Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 54
Gene Symbol: ACP5
ACP5
SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION
0.720 GeneticVariation BEFREE Spondyloenchondrodysplasia (SPENCD) is an autosomal recessive skeletal dysplasia by biallelic mutations in ACP5 gene encoding tartrate-resistant acid phosphatase (TRAP). 30558059

2018

Entrez Id: 54
Gene Symbol: ACP5
ACP5
SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION
0.720 Biomarker BEFREE ACP5 deficiency is known to cause spondyloenchondrodysplasia (SPENCD), which is characterized by various autoimmune and neurological symptoms in addition to short stature. 26789720

2016