LRP2, LDL receptor related protein 2, 4036

N. diseases: 254; N. variants: 51
Source: ALL
Disease Type Disease Class Semantic Type N. genes d N. SNPs d Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
CUI: C3160718
Disease: PARKINSON DISEASE, LATE-ONSET
PARKINSON DISEASE, LATE-ONSET
disease Disease or Syndrome 247 76 0.100 None 0.909 11 2017 2020
CUI: C0426980
Disease: Motor symptoms
Motor symptoms
phenotype Sign or Symptom 100 15 0.100 None 0.900 10 2017 2019
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate
phenotype Diagnostic Procedure 399 1033 0.100 None 1.000 9 10 2016 2019
CUI: C4732730
Disease: Blood spots
Blood spots
disease Disease or Syndrome 117 0.060 None 1.000 6 2004 2019
CUI: C0202239
Disease: Uric acid measurement (procedure)
Uric acid measurement (procedure)
phenotype Laboratory Procedure 264 1463 0.100 None 1.000 5 6 2010 2019
Creatinine measurement, serum (procedure)
phenotype Laboratory Procedure 124 243 0.100 None 1.000 4 4 2016 2018
[D]Sleep disturbances (& [hypersomnia] or [insomnia])
phenotype Sign or Symptom 69 23 0.020 None 1.000 2 2019 2019
CUI: C1969372
Disease: Tubulointerstitial fibrosis
Tubulointerstitial fibrosis
phenotype Disease or Syndrome 328 0.020 None 1.000 2 2017 2018
CUI: C0042834
Disease: Vital capacity
Vital capacity
phenotype Clinical Attribute 430 746 0.100 None 1.000 1 1 2019 2019
Low density lipoprotein cholesterol measurement
phenotype Laboratory Procedure 483 1142 0.100 None 1.000 1 2 2012 2012
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement
phenotype Laboratory Procedure 269 555 0.100 None 1.000 1 2 2012 2012
CUI: C0575157
Disease: Deformity of spine
Deformity of spine
disease Anatomical Abnormality 58 2 0.010 None 1.000 1 2017 2017
CUI: C0679254
Disease: Disease recurrence
Disease recurrence
phenotype Finding 1 2 0.100 None 1.000 1 1 2017 2017
CUI: C0871189
Disease: Psychotic symptom
Psychotic symptom
phenotype Sign or Symptom 86 21 0.010 None 1.000 1 2017 2017
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure
phenotype Clinical Attribute 843 1931 0.100 None 1.000 1 1 2015 2015
CUI: C0920233
Disease: Pisa syndrome
Pisa syndrome
disease Disease or Syndrome 4 0.010 None 1.000 1 2018 2018
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement
phenotype Laboratory Procedure 486 1243 0.100 None 1.000 1 1 2012 2012
CUI: C1536088
Disease: Positive myoclonus
Positive myoclonus
phenotype Sign or Symptom 3 0.010 None 1.000 1 2019 2019
CUI: C4049471
Disease: End stage Parkinson's disease
End stage Parkinson's disease
disease Disease or Syndrome 3 0.010 None 1.000 1 2019 2019
CUI: C0239234
Disease: Low set ears
Low set ears
disease Congenital Abnormality 489 64 0.100 None 0
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure
phenotype Finding 391 49 0.100 None 0
CUI: C0426429
Disease: Broad nasal tip
Broad nasal tip
phenotype Finding 125 8 0.100 None 0
CUI: C0431478
Disease: Posteriorly rotated ear
Posteriorly rotated ear
disease Congenital Abnormality 176 23 0.100 None 0
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease Mental or Behavioral Dysfunction 1825 553 0.100 None 0
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge
phenotype Finding 426 39 0.100 None 0