LRP1, LDL receptor related protein 1, 4035

N. diseases: 252; N. variants: 23
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0263428
Disease: Burnett Schwartz Berberian syndrome
Burnett Schwartz Berberian syndrome
0.520 Biomarker disease CTD_human
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.420 GeneticVariation disease UNIPROT
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.300 Biomarker disease MGD
CUI: C0019284
Disease: Diaphragmatic Hernia
Diaphragmatic Hernia
0.200 Biomarker phenotype MGD
CUI: C0033141
Disease: Cardiomyopathies, Primary
Cardiomyopathies, Primary
0.200 Biomarker group MGD
CUI: C0036529
Disease: Myocardial Diseases, Secondary
Myocardial Diseases, Secondary
0.200 Biomarker group MGD
CUI: C0265706
Disease: Gastroschisis
Gastroschisis
0.200 Biomarker disease MGD
CUI: C0795690
Disease: Congenital omphalocele
Congenital omphalocele
0.200 Biomarker disease MGD
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
0.200 Biomarker group MGD
CUI: C1306503
Disease: Congenital exomphalos
Congenital exomphalos
0.200 Biomarker disease MGD
CUI: C0041834
Disease: Erythema
Erythema
0.100 Biomarker phenotype HPO
CUI: C0152227
Disease: Excessive tearing
Excessive tearing
0.100 Biomarker disease HPO
CUI: C0221228
Disease: Comedone
Comedone
0.100 Biomarker disease HPO
CUI: C0263383
Disease: Keratosis pilaris
Keratosis pilaris
0.100 Biomarker disease HPO
CUI: C0332563
Disease: Papule
Papule
0.100 Biomarker phenotype HPO
CUI: C1519353
Disease: Skin Papule
Skin Papule
0.100 Biomarker phenotype HPO
CUI: C1832446
Disease: Sparse eyebrow
Sparse eyebrow
0.100 Biomarker phenotype HPO
CUI: C1843005
Disease: Absent eyelashes
Absent eyelashes
0.100 Biomarker phenotype HPO
CUI: C4024154
Disease: Sunken cheeks
Sunken cheeks
0.100 Biomarker phenotype HPO
CUI: C4531226
Disease: Abnormal perifollicular morphology
Abnormal perifollicular morphology
0.100 Biomarker phenotype HPO
CUI: C0206634
Disease: Liposarcoma, Myxoid
Liposarcoma, Myxoid
0.020 AlteredExpression disease BEFREE Of particular interest is the frequent involvement of the 12q13-14 segment in clonal abnormalities in lipomas and myxoid liposarcomas, and it is possible that LRP may play a role in the pathogenesis of such tumors. 2548950 1989
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 Biomarker group BEFREE These results suggest that APR is not involved directly in the genetic changes that underlie development or progression of these tumors. 1318779 1992
CUI: C0206634
Disease: Liposarcoma, Myxoid
Liposarcoma, Myxoid
0.020 GeneticVariation disease BEFREE Examination of myxoid liposarcomas and lipomas bearing the characteristic translocations (12;16)(q13;p11) or (12;variable)(q14;variable), respectively, excluded the breakpoints from within a 750-kb region surrounding the APR gene. 1318779 1992
CUI: C0206631
Disease: Lipomatous neoplasm
Lipomatous neoplasm
0.010 Biomarker disease BEFREE The proximity of APR to these breakpoints, coupled with its presumed role in lipid metabolism and possible affect on cell proliferation, suggest it as a candidate gene for adipose tissue tumor formation. 1318779 1992
CUI: C0545074
Disease: Myxoid/Round Cell Liposarcoma
Myxoid/Round Cell Liposarcoma
0.010 GeneticVariation disease BEFREE Putative apolipoprotein receptor gene (LRP, A2MR) is not rearranged in either myxoid liposarcoma or lipomas with translocations in 12q13-14. 1318779 1992