POC1A, POC1 centriolar protein A, 25886

N. diseases: 59; N. variants: 3
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP Q ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3808988
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP Q
FANCONI ANEMIA, COMPLEMENTATION GROUP Q 		0.300 Biomarker disease GENOMICS_ENGLAND A distinctive autosomal recessive syndrome of severe disproportionate short stature with short long bones, brachydactyly, and hypotrichosis in two consanguineous Arab families. 22440536 2012