Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0432211
Disease: Spondyloepimetaphyseal disorder
Spondyloepimetaphyseal disorder 		0.130 Biomarker disease BEFREE A large inbred family with a distinct form of recessively inherited, spondyloepimetaphyseal dysplasia (SEMD) was mapped to PAPSS2 isoform located in the chromosome region of 10q23-24. 12716056 2003
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: 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: C0013336
Disease: Dwarfism
Dwarfism 		0.110 Biomarker disease BEFREE Although PAPSS2 deficiency is a rare cause of premature pubarche and adrenal androgen excess, it should be considered, especially in cases with disproportionate short stature and clinical hyperandrogenism associated with low plasma DHEAS concentration. 31461705 2019
CUI: C0206081
Disease: Hyperandrogenism
Hyperandrogenism 		0.010 Biomarker disease BEFREE Although PAPSS2 deficiency is a rare cause of premature pubarche and adrenal androgen excess, it should be considered, especially in cases with disproportionate short stature and clinical hyperandrogenism associated with low plasma DHEAS concentration. 31461705 2019
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 UNIPROT Clinical and radiographic features of the autosomal recessive form of brachyolmia caused by PAPSS2 mutations. 23824674 2013
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.010 AlteredExpression disease BEFREE Compared with the Control group, atrial PKC activity and pERK and SK3 protein expression were increased, while SK2 protein expression was decreased in atrial tissues of T2DM rats. 30545309 2018
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: 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: 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: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		0.010 Biomarker phenotype BEFREE Enhanced PAPSS2/VCAN sulfation axis is essential for Snail-mediated breast cancer cell migration and metastasis. 29955124 2019
CUI: C0432211
Disease: Spondyloepimetaphyseal disorder
Spondyloepimetaphyseal disorder 		0.130 GeneticVariation disease BEFREE Exclusion of the dymeclin and PAPSS2 genes in a novel form of spondyloepimetaphyseal dysplasia and mental retardation. 15726110 2005
CUI: C0025362
Disease: Mental Retardation
Mental Retardation 		0.010 Biomarker disease BEFREE Exclusion of the dymeclin and PAPSS2 genes in a novel form of spondyloepimetaphyseal dysplasia and mental retardation. 15726110 2005
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.010 Biomarker group BEFREE Exclusion of the dymeclin and PAPSS2 genes in a novel form of spondyloepimetaphyseal dysplasia and mental retardation. 15726110 2005
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		0.010 GeneticVariation group BEFREE Genetic defects in PAPSS2 have been linked to bone and cartilage malformations as well as a steroid sulfation defect. 31131283 2019
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis 		0.020 GeneticVariation disease BEFREE Given their critical roles in cartilage metabolism and the severe phenotypes that result from mutations in these genes, we examined PAPSS2 and SLC26A2 as candidate susceptibility loci for OA. 11558903 2001
CUI: C0409959
Disease: Osteoarthritis, Knee
Osteoarthritis, Knee 		0.010 GeneticVariation disease BEFREE Identification of sequence polymorphisms in two sulfation-related genes, PAPSS2 and SLC26A2, and an association analysis with knee osteoarthritis. 11558903 2001
CUI: C0342541
Disease: Precocious pubarche
Precocious pubarche 		0.130 GeneticVariation disease BEFREE Impaired DHEA sulfation is thought to increase the conversion of DHEA toward active androgens, a proposition supported by the previous report of a girl with inactivating PAPSS2 mutations who presented with low serum DHEA sulfate and androgen excess, clinically manifesting with premature pubarche and early-onset polycystic ovary syndrome. 25594860 2015
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome 		0.020 GeneticVariation disease BEFREE Impaired DHEA sulfation is thought to increase the conversion of DHEA toward active androgens, a proposition supported by the previous report of a girl with inactivating PAPSS2 mutations who presented with low serum DHEA sulfate and androgen excess, clinically manifesting with premature pubarche and early-onset polycystic ovary syndrome. 25594860 2015
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 CLINVAR Mutations in orthologous genes in human spondyloepimetaphyseal dysplasia and the brachymorphic mouse. 9771708 1998