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: C0030567
Disease: Parkinson Disease
Parkinson Disease 		disease Nervous System Diseases Disease or Syndrome 2078 990 0.100 None 0.979 47 2010 2019
CUI: C0013421
Disease: Dystonia
Dystonia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 453 97 0.100 None 1.000 23 2005 2019
CUI: C0393593
Disease: Dystonia Disorders
Dystonia Disorders 		group Nervous System Diseases Disease or Syndrome 167 37 0.100 None 1.000 23 2005 2019
CUI: C0270736
Disease: Essential Tremor
Essential Tremor 		disease Nervous System Diseases Disease or Syndrome 122 79 0.100 None 1.000 12 2017 2019
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: C0040822
Disease: Tremor
Tremor 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 528 52 0.100 None 1.000 10 2003 2019
CUI: C0013384
Disease: Dyskinetic syndrome
Dyskinetic syndrome 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 316 42 0.080 None 1.000 8 2003 2019
CUI: C1704378
Disease: Heymann Nephritis
Heymann Nephritis 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Immune System Diseases Disease or Syndrome 13 0.070 None 1.000 7 1989 2007
CUI: C4732730
Disease: Blood spots
Blood spots 		disease Disease or Syndrome 117 0.060 None 1.000 6 2004 2019
CUI: C0014544
Disease: Epilepsy
Epilepsy 		disease Nervous System Diseases Disease or Syndrome 1215 339 0.060 None 1.000 6 2018 2020
CUI: C0040517
Disease: Gilles de la Tourette syndrome
Gilles de la Tourette syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders Disease or Syndrome 177 63 0.060 None 1.000 6 2017 2019
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		group Nervous System Diseases Disease or Syndrome 362 247 0.050 None 0.800 5 2017 2019
CUI: C0341703
Disease: Adult Fanconi syndrome
Adult Fanconi syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 32 0.220 None 1.000 5 1996 2017
CUI: C0021125
Disease: Impulsive Behavior
Impulsive Behavior 		phenotype Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 276 69 0.040 None 1.000 4 2017 2019
CUI: C0011265
Disease: Presenile dementia
Presenile dementia 		disease Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 718 159 0.040 None 0.750 4 2017 2018
CUI: C0011881
Disease: Diabetic Nephropathy
Diabetic Nephropathy 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 1189 238 0.040 None 1.000 4 2011 2019
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		group Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 2803 824 0.040 None 1.000 4 2015 2018
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders 		group Nervous System Diseases Disease or Syndrome 373 95 0.040 None 1.000 4 2012 2019
CUI: C0017665
Disease: Membranous glomerulonephritis
Membranous glomerulonephritis 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Immune System Diseases Disease or Syndrome 197 33 0.230 None 0.750 4 1989 2005
CUI: C0497327
Disease: Dementia
Dementia 		disease Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 816 176 0.040 None 0.750 4 2017 2018
CUI: C0022658
Disease: Kidney Diseases
Kidney Diseases 		group Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 1180 140 0.330 None 1.000 4 2007 2019
CUI: C0028768
Disease: Obsessive-Compulsive Disorder
Obsessive-Compulsive Disorder 		disease Mental Disorders Mental or Behavioral Dysfunction 175 112 0.040 None 1.000 4 2018 2019
CUI: C0015624
Disease: Fanconi Syndrome
Fanconi Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 26 4 0.220 None 1.000 4 1996 2019
CUI: C0878681
Disease: Dent's disease
Dent's disease 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 23 12 0.030 None 1.000 3 2004 2018