ACP4, acid phosphatase 4, 93650

N. diseases: 9; N. variants: 8
Disease: AMELOGENESIS IMPERFECTA, TYPE IJ ×
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