HSPG2, heparan sulfate proteoglycan 2, 3339

N. diseases: 405; N. variants: 11
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: C1850644
Disease: Anterior bowing of long bones
Anterior bowing of long bones 		phenotype Finding 1 0.100 None 0
CUI: C4021969
Disease: Abnormally straight spine
Abnormally straight spine 		phenotype Anatomical Abnormality 1 0.100 None 0
CUI: C4025034
Disease: Abnormality of femoral epiphysis
Abnormality of femoral epiphysis 		disease Anatomical Abnormality 1 0.100 None 0
CUI: C1850640
Disease: Long eyelashes in irregular rows
Long eyelashes in irregular rows 		phenotype Finding 2 0.100 None 0
CUI: C1857100
Disease: Dyssegmental dysplasia
Dyssegmental dysplasia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Disease or Syndrome 3 0.830 None 1.000 9 1999 2018
CUI: C0017105
Disease: Gas Gangrene
Gas Gangrene 		disease Infections Disease or Syndrome 3 0.020 None 1.000 2 2012 2018
CUI: C4266441
Disease: Thyroid tumor metastasis
Thyroid tumor metastasis 		disease Neoplastic Process 3 0.010 None 1.000 1 2003 2003
CUI: C1832130
Disease: Pursed lips
Pursed lips 		phenotype Finding 3 0.100 None 0
CUI: C3257801
Disease: Dextrotransposition of aorta
Dextrotransposition of aorta 		disease Cardiovascular Diseases Congenital Abnormality 4 0.200 None 1.000 4 1999 2003
CUI: C1857101
Disease: Anisospondyly
Anisospondyly 		phenotype Finding 4 0.100 None 0
CUI: C4024745
Disease: Aplasia/Hypoplasia affecting the eye
Aplasia/Hypoplasia affecting the eye 		phenotype Finding 4 0.100 None 0
CUI: C3714899
Disease: SYMPHALANGISM, PROXIMAL, 1A
SYMPHALANGISM, PROXIMAL, 1A 		disease Musculoskeletal Diseases Disease or Syndrome 5 12 0.010 None 1.000 1 2014 2014
CUI: C0409336
Disease: Flexion contracture-shoulder
Flexion contracture-shoulder 		disease Acquired Abnormality 5 1 0.100 None 0
CUI: C4022858
Disease: Elevated aldolase level
Elevated aldolase level 		phenotype Finding 5 3 0.100 None 0
CUI: C1837341
Disease: Transposition of the Great Arteries, Dextro-Looped 1
Transposition of the Great Arteries, Dextro-Looped 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 6 12 0.200 None 1.000 4 1999 2003
CUI: C0347073
Disease: Carcinoma in situ of mouth
Carcinoma in situ of mouth 		disease Neoplasms; Stomatognathic Diseases Neoplastic Process 6 0.020 None 1.000 2 2008 2011
CUI: C2063407
Disease: viral hepatitis E infection
viral hepatitis E infection 		disease Digestive System Diseases; Infections Disease or Syndrome 6 0.010 None 1.000 1 2011 2011
CUI: C4054043
Disease: Secondary Peripheral Chondrosarcoma
Secondary Peripheral Chondrosarcoma 		disease Neoplastic Process 6 0.010 None 1.000 1 2007 2007
CUI: C0877055
Disease: Acute Generalized Exanthematous Pustulosis
Acute Generalized Exanthematous Pustulosis 		disease Skin and Connective Tissue Diseases; Immune System Diseases; Chemically-Induced Disorders Disease or Syndrome 7 0.010 None 1.000 1 2011 2011
CUI: C0333161
Disease: Pseudocyst
Pseudocyst 		disease Pathological Conditions, Signs and Symptoms; Neoplasms Acquired Abnormality 8 0.010 None 1.000 1 2000 2000
CUI: C0543891
Disease: Neuroleptic-Induced Tardive Dyskinesia
Neuroleptic-Induced Tardive Dyskinesia 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Chemically-Induced Disorders Disease or Syndrome 8 2 0.010 None 1.000 1 2010 2010
CUI: C4020966
Disease: Abnormally ossified vertebrae
Abnormally ossified vertebrae 		disease Anatomical Abnormality 8 0.100 None 0
CUI: C0553604
Disease: Myotonic Disorders
Myotonic Disorders 		group Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 9 0.210 None 1.000 6 1999 2012
CUI: C4552003
Disease: EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 1
EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases Disease or Syndrome 9 7 0.010 None 1.000 1 2017 2017
CUI: C3536741
Disease: Discordant ventriculoarterial connection
Discordant ventriculoarterial connection 		disease Congenital Abnormality 10 1 0.200 None 1.000 4 1999 2003