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 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 BEFREE Similarly, we excluded the PAPSS2 gene (3'-alpha phosphoadenosine 5'-phosphosulphate synthase 2) responsible for SEMD Pakistani type. 15726110 2005
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: C0342541
Disease: Precocious pubarche
Precocious pubarche 		0.130 GeneticVariation disease BEFREE We have identified compound heterozygous mutations in the gene encoding human PAPS synthase 2 (PAPSS2) in a girl with premature pubarche, hyperandrogenic anovulation, very low DHEAS levels, and increased androgen levels. 19474428 2009
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
CUI: C0432211
Disease: Spondyloepimetaphyseal disorder
Spondyloepimetaphyseal disorder 		0.130 GeneticVariation disease BEFREE We characterized a nonsense mutation in ATPSK2 in the SEMD family and a missense mutation in the region of Atpsk2 encoding the APS kinase activity in the brachymorphic mouse. 9771708 1998
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: 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: C0432228
Disease: Brachyolmia
Brachyolmia 		0.130 Biomarker disease BEFREE PAPSS2-brachyolmia includes phenotypes of the conventional clinical concept of brachyolmia, the Hobaek and Toledo types, and is associated with abnormal androgen metabolism. 23824674 2013
CUI: C0432228
Disease: Brachyolmia
Brachyolmia 		0.130 GeneticVariation disease BEFREE We further examined three patients with similar brachyolmia phenotypes (two Japanese and a Korean) and also identified loss of function mutations in PAPSS2; one patient was homozygous for IVS3+2delT, and the other two were compound heterozygotes for c.616-634del19 (p.V206SfsX9) and c.1309-1310delAG (p.R437GfsX19), and c.480_481insCGTA (p.K161RfsX6) and c.661delA (p.I221SfsX40), respectively. 22791835 2012
CUI: C0432228
Disease: Brachyolmia
Brachyolmia 		0.130 Biomarker disease BEFREE PAPSS2-related brachyolmia: Clinical and radiological phenotype in 18 new cases. 31313512 2019
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: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis 		0.020 GeneticVariation disease BEFREE The osteoarthritis-associated gene PAPSS2 promotes differentiation and matrix formation in ATDC5 chondrogenic cells. 30546414 2018
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: 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: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome 		0.020 GeneticVariation disease BEFREE None of the SNPs in SULT2A1, PAPSS2, and STS constituted risk alleles for PCOS. 23861462 2013
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: C0003128
Disease: Anovulation
Anovulation 		0.010 GeneticVariation phenotype BEFREE We have identified compound heterozygous mutations in the gene encoding human PAPS synthase 2 (PAPSS2) in a girl with premature pubarche, hyperandrogenic anovulation, very low DHEAS levels, and increased androgen levels. 19474428 2009
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: 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: 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: C0029422
Disease: Osteochondrodysplasias
Osteochondrodysplasias 		0.010 Biomarker group BEFREE The deficiency of PAPSS2 results in osteochondrodysplasias. 12716056 2003
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: C0220726
Disease: Diastrophic dysplasia
Diastrophic dysplasia 		0.010 GeneticVariation disease BEFREE Two sulfation-related genes have been reported as the causal genes of severe chondrodysplasias: mutations in PAPSS2 (3'-phosphoadenosine 5'-phosphosulfate synthase 2) cause spondylo-epimetaphyseal dysplasia (SEMD), and mutations in SLC26A2 (solute carrier family 26, member 2) cause diastrophic dysplasia. 11558903 2001
CUI: C0265294
Disease: Pyle metaphyseal dysplasia
Pyle metaphyseal dysplasia 		0.010 GeneticVariation disease BEFREE PAPSS2 mutations have produced a skeletal dysplasia family, with a gradation of phenotypes ranging from brachyolmia to spondylo-epi-metaphyseal dysplasia. 22791835 2012