Disease: Orofaciodigital syndrome type1 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2931426
Disease: Orofaciodigital syndrome type1
Orofaciodigital syndrome type1 		0.360 GeneticVariation disease BEFREE Oral-facial-digital syndrome type 1 (OFD1; OMIM# 311200) is an X-linked dominant ciliopathy caused by mutations in the OFD1 gene. 28371265 2017
CUI: C2931426
Disease: Orofaciodigital syndrome type1
Orofaciodigital syndrome type1 		0.360 GeneticVariation disease BEFREE Oral-facial-digital syndrome type 1 (OFD1; OMIM #311200) is an X-linked dominant disorder, caused by heterozygous mutations in the OFD1 gene and characterized by facial anomalies, abnormalities in oral tissues, digits, brain, and kidney; and male lethality in the first or second trimester pregnancy. 22548404 2013
CUI: C2931426
Disease: Orofaciodigital syndrome type1
Orofaciodigital syndrome type1 		0.360 GeneticVariation disease BEFREE Oral-facial-digital syndrome type 1 (OFD1; MIM 311200) is characterized by multiple anomalies of the oral cavity, face and digits. 24712474 2013
CUI: C2931426
Disease: Orofaciodigital syndrome type1
Orofaciodigital syndrome type1 		0.360 GeneticVariation disease BEFREE A novel mutation in the OFD1 (Cxorf5) gene may contribute to oral phenotype in patients with oral-facial-digital syndrome type 1. 21729220 2011
CUI: C2931426
Disease: Orofaciodigital syndrome type1
Orofaciodigital syndrome type1 		0.360 GeneticVariation disease BEFREE Oral-facial-digital syndrome type 1 (OFDI; OFD1; OMIM 311200) is a rare developmental disorder transmitted as an X-linked dominant condition with embryonic male lethality. 19876934 2009
CUI: C2931426
Disease: Orofaciodigital syndrome type1
Orofaciodigital syndrome type1 		0.360 Biomarker disease BEFREE OFD1 is the gene responsible for the oral-facial-digital syndrome type 1, a cause of inherited cystic renal disease. 15466260 2004
CUI: C2931426
Disease: Orofaciodigital syndrome type1
Orofaciodigital syndrome type1 		0.360 Biomarker disease CTD_human