rs387907260, KCTD7

N. diseases: 22
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
EPILEPSY, PROGRESSIVE MYOCLONIC 3
CUI: C2673257
Disease: EPILEPSY, PROGRESSIVE MYOCLONIC 3
0.800 GeneticVariation UNIPROT A homozygous mutation in KCTD7 links neuronal ceroid lipofuscinosis to the ubiquitin-proteasome system. 22748208 2012
EPILEPSY, PROGRESSIVE MYOCLONIC 3
CUI: C2673257
Disease: EPILEPSY, PROGRESSIVE MYOCLONIC 3
0.800 GeneticVariation UNIPROT Targeted next generation sequencing as a diagnostic tool in epileptic disorders. 22612257 2012
EPILEPSY, PROGRESSIVE MYOCLONIC 3
CUI: C2673257
Disease: EPILEPSY, PROGRESSIVE MYOCLONIC 3
0.800 GeneticVariation UNIPROT Novel mutation in potassium channel related gene KCTD7 and progressive myoclonic epilepsy. 22606975 2012
EPILEPSY, PROGRESSIVE MYOCLONIC 3
CUI: C2673257
Disease: EPILEPSY, PROGRESSIVE MYOCLONIC 3
0.800 GeneticVariation UNIPROT Novel mutations consolidate KCTD7 as a progressive myoclonus epilepsy gene. 22693283 2012
EPILEPSY, PROGRESSIVE MYOCLONIC 3
CUI: C2673257
Disease: EPILEPSY, PROGRESSIVE MYOCLONIC 3
0.800 GeneticVariation UNIPROT Mutation of a potassium channel-related gene in progressive myoclonic epilepsy. 17455289 2007
EPILEPSY, PROGRESSIVE MYOCLONIC 3
CUI: C2673257
Disease: EPILEPSY, PROGRESSIVE MYOCLONIC 3
0.800 CausalMutation CLINVAR
EPILEPSY, PROGRESSIVE MYOCLONIC 3
CUI: C2673257
Disease: EPILEPSY, PROGRESSIVE MYOCLONIC 3
0.800 GeneticVariation CLINVAR
Loss of speech
CUI: C0542223
Disease: Loss of speech
0.700 GeneticVariation CLINVAR
Decreased palmar creases
CUI: C1857483
Disease: Decreased palmar creases
0.700 GeneticVariation CLINVAR
Gastrostomy tube feeding in infancy
CUI: C4023342
Disease: Gastrostomy tube feeding in infancy
0.700 GeneticVariation CLINVAR
Synophrys
CUI: C0431447
Disease: Synophrys
0.700 GeneticVariation CLINVAR
Short stature
CUI: C0349588
Disease: Short stature
0.700 GeneticVariation CLINVAR
Hypoplastic feet
CUI: C1848673
Disease: Hypoplastic feet
0.700 GeneticVariation CLINVAR
Generalized myoclonic seizures
CUI: C4021759
Disease: Generalized myoclonic seizures
0.700 GeneticVariation CLINVAR
Flexion contracture
CUI: C0333068
Disease: Flexion contracture
0.700 GeneticVariation CLINVAR
Byzanthine arch palate
CUI: C0240635
Disease: Byzanthine arch palate
0.700 GeneticVariation CLINVAR
Nevus flammeus nuchae
CUI: C4024829
Disease: Nevus flammeus nuchae
0.700 GeneticVariation CLINVAR
Seizures
CUI: C0036572
Disease: Seizures
0.700 GeneticVariation CLINVAR
Loss of ability to walk
CUI: C1849097
Disease: Loss of ability to walk
0.700 GeneticVariation CLINVAR
Nevus flammeus of the forehead
CUI: C1848850
Disease: Nevus flammeus of the forehead
0.700 GeneticVariation CLINVAR
Downward slant of palpebral fissure
CUI: C0423110
Disease: Downward slant of palpebral fissure
0.700 GeneticVariation CLINVAR
Deglutition Disorders
CUI: C0011168
Disease: Deglutition Disorders
0.700 GeneticVariation CLINVAR
Deep palmar crease
CUI: C1857539
Disease: Deep palmar crease
0.700 GeneticVariation CLINVAR
Developmental regression
CUI: C1836830
Disease: Developmental regression
0.700 GeneticVariation CLINVAR
Short nose
CUI: C1854114
Disease: Short nose
0.700 GeneticVariation CLINVAR