ACP4, acid phosphatase 4, 93650

N. diseases: 9; N. variants: 8
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4310630
Disease: AMELOGENESIS IMPERFECTA, TYPE IJ
AMELOGENESIS IMPERFECTA, TYPE IJ 		0.700 CausalMutation disease CLINVAR Defects in the acid phosphatase ACPT cause recessive hypoplastic amelogenesis imperfecta. 28513613 2017
CUI: C4310630
Disease: AMELOGENESIS IMPERFECTA, TYPE IJ
AMELOGENESIS IMPERFECTA, TYPE IJ 		0.700 GeneticVariation disease UNIPROT Recessive Mutations in ACPT, Encoding Testicular Acid Phosphatase, Cause Hypoplastic Amelogenesis Imperfecta. 27843125 2016
CUI: C4310630
Disease: AMELOGENESIS IMPERFECTA, TYPE IJ
AMELOGENESIS IMPERFECTA, TYPE IJ 		0.700 Biomarker disease GENOMICS_ENGLAND Recessive Mutations in ACPT, Encoding Testicular Acid Phosphatase, Cause Hypoplastic Amelogenesis Imperfecta. 27843125 2016
CUI: C4310630
Disease: AMELOGENESIS IMPERFECTA, TYPE IJ
AMELOGENESIS IMPERFECTA, TYPE IJ 		0.700 Biomarker disease CTD_human
CUI: C0399367
Disease: Amelogenesis imperfecta local hypoplastic form
Amelogenesis imperfecta local hypoplastic form 		0.310 GeneticVariation disease BEFREE Defects in the acid phosphatase ACPT cause recessive hypoplastic amelogenesis imperfecta. 28513613 2017
CUI: C0399367
Disease: Amelogenesis imperfecta local hypoplastic form
Amelogenesis imperfecta local hypoplastic form 		0.310 GermlineCausalMutation disease ORPHANET Recessive Mutations in ACPT, Encoding Testicular Acid Phosphatase, Cause Hypoplastic Amelogenesis Imperfecta. 27843125 2016
CUI: C0002452
Disease: Amelogenesis Imperfecta
Amelogenesis Imperfecta 		0.110 GeneticVariation disease BEFREE A 1-bp insertion in ACP4 (c.1189dupG) is predicted to lead to a frameshift, p.(Ala397Glyfs), resulting in an abnormal C-terminal part of the protein, and hypoplastic AI. 30877375 2019
CUI: C0002452
Disease: Amelogenesis Imperfecta
Amelogenesis Imperfecta 		0.110 CausalMutation disease CLINVAR Defects in the acid phosphatase ACPT cause recessive hypoplastic amelogenesis imperfecta. 28513613 2017
CUI: C0002452
Disease: Amelogenesis Imperfecta
Amelogenesis Imperfecta 		0.110 Biomarker disease HPO
CUI: C0011351
Disease: Dental Enamel Hypoplasia
Dental Enamel Hypoplasia 		0.100 Biomarker disease HPO
CUI: C1844813
Disease: Widely spaced teeth
Widely spaced teeth 		0.100 Biomarker phenotype HPO
CUI: C0751955
Disease: Brain Infarction
Brain Infarction 		0.010 Biomarker disease BEFREE We examined the potential neuroprotective action of ACPT-I (30 mg/kg) when administered during occlusion or reperfusion via the assessment of not only the brain infarction volume but also motor (CatWalk gait analysis and open field test) and sensorimotor (vibrissae-evoked forelimb-placing test) functions following MCAO/R. 29438731 2018
CUI: C0040580
Disease: Tracheal Diseases
Tracheal Diseases 		0.010 AlteredExpression group BEFREE We have cloned a new human acid phosphatase gene (named testicular acid phosphatase, ACPT), which is expressed mainly in testis and to a lower extent in the prostate, trachea, and other tissues. 11414767 2001
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		0.010 AlteredExpression disease BEFREE The testicular acid phosphatase gene is up-regulated by androgens and is down-regulated by estrogens in the prostate cancer cell line LNCaP. 11414767 2001
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		0.010 AlteredExpression disease BEFREE The testicular acid phosphatase gene is up-regulated by androgens and is down-regulated by estrogens in the prostate cancer cell line LNCaP. 11414767 2001