Source: BEFREE ×
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Deafness and intellectual disability Martin Probst type syndrome
CUI: C4303594
Disease: Deafness and intellectual disability Martin Probst type syndrome
0.040 GeneticVariation BEFREE A note of caution on the diagnosis of Martin-Probst syndrome by the detection of the p.D59G mutation in the RAB40AL gene. 25370018 2015
Deafness and intellectual disability Martin Probst type syndrome
CUI: C4303594
Disease: Deafness and intellectual disability Martin Probst type syndrome
0.040 GeneticVariation 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
Deafness and intellectual disability Martin Probst type syndrome
CUI: C4303594
Disease: Deafness and intellectual disability Martin Probst type syndrome
0.040 GeneticVariation BEFREE We found the p.D59G variant by whole-exome sequencing in two patients; however, the diagnosis of MPS was excluded in both cases. 25044830 2014
Deafness and intellectual disability Martin Probst type syndrome
CUI: C4303594
Disease: Deafness and intellectual disability Martin Probst type syndrome
0.040 GeneticVariation 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
Impaired cognition
CUI: C0338656
Disease: Impaired cognition
0.010 GeneticVariation BEFREE Our findings are inconsistent with a causative effect of RAB40AL p.D59G on cognitive impairment combined with severe to profound bilateral hearing loss but indicate that p.D59G is a common genetic variation. 25370018 2015
Hearing Loss, Bilateral
CUI: C0018775
Disease: Hearing Loss, Bilateral
0.010 GeneticVariation BEFREE Our findings are inconsistent with a causative effect of RAB40AL p.D59G on cognitive impairment combined with severe to profound bilateral hearing loss but indicate that p.D59G is a common genetic variation. 25370018 2015
Neurodevelopmental Disorders
CUI: C1535926
Disease: Neurodevelopmental Disorders
0.010 GeneticVariation BEFREE An X-linked neurodevelopmental disorder previously had been reported in only one family, associated with a p.D59G mutation in the RAB40AL gene that encodes a mitochondrial Ras protein. 24863632 2014