Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0796037
Disease: Martsolf syndrome
Martsolf syndrome 		0.740 GeneticVariation disease BEFREE Case report of four siblings in southeast Turkey with a novel RAB3GAP2 splice site mutation: Warburg micro syndrome or Martsolf syndrome? 29419336 2018
CUI: C0796037
Disease: Martsolf syndrome
Martsolf syndrome 		0.740 CausalMutation disease CLINVAR Rab18 and a Rab18 GEF complex are required for normal ER structure. 24891604 2014
CUI: C0796037
Disease: Martsolf syndrome
Martsolf syndrome 		0.740 GermlineCausalMutation disease ORPHANET Mutation spectrum in RAB3GAP1, RAB3GAP2, and RAB18 and genotype-phenotype correlations in warburg micro syndrome and Martsolf syndrome. 23420520 2013
CUI: C0796037
Disease: Martsolf syndrome
Martsolf syndrome 		0.740 Biomarker disease GENOMICS_ENGLAND Mutation spectrum in RAB3GAP1, RAB3GAP2, and RAB18 and genotype-phenotype correlations in warburg micro syndrome and Martsolf syndrome. 23420520 2013
CUI: C0796037
Disease: Martsolf syndrome
Martsolf syndrome 		0.740 CausalMutation disease CLINVAR Mutation spectrum in RAB3GAP1, RAB3GAP2, and RAB18 and genotype-phenotype correlations in warburg micro syndrome and Martsolf syndrome. 23420520 2013
CUI: C0796037
Disease: Martsolf syndrome
Martsolf syndrome 		0.740 GeneticVariation disease BEFREE Martsolf syndrome has been associated with a mutation in RAB3GAP2. 23176487 2012
CUI: C0796037
Disease: Martsolf syndrome
Martsolf syndrome 		0.740 GeneticVariation disease BEFREE In conclusion, we provide evidence that RAB3GAP2 mutations are not specific to Martsolf syndrome. 20967465 2011
CUI: C0796037
Disease: Martsolf syndrome
Martsolf syndrome 		0.740 Biomarker disease GENOMICS_ENGLAND In conclusion, we provide evidence that RAB3GAP2 mutations are not specific to Martsolf syndrome. 20967465 2011
CUI: C0796037
Disease: Martsolf syndrome
Martsolf syndrome 		0.740 GeneticVariation disease UNIPROT We identified a homozygous missense mutation in the noncatalytic subunit (RAB3GAP2) of RAB3GAP that results in abnormal splicing in a family with congenital cataracts, hypogonadism, and mild mental retardation (Martsolf syndrome). 16532399 2006
CUI: C0796037
Disease: Martsolf syndrome
Martsolf syndrome 		0.740 Biomarker disease GENOMICS_ENGLAND We identified a homozygous missense mutation in the noncatalytic subunit (RAB3GAP2) of RAB3GAP that results in abnormal splicing in a family with congenital cataracts, hypogonadism, and mild mental retardation (Martsolf syndrome). 16532399 2006
CUI: C0796037
Disease: Martsolf syndrome
Martsolf syndrome 		0.740 GeneticVariation disease BEFREE We identified a homozygous missense mutation in the noncatalytic subunit (RAB3GAP2) of RAB3GAP that results in abnormal splicing in a family with congenital cataracts, hypogonadism, and mild mental retardation (Martsolf syndrome). 16532399 2006
CUI: C0796037
Disease: Martsolf syndrome
Martsolf syndrome 		0.740 Biomarker disease CTD_human
CUI: C0796037
Disease: Martsolf syndrome
Martsolf syndrome 		0.740 GeneticVariation disease CLINVAR
CUI: C0796037
Disease: Martsolf syndrome
Martsolf syndrome 		0.740 Biomarker disease GENOMICS_ENGLAND
CUI: C1838625
Disease: Warburg Sjo Fledelius syndrome
Warburg Sjo Fledelius syndrome 		0.650 GeneticVariation disease BEFREE Case report of four siblings in southeast Turkey with a novel RAB3GAP2 splice site mutation: Warburg micro syndrome or Martsolf syndrome? 29419336 2018
CUI: C1838625
Disease: Warburg Sjo Fledelius syndrome
Warburg Sjo Fledelius syndrome 		0.650 GermlineCausalMutation disease ORPHANET Mutation spectrum in RAB3GAP1, RAB3GAP2, and RAB18 and genotype-phenotype correlations in warburg micro syndrome and Martsolf syndrome. 23420520 2013
CUI: C1838625
Disease: Warburg Sjo Fledelius syndrome
Warburg Sjo Fledelius syndrome 		0.650 Biomarker disease BEFREE Based on the function of TBC1D20 as a RABGAP and the bs cataract and testicular phenotypes, we hypothesized that mutations in TBC1D20 may contribute to Warburg micro syndrome (WARBM); WARBM constitutes a spectrum of disorders characterized by eye, brain, and endocrine abnormalities caused by mutations in RAB3GAP1, RAB3GAP2, and RAB18. 24239381 2013
CUI: C1838625
Disease: Warburg Sjo Fledelius syndrome
Warburg Sjo Fledelius syndrome 		0.650 Biomarker disease GENOMICS_ENGLAND Mutation spectrum in RAB3GAP1, RAB3GAP2, and RAB18 and genotype-phenotype correlations in warburg micro syndrome and Martsolf syndrome. 23420520 2013
CUI: C1838625
Disease: Warburg Sjo Fledelius syndrome
Warburg Sjo Fledelius syndrome 		0.650 GeneticVariation disease BEFREE Rather, our findings suggest that loss-of-function mutations of RAB3GAP1 as well as functionally severe RAB3GAP2 mutations cause Warburg Micro syndrome while hypomorphic RAB3GAP2 mutations can result in the milder Martsolf phenotype. 20967465 2011
CUI: C1838625
Disease: Warburg Sjo Fledelius syndrome
Warburg Sjo Fledelius syndrome 		0.650 Biomarker disease BEFREE Recently mutations in the catalytic subunit p130 and the noncatalytic subunit p150 of Rab3 GTPase-activating protein were found to cause Warburg Micro syndrome and Martsolf syndrome, respectively, both of which exhibit mental retardation. 18413245 2008
CUI: C1838625
Disease: Warburg Sjo Fledelius syndrome
Warburg Sjo Fledelius syndrome 		0.650 GeneticVariation disease BEFREE However, we did not detect RAB3GAP2 mutations in patients with Warburg micro syndrome. 16532399 2006
CUI: C1838625
Disease: Warburg Sjo Fledelius syndrome
Warburg Sjo Fledelius syndrome 		0.650 Biomarker disease CTD_human
CUI: C3280214
Disease: WARBURG MICRO SYNDROME 2
WARBURG MICRO SYNDROME 2 		0.400 Biomarker disease GENOMICS_ENGLAND Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders. 24482476 2014
CUI: C3280214
Disease: WARBURG MICRO SYNDROME 2
WARBURG MICRO SYNDROME 2 		0.400 Biomarker disease GENOMICS_ENGLAND Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders. 24482476 2014
CUI: C3280214
Disease: WARBURG MICRO SYNDROME 2
WARBURG MICRO SYNDROME 2 		0.400 CausalMutation disease CLINVAR Mutation spectrum in RAB3GAP1, RAB3GAP2, and RAB18 and genotype-phenotype correlations in warburg micro syndrome and Martsolf syndrome. 23420520 2013