RAB40AL, RAB40A like, 282808

N. diseases: 18; N. variants: 1
Disease: Deafness and intellectual disability Martin Probst type syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4303594
Disease: Deafness and intellectual disability Martin Probst type syndrome
Deafness and intellectual disability Martin Probst type syndrome 		0.040 GeneticVariation phenotype BEFREE Whereas evidence against the pathogenic role of p.D59G has been published, the presence of RAB40AL p.D59G continues to be used as a support for MPS diagnosis. 25370018 2015
CUI: C4303594
Disease: Deafness and intellectual disability Martin Probst type syndrome
Deafness and intellectual disability Martin Probst type syndrome 		0.040 GeneticVariation phenotype BEFREE We herein present an unrelated 20-year-old male with similar manifestations also with p.D59G in the RAB40AL gene, which supports the existence of this condition previously coined as Martin-Probst syndrome (OMIM: 300519). 24863632 2014
CUI: C4303594
Disease: Deafness and intellectual disability Martin Probst type syndrome
Deafness and intellectual disability Martin Probst type syndrome 		0.040 Biomarker phenotype BEFREE Our data question the role of RAB40AL mutation as a disease-causing change and the involvement of RAB40AL in MPS. 25044830 2014
CUI: C4303594
Disease: Deafness and intellectual disability Martin Probst type syndrome
Deafness and intellectual disability Martin Probst type syndrome 		0.040 GeneticVariation phenotype BEFREE Massively parallel sequencing in two affected, related male subjects with MPS identified a RAB40AL (also called RLGP) missense mutation (chrX:102,079,078-102,079,079AC→GA p.D59G; hg18). 22581972 2012