Source: UNIPROT

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 9060
Gene Symbol: PAPSS2
PAPSS2
CUI: C2748515
Disease: Spondyloepimetaphyseal Dysplasia, Pakistani Type
Spondyloepimetaphyseal Dysplasia, Pakistani Type 		0.920 GeneticVariation UNIPROT PAPSS2 deficiency causes androgen excess via impaired DHEA sulfation--in vitro and in vivo studies in a family harboring two novel PAPSS2 mutations. 25594860

2015
Entrez Id: 9060
Gene Symbol: PAPSS2
PAPSS2
CUI: C2748515
Disease: Spondyloepimetaphyseal Dysplasia, Pakistani Type
Spondyloepimetaphyseal Dysplasia, Pakistani Type 		0.920 GeneticVariation UNIPROT We describe five patients from a Turkish family with SEMD Pakistani type with homozygosity for a nonsense mutation (p.R329X) leading to a stop codon in PAPSS2. 23633440

2013
Entrez Id: 9060
Gene Symbol: PAPSS2
PAPSS2
CUI: C2748515
Disease: Spondyloepimetaphyseal Dysplasia, Pakistani Type
Spondyloepimetaphyseal Dysplasia, Pakistani Type 		0.920 GeneticVariation UNIPROT Clinical and radiographic features of the autosomal recessive form of brachyolmia caused by PAPSS2 mutations. 23824674

2013
Entrez Id: 9060
Gene Symbol: PAPSS2
PAPSS2
CUI: C2748515
Disease: Spondyloepimetaphyseal Dysplasia, Pakistani Type
Spondyloepimetaphyseal Dysplasia, Pakistani Type 		0.920 GeneticVariation UNIPROT Inactivating PAPSS2 mutations in a patient with premature pubarche. 19474428

2009
Entrez Id: 9060
Gene Symbol: PAPSS2
PAPSS2
CUI: C2748515
Disease: Spondyloepimetaphyseal Dysplasia, Pakistani Type
Spondyloepimetaphyseal Dysplasia, Pakistani Type 		0.920 GeneticVariation UNIPROT Distinct, autosomal recessive form of spondyloepimetaphyseal dysplasia segregating in an inbred Pakistani kindred. 9714015

1998