LMBR1, limb development membrane protein 1, 64327

N. diseases: 98; N. variants: 11
Disease: Tibia, Hypoplasia of, with Polydactyly ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1861098
Disease: Tibia, Hypoplasia of, with Polydactyly
Tibia, Hypoplasia of, with Polydactyly 		0.400 CausalMutation disease CLINVAR
CUI: C1861098
Disease: Tibia, Hypoplasia of, with Polydactyly
Tibia, Hypoplasia of, with Polydactyly 		0.400 Biomarker disease GENOMICS_ENGLAND Acheiropodia is caused by a genomic deletion in C7orf2, the human orthologue of the Lmbr1 gene. 11090342 2001