LRP4, LDL receptor related protein 4, 4038

N. diseases: 151; 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: C3280402
Disease: SCLEROSTEOSIS 2
SCLEROSTEOSIS 2 		disease Disease or Syndrome 1 3 0.820 None 0.667 3 3 2011 2018
CUI: C4225377
Disease: MYASTHENIC SYNDROME, CONGENITAL, 17
MYASTHENIC SYNDROME, CONGENITAL, 17 		disease Disease or Syndrome 1 2 0.600 strong 1.000 2 2 2014 2015
CUI: C1142081
Disease: Chronic lymphocytic leukaemia transformation
Chronic lymphocytic leukaemia transformation 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 1 0.010 None 1.000 1 2011 2011
CUI: C1859309
Disease: Syndactyly Cenani Lenz type
Syndactyly Cenani Lenz type 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 2 9 0.780 None 0.889 9 9 2003 2020
CUI: C4024188
Disease: Curved distal phalanges of the hand
Curved distal phalanges of the hand 		disease Anatomical Abnormality 2 0.100 None 0
CUI: C4023728
Disease: 1-5 finger syndactyly
1-5 finger syndactyly 		disease Congenital Abnormality 3 1 0.100 None 1.000 1 1 2017 2017
CUI: C0020496
Disease: Hyperostosis of skull
Hyperostosis of skull 		disease Musculoskeletal Diseases Disease or Syndrome 4 0.200 None 0
CUI: C0265736
Disease: Congenital anomaly of nose
Congenital anomaly of nose 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases Congenital Abnormality 6 0.100 None 0
CUI: C0265301
Disease: Sclerosteosis
Sclerosteosis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 7 3 0.740 None 1.000 5 2 2011 2018
CUI: C0432055
Disease: Simple syndactyly of fingers - first web
Simple syndactyly of fingers - first web 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Congenital Abnormality 9 0.100 None 0
CUI: C4281601
Disease: Foot oligodactyly
Foot oligodactyly 		phenotype Anatomical Abnormality 9 1 0.100 None 0
CUI: C0524730
Disease: Odontome
Odontome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Congenital Abnormality 10 0.300 None 1.000 1 2005 2005
CUI: C1835796
Disease: Crossed fused renal ectopia
Crossed fused renal ectopia 		phenotype Finding 10 0.100 None 0
CUI: C4021398
Disease: Metacarpal synostosis
Metacarpal synostosis 		disease Anatomical Abnormality 11 0.010 None 1.000 1 2019 2019
CUI: C1844555
Disease: Absent toenail
Absent toenail 		phenotype Pathological Conditions, Signs and Symptoms Congenital Abnormality 11 0.100 None 0
CUI: C4020952
Disease: Fingernail dysplasia
Fingernail dysplasia 		disease Disease or Syndrome 11 0.100 None 0
CUI: C0265553
Disease: Polysyndactyly
Polysyndactyly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 12 1 0.300 None 1.000 1 2005 2005
CUI: C0085619
Disease: Orthopnea
Orthopnea 		phenotype Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Finding 13 0.100 None 0
CUI: C1853952
Disease: Decreased miniature endplate potentials
Decreased miniature endplate potentials 		phenotype Finding 13 0.100 None 0
CUI: C4022584
Disease: Fatigable weakness of neck muscles
Fatigable weakness of neck muscles 		phenotype Finding 13 0.100 None 0
CUI: C1835473
Disease: Diaphyseal thickening
Diaphyseal thickening 		phenotype Finding 14 0.100 None 0
CUI: C4025615
Disease: Decreased size of nerve terminals
Decreased size of nerve terminals 		disease Anatomical Abnormality 15 0.100 None 0
CUI: C2228039
Disease: Ankle weakness
Ankle weakness 		phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Finding 16 0.100 None 0
CUI: C3279725
Disease: Hip flexor weakness
Hip flexor weakness 		phenotype Finding 16 1 0.100 None 0
CUI: C4073190
Disease: Abnormality of masticatory muscle
Abnormality of masticatory muscle 		phenotype Anatomical Abnormality 17 0.100 None 0