Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1510460
Disease: Orofaciodigital Syndrome I
Orofaciodigital Syndrome I 		0.880 GeneticVariation disease BEFREE OFIP/KIAA0753 forms a complex with OFD1 and FOR20 at pericentriolar satellites and centrosomes and is mutated in one individual with oral-facial-digital syndrome. 26643951 2016
CUI: C1510460
Disease: Orofaciodigital Syndrome I
Orofaciodigital Syndrome I 		0.880 Biomarker disease BEFREE OFD1 has long been recognized as the gene implicated in the classic dysmorphology syndrome, oral-facial-digital syndrome type I (OFDSI). 31373179 2019
CUI: C1510460
Disease: Orofaciodigital Syndrome I
Orofaciodigital Syndrome I 		0.880 Biomarker disease BEFREE We show that SDCCAG8 is localized at both centrioles and interacts directly with OFD1 (oral-facial-digital syndrome 1), which is associated with NPHP-RC. 20835237 2010
CUI: C1510460
Disease: Orofaciodigital Syndrome I
Orofaciodigital Syndrome I 		0.880 GeneticVariation disease BEFREE Oral-facial-digital syndrome (OFDS) type 1 (OFD1) is an X-linked dominant condition associated with embryonic male lethality. 21729220 2011
CUI: C1510460
Disease: Orofaciodigital Syndrome I
Orofaciodigital Syndrome I 		0.880 AlteredExpression disease BEFREE RNA in situ studies on mouse embryo tissue sections show that Ofd1 is developmentally regulated and is expressed in all tissues affected in OFD1 syndrome. 11179005 2001
CUI: C1510460
Disease: Orofaciodigital Syndrome I
Orofaciodigital Syndrome I 		0.880 GeneticVariation disease BEFREE To model OFD1 syndrome in embryonic stem cells, we replaced the Ofd1 gene with missense alleles from human OFD1 patients. 20230748 2010
CUI: C1510460
Disease: Orofaciodigital Syndrome I
Orofaciodigital Syndrome I 		0.880 Biomarker 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
CUI: C1510460
Disease: Orofaciodigital Syndrome I
Orofaciodigital Syndrome I 		0.880 GeneticVariation disease BEFREE We found weak but consistent associations with the oral-facial-digital syndrome 1 (OFD1) gene (formerly known as CXORF5) in the Danish iCL/P samples across all models, but not in the Norwegian iCL/P samples. 22723972 2012
CUI: C2749019
Disease: JOUBERT SYNDROME 10 (disorder)
JOUBERT SYNDROME 10 (disorder) 		0.720 GeneticVariation disease BEFREE Mutations in OFD1 also cause X-linked Joubert syndrome (JBTS10) and Simpson-Golabi-Behmel syndrome type 2 (SGBS2). 23033313 2013
CUI: C2749019
Disease: JOUBERT SYNDROME 10 (disorder)
JOUBERT SYNDROME 10 (disorder) 		0.720 GeneticVariation disease BEFREE 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
CUI: C1846175
Disease: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 2 (disorder)
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
CUI: C1846175
Disease: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 2 (disorder)
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
CUI: C1846175
Disease: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 2 (disorder)
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
CUI: C1846175
Disease: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 2 (disorder)
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
CUI: C0029294
Disease: Orofaciodigital Syndromes
Orofaciodigital Syndromes 		0.590 GeneticVariation disease BEFREE We found weak but consistent associations with the oral-facial-digital syndrome 1 (OFD1) gene (formerly known as CXORF5) in the Danish iCL/P samples across all models, but not in the Norwegian iCL/P samples. 22723972 2012
CUI: C0029294
Disease: Orofaciodigital Syndromes
Orofaciodigital Syndromes 		0.590 GeneticVariation disease BEFREE Mutations in OFD1 cause the syndromic ciliopathies orofaciodigital syndrome-1, which is male lethal, Simpson-Golabi-Behmel syndrome type 2 and Joubert syndrome. 22619378 2012
CUI: C0029294
Disease: Orofaciodigital Syndromes
Orofaciodigital Syndromes 		0.590 GeneticVariation disease BEFREE Long-term follow-up of a girl with oro-facio-digital syndrome type I due to a mutation in the OFD 1 gene. 12119212 2003
CUI: C0029294
Disease: Orofaciodigital Syndromes
Orofaciodigital Syndromes 		0.590 GeneticVariation disease BEFREE Orofaciodigital syndrome type I and X-linked recessive Joubert syndrome are known ciliopathic disorders that are caused by pathogenic variants in OFD1 gene. 30895720 2019
CUI: C0029294
Disease: Orofaciodigital Syndromes
Orofaciodigital Syndromes 		0.590 GeneticVariation disease BEFREE OFIP/KIAA0753 forms a complex with OFD1 and FOR20 at pericentriolar satellites and centrosomes and is mutated in one individual with oral-facial-digital syndrome. 26643951 2016
CUI: C0029294
Disease: Orofaciodigital Syndromes
Orofaciodigital Syndromes 		0.590 GeneticVariation disease BEFREE Novel mutations including deletions of the entire OFD1 gene in 30 families with type 1 orofaciodigital syndrome: a study of the extensive clinical variability. 23033313 2013
CUI: C0029294
Disease: Orofaciodigital Syndromes
Orofaciodigital Syndromes 		0.590 Biomarker disease BEFREE Here, we show that the gene underlying orofaciodigital syndrome 1, Ofd1, is a component of the distal centriole that controls centriole length. 20230748 2010
CUI: C0029294
Disease: Orofaciodigital Syndromes
Orofaciodigital Syndromes 		0.590 GeneticVariation disease BEFREE Oral-facial-digital syndrome (OFDS) type 1 (OFD1) is an X-linked dominant condition associated with embryonic male lethality. 21729220 2011
CUI: C0029294
Disease: Orofaciodigital Syndromes
Orofaciodigital Syndromes 		0.590 Biomarker disease BEFREE We show that SDCCAG8 is localized at both centrioles and interacts directly with OFD1 (oral-facial-digital syndrome 1), which is associated with NPHP-RC. 20835237 2010
CUI: C4277690
Disease: Ciliopathies
Ciliopathies 		0.550 GeneticVariation disease BEFREE OFD1 and FOR20 are known to regulate the integrity of the centriole distal end, confirming that this structural element is a target of importance for pathogenic mutations in ciliopathies. 26643951 2016
CUI: C4277690
Disease: Ciliopathies
Ciliopathies 		0.550 GeneticVariation disease BEFREE Defects in OFD1 underlie the clinically complex ciliopathy, Oral-Facial-Digital syndrome Type I (OFD Type I). 27798113 2017