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 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: C0342541
Disease: Precocious pubarche
Precocious pubarche 		0.130 Biomarker disease HPO
CUI: C0432211
Disease: Spondyloepimetaphyseal disorder
Spondyloepimetaphyseal disorder 		0.130 Biomarker disease HPO
CUI: C0432228
Disease: Brachyolmia
Brachyolmia 		0.130 GeneticVariation disease CLINVAR
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.110 Biomarker disease HPO
CUI: C0019572
Disease: Hirsutism
Hirsutism 		0.100 Biomarker phenotype HPO
CUI: C0221357
Disease: Brachydactyly
Brachydactyly 		0.100 Biomarker disease HPO
CUI: C0232940
Disease: Secondary physiologic amenorrhea
Secondary physiologic amenorrhea 		0.100 Biomarker disease HPO
CUI: C0345371
Disease: Hypoplasia of lower limb
Hypoplasia of lower limb 		0.100 Biomarker disease HPO
CUI: C0345392
Disease: Congenital kyphoscoliosis
Congenital kyphoscoliosis 		0.100 Biomarker disease HPO
CUI: C0349588
Disease: Short stature
Short stature 		0.100 Biomarker phenotype HPO
CUI: C0425957
Disease: Secondary amenorrhea
Secondary amenorrhea 		0.100 Biomarker phenotype HPO
CUI: C0544755
Disease: Genu varum
Genu varum 		0.100 Biomarker phenotype HPO
CUI: C0575158
Disease: Kyphoscoliosis deformity of spine
Kyphoscoliosis deformity of spine 		0.100 Biomarker disease HPO
CUI: C0600033
Disease: Acquired Kyphoscoliosis
Acquired Kyphoscoliosis 		0.100 Biomarker disease HPO
CUI: C0702166
Disease: Acne
Acne 		0.100 Biomarker disease HPO
CUI: C1842153
Disease: Irregular vertebral endplates
Irregular vertebral endplates 		0.100 Biomarker phenotype HPO
CUI: C1844704
Disease: Platyspondyly
Platyspondyly 		0.100 Biomarker phenotype HPO
CUI: C2748518
Disease: Lumbar scoliosis
Lumbar scoliosis 		0.100 Biomarker disease HPO
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		0.100 Biomarker phenotype HPO
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
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 Biomarker disease BEFREE PAPSS2-related brachyolmia: Clinical and radiological phenotype in 18 new cases. 31313512 2019