Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 8481
Gene Symbol: OFD1
OFD1
0.110 GeneticVariation disease 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
Entrez Id: 8481
Gene Symbol: OFD1
OFD1
0.110 Biomarker disease HPO