CAST, calpastatin, 831

N. diseases: 141; N. variants: 31
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4225381
Disease: PEELING SKIN WITH LEUKONYCHIA, ACRAL PUNCTATE KERATOSES, CHEILITIS, AND KNUCKLE PADS
PEELING SKIN WITH LEUKONYCHIA, ACRAL PUNCTATE KERATOSES, CHEILITIS, AND KNUCKLE PADS 		0.720 CausalMutation disease CLINVAR
CUI: C4225381
Disease: PEELING SKIN WITH LEUKONYCHIA, ACRAL PUNCTATE KERATOSES, CHEILITIS, AND KNUCKLE PADS
PEELING SKIN WITH LEUKONYCHIA, ACRAL PUNCTATE KERATOSES, CHEILITIS, AND KNUCKLE PADS 		0.720 Biomarker disease CTD_human
CUI: C0085661
Disease: Onycholysis
Onycholysis 		0.100 Biomarker disease HPO
CUI: C0221237
Disease: Angular cheilitis
Angular cheilitis 		0.100 Biomarker disease HPO
CUI: C0221270
Disease: Acanthosis
Acanthosis 		0.100 Biomarker phenotype HPO
CUI: C0237849
Disease: Peeling of skin
Peeling of skin 		0.100 Biomarker phenotype HPO
CUI: C0240182
Disease: Leukonychia
Leukonychia 		0.100 Biomarker phenotype HPO
CUI: C4551675
Disease: Keratoderma, Palmoplantar
Keratoderma, Palmoplantar 		0.100 Biomarker disease HPO
CUI: C0007786
Disease: Brain Ischemia
Brain Ischemia 		0.200 Biomarker disease RGD 3-[2-[4-(3-Chloro-2-methylphenylmethyl)-1-piperazinyl]ethyl]-5,6-dimethoxy-1-(4-imidazolylmethyl)-1H-indazole dihydro-chloride 3.5 hydrate (DY-9760e) is neuroprotective in rat microsphere embolism: role of the cross-talk between calpain and caspase-3 through calpastatin. 16467455 2006
CUI: C0011389
Disease: Dental Plaque
Dental Plaque 		0.010 Biomarker phenotype BEFREE Plaque pathology is not evident even when Aβ1-42 is increased by pharmacological manipulation (using calpain inhibitor 1), indicating that soluble Aβ species, or other APP processing products, are sufficient to cause the initial synaptic changes. 27287430 2016
CUI: C0333463
Disease: Senile Plaques
Senile Plaques 		0.010 Biomarker disease BEFREE Plaque pathology is not evident even when Aβ1-42 is increased by pharmacological manipulation (using calpain inhibitor 1), indicating that soluble Aβ species, or other APP processing products, are sufficient to cause the initial synaptic changes. 27287430 2016
CUI: C0017636
Disease: Glioblastoma
Glioblastoma 		0.020 GeneticVariation disease BEFREE GBM cell lines stably expressing the mutant calpastatin showed that phosphorylation was necessary for radiation-induced calpain activation. 29581866 2018
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme 		0.020 GeneticVariation disease BEFREE GBM cell lines stably expressing the mutant calpastatin showed that phosphorylation was necessary for radiation-induced calpain activation. 29581866 2018
CUI: C0017636
Disease: Glioblastoma
Glioblastoma 		0.020 AlteredExpression disease BEFREE Glioblastoma and fibroblast cell lines expressed the nondeleted calpastatin mRNA in addition to the deletion type, and they showed bands corresponding to 117 kDa as well as 110 and 114 kDa. 8512320 1993
CUI: C0278878
Disease: Adult Glioblastoma
Adult Glioblastoma 		0.020 AlteredExpression disease BEFREE Glioblastoma and fibroblast cell lines expressed the nondeleted calpastatin mRNA in addition to the deletion type, and they showed bands corresponding to 117 kDa as well as 110 and 114 kDa. 8512320 1993
CUI: C0280474
Disease: Childhood Glioblastoma
Childhood Glioblastoma 		0.020 AlteredExpression disease BEFREE Glioblastoma and fibroblast cell lines expressed the nondeleted calpastatin mRNA in addition to the deletion type, and they showed bands corresponding to 117 kDa as well as 110 and 114 kDa. 8512320 1993
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme 		0.020 AlteredExpression disease BEFREE Glioblastoma and fibroblast cell lines expressed the nondeleted calpastatin mRNA in addition to the deletion type, and they showed bands corresponding to 117 kDa as well as 110 and 114 kDa. 8512320 1993
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.060 Biomarker disease BEFREE CAST mimetics may, therefore, be neuroprotective in AD. 19020018 2008
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		0.040 Biomarker phenotype BEFREE Calpastatin is associated with lymphovascular invasion in breast cancer. 21531560 2011
CUI: C0026936
Disease: Mycoplasma Infections
Mycoplasma Infections 		0.010 AlteredExpression group BEFREE Calpastatin upregulation in Mycoplasma hyorhinis-infected cells is promoted by the mycoplasma lipoproteins via the NF-κB pathway. 22288381 2012
CUI: C0024408
Disease: Machado-Joseph Disease
Machado-Joseph Disease 		0.020 Biomarker disease BEFREE Calpastatin-mediated inhibition of calpains in the mouse brain prevents mutant ataxin 3 proteolysis, nuclear localization and aggregation, relieving Machado-Joseph disease. 22843411 2012
CUI: C0009319
Disease: Colitis
Colitis 		0.010 Biomarker disease BEFREE CAST-KO recipients with induced colitis exhibited more severe weight loss, bloody diarrhea, and anemia compared with WT controls. 23986533 2013
CUI: C0085084
Disease: Motor Neuron Disease
Motor Neuron Disease 		0.010 Biomarker disease BEFREE CAST (encoding calpastatin) inhibits hyperactivated calpain to prevent motor neuron disease operating through a cascade of events as indicated in the schematic, with relevance to amyotrophic lateral sclerosis (ALS). 26756888 2016
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		0.020 Biomarker disease BEFREE CAST (encoding calpastatin) inhibits hyperactivated calpain to prevent motor neuron disease operating through a cascade of events as indicated in the schematic, with relevance to amyotrophic lateral sclerosis (ALS). 26756888 2016
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma 		0.010 Biomarker disease BEFREE Calpain inhibitor calpeptin suppresses pancreatic cancer by disrupting cancer-stromal interactions in a mouse xenograft model. 27487486 2016