Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs869312702
rs869312702
DNM1 ; CIZ1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs869312702
rs869312702
DNM1 ; CIZ1
CUI: C0036572
Disease: Seizures
Seizures 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs869312702
rs869312702
DNM1 ; CIZ1
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs869312702
rs869312702
DNM1 ; CIZ1
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs869312702
rs869312702
DNM1 ; CIZ1
CUI: C0036572
Disease: Seizures
Seizures 		A 0.700 CausalMutation CLINVAR

dbSNP: rs869312702
rs869312702
DNM1 ; CIZ1
CUI: C0241210
Disease: Speech Delay
Speech Delay 		A 0.700 CausalMutation CLINVAR

dbSNP: rs869312702
rs869312702
DNM1 ; CIZ1
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		A 0.700 CausalMutation CLINVAR

dbSNP: rs869312702
rs869312702
DNM1 ; CIZ1
CUI: C4225357
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 31
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 31 		A 0.700 CausalMutation CLINVAR

dbSNP: rs869312702
rs869312702
DNM1 ; CIZ1
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs869312702
rs869312702
DNM1 ; CIZ1
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		A 0.700 CausalMutation CLINVAR

dbSNP: rs869312702
rs869312702
DNM1 ; CIZ1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		A 0.700 CausalMutation CLINVAR

dbSNP: rs869312702
rs869312702
DNM1 ; CIZ1
CUI: C0038273
Disease: Stereotypic Movement Disorder
Stereotypic Movement Disorder 		A 0.700 GeneticVariation CLINVAR