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: C1832446
Disease: Sparse eyebrow
Sparse eyebrow
phenotype Finding 31 6 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: 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: 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: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
group Cardiovascular Diseases Disease or Syndrome 925 294 0.200 None 0
CUI: C0152227
Disease: Excessive tearing
Excessive tearing
disease Eye Diseases Disease or Syndrome 26 2 0.100 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: 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: 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: C4531226
Disease: Abnormal perifollicular morphology
Abnormal perifollicular morphology
phenotype Anatomical Abnormality 1 0.100 None 0
CUI: C0036529
Disease: Myocardial Diseases, Secondary
Myocardial Diseases, Secondary
group Cardiovascular Diseases Disease or Syndrome 101 0.200 None 0
CUI: C0221228
Disease: Comedone
Comedone
disease Skin and Connective Tissue Diseases Disease or Syndrome 53 0.100 None 0
CUI: C0332563
Disease: Papule
Papule
phenotype Pathological Conditions, Signs and Symptoms Finding 76 131 0.100 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: C4024154
Disease: Sunken cheeks
Sunken cheeks
phenotype Finding 3 0.100 None 0
CUI: C0206634
Disease: Liposarcoma, Myxoid
Liposarcoma, Myxoid
disease Neoplasms Neoplastic Process 79 4 0.020 None 1.000 2 1989 1992
CUI: C0545074
Disease: Myxoid/Round Cell Liposarcoma
Myxoid/Round Cell Liposarcoma
disease Neoplasms Neoplastic Process 61 0.010 None 1.000 1 1992 1992
CUI: C0206631
Disease: Lipomatous neoplasm
Lipomatous neoplasm
disease Neoplasms Neoplastic Process 14 0.010 None 1.000 1 1992 1992
CUI: C3495949
Disease: Locally advanced breast cancer
Locally advanced breast cancer
disease Neoplastic Process 71 3 0.010 None 1.000 1 1997 1997
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction
disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 1800 680 0.010 None 1.000 1 1998 1998
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: C1611743
Disease: Familial (FPAH)
Familial (FPAH)
disease Disease or Syndrome 1075 276 0.020 None 1.000 2 1998 1999
CUI: C0020097
Disease: HTLV-I Infections
HTLV-I Infections
group Infections; Immune System Diseases Disease or Syndrome 134 5 0.010 None 1.000 1 1999 1999