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: C0679254
Disease: Disease recurrence
Disease recurrence 		phenotype Finding 1 2 0.100 None 1.000 1 1 2017 2017
CUI: C4025176
Disease: Non-acidotic proximal tubulopathy
Non-acidotic proximal tubulopathy 		disease Disease or Syndrome 1 0.100 None 0
CUI: C1857277
Disease: Donnai-Barrow syndrome
Donnai-Barrow syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 2 18 0.960 strong 1.000 9 18 2003 2018
CUI: C0454600
Disease: Extrapyramidal dysarthria
Extrapyramidal dysarthria 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 2 0.010 None 1.000 1 2019 2019
CUI: C0586392
Disease: Parkinsonian tremor
Parkinsonian tremor 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 2 0.010 None 1.000 1 2019 2019
CUI: C3536587
Disease: Grand mal status epilepticus, refractory
Grand mal status epilepticus, refractory 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 2 0.010 None 1.000 1 2019 2019
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: C0920233
Disease: Pisa syndrome
Pisa syndrome 		disease Disease or Syndrome 4 0.010 None 1.000 1 2018 2018
CUI: C1839606
Disease: Low-molecular-weight proteinuria
Low-molecular-weight proteinuria 		phenotype Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Finding 4 1 0.100 None 0
CUI: C1857280
Disease: Infra-orbital crease
Infra-orbital crease 		phenotype Finding 4 1 0.100 None 0
CUI: C2931187
Disease: Nephropathic cystinosis
Nephropathic cystinosis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 5 55 0.010 None 1.000 1 2019 2019
CUI: C0264162
Disease: Camptocormia
Camptocormia 		disease Musculoskeletal Diseases; Nervous System Diseases Acquired Abnormality 8 2 0.010 None 1.000 1 2017 2017
CUI: C0015398
Disease: Eye Diseases, Hereditary
Eye Diseases, Hereditary 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 9 0.300 None 1.000 1 2007 2007
CUI: C0221169
Disease: Hemiballismus
Hemiballismus 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 9 0.010 None 1.000 1 2019 2019
CUI: C1853486
Disease: Widow's peak
Widow's peak 		disease Finding 9 0.100 None 0
CUI: C1847501
Disease: Glut1 Deficiency Syndrome
Glut1 Deficiency Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 10 7 0.010 None 1.000 1 2018 2018
CUI: C1955603
Disease: Deaf-Blind Disorders
Deaf-Blind Disorders 		group Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 11 2 0.010 None 1.000 1 2018 2018
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: C1691779
Disease: Sensory hearing loss
Sensory hearing loss 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 14 0.300 None 1.000 1 2007 2007
CUI: C1857395
Disease: De Toni-Debre-Fanconi Syndrome
De Toni-Debre-Fanconi Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 14 2 0.010 None 1.000 1 1999 1999
CUI: C0752207
Disease: Familial Dystonia
Familial Dystonia 		disease Nervous System Diseases Disease or Syndrome 15 0.010 None 1.000 1 2009 2009
CUI: C4054325
Disease: Obesity Related Glomerulopathy
Obesity Related Glomerulopathy 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 16 0.010 None 1.000 1 2019 2019
CUI: C0011981
Disease: Diaphragmatic Eventration
Diaphragmatic Eventration 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Congenital Abnormality 16 6 0.100 None 0
CUI: C0265253
Disease: Stickler syndrome (disorder)
Stickler syndrome (disorder) 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases Disease or Syndrome 17 8 0.010 None 1.000 1 2014 2014