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: C0263429
Disease: Atrophoderma vermiculatum
Atrophoderma vermiculatum 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 1 0.300 None 1.000 1 2015 2015
CUI: C4531226
Disease: Abnormal perifollicular morphology
Abnormal perifollicular morphology 		phenotype Anatomical Abnormality 1 0.100 None 0
CUI: C0342885
Disease: Secondary hypercholesterolemia
Secondary hypercholesterolemia 		disease Nutritional and Metabolic Diseases Disease or Syndrome 3 0.010 None 1.000 1 2017 2017
CUI: C0343057
Disease: Keratosis pilaris decalvans
Keratosis pilaris decalvans 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Congenital Abnormality 3 0.300 None 1.000 1 2015 2015
CUI: C4024154
Disease: Sunken cheeks
Sunken cheeks 		phenotype Finding 3 0.100 None 0
CUI: C0263428
Disease: Burnett Schwartz Berberian syndrome
Burnett Schwartz Berberian syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 5 1 0.520 None 1.000 2 1 2015 2018
CUI: C0154088
Disease: Carcinoma in situ of prostate
Carcinoma in situ of prostate 		disease Neoplasms; Male Urogenital Diseases Neoplastic Process 6 0.200 None 1.000 1 2003 2003
CUI: C0265286
Disease: Dyggve-Melchior-Clausen syndrome
Dyggve-Melchior-Clausen syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome 8 8 0.010 None 1.000 1 2013 2013
CUI: C0007852
Disease: Cervical Migraine Syndrome
Cervical Migraine Syndrome 		disease Nervous System Diseases Disease or Syndrome 9 0.300 None 1.000 1 2011 2011
CUI: C0018984
Disease: Hemicrania migraine
Hemicrania migraine 		disease Nervous System Diseases Disease or Syndrome 9 0.300 None 1.000 1 2011 2011
CUI: C0270858
Disease: Abdominal Migraine
Abdominal Migraine 		disease Nervous System Diseases Disease or Syndrome 9 0.300 None 1.000 1 2011 2011
CUI: C0338489
Disease: Status Migrainosus
Status Migrainosus 		disease Nervous System Diseases Disease or Syndrome 9 0.300 None 1.000 1 2011 2011
CUI: C0521664
Disease: Acute Confusional Migraine
Acute Confusional Migraine 		disease Nervous System Diseases Disease or Syndrome 9 0.300 None 1.000 1 2011 2011
CUI: C0700438
Disease: Sick Headaches
Sick Headaches 		disease Nervous System Diseases Disease or Syndrome 9 0.300 None 1.000 1 2011 2011
CUI: C0406704
Disease: Rudiger syndrome 1
Rudiger syndrome 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Stomatognathic Diseases Disease or Syndrome 10 6 0.010 None 1.000 1 2013 2013
CUI: C0035320
Disease: Retinal Neovascularization
Retinal Neovascularization 		phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases Pathologic Function 12 0.200 None 1.000 1 2006 2006
CUI: C0040250
Disease: Tinea Capitis
Tinea Capitis 		disease Infections; Skin and Connective Tissue Diseases Disease or Syndrome 13 0.010 None 1.000 1 2011 2011
CUI: C0206631
Disease: Lipomatous neoplasm
Lipomatous neoplasm 		disease Neoplasms Neoplastic Process 14 0.010 None 1.000 1 1992 1992
CUI: C0151281
Disease: Genital ulcers
Genital ulcers 		disease Disease or Syndrome 15 6 0.010 None 1.000 1 2018 2018
CUI: C3840214
Disease: High-functioning autism
High-functioning autism 		disease Mental Disorders Mental or Behavioral Dysfunction 15 5 0.010 None 1.000 1 2019 2019
CUI: C1863051
Disease: ALZHEIMER DISEASE 2
ALZHEIMER DISEASE 2 		disease Nervous System Diseases; Mental Disorders Disease or Syndrome 16 2 0.010 None 1.000 1 1998 1998
CUI: C1843005
Disease: Absent eyelashes
Absent eyelashes 		phenotype Congenital Abnormality 21 1 0.100 None 0
CUI: C0282548
Disease: Leukostasis
Leukostasis 		disease Hemic and Lymphatic Diseases Disease or Syndrome 25 0.010 None 1.000 1 2017 2017
CUI: C0152227
Disease: Excessive tearing
Excessive tearing 		disease Eye Diseases Disease or Syndrome 26 2 0.100 None 0
CUI: C0023522
Disease: Leukodystrophy, Metachromatic
Leukodystrophy, Metachromatic 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 27 158 0.010 None 1.000 1 2013 2013