RAB40AL, RAB40A like, 282808

N. diseases: 18; N. variants: 1
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1845285
Disease: Martin-Probst Deafness-Mental Retardation Syndrome
Martin-Probst Deafness-Mental Retardation Syndrome 		0.600 Biomarker disease GENOMICS_ENGLAND Two‑gene mutation in a single patient: Biochemical and functional analysis for a correct interpretation of exome results. 26300074 2015
CUI: C1845285
Disease: Martin-Probst Deafness-Mental Retardation Syndrome
Martin-Probst Deafness-Mental Retardation Syndrome 		0.600 GeneticVariation disease UNIPROT Disruption of RAB40AL function leads to Martin--Probst syndrome, a rare X-linked multisystem neurodevelopmental human disorder. 22581972 2012
CUI: C1845285
Disease: Martin-Probst Deafness-Mental Retardation Syndrome
Martin-Probst Deafness-Mental Retardation Syndrome 		0.600 Biomarker disease CTD_human Disruption of RAB40AL function leads to Martin--Probst syndrome, a rare X-linked multisystem neurodevelopmental human disorder. 22581972 2012
CUI: C0009241
Disease: Cognition Disorders
Cognition Disorders 		0.300 Biomarker group CTD_human Disruption of RAB40AL function leads to Martin--Probst syndrome, a rare X-linked multisystem neurodevelopmental human disorder. 22581972 2012
CUI: C0018273
Disease: Growth Disorders
Growth Disorders 		0.300 Biomarker group CTD_human Disruption of RAB40AL function leads to Martin--Probst syndrome, a rare X-linked multisystem neurodevelopmental human disorder. 22581972 2012
CUI: C0282631
Disease: Facies
Facies 		0.300 Biomarker group CTD_human Disruption of RAB40AL function leads to Martin--Probst syndrome, a rare X-linked multisystem neurodevelopmental human disorder. 22581972 2012
CUI: C0376634
Disease: Craniofacial Abnormalities
Craniofacial Abnormalities 		0.300 Biomarker group CTD_human Disruption of RAB40AL function leads to Martin--Probst syndrome, a rare X-linked multisystem neurodevelopmental human disorder. 22581972 2012
CUI: C1136249
Disease: Mental Retardation, X-Linked
Mental Retardation, X-Linked 		0.300 Biomarker disease CTD_human Disruption of RAB40AL function leads to Martin--Probst syndrome, a rare X-linked multisystem neurodevelopmental human disorder. 22581972 2012
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
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		0.020 GeneticVariation disease 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
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.020 GeneticVariation group BEFREE Evidence against RAB40AL being the locus for Martin-Probst X-linked deafness-intellectual disability syndrome. 25044830 2014
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.020 GeneticVariation group BEFREE Mutation in the X-linked RAB40AL gene (Martin-Probst syndrome) with mental retardation, sensorineural hearing loss, and anomalies of the craniofacies and genitourinary tract: a second case report. 24863632 2014
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		0.020 Biomarker disease BEFREE Our results demonstrate an association between cognitive impairment and a defect in a signalling pathway that depends on a Ras-like GTPase. 9582072 1998
CUI: C0018775
Disease: Hearing Loss, Bilateral
Hearing Loss, Bilateral 		0.010 GeneticVariation disease 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
CUI: C0025362
Disease: Mental Retardation
Mental Retardation 		0.010 GeneticVariation disease BEFREE Mutation in the X-linked RAB40AL gene (Martin-Probst syndrome) with mental retardation, sensorineural hearing loss, and anomalies of the craniofacies and genitourinary tract: a second case report. 24863632 2014
CUI: C1535926
Disease: Neurodevelopmental Disorders
Neurodevelopmental Disorders 		0.010 GeneticVariation group 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
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.010 AlteredExpression disease BEFREE The results indicated that NXF3, rather than RAB40AL and BEX1, mRNA level was found to be more abundant in HCC tissue than in peritumoral liver tissue. 24209690 2013
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.010 Biomarker group BEFREE Significantly higher methylation frequency and level were observed for KIF1A and RARß2 in cancer samples compared with benign tumors. 22694820 2012
CUI: C0086692
Disease: Benign Neoplasm
Benign Neoplasm 		0.010 Biomarker group BEFREE Significantly higher methylation frequency and level were observed for KIF1A and RARß2 in cancer samples compared with benign tumors. 22694820 2012
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.010 Biomarker group BEFREE Significantly higher methylation frequency and level were observed for KIF1A and RARß2 in cancer samples compared with benign tumors. 22694820 2012
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne 		0.010 GeneticVariation disease BEFREE The Xq22 inversion breakpoint interrupted a novel Ras-like GTPase gene in a patient with Duchenne muscular dystrophy and profound mental retardation. 12145744 2002
CUI: C0020796
Disease: Profound Mental Retardation
Profound Mental Retardation 		0.010 Biomarker disease BEFREE We speculate that disruption of RLGP was responsible for the patient's profound mental retardation. 12145744 2002