MUC1, mucin 1, cell surface associated, 4582

N. diseases: 594; N. variants: 18
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1868139
Disease: Medullary cystic kidney disease 1
Medullary cystic kidney disease 1
0.640 Biomarker disease GENOMICS_ENGLAND
CUI: C2316810
Disease: Chronic kidney disease stage 5
Chronic kidney disease stage 5
0.130 Biomarker disease HPO
CUI: C0740394
Disease: Hyperuricemia
Hyperuricemia
0.120 Biomarker disease HPO
CUI: C0002871
Disease: Anemia
Anemia
0.110 Biomarker disease HPO
CUI: C0041349
Disease: Nephritis, Tubulointerstitial
Nephritis, Tubulointerstitial
0.110 Biomarker disease HPO
CUI: C1969372
Disease: Tubulointerstitial fibrosis
Tubulointerstitial fibrosis
0.110 Biomarker phenotype HPO
CUI: C0017658
Disease: Glomerulonephritis
Glomerulonephritis
0.100 Biomarker disease HPO
CUI: C0018099
Disease: Gout
Gout
0.100 Biomarker disease HPO
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.100 Biomarker group HPO
CUI: C0020649
Disease: Hypotension
Hypotension
0.100 Biomarker phenotype HPO
CUI: C0178664
Disease: Glomerulosclerosis (disorder)
Glomerulosclerosis (disorder)
0.100 Biomarker disease HPO
CUI: C0266295
Disease: Congenital hypoplasia of kidney
Congenital hypoplasia of kidney
0.100 Biomarker disease HPO
CUI: C0700225
Disease: Serum creatinine raised
Serum creatinine raised
0.100 Biomarker phenotype HPO
Decreased glomerular filtration rate
0.100 Biomarker phenotype HPO
CUI: C1846347
Disease: Renal salt wasting
Renal salt wasting
0.100 Biomarker phenotype HPO
CUI: C1858395
Disease: Tubular atrophy
Tubular atrophy
0.100 Biomarker phenotype HPO
Tubular basement membrane disintegration
0.100 Biomarker phenotype HPO
CUI: C1968619
Disease: Renal corticomedullary cysts
Renal corticomedullary cysts
0.100 Biomarker disease HPO
CUI: C1969371
Disease: Impaired renal uric acid clearance
Impaired renal uric acid clearance
0.100 Biomarker phenotype HPO
CUI: C4025730
Disease: Renal cortical atrophy
Renal cortical atrophy
0.100 Biomarker disease HPO
CUI: C4521759
Disease: Tubular Atrophy Assessment
Tubular Atrophy Assessment
0.100 Biomarker phenotype HPO
CUI: C4551583
Disease: Cerebral cortical atrophy
Cerebral cortical atrophy
0.100 Biomarker disease HPO
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 AlteredExpression group BEFREE The human tumour-associated epithelial mucins are coded by an expressed hypervariable gene locus PUM. 3600778 1987
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.100 GeneticVariation disease BEFREE Thus the genetically determined variation at the PUM locus accounts for much of the electrophoretic heterogeneity of the mucin-type glycoproteins present in breast cancer and serum from breast cancer patients that has been reported previously. 3168399 1988
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 GeneticVariation group BEFREE Expression of the hypervariable PUM locus in normal and malignant lung: the tumor-associated epitopes are present but masked in normal tissue. 2458884 1988