Source: GENOMICS_ENGLAND

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 9851
Gene Symbol: KIAA0753
KIAA0753
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.430 Biomarker GENOMICS_ENGLAND KIAA0753 (OFIP) is a centrosome and pericentriolar satellite protein, previously not known to cause Joubert syndrome. 28220259

2017
Entrez Id: 9851
Gene Symbol: KIAA0753
KIAA0753
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.430 Biomarker GENOMICS_ENGLAND 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