rs1554504663, RHOBTB2

N. diseases: 11
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
2-3 toe syndactyly
CUI: C4551570
Disease: 2-3 toe syndactyly
0.700 GeneticVariation CLINVAR
Movement Disorders
CUI: C0026650
Disease: Movement Disorders
0.700 GeneticVariation CLINVAR
Acid reflux
CUI: C4317146
Disease: Acid reflux
0.700 GeneticVariation CLINVAR
Constipation
CUI: C0009806
Disease: Constipation
0.700 GeneticVariation CLINVAR
Port-Wine Stain
CUI: C0235752
Disease: Port-Wine Stain
0.700 GeneticVariation CLINVAR
Central hypotonia
CUI: C1842364
Disease: Central hypotonia
0.700 GeneticVariation CLINVAR
Seizures
CUI: C0036572
Disease: Seizures
0.700 GeneticVariation CLINVAR
Dystonia
CUI: C0013421
Disease: Dystonia
0.700 GeneticVariation CLINVAR
Cafe-au-Lait Spots
CUI: C0221263
Disease: Cafe-au-Lait Spots
0.700 GeneticVariation CLINVAR
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
0.700 GeneticVariation CLINVAR