rs869312702, CIZ1;DNM1

N. diseases: 10
Source: INFERRED ×
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
0.700 CausalMutation CLINVAR
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
0.700 GeneticVariation CLINVAR
Large head (disorder)
CUI: C2243051
Disease: Large head (disorder)
0.700 CausalMutation CLINVAR
Seizures
CUI: C0036572
Disease: Seizures
0.700 GeneticVariation CLINVAR
Seizures
CUI: C0036572
Disease: Seizures
0.700 CausalMutation CLINVAR
Moderate intellectual disability
CUI: C0026351
Disease: Moderate intellectual disability
0.700 CausalMutation CLINVAR
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
0.700 GeneticVariation CLINVAR
Stereotypic Movement Disorder
CUI: C0038273
Disease: Stereotypic Movement Disorder
0.700 GeneticVariation CLINVAR
Speech Delay
CUI: C0241210
Disease: Speech Delay
0.700 CausalMutation CLINVAR
Cerebellar Ataxia
CUI: C0007758
Disease: Cerebellar Ataxia
0.700 GeneticVariation CLINVAR
Epileptic encephalopathy
CUI: C0543888
Disease: Epileptic encephalopathy
0.700 GeneticVariation CLINVAR
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 31
CUI: C4225357
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 31
0.700 CausalMutation CLINVAR