SLC25A3, solute carrier family 25 member 3, 5250

N. diseases: 112; N. variants: 1
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1835845
Disease: Mitochondrial Phosphate Carrier Deficiency
Mitochondrial Phosphate Carrier Deficiency 		0.700 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
CUI: C1835845
Disease: Mitochondrial Phosphate Carrier Deficiency
Mitochondrial Phosphate Carrier Deficiency 		0.700 Biomarker disease GENOMICS_ENGLAND Pathologic Variants of the Mitochondrial Phosphate Carrier SLC25A3: Two New Patients and Expansion of the Cardiomyopathy/Skeletal Myopathy Phenotype With and Without Lactic Acidosis. 25681081 2015
CUI: C1835845
Disease: Mitochondrial Phosphate Carrier Deficiency
Mitochondrial Phosphate Carrier Deficiency 		0.700 GermlineCausalMutation disease ORPHANET Mitochondrial phosphate-carrier deficiency: a novel disorder of oxidative phosphorylation. 17273968 2007
CUI: C1835845
Disease: Mitochondrial Phosphate Carrier Deficiency
Mitochondrial Phosphate Carrier Deficiency 		0.700 GeneticVariation disease UNIPROT Mitochondrial phosphate-carrier deficiency: a novel disorder of oxidative phosphorylation. 17273968 2007
CUI: C1835845
Disease: Mitochondrial Phosphate Carrier Deficiency
Mitochondrial Phosphate Carrier Deficiency 		0.700 Biomarker disease CTD_human
CUI: C1835845
Disease: Mitochondrial Phosphate Carrier Deficiency
Mitochondrial Phosphate Carrier Deficiency 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C1835845
Disease: Mitochondrial Phosphate Carrier Deficiency
Mitochondrial Phosphate Carrier Deficiency 		0.700 CausalMutation disease CLINVAR
CUI: C0001125
Disease: Acidosis, Lactic
Acidosis, Lactic 		0.110 Biomarker phenotype LHGDN Mitochondrial phosphate-carrier deficiency: a novel disorder of oxidative phosphorylation. 17273968 2007
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.110 Biomarker disease LHGDN Mitochondrial phosphate-carrier deficiency: a novel disorder of oxidative phosphorylation. 17273968 2007
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.110 Biomarker phenotype LHGDN Mitochondrial phosphate-carrier deficiency: a novel disorder of oxidative phosphorylation. 17273968 2007
CUI: C0001125
Disease: Acidosis, Lactic
Acidosis, Lactic 		0.110 Biomarker phenotype HPO
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.110 Biomarker disease HPO
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.110 Biomarker phenotype HPO
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.100 Biomarker group BEFREE However, PIAS, SOCS, and PTP have also been reported to correlate with tumor malignancy, and their biological function in tumorigenesis and antitumor therapy are somewhat controversial. 31213912 2019
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.100 Biomarker group BEFREE Recent studies have unveiled both oncogenic and tumor suppressive functions of PTP in HCC. 29558404 2018
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.100 Biomarker group BEFREE The tumor growth was suppressed in mice following two week's PTP administration (10, 20 and 40mg/kg) due to the induction of apoptosis, as detected by TUNEL assay. 28923567 2018
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.100 Biomarker group BEFREE These results show that ROS-induced oxidation of PTPN12 accounts for ABL1 phosphorylation in HLRCC-associated PRCC, revealing a novel mechanism for inactivating a tumor suppressor gene product and establishing a direct link between pathologic PTP oxidation and neoplastic disease. 30297534 2018
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.100 Biomarker group BEFREE Protein tyrosine phosphatase receptor‑type O (PTPRO), a member of the PTP family, has been frequently reported as potential tumor suppressor in many types of cancer. 28586036 2017
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.100 Biomarker group BEFREE The transmembrane protein-tyrosine phosphatase (PTP) DEP-1 (density-enhanced phosphatase) is a candidate tumor suppressor in the colon epithelium. 16682945 2006
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.100 AlteredExpression group BEFREE Expression of normal PTP-S4 in PyF cells significantly increased anchorage-independent cell growth and tumor formation in nude mice. 11597125 2001
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.100 Biomarker group BEFREE Our results are the first to suggest that PTP gamma is a potential estrogen-regulated tumor suppressor gene in human breast cancer which may play an important role in neoplastic processes of human breast epithelium. 10769629 2000
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.100 Biomarker group BEFREE Additionally, the genomic structure, position of the proximal promotor, and intron-exon border sequences of the 30-exon 780-kb PTP gamma gene have been determined, which will facilitate analysis of the PTP gamma gene in tumors. 8833149 1996
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.100 Biomarker group BEFREE The protein tyrosine phosphatase gamma (PTP gamma) gene has recently been suggested as a candidate tumor suppressor gene involved in the oncogenesis of human lung and renal cancers, although no direct evidence for PTP gamma mutations has been demonstrated thus far. 1596910 1992
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.100 Biomarker group BEFREE Thus, the PTP gamma gene has characteristics that suggest it as a candidate tumor suppressor gene at 3p21. 1711217 1991
CUI: C0010520
Disease: Cyanosis
Cyanosis 		0.100 Biomarker phenotype HPO