SPTAN1, spectrin alpha, non-erythrocytic 1, 6709

N. diseases: 82; N. variants: 20
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs143166100
rs143166100
Entrez Id: 6709
Gene Symbol: SPTAN1
SPTAN1
CUI: C0376532
Disease:
Epilepsy, Rolandic
G 0.700 CausalMutation CLINVAR Exome-wide analysis of mutational burden in patients with typical and atypical Rolandic epilepsy. 29358611 2018
dbSNP: rs1441152520
rs1441152520
Entrez Id: 6709
Gene Symbol: SPTAN1
SPTAN1
CUI: C0376532
Disease:
Epilepsy, Rolandic
G 0.700 CausalMutation CLINVAR Exome-wide analysis of mutational burden in patients with typical and atypical Rolandic epilepsy. 29358611 2018
dbSNP: rs1554759745
rs1554759745
Entrez Id: 6709
Gene Symbol: SPTAN1
SPTAN1
CUI: C0376532
Disease:
Epilepsy, Rolandic
A 0.700 CausalMutation CLINVAR Exome-wide analysis of mutational burden in patients with typical and atypical Rolandic epilepsy. 29358611 2018
dbSNP: rs569997507
rs569997507
Entrez Id: 6709
Gene Symbol: SPTAN1
SPTAN1
CUI: C0376532
Disease:
Epilepsy, Rolandic
T 0.700 CausalMutation CLINVAR Exome-wide analysis of mutational burden in patients with typical and atypical Rolandic epilepsy. 29358611 2018
dbSNP: rs780658554
rs780658554
Entrez Id: 6709
Gene Symbol: SPTAN1
SPTAN1
CUI: C0376532
Disease:
Epilepsy, Rolandic
T 0.700 CausalMutation CLINVAR Exome-wide analysis of mutational burden in patients with typical and atypical Rolandic epilepsy. 29358611 2018
dbSNP: rs587784440
rs587784440
Entrez Id: 6709
Gene Symbol: SPTAN1
SPTAN1
CUI: C0036572
Disease:
Seizures
GGGACCAGCT 0.700 CausalMutation CLINVAR SPTAN1 encephalopathy: distinct phenotypes and genotypes. 25631096 2015
dbSNP: rs587784440
rs587784440
Entrez Id: 6709
Gene Symbol: SPTAN1
SPTAN1
CUI: C0036572
Disease:
Seizures
GGGACCAGCT 0.700 CausalMutation CLINVAR Progressive diffuse brain atrophy in West syndrome with marked hypomyelination due to SPTAN1 gene mutation. 22656320 2013
dbSNP: rs1554769022
rs1554769022
Entrez Id: 6709
Gene Symbol: SPTAN1
SPTAN1
CUI: C3150731
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5
G 0.700 GeneticVariation CLINVAR
dbSNP: rs1554769099
rs1554769099
Entrez Id: 6709
Gene Symbol: SPTAN1
SPTAN1
CUI: C4552072
Disease:
X-linked infantile spasms
G 0.700 GeneticVariation CLINVAR
dbSNP: rs1554770453
rs1554770453
Entrez Id: 6709;89891
Gene Symbol: SPTAN1;WDR34
SPTAN1;WDR34
CUI: C0265275
Disease:
Jeune thoracic dystrophy
T 0.700 CausalMutation CLINVAR
dbSNP: rs1554770620
rs1554770620
Entrez Id: 6709;89891
Gene Symbol: SPTAN1;WDR34
SPTAN1;WDR34
CUI: C0036069
Disease:
Saldino-Noonan Syndrome
G 0.700 CausalMutation CLINVAR
dbSNP: rs1564197227
rs1564197227
Entrez Id: 6709
Gene Symbol: SPTAN1
SPTAN1
CUI: C3150731
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5
A 0.700 GeneticVariation CLINVAR
dbSNP: rs1564286708
rs1564286708
Entrez Id: 6709
Gene Symbol: SPTAN1
SPTAN1
CUI: C3150731
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5
T 0.700 CausalMutation CLINVAR
dbSNP: rs398122865
rs398122865
Entrez Id: 6709
Gene Symbol: SPTAN1
SPTAN1
CUI: C3150731
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5
A 0.700 CausalMutation CLINVAR
dbSNP: rs431905519
rs431905519
Entrez Id: 6709;89891
Gene Symbol: SPTAN1;WDR34
SPTAN1;WDR34
CUI: C3810200
Disease:
SHORT-RIB THORACIC DYSPLASIA 11 WITH OR WITHOUT POLYDACTYLY
C 0.700 CausalMutation CLINVAR
dbSNP: rs587784438
rs587784438
Entrez Id: 6709
Gene Symbol: SPTAN1
SPTAN1
CUI: C3150731
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5
C 0.700 CausalMutation CLINVAR
dbSNP: rs587784440
rs587784440
Entrez Id: 6709
Gene Symbol: SPTAN1
SPTAN1
CUI: C3150731
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5
GGGACCAGCT 0.700 CausalMutation CLINVAR
dbSNP: rs587784440
rs587784440
Entrez Id: 6709
Gene Symbol: SPTAN1
SPTAN1
CUI: C0014547
Disease:
Epilepsies, Partial
G 0.700 GeneticVariation CLINVAR
dbSNP: rs751323441
rs751323441
Entrez Id: 6709;89891
Gene Symbol: SPTAN1;WDR34
SPTAN1;WDR34
CUI: C0265275
Disease:
Jeune thoracic dystrophy
A 0.700 CausalMutation CLINVAR
dbSNP: rs77358650
rs77358650
Entrez Id: 6709
Gene Symbol: SPTAN1
SPTAN1
CUI: C4021085
Disease:
Abnormality of brain morphology
A 0.700 GeneticVariation CLINVAR
dbSNP: rs796053335
rs796053335
Entrez Id: 6709
Gene Symbol: SPTAN1
SPTAN1
CUI: C0543888
Disease:
Epileptic encephalopathy
GGCATGC 0.700 CausalMutation CLINVAR
dbSNP: rs776878433
rs776878433
Entrez Id: 6709
Gene Symbol: SPTAN1
SPTAN1
CUI: C0002736
Disease:
Amyotrophic Lateral Sclerosis
0.020 GeneticVariation BEFREE In this study, we tested the effects of human ASC conditional medium (ASC-CM) in human amyotrophic lateral sclerosis (ALS) transgenic mouse model expressing mutant superoxide dismutase (SOD1(G93A)). 26586020 2015
dbSNP: rs776878433
rs776878433
Entrez Id: 6709
Gene Symbol: SPTAN1
SPTAN1
CUI: C0002736
Disease:
Amyotrophic Lateral Sclerosis
0.020 GeneticVariation BEFREE We here investigated the level of activation of the Ca(2+)-dependent protease calpain-1 in spinal cord of SOD1(G93A) mice to ascertain a possible role of the protease in the aetiology of ALS. 25151305 2014
dbSNP: rs776878433
rs776878433
Entrez Id: 6709
Gene Symbol: SPTAN1
SPTAN1
CUI: C1136033
Disease:
Cutaneous Mastocytosis
0.010 GeneticVariation BEFREE Treating symptomatic SOD1(G93A) mice with ASC-CM significantly increased post-onset survival time and lifespan. 26586020 2015
dbSNP: rs370304886
rs370304886
Entrez Id: 6709
Gene Symbol: SPTAN1
SPTAN1
CUI: C3714756
Disease:
Intellectual Disability
0.010 GeneticVariation BEFREE We also found a de novo missense variant (p.R566P) of unclear clinical significance in a patient with non-syndromic ID. 22258530 2012