LMBR1, limb development membrane protein 1, 64327

N. diseases: 98; N. variants: 11
Disease: Syndactyly, Type IV ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1861355
Disease: Syndactyly, Type IV
Syndactyly, Type IV 		0.610 GermlineCausalMutation disease ORPHANET Microduplications encompassing the Sonic hedgehog limb enhancer ZRS are associated with Haas-type polysyndactyly and Laurin-Sandrow syndrome. 24456159 2014
CUI: C1861355
Disease: Syndactyly, Type IV
Syndactyly, Type IV 		0.610 Biomarker disease GENOMICS_ENGLAND Acheiropodia is caused by a genomic deletion in C7orf2, the human orthologue of the Lmbr1 gene. 11090342 2001
CUI: C1861355
Disease: Syndactyly, Type IV
Syndactyly, Type IV 		0.610 GeneticVariation disease BEFREE These findings support our conclusion that TPTPS, PPD2 (and/or PPD3), and Haas-type syndactyly are a single genetic en-tity (THPTTS). 10869115 2000
CUI: C1861355
Disease: Syndactyly, Type IV
Syndactyly, Type IV 		0.610 Biomarker disease CTD_human