LMBR1, limb development membrane protein 1, 64327

N. diseases: 98; N. variants: 11
Disease: Acheiropodia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0265559
Disease: Acheiropodia
Acheiropodia 		0.820 GeneticVariation disease BEFREE These include a patient with hypoplastic phalanges and absent hallux bilaterally with de novo deletion of 11.9 Mb on 7p21.1-22.1 spanning 63 genes including RAC1, another patient with severe Holt-Oram syndrome and a large de novo deletion 2.2 Mb on 12q24.13-24.21 spanning 20 genes including TBX3 and TBX5, and a third patient with acheiropodia who had a nullizygous deletion of 102 kb on 7q36.3 spanning LMBR1. 26749485 2016
CUI: C0265559
Disease: Acheiropodia
Acheiropodia 		0.820 GermlineCausalMutation disease ORPHANET Given the nature of the acheiropodia phenotype, it appears likely that the Lmbr1 gene plays an important role in limb development. 11090342 2001
CUI: C0265559
Disease: Acheiropodia
Acheiropodia 		0.820 Biomarker disease GENOMICS_ENGLAND Given the nature of the acheiropodia phenotype, it appears likely that the Lmbr1 gene plays an important role in limb development. 11090342 2001
CUI: C0265559
Disease: Acheiropodia
Acheiropodia 		0.820 GeneticVariation disease BEFREE Analysis of C7orf2, the human orthologue of the mouse Lmbr1 gene, identified a deletion in all five families, thus identifying a common acheiropodia mutation. 11090342 2001
CUI: C0265559
Disease: Acheiropodia
Acheiropodia 		0.820 Biomarker disease MGD Reciprocal mouse and human limb phenotypes caused by gain- and loss-of-function mutations affecting Lmbr1. 11606546 2001
CUI: C0265559
Disease: Acheiropodia
Acheiropodia 		0.820 Biomarker disease CTD_human