LMBR1, limb development membrane protein 1, 64327

N. diseases: 98; N. variants: 11
Disease: LAURIN-SANDROW SYNDROME ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1851100
Disease: LAURIN-SANDROW SYNDROME
LAURIN-SANDROW SYNDROME 		0.700 GermlineCausalMutation disease ORPHANET Microduplications encompassing the Sonic hedgehog limb enhancer ZRS are associated with Haas-type polysyndactyly and Laurin-Sandrow syndrome. 24456159 2014
CUI: C1851100
Disease: LAURIN-SANDROW SYNDROME
LAURIN-SANDROW SYNDROME 		0.700 Biomarker disease GENOMICS_ENGLAND Acheiropodia is caused by a genomic deletion in C7orf2, the human orthologue of the Lmbr1 gene. 11090342 2001
CUI: C1851100
Disease: LAURIN-SANDROW SYNDROME
LAURIN-SANDROW SYNDROME 		0.700 Biomarker disease HPO
CUI: C1851100
Disease: LAURIN-SANDROW SYNDROME
LAURIN-SANDROW SYNDROME 		0.700 Biomarker disease CTD_human