Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4225180
Disease: EVEN-PLUS SYNDROME
EVEN-PLUS SYNDROME 		0.720 GeneticVariation disease BEFREE Combined, our biophysical and structural studies contribute to the understanding of the molecular basis for how disease-associated mortalin mutations affect mortalin functionality and the pathogenesis of EVEN-PLUS syndrome. 30933555 2019
CUI: C4225180
Disease: EVEN-PLUS SYNDROME
EVEN-PLUS SYNDROME 		0.720 Biomarker disease GENOMICS_ENGLAND Mutations in the heat-shock protein A9 (HSPA9) gene cause the EVEN-PLUS syndrome of congenital malformations and skeletal dysplasia. 26598328 2015
CUI: C4225180
Disease: EVEN-PLUS SYNDROME
EVEN-PLUS SYNDROME 		0.720 GeneticVariation disease UNIPROT Mutations in the heat-shock protein A9 (HSPA9) gene cause the EVEN-PLUS syndrome of congenital malformations and skeletal dysplasia. 26598328 2015
CUI: C4225180
Disease: EVEN-PLUS SYNDROME
EVEN-PLUS SYNDROME 		0.720 Biomarker disease BEFREE Mutations in the heat-shock protein A9 (HSPA9) gene cause the EVEN-PLUS syndrome of congenital malformations and skeletal dysplasia. 26598328 2015
CUI: C4225180
Disease: EVEN-PLUS SYNDROME
EVEN-PLUS SYNDROME 		0.720 Biomarker disease GENOMICS_ENGLAND Mutations in the heat-shock protein A9 (HSPA9) gene cause the EVEN-PLUS syndrome of congenital malformations and skeletal dysplasia. 26598328 2015
CUI: C4225180
Disease: EVEN-PLUS SYNDROME
EVEN-PLUS SYNDROME 		0.720 GermlineCausalMutation disease ORPHANET Mutations in the heat-shock protein A9 (HSPA9) gene cause the EVEN-PLUS syndrome of congenital malformations and skeletal dysplasia. 26598328 2015
CUI: C4225180
Disease: EVEN-PLUS SYNDROME
EVEN-PLUS SYNDROME 		0.720 GermlineCausalMutation disease ORPHANET Epiphyseal, vertebral, and ear (EVE) dysplasia: a new syndrome? 10424819 1999
CUI: C4225180
Disease: EVEN-PLUS SYNDROME
EVEN-PLUS SYNDROME 		0.720 Biomarker disease CTD_human
CUI: C4225180
Disease: EVEN-PLUS SYNDROME
EVEN-PLUS SYNDROME 		0.720 Biomarker disease GENOMICS_ENGLAND
CUI: C4225180
Disease: EVEN-PLUS SYNDROME
EVEN-PLUS SYNDROME 		0.720 CausalMutation disease CLINVAR
CUI: C0002896
Disease: Sideroblastic anemia
Sideroblastic anemia 		0.600 Biomarker disease GENOMICS_ENGLAND Congenital sideroblastic anemia due to mutations in the mitochondrial HSP70 homologue HSPA9. 26491070 2015
CUI: C4225428
Disease: ANEMIA, SIDEROBLASTIC, 4
ANEMIA, SIDEROBLASTIC, 4 		0.600 Biomarker disease GENOMICS_ENGLAND Congenital sideroblastic anemia due to mutations in the mitochondrial HSP70 homologue HSPA9. 26491070 2015
CUI: C4225428
Disease: ANEMIA, SIDEROBLASTIC, 4
ANEMIA, SIDEROBLASTIC, 4 		0.600 GeneticVariation disease UNIPROT Congenital sideroblastic anemia due to mutations in the mitochondrial HSP70 homologue HSPA9. 26491070 2015
CUI: C0002896
Disease: Sideroblastic anemia
Sideroblastic anemia 		0.600 Biomarker disease HPO
CUI: C0002896
Disease: Sideroblastic anemia
Sideroblastic anemia 		0.600 Biomarker disease CTD_human
CUI: C4225428
Disease: ANEMIA, SIDEROBLASTIC, 4
ANEMIA, SIDEROBLASTIC, 4 		0.600 CausalMutation disease CLINVAR
CUI: C4225428
Disease: ANEMIA, SIDEROBLASTIC, 4
ANEMIA, SIDEROBLASTIC, 4 		0.600 Biomarker disease GENOMICS_ENGLAND
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.400 Biomarker disease BEFREE This preliminary study summarized that Mortalin plays a significant role in PD with negative correlation with α-Syn. 29307058 2018
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.400 AlteredExpression disease BEFREE However, to date, mortalin expression has not yet been evaluated in astrocytes of post-mortem brain tissue from either normal or PD subjects. 26095919 2016
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.400 GeneticVariation disease BEFREE The expression of mortalin decreased significantly in dopaminergic cells overexpressing A53T α-syn; furthermore, the down-regulation of mortalin could attenuate the disrupted mitochondrial dynamics by reducing α-syn translocation to mitochondria, suggesting that a compensatory mechanism of mortalin might be implicated in the pathogenesis of PD. 25665531 2015
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.400 Biomarker disease BEFREE These factors may mediate the transformation of longevity/pro-proliferative function of mot-2 to the premature aging/anti-proliferative effect of mutants, and hence may have significance in cellular aging, Parkinson disease pathology, and prognosis. 25645922 2015
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.400 Biomarker disease BEFREE Mortalin dysfunction associated with Parkinson's disease (PD) increases the vulnerability of cultured cells to proteolytic stress and leads to changes in mitochondrial function and morphology. 24386261 2013
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.400 Biomarker disease BEFREE Dysfunctional mitochondria and the mitochondrial chaperone mortalin (HSPA9, GRP75) have been implicated in the pathogenesis of Parkinson disease (PD). 23831374 2013
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.400 Biomarker disease BEFREE Mortalin also interacts with a variety of PD-related proteins and plays an indispensible role in helping native protein refolding and importing proteins into the mitochondrial matrix. 21640711 2011
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.400 Biomarker disease BEFREE Dissecting the role of the mitochondrial chaperone mortalin in Parkinson's disease: functional impact of disease-related variants on mitochondrial homeostasis. 20817635 2010