CISD2, CDGSH iron sulfur domain 2, 493856

N. diseases: 106; N. variants: 4
Disease: WOLFRAM SYNDROME 2 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1858028
Disease: WOLFRAM SYNDROME 2
WOLFRAM SYNDROME 2 		0.900 GeneticVariation disease BEFREE In humans, mutations in CISD2 result in Wolfram syndrome 2, a disease in which the patients display juvenile diabetes, neuropsychiatric disorders and defective platelet aggregation. 29666474 2019
CUI: C1858028
Disease: WOLFRAM SYNDROME 2
WOLFRAM SYNDROME 2 		0.900 Biomarker disease BEFREE Strikingly, there is a ~70% decrease in Cisd2 protein, a key regulator of lifespan in mice and the disease gene for Wolfram syndrome 2 in humans, within the gastrocnemius after middle age among mice. 29168286 2018
CUI: C1858028
Disease: WOLFRAM SYNDROME 2
WOLFRAM SYNDROME 2 		0.900 GeneticVariation disease BEFREE Mutations of CISD2 gene cause autosomal recessive Wolfram syndrome 2 (WS2) characterized by the absence of diabetes insipidus and psychiatric disorders, and by bleeding upper intestinal ulcer and defective platelet aggregation. 30171196 2018
CUI: C1858028
Disease: WOLFRAM SYNDROME 2
WOLFRAM SYNDROME 2 		0.900 GeneticVariation disease BEFREE Mutations of CISD2 gene cause autosomal recessive Wolfram syndrome 2 (WS2) characterized by the absence of diabetes insipidus and psychiatric disorders, and by bleeding upper intestinal ulcer and defective platelet aggregation. 29774890 2018
CUI: C1858028
Disease: WOLFRAM SYNDROME 2
WOLFRAM SYNDROME 2 		0.900 Biomarker disease GENOMICS_ENGLAND A novel CISD2 mutation associated with a classical Wolfram syndrome phenotype alters Ca2+ homeostasis and ER-mitochondria interactions. 28335035 2017
CUI: C1858028
Disease: WOLFRAM SYNDROME 2
WOLFRAM SYNDROME 2 		0.900 Biomarker disease GENOMICS_ENGLAND We concluded that the c.103 + 1G > A mutation resulted in the loss of functional CISD2 protein in the two Italian WFS2 patients. 29237418 2017
CUI: C1858028
Disease: WOLFRAM SYNDROME 2
WOLFRAM SYNDROME 2 		0.900 Biomarker disease BEFREE Miner2 is a member of a new CDGSH iron-sulfur protein family that also includes two mitochondrial proteins: the type II diabetes-related mitoNEET and the Wolfram syndrome 2-linked Miner1. 28082676 2017
CUI: C1858028
Disease: WOLFRAM SYNDROME 2
WOLFRAM SYNDROME 2 		0.900 Biomarker disease BEFREE Abnormal regulation of NEET proteins was consequently found to result in multiple health conditions, and aberrant splicing of NAF-1 was found to be a causative of the neurological genetic disorder Wolfram Syndrome 2. 25448035 2015
CUI: C1858028
Disease: WOLFRAM SYNDROME 2
WOLFRAM SYNDROME 2 		0.900 Biomarker disease CTD_human Genetic studies in Drosophila and humans support a model for the concerted function of CISD2, PPT1 and CLN3 in disease. 24705017 2014
CUI: C1858028
Disease: WOLFRAM SYNDROME 2
WOLFRAM SYNDROME 2 		0.900 Biomarker disease GENOMICS_ENGLAND A novel CISD2 intragenic deletion, optic neuropathy and platelet aggregation defect in Wolfram syndrome type 2. 25056293 2014
CUI: C1858028
Disease: WOLFRAM SYNDROME 2
WOLFRAM SYNDROME 2 		0.900 Biomarker disease BEFREE Future work will examine how the CISD2 knockout mouse helps us to understand WFS2 pathogenesis, as well as exploring the potential effects of increased CISD2 expression. 20649540 2010
CUI: C1858028
Disease: WOLFRAM SYNDROME 2
WOLFRAM SYNDROME 2 		0.900 Biomarker disease BEFREE CISD2, the causative gene for Wolfram syndrome 2 (WFS2), is a previously uncharacterized novel gene. 19717971 2009
CUI: C1858028
Disease: WOLFRAM SYNDROME 2
WOLFRAM SYNDROME 2 		0.900 Biomarker disease BEFREE Thus, this mutant mouse provides an animal model for mechanistic investigation of Cisd2 protein function and help with a pathophysiological understanding of WFS2. 19451219 2009
CUI: C1858028
Disease: WOLFRAM SYNDROME 2
WOLFRAM SYNDROME 2 		0.900 Biomarker disease MGD Thus, this mutant mouse provides an animal model for mechanistic investigation of Cisd2 protein function and help with a pathophysiological understanding of WFS2. 19451219 2009
CUI: C1858028
Disease: WOLFRAM SYNDROME 2
WOLFRAM SYNDROME 2 		0.900 Biomarker disease GENOMICS_ENGLAND A homozygous mutation in a novel zinc-finger protein, ERIS, is responsible for Wolfram syndrome 2. 17846994 2007
CUI: C1858028
Disease: WOLFRAM SYNDROME 2
WOLFRAM SYNDROME 2 		0.900 GeneticVariation disease BEFREE A homozygous mutation in a novel zinc-finger protein, ERIS, is responsible for Wolfram syndrome 2. 17846994 2007
CUI: C1858028
Disease: WOLFRAM SYNDROME 2
WOLFRAM SYNDROME 2 		0.900 CausalMutation disease CLINVAR
CUI: C1858028
Disease: WOLFRAM SYNDROME 2
WOLFRAM SYNDROME 2 		0.900 Biomarker disease GENOMICS_ENGLAND