Disease: WARBURG MICRO SYNDROME 2 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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
CUI: C3280214
Disease: WARBURG MICRO SYNDROME 2
WARBURG MICRO SYNDROME 2 		0.400 GeneticVariation disease CLINVAR Mutation spectrum in RAB3GAP1, RAB3GAP2, and RAB18 and genotype-phenotype correlations in warburg micro syndrome and Martsolf syndrome. 23420520 2013
CUI: C3280214
Disease: WARBURG MICRO SYNDROME 2
WARBURG MICRO SYNDROME 2 		0.400 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: C3280214
Disease: WARBURG MICRO SYNDROME 2
WARBURG MICRO SYNDROME 2 		0.400 CausalMutation disease CLINVAR A homozygous RAB3GAP2 mutation causes Warburg Micro syndrome. 20967465 2011
CUI: C3280214
Disease: WARBURG MICRO SYNDROME 2
WARBURG MICRO SYNDROME 2 		0.400 Biomarker disease GENOMICS_ENGLAND A homozygous RAB3GAP2 mutation causes Warburg Micro syndrome. 20967465 2011
CUI: C3280214
Disease: WARBURG MICRO SYNDROME 2
WARBURG MICRO SYNDROME 2 		0.400 Biomarker disease GENOMICS_ENGLAND Mutation in Rab3 GTPase-activating protein (RAB3GAP) noncatalytic subunit in a kindred with Martsolf syndrome. 16532399 2006