Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1835826
Disease: Renal Hypodysplasia, Nonsyndromic, 1
Renal Hypodysplasia, Nonsyndromic, 1 		0.700 Biomarker disease GENOMICS_ENGLAND Large Intragenic Deletion in DSTYK Underlies Autosomal-Recessive Complicated Spastic Paraparesis, SPG23. 28157540 2017
CUI: C1835826
Disease: Renal Hypodysplasia, Nonsyndromic, 1
Renal Hypodysplasia, Nonsyndromic, 1 		0.700 Biomarker disease GENOMICS_ENGLAND Large Intragenic Deletion in DSTYK Underlies Autosomal-Recessive Complicated Spastic Paraparesis, SPG23. 28157540 2017
CUI: C1835826
Disease: Renal Hypodysplasia, Nonsyndromic, 1
Renal Hypodysplasia, Nonsyndromic, 1 		0.700 GeneticVariation disease UNIPROT Mutations in DSTYK and dominant urinary tract malformations. 23862974 2013
CUI: C1835826
Disease: Renal Hypodysplasia, Nonsyndromic, 1
Renal Hypodysplasia, Nonsyndromic, 1 		0.700 Biomarker disease CTD_human
CUI: C1835826
Disease: Renal Hypodysplasia, Nonsyndromic, 1
Renal Hypodysplasia, Nonsyndromic, 1 		0.700 CausalMutation disease CLINVAR
CUI: C0796019
Disease: SPASTIC PARAPLEGIA 23 (disorder)
SPASTIC PARAPLEGIA 23 (disorder) 		0.600 Biomarker disease GENOMICS_ENGLAND Large Intragenic Deletion in DSTYK Underlies Autosomal-Recessive Complicated Spastic Paraparesis, SPG23. 28157540 2017
CUI: C0796019
Disease: SPASTIC PARAPLEGIA 23 (disorder)
SPASTIC PARAPLEGIA 23 (disorder) 		0.600 Biomarker disease GENOMICS_ENGLAND Large Intragenic Deletion in DSTYK Underlies Autosomal-Recessive Complicated Spastic Paraparesis, SPG23. 28157540 2017
CUI: C0796019
Disease: SPASTIC PARAPLEGIA 23 (disorder)
SPASTIC PARAPLEGIA 23 (disorder) 		0.600 Biomarker disease GENOMICS_ENGLAND Large Intragenic Deletion in DSTYK Underlies Autosomal-Recessive Complicated Spastic Paraparesis, SPG23. 28157540 2017
CUI: C0796019
Disease: SPASTIC PARAPLEGIA 23 (disorder)
SPASTIC PARAPLEGIA 23 (disorder) 		0.600 GermlineCausalMutation disease ORPHANET Large Intragenic Deletion in DSTYK Underlies Autosomal-Recessive Complicated Spastic Paraparesis, SPG23. 28157540 2017
CUI: C0796019
Disease: SPASTIC PARAPLEGIA 23 (disorder)
SPASTIC PARAPLEGIA 23 (disorder) 		0.600 Biomarker disease CTD_human
CUI: C0042580
Disease: Vesico-Ureteral Reflux
Vesico-Ureteral Reflux 		0.400 Biomarker disease GENOMICS_ENGLAND
CUI: C0042580
Disease: Vesico-Ureteral Reflux
Vesico-Ureteral Reflux 		0.400 Biomarker disease HPO
CUI: C0521619
Disease: Obstruction of pelviureteric junction
Obstruction of pelviureteric junction 		0.400 Biomarker phenotype GENOMICS_ENGLAND
CUI: C0521619
Disease: Obstruction of pelviureteric junction
Obstruction of pelviureteric junction 		0.400 Biomarker phenotype HPO
CUI: C0266294
Disease: Unilateral agenesis of kidney
Unilateral agenesis of kidney 		0.300 GermlineCausalMutation disease ORPHANET Mutations in DSTYK and dominant urinary tract malformations. 23862974 2013
CUI: C0266294
Disease: Unilateral agenesis of kidney
Unilateral agenesis of kidney 		0.300 GermlineCausalMutation disease ORPHANET Localization of a gene for nonsyndromic renal hypodysplasia to chromosome 1p32-33. 17273976 2007
CUI: C3808069
Disease: Renal hypodysplasia
Renal hypodysplasia 		0.300 Biomarker phenotype GENOMICS_ENGLAND
CUI: C0205682
Disease: Waist-Hip Ratio
Waist-Hip Ratio 		0.100 GeneticVariation phenotype GWASCAT Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry. 30239722 2019
CUI: C0205682
Disease: Waist-Hip Ratio
Waist-Hip Ratio 		0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.100 GeneticVariation phenotype GWASCAT Genetics of blood lipids among ~300,000 multi-ethnic participants of the Million Veteran Program. 30275531 2018
CUI: C0205682
Disease: Waist-Hip Ratio
Waist-Hip Ratio 		0.100 GeneticVariation phenotype GWASCAT Association of Genetic Variants Related to Gluteofemoral vs Abdominal Fat Distribution With Type 2 Diabetes, Coronary Disease, and Cardiovascular Risk Factors. 30575882 2018
CUI: C0200641
Disease: Blood basophil count (lab test)
Blood basophil count (lab test) 		0.100 GeneticVariation phenotype GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.100 GeneticVariation phenotype GWASDB Seventy-five genetic loci influencing the human red blood cell. 23222517 2012
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.100 Biomarker disease HPO
CUI: C0015732
Disease: Fecal Incontinence
Fecal Incontinence 		0.100 Biomarker disease HPO