Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2748515
Disease: Spondyloepimetaphyseal Dysplasia, Pakistani Type
Spondyloepimetaphyseal Dysplasia, Pakistani Type 		0.920 GeneticVariation disease 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
CUI: C2748515
Disease: Spondyloepimetaphyseal Dysplasia, Pakistani Type
Spondyloepimetaphyseal Dysplasia, Pakistani Type 		0.920 GeneticVariation disease BEFREE 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
CUI: C2748515
Disease: Spondyloepimetaphyseal Dysplasia, Pakistani Type
Spondyloepimetaphyseal Dysplasia, Pakistani Type 		0.920 GeneticVariation disease 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
CUI: C2748515
Disease: Spondyloepimetaphyseal Dysplasia, Pakistani Type
Spondyloepimetaphyseal Dysplasia, Pakistani Type 		0.920 GeneticVariation disease CLINVAR Clinical and radiographic features of the autosomal recessive form of brachyolmia caused by PAPSS2 mutations. 23824674 2013
CUI: C2748515
Disease: Spondyloepimetaphyseal Dysplasia, Pakistani Type
Spondyloepimetaphyseal Dysplasia, Pakistani Type 		0.920 GeneticVariation disease 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
CUI: C2748515
Disease: Spondyloepimetaphyseal Dysplasia, Pakistani Type
Spondyloepimetaphyseal Dysplasia, Pakistani Type 		0.920 GeneticVariation disease UNIPROT Clinical and radiographic features of the autosomal recessive form of brachyolmia caused by PAPSS2 mutations. 23824674 2013
CUI: C2748515
Disease: Spondyloepimetaphyseal Dysplasia, Pakistani Type
Spondyloepimetaphyseal Dysplasia, Pakistani Type 		0.920 GeneticVariation disease CLINVAR PAPSS2 mutations cause autosomal recessive brachyolmia. 22791835 2012
CUI: C2748515
Disease: Spondyloepimetaphyseal Dysplasia, Pakistani Type
Spondyloepimetaphyseal Dysplasia, Pakistani Type 		0.920 Biomarker disease GENOMICS_ENGLAND Inactivating PAPSS2 mutations in a patient with premature pubarche. 19474428 2009
CUI: C2748515
Disease: Spondyloepimetaphyseal Dysplasia, Pakistani Type
Spondyloepimetaphyseal Dysplasia, Pakistani Type 		0.920 GeneticVariation disease CLINVAR Inactivating PAPSS2 mutations in a patient with premature pubarche. 19474428 2009
CUI: C2748515
Disease: Spondyloepimetaphyseal Dysplasia, Pakistani Type
Spondyloepimetaphyseal Dysplasia, Pakistani Type 		0.920 GeneticVariation disease UNIPROT Inactivating PAPSS2 mutations in a patient with premature pubarche. 19474428 2009
CUI: C2748515
Disease: Spondyloepimetaphyseal Dysplasia, Pakistani Type
Spondyloepimetaphyseal Dysplasia, Pakistani Type 		0.920 CausalMutation disease CLINVAR Inactivating PAPSS2 mutations in a patient with premature pubarche. 19474428 2009
CUI: C2748515
Disease: Spondyloepimetaphyseal Dysplasia, Pakistani Type
Spondyloepimetaphyseal Dysplasia, Pakistani Type 		0.920 GeneticVariation disease BEFREE Similarly, we excluded the PAPSS2 gene (3'-alpha phosphoadenosine 5'-phosphosulphate synthase 2) responsible for SEMD Pakistani type. 15726110 2005
CUI: C2748515
Disease: Spondyloepimetaphyseal Dysplasia, Pakistani Type
Spondyloepimetaphyseal Dysplasia, Pakistani Type 		0.920 Biomarker disease MGD A member of a family of sulfate-activating enzymes causes murine brachymorphism. 9671738 1998
CUI: C2748515
Disease: Spondyloepimetaphyseal Dysplasia, Pakistani Type
Spondyloepimetaphyseal Dysplasia, Pakistani Type 		0.920 GeneticVariation disease CLINVAR Mutations in orthologous genes in human spondyloepimetaphyseal dysplasia and the brachymorphic mouse. 9771708 1998
CUI: C2748515
Disease: Spondyloepimetaphyseal Dysplasia, Pakistani Type
Spondyloepimetaphyseal Dysplasia, Pakistani Type 		0.920 GermlineCausalMutation disease ORPHANET Mutations in orthologous genes in human spondyloepimetaphyseal dysplasia and the brachymorphic mouse. 9771708 1998
CUI: C2748515
Disease: Spondyloepimetaphyseal Dysplasia, Pakistani Type
Spondyloepimetaphyseal Dysplasia, Pakistani Type 		0.920 GeneticVariation disease UNIPROT Distinct, autosomal recessive form of spondyloepimetaphyseal dysplasia segregating in an inbred Pakistani kindred. 9714015 1998
CUI: C2748515
Disease: Spondyloepimetaphyseal Dysplasia, Pakistani Type
Spondyloepimetaphyseal Dysplasia, Pakistani Type 		0.920 Biomarker disease MGD Cortisone-induced cleft palate in the brachymorphic mouse. 6119797 1980
CUI: C2748515
Disease: Spondyloepimetaphyseal Dysplasia, Pakistani Type
Spondyloepimetaphyseal Dysplasia, Pakistani Type 		0.920 Biomarker disease MGD Three recessive mutations producing disproportionate dwarfing in mice: achondroplasia, brachymorphic, and stubby. 5713631 1969
CUI: C2748515
Disease: Spondyloepimetaphyseal Dysplasia, Pakistani Type
Spondyloepimetaphyseal Dysplasia, Pakistani Type 		0.920 Biomarker disease CTD_human
CUI: C2748515
Disease: Spondyloepimetaphyseal Dysplasia, Pakistani Type
Spondyloepimetaphyseal Dysplasia, Pakistani Type 		0.920 Biomarker disease GENOMICS_ENGLAND
CUI: C0878659
Disease: Disproportionate short stature
Disproportionate short stature 		0.300 Biomarker phenotype GENOMICS_ENGLAND
CUI: C2748516
Disease: Spondylodysplasia And Premature Pubarche
Spondylodysplasia And Premature Pubarche 		0.200 Biomarker disease MGD A member of a family of sulfate-activating enzymes causes murine brachymorphism. 9671738 1998
CUI: C2748516
Disease: Spondylodysplasia And Premature Pubarche
Spondylodysplasia And Premature Pubarche 		0.200 Biomarker disease MGD Cortisone-induced cleft palate in the brachymorphic mouse. 6119797 1980
CUI: C2748516
Disease: Spondylodysplasia And Premature Pubarche
Spondylodysplasia And Premature Pubarche 		0.200 Biomarker disease MGD Three recessive mutations producing disproportionate dwarfing in mice: achondroplasia, brachymorphic, and stubby. 5713631 1969
CUI: C0342541
Disease: Precocious pubarche
Precocious pubarche 		0.130 Biomarker disease BEFREE We describe the third case with PAPSS2 deficiency presenting with premature pubarche, and the first large deletion in the PAPSS2 gene. 31461705 2019