Source: CLINVAR

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 CLINVAR 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 CLINVAR 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 CLINVAR PAPSS2 mutations cause autosomal recessive brachyolmia. 22791835

2012
Entrez Id: 9060
Gene Symbol: PAPSS2
PAPSS2
CUI: C2748515
Disease: Spondyloepimetaphyseal Dysplasia, Pakistani Type
Spondyloepimetaphyseal Dysplasia, Pakistani Type 		0.920 GeneticVariation CLINVAR 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 CausalMutation CLINVAR 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 CLINVAR Mutations in orthologous genes in human spondyloepimetaphyseal dysplasia and the brachymorphic mouse. 9771708

1998