
0.640 GeneticVariation disease BEFREE Mutations in OFD1 also cause X-linked Joubert syndrome (JBTS10) and Simpson-Golabi-Behmel syndrome type 2 (SGBS2). 23033313 2013
SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 2 (disorder)
0.640 Biomarker disease GENOMICS_ENGLAND OFD1 mutations in males: phenotypic spectrum and ciliary basal body docking impairment. 23036093 2013
SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 2 (disorder)
0.640 GeneticVariation disease BEFREE 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
SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 2 (disorder)
0.640 Biomarker disease 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
SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 2 (disorder)
0.640 CausalMutation disease CLINVAR Mutational spectrum of the oral-facial-digital type I syndrome: a study on a large collection of patients. 18546297 2008
SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 2 (disorder)
0.640 Biomarker disease GENOMICS_ENGLAND Identification of the gene for oral-facial-digital type I syndrome. 11179005 2001
SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 2 (disorder)
0.640 Biomarker disease CTD_human
SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 2 (disorder)
0.640 Biomarker disease GENOMICS_ENGLAND