ACP4, acid phosphatase 4, 93650

N. diseases: 9; N. variants: 8
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1085307111
rs1085307111
Entrez Id: 93650;105372439
Gene Symbol: ACP4;LOC105372439
ACP4;LOC105372439
CUI: C4310630
Disease:
AMELOGENESIS IMPERFECTA, TYPE IJ 		T 0.700 CausalMutation CLINVAR Defects in the acid phosphatase ACPT cause recessive hypoplastic amelogenesis imperfecta. 28513613 2017
dbSNP: rs1085307111
rs1085307111
Entrez Id: 93650;105372439
Gene Symbol: ACP4;LOC105372439
ACP4;LOC105372439
CUI: C0002452
Disease:
Amelogenesis Imperfecta 		T 0.700 CausalMutation CLINVAR We identified two homozygous missense variants (c.428C>T, p.(T143M) and c.746C>T, p.(P249L)) in ACPT, the gene encoding acid phosphatase, testicular, which segregates with hypoplastic amelogenesis imperfecta in two unrelated families. 28513613 2017
dbSNP: rs546603773
rs546603773
Entrez Id: 93650;105372439
Gene Symbol: ACP4;LOC105372439
ACP4;LOC105372439
CUI: C0002452
Disease:
Amelogenesis Imperfecta 		T 0.700 CausalMutation CLINVAR We identified two homozygous missense variants (c.428C>T, p.(T143M) and c.746C>T, p.(P249L)) in ACPT, the gene encoding acid phosphatase, testicular, which segregates with hypoplastic amelogenesis imperfecta in two unrelated families. 28513613 2017
dbSNP: rs546603773
rs546603773
Entrez Id: 93650;105372439
Gene Symbol: ACP4;LOC105372439
ACP4;LOC105372439
CUI: C4310630
Disease:
AMELOGENESIS IMPERFECTA, TYPE IJ 		T 0.700 CausalMutation CLINVAR Defects in the acid phosphatase ACPT cause recessive hypoplastic amelogenesis imperfecta. 28513613 2017
dbSNP: rs202073531
rs202073531
Entrez Id: 93650;105372439
Gene Symbol: ACP4;LOC105372439
ACP4;LOC105372439
CUI: C4310630
Disease:
AMELOGENESIS IMPERFECTA, TYPE IJ 		0.700 GeneticVariation UNIPROT Recessive Mutations in ACPT, Encoding Testicular Acid Phosphatase, Cause Hypoplastic Amelogenesis Imperfecta. 27843125 2016
dbSNP: rs763573828
rs763573828
Entrez Id: 93650;105372439
Gene Symbol: ACP4;LOC105372439
ACP4;LOC105372439
CUI: C4310630
Disease:
AMELOGENESIS IMPERFECTA, TYPE IJ 		0.700 GeneticVariation UNIPROT Recessive Mutations in ACPT, Encoding Testicular Acid Phosphatase, Cause Hypoplastic Amelogenesis Imperfecta. 27843125 2016
dbSNP: rs779823931
rs779823931
Entrez Id: 93650;105372439
Gene Symbol: ACP4;LOC105372439
ACP4;LOC105372439
CUI: C4310630
Disease:
AMELOGENESIS IMPERFECTA, TYPE IJ 		0.700 GeneticVariation UNIPROT Recessive Mutations in ACPT, Encoding Testicular Acid Phosphatase, Cause Hypoplastic Amelogenesis Imperfecta. 27843125 2016
dbSNP: rs1057519277
rs1057519277
Entrez Id: 93650;105372439
Gene Symbol: ACP4;LOC105372439
ACP4;LOC105372439
CUI: C4310630
Disease:
AMELOGENESIS IMPERFECTA, TYPE IJ 		0.700 GeneticVariation UNIPROT
dbSNP: rs767907487
rs767907487
Entrez Id: 93650;105372439
Gene Symbol: ACP4;LOC105372439
ACP4;LOC105372439
CUI: C4310630
Disease:
AMELOGENESIS IMPERFECTA, TYPE IJ 		0.700 GeneticVariation UNIPROT
dbSNP: rs1270453185
rs1270453185
Entrez Id: 93650;105372439
Gene Symbol: ACP4;LOC105372439
ACP4;LOC105372439
CUI: C0002452
Disease:
Amelogenesis Imperfecta 		0.010 GeneticVariation 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
dbSNP: rs1085307111
rs1085307111
Entrez Id: 93650;105372439
Gene Symbol: ACP4;LOC105372439
ACP4;LOC105372439
CUI: C0399367
Disease:
Amelogenesis imperfecta local hypoplastic form 		0.010 GeneticVariation BEFREE We identified two homozygous missense variants (c.428C>T, p.(T143M) and c.746C>T, p.(P249L)) in ACPT, the gene encoding acid phosphatase, testicular, which segregates with hypoplastic amelogenesis imperfecta in two unrelated families. 28513613 2017
dbSNP: rs546603773
rs546603773
Entrez Id: 93650;105372439
Gene Symbol: ACP4;LOC105372439
ACP4;LOC105372439
CUI: C0399367
Disease:
Amelogenesis imperfecta local hypoplastic form 		0.010 GeneticVariation BEFREE We identified two homozygous missense variants (c.428C>T, p.(T143M) and c.746C>T, p.(P249L)) in ACPT, the gene encoding acid phosphatase, testicular, which segregates with hypoplastic amelogenesis imperfecta in two unrelated families. 28513613 2017