rs1554504663, RHOBTB2

N. diseases: 11
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 64 ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 64
CUI: C4693899
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 64
0.800 GeneticVariation UNIPROT Missense Variants in RHOBTB2 Cause a Developmental and Epileptic Encephalopathy in Humans, and Altered Levels Cause Neurological Defects in Drosophila. 29276004 2018
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 64
CUI: C4693899
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 64
0.800 GeneticVariation UNIPROT De novo variants in RHOBTB2, an atypical Rho GTPase gene, cause epileptic encephalopathy. 29768694 2018
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 64
CUI: C4693899
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 64
0.800 CausalMutation CLINVAR De novo variants in RHOBTB2, an atypical Rho GTPase gene, cause epileptic encephalopathy. 29768694 2018
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 64
CUI: C4693899
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 64
0.800 CausalMutation CLINVAR Missense Variants in RHOBTB2 Cause a Developmental and Epileptic Encephalopathy in Humans, and Altered Levels Cause Neurological Defects in Drosophila. 29276004 2018
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 64
CUI: C4693899
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 64
0.800 GeneticVariation CLINVAR