Source: CURATED

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6709
Gene Symbol: SPTAN1
SPTAN1
CUI: C3150731
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5 		0.610 Biomarker GENOMICS_ENGLAND Dominant-negative mutations in alpha-II spectrin cause West syndrome with severe cerebral hypomyelination, spastic quadriplegia, and developmental delay. 20493457

2010
Entrez Id: 6709
Gene Symbol: SPTAN1
SPTAN1
CUI: C3150731
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5 		0.610 Biomarker CTD_human

Entrez Id: 6709
Gene Symbol: SPTAN1
SPTAN1
CUI: C3150731
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5 		0.610 Biomarker GENOMICS_ENGLAND

Entrez Id: 6709
Gene Symbol: SPTAN1
SPTAN1
CUI: C0037769
Disease: West Syndrome
West Syndrome 		0.460 GermlineCausalMutation ORPHANET Genes of early-onset epileptic encephalopathies: from genotype to phenotype. 22196487

2012
Entrez Id: 6709
Gene Symbol: SPTAN1
SPTAN1
CUI: C0037769
Disease: West Syndrome
West Syndrome 		0.460 GermlineCausalMutation ORPHANET Early onset West syndrome with cerebral hypomyelination and reduced cerebral white matter. 18065176

2008
Entrez Id: 6709
Gene Symbol: SPTAN1
SPTAN1
CUI: C0023893
Disease: Liver Cirrhosis, Experimental
Liver Cirrhosis, Experimental 		0.300 Biomarker CTD_human Systems level analysis and identification of pathways and networks associated with liver fibrosis. 25380136

2014
Entrez Id: 6709
Gene Symbol: SPTAN1
SPTAN1
CUI: C0270715
Disease: Degenerative Diseases, Central Nervous System
Degenerative Diseases, Central Nervous System 		0.300 Biomarker CTD_human Initial biological qualification of SBDP-145 as a biomarker of compound-induced neurodegeneration in the rat. 25015659

2014
Entrez Id: 6709
Gene Symbol: SPTAN1
SPTAN1
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders 		0.300 Biomarker CTD_human Initial biological qualification of SBDP-145 as a biomarker of compound-induced neurodegeneration in the rat. 25015659

2014
Entrez Id: 6709
Gene Symbol: SPTAN1
SPTAN1
CUI: C0751733
Disease: Degenerative Diseases, Spinal Cord
Degenerative Diseases, Spinal Cord 		0.300 Biomarker CTD_human Initial biological qualification of SBDP-145 as a biomarker of compound-induced neurodegeneration in the rat. 25015659

2014
Entrez Id: 6709
Gene Symbol: SPTAN1
SPTAN1
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.300 GeneticVariation UNIPROT