LRP1, LDL receptor related protein 1, 4035

N. diseases: 252; N. variants: 23
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: C0221228
Disease: Comedone
Comedone 		disease Skin and Connective Tissue Diseases Disease or Syndrome 53 0.100 None 0
CUI: C0019284
Disease: Diaphragmatic Hernia
Diaphragmatic Hernia 		phenotype Pathological Conditions, Signs and Symptoms Disease or Syndrome 78 3 0.200 None 0
CUI: C1832446
Disease: Sparse eyebrow
Sparse eyebrow 		phenotype Finding 31 6 0.100 None 0
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		group Cardiovascular Diseases Disease or Syndrome 925 294 0.200 None 0
CUI: C0041834
Disease: Erythema
Erythema 		phenotype Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome 227 8 0.100 None 0
CUI: C0265706
Disease: Gastroschisis
Gastroschisis 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 31 8 0.200 None 0
CUI: C0152227
Disease: Excessive tearing
Excessive tearing 		disease Eye Diseases Disease or Syndrome 26 2 0.100 None 0
CUI: C0332563
Disease: Papule
Papule 		phenotype Pathological Conditions, Signs and Symptoms Finding 76 131 0.100 None 0
CUI: C1843005
Disease: Absent eyelashes
Absent eyelashes 		phenotype Congenital Abnormality 21 1 0.100 None 0
CUI: C1306503
Disease: Congenital exomphalos
Congenital exomphalos 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 235 0.200 None 0
CUI: C1519353
Disease: Skin Papule
Skin Papule 		phenotype Skin and Connective Tissue Diseases Finding 74 0.100 None 0
CUI: C0033141
Disease: Cardiomyopathies, Primary
Cardiomyopathies, Primary 		group Cardiovascular Diseases Disease or Syndrome 108 1 0.200 None 0
CUI: C0036529
Disease: Myocardial Diseases, Secondary
Myocardial Diseases, Secondary 		group Cardiovascular Diseases Disease or Syndrome 101 0.200 None 0
CUI: C0263383
Disease: Keratosis pilaris
Keratosis pilaris 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Acquired Abnormality 30 4 0.100 None 0
CUI: C0795690
Disease: Congenital omphalocele
Congenital omphalocele 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 85 13 0.200 None 0
CUI: C4531226
Disease: Abnormal perifollicular morphology
Abnormal perifollicular morphology 		phenotype Anatomical Abnormality 1 0.100 None 0
CUI: C4024154
Disease: Sunken cheeks
Sunken cheeks 		phenotype Finding 3 0.100 None 0
CUI: C0750927
Disease: Apraxia, Developmental Verbal
Apraxia, Developmental Verbal 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 80 21 0.010 None < 0.001 1 1 2014 2014
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders 		group Nervous System Diseases Disease or Syndrome 1515 85 0.020 None 0.500 2 2004 2010
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis 		disease Cardiovascular Diseases Disease or Syndrome 2006 267 0.090 None 0.667 9 2002 2019
CUI: C0153676
Disease: Secondary malignant neoplasm of lung
Secondary malignant neoplasm of lung 		disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 1370 20 0.030 None 0.667 3 2007 2019
CUI: C0162871
Disease: Aortic Aneurysm, Abdominal
Aortic Aneurysm, Abdominal 		disease Cardiovascular Diseases Disease or Syndrome 586 90 0.190 None 0.700 10 3 2011 2017
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis 		disease Cardiovascular Diseases Disease or Syndrome 2044 281 0.100 None 0.700 10 2001 2019
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		disease Cardiovascular Diseases Disease or Syndrome 1708 1577 0.130 None 0.750 4 2 2000 2019
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 4173 1142 0.060 None 0.833 6 1998 2019