SPTAN1, spectrin alpha, non-erythrocytic 1, 6709

N. diseases: 82; N. variants: 20
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0036572
Disease: Seizures
Seizures 		0.120 Biomarker phenotype BEFREE αII spectrin-deficient mice die before 1 month of age and have disrupted AIS and many other neurological impairments including seizures, disrupted cortical lamination, and widespread neurodegeneration. 29038240 2017
CUI: C0036572
Disease: Seizures
Seizures 		0.120 CausalMutation phenotype CLINVAR Progressive diffuse brain atrophy in West syndrome with marked hypomyelination due to SPTAN1 gene mutation. 22656320 2013
CUI: C0036572
Disease: Seizures
Seizures 		0.120 CausalMutation phenotype CLINVAR SPTAN1 encephalopathy: distinct phenotypes and genotypes. 25631096 2015
CUI: C0036572
Disease: Seizures
Seizures 		0.120 Biomarker phenotype HPO
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.020 AlteredExpression disease LHGDN Alterations in oligodendrocyte proteins, calcium homeostasis and new potential markers in schizophrenia anterior temporal lobe are revealed by shotgun proteome analysis. 19034380 2009
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.020 GeneticVariation disease BEFREE There is evidence that the Psh BI SPTAN1 gene polymorphism does not play a major role in the genetic component of schizophrenia. 10402491 1999
CUI: C1850456
Disease: Progressive microcephaly
Progressive microcephaly 		0.100 Biomarker phenotype HPO
CUI: C3161330
Disease: Profound intellectual disabilities
Profound intellectual disabilities 		0.100 Biomarker disease HPO
CUI: C0151449
Disease: Primary Sjögren's syndrome
Primary Sjögren's syndrome 		0.030 GeneticVariation disease BEFREE The frequency of alpha-fodrin autoantibodies detected by this method is similar in sera from primary SS patients and SLE patients with or without secondary SS. 12673889 2003
CUI: C0151449
Disease: Primary Sjögren's syndrome
Primary Sjögren's syndrome 		0.030 Biomarker disease BEFREE Analysis of in vivo role of alpha-fodrin autoantigen in primary Sjogren's syndrome. 16192640 2005
CUI: C0151449
Disease: Primary Sjögren's syndrome
Primary Sjögren's syndrome 		0.030 Biomarker disease BEFREE IgG antibodies to a cleavage product of alpha-fodrin (120 kDa alpha-fodrin) have recently been identified as organ-specific autoantibodies in primary Sjögren's syndrome. 9856838 1998
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.030 AlteredExpression group BEFREE Nine cancer cell lines as well as fresh and paraffin embedded colon cancer tissue from 12 patients were used in gene expression studies of SPTAN1 and MLH1. 24456667 2014
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.030 Biomarker group BEFREE This review summarizes the current knowledge on SPTAN1 in cancer and depicts several mechanisms by which SPTAN1 could impact tumor development and aggressiveness. 31186638 2019
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.030 Biomarker group BEFREE The detailed analysis of SPTAN1 is now mandatory to substantiate its relevance and its potential value as a candidate protein for targeted therapy, and as a predictive marker of cancer aggressiveness. 30856214 2019
CUI: C0235025
Disease: Peripheral motor neuropathy
Peripheral motor neuropathy 		0.010 GeneticVariation disease BEFREE Nonsense mutations in alpha-II spectrin in three families with juvenile onset hereditary motor neuropathy. 31332438 2019
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders 		0.300 Biomarker group CTD_human Initial biological qualification of SBDP-145 as a biomarker of compound-induced neurodegeneration in the rat. 25015659 2014
CUI: C0027765
Disease: nervous system disorder
nervous system disorder 		0.010 GeneticVariation group BEFREE Furthermore, human αII spectrin loss-of-function variants cause neurological disease. 31064843 2019
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.020 AlteredExpression group BEFREE The observed weakened cell-cell contact of SPTAN1 knockdown cells might indicate that tumor cells expressing low levels of SPTAN1 detach from their primary tumor and metastasize more easily. 30856214 2019
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.020 Biomarker group BEFREE Due to SPTAN1's multifaceted functions and its role in adhesion and migration, SPTAN1 can influence tumor growth and progression in both positive and negative directions depending on its specific regulation. 31186638 2019
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		0.020 Biomarker phenotype BEFREE In the current study, the interaction of MLH1 and SPTAN1 and its potential consequences for CRC metastasis was evaluated. 24456667 2014
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		0.020 Biomarker phenotype BEFREE Here, we report that MLH1-deficient CRCs exhibit reduced levels of the cytoskeletal scaffolding protein non-erythroid spectrin αII (SPTAN1), and that tumor progression and metastasis of CRCs correlate with SPTAN1 levels. 30856214 2019
CUI: C0409979
Disease: Neonatal Systemic lupus erythematosus
Neonatal Systemic lupus erythematosus 		0.010 Biomarker disease BEFREE We propose that maternal antibodies to 120 kDa alpha-fodrin may be an additional serologic marker for the risk of NLE in anti-Ro/SS-A positive women. 9856838 1998
CUI: C0026848
Disease: Myopathy
Myopathy 		0.010 AlteredExpression group LHGDN These observations indicate that calpain is activated and reacts with alpha-fodrin as a substrate at the sarcolemma, and plays a key role in modulating sarcolemmal proteins to adapt to the specific conditions in each myopathy. 15948206 2005
CUI: C0027066
Disease: Myoclonus
Myoclonus 		0.100 Biomarker phenotype HPO
CUI: C4317123
Disease: Myoclonic Seizures
Myoclonic Seizures 		0.010 GeneticVariation phenotype BEFREE This patient is the second reported case with 9q33.3-q34.11 deletion involving STXBP1 and SPTAN1 genes associated with epileptic encephalopathy and myoclonic seizures. 29897043 2018