Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.120 GeneticVariation group 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: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.120 GeneticVariation group LHGDN We report on a large family in which a novel X-linked recessive mental retardation (XLMR) syndrome comprising macrocephaly and ciliary dysfunction co-segregates with a frameshift mutation in the OFD1 gene. 16783569 2006
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.120 GeneticVariation group BEFREE We report on a large family in which a novel X-linked recessive mental retardation (XLMR) syndrome comprising macrocephaly and ciliary dysfunction co-segregates with a frameshift mutation in the OFD1 gene. 16783569 2006
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.120 Biomarker group HPO