Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0005890
Disease: Body Height
Body Height 		0.100 GeneticVariation phenotype GWASCAT Characterizing rare and low-frequency height-associated variants in the Japanese population. 31562340 2019
CUI: C1868672
Disease: NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE
NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE 		0.100 GeneticVariation disease CLINVAR Rapid Response to Cyclosporin A and Favorable Renal Outcome in Nongenetic Versus Genetic Steroid-Resistant Nephrotic Syndrome. 26668027 2016
CUI: C3496337
Disease: Idiopathic Nephrotic Syndrome
Idiopathic Nephrotic Syndrome 		0.100 GeneticVariation disease CLINVAR Rapid Response to Cyclosporin A and Favorable Renal Outcome in Nongenetic Versus Genetic Steroid-Resistant Nephrotic Syndrome. 26668027 2016
CUI: C1868672
Disease: NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE
NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE 		0.100 GeneticVariation disease CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159 2015
CUI: C1868672
Disease: NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE
NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE 		0.100 CausalMutation disease CLINVAR A single-gene cause in 29.5% of cases of steroid-resistant nephrotic syndrome. 25349199 2015
CUI: C1868672
Disease: NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE
NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE 		0.100 GeneticVariation disease CLINVAR A single-gene cause in 29.5% of cases of steroid-resistant nephrotic syndrome. 25349199 2015
CUI: C1868672
Disease: NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE
NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE 		0.100 GeneticVariation disease CLINVAR Variability in phenotype induced by the podocin variant R229Q plus a single pathogenic mutation. 26413278 2015
CUI: C3496337
Disease: Idiopathic Nephrotic Syndrome
Idiopathic Nephrotic Syndrome 		0.100 GeneticVariation disease CLINVAR Variability in phenotype induced by the podocin variant R229Q plus a single pathogenic mutation. 26413278 2015
CUI: C3496337
Disease: Idiopathic Nephrotic Syndrome
Idiopathic Nephrotic Syndrome 		0.100 GeneticVariation disease CLINVAR A single-gene cause in 29.5% of cases of steroid-resistant nephrotic syndrome. 25349199 2015
CUI: C3496337
Disease: Idiopathic Nephrotic Syndrome
Idiopathic Nephrotic Syndrome 		0.100 CausalMutation disease CLINVAR A single-gene cause in 29.5% of cases of steroid-resistant nephrotic syndrome. 25349199 2015
CUI: C3496337
Disease: Idiopathic Nephrotic Syndrome
Idiopathic Nephrotic Syndrome 		0.100 GeneticVariation disease CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159 2015
CUI: C1868672
Disease: NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE
NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE 		0.100 CausalMutation disease CLINVAR Retrospective mutational analysis of NPHS1, NPHS2, WT1 and LAMB2 in children with steroid-resistant focal segmental glomerulosclerosis - a single-centre experience. 24856380 2014
CUI: C1868672
Disease: NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE
NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE 		0.100 GeneticVariation disease CLINVAR Mutation-dependent recessive inheritance of NPHS2-associated steroid-resistant nephrotic syndrome. 24509478 2014
CUI: C1868672
Disease: NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE
NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE 		0.100 GeneticVariation disease CLINVAR NPHS2 mutations in steroid-resistant nephrotic syndrome: a mutation update and the associated phenotypic spectrum. 24227627 2014
CUI: C3496337
Disease: Idiopathic Nephrotic Syndrome
Idiopathic Nephrotic Syndrome 		0.100 CausalMutation disease CLINVAR Retrospective mutational analysis of NPHS1, NPHS2, WT1 and LAMB2 in children with steroid-resistant focal segmental glomerulosclerosis - a single-centre experience. 24856380 2014
CUI: C3496337
Disease: Idiopathic Nephrotic Syndrome
Idiopathic Nephrotic Syndrome 		0.100 GeneticVariation disease CLINVAR Mutation-dependent recessive inheritance of NPHS2-associated steroid-resistant nephrotic syndrome. 24509478 2014
CUI: C3496337
Disease: Idiopathic Nephrotic Syndrome
Idiopathic Nephrotic Syndrome 		0.100 CausalMutation disease CLINVAR Rapid detection of monogenic causes of childhood-onset steroid-resistant nephrotic syndrome. 24742477 2014
CUI: C3496337
Disease: Idiopathic Nephrotic Syndrome
Idiopathic Nephrotic Syndrome 		0.100 GeneticVariation disease CLINVAR NPHS2 mutations in steroid-resistant nephrotic syndrome: a mutation update and the associated phenotypic spectrum. 24227627 2014
CUI: C1868672
Disease: NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE
NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE 		0.100 CausalMutation disease CLINVAR A molecular genetic analysis of childhood nephrotic syndrome in a cohort of Saudi Arabian families. 23595123 2013
CUI: C1868672
Disease: NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE
NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE 		0.100 GeneticVariation disease CLINVAR Genetic screening in adolescents with steroid-resistant nephrotic syndrome. 23515051 2013
CUI: C1868672
Disease: NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE
NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE 		0.100 CausalMutation disease CLINVAR NPHS2 p.V290M mutation in late-onset steroid-resistant nephrotic syndrome. 23242530 2013
CUI: C1868672
Disease: NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE
NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE 		0.100 GeneticVariation disease CLINVAR NPHS2 p.V290M mutation in late-onset steroid-resistant nephrotic syndrome. 23242530 2013
CUI: C1868672
Disease: NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE
NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE 		0.100 CausalMutation disease CLINVAR Mutational analysis in podocin-associated hereditary nephrotic syndrome in Polish patients: founder effect in the Kashubian population. 23645318 2013
CUI: C1868672
Disease: NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE
NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE 		0.100 GeneticVariation disease CLINVAR Mutational analysis in podocin-associated hereditary nephrotic syndrome in Polish patients: founder effect in the Kashubian population. 23645318 2013
CUI: C3496337
Disease: Idiopathic Nephrotic Syndrome
Idiopathic Nephrotic Syndrome 		0.100 CausalMutation disease CLINVAR Mutational analysis in podocin-associated hereditary nephrotic syndrome in Polish patients: founder effect in the Kashubian population. 23645318 2013