Source: GENOMICS_ENGLAND

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 51360
Gene Symbol: MBTPS2
MBTPS2
CUI: C0152427
Disease: Polydactyly
Polydactyly 		0.300 Biomarker GENOMICS_ENGLAND Brain anomalies, retardation of mentality and growth, ectodermal dysplasia, skeletal malformations, Hirschsprung disease, ear deformity and deafness, eye hypoplasia, cleft palate, cryptorchidism, and kidney dysplasia/hypoplasia (BRESEK/BRESHECK): new X-linked syndrome? 9021007

1997