HGD, homogentisate 1,2-dioxygenase, 3081

N. diseases: 70; N. variants: 69
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: C0002066
Disease: Alkaptonuria
Alkaptonuria 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 13 68 1.000 definitive 0.982 56 68 1955 2019
CUI: C2931645
Disease: Ochronosis, hereditary
Ochronosis, hereditary 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 1 0.300 definitive 1.000 6 1955 1998
CUI: C0003864
Disease: Arthritis
Arthritis 		disease Musculoskeletal Diseases Disease or Syndrome 1072 69 0.110 None 1.000 1 1998 1998
CUI: C0004604
Disease: Back Pain
Back Pain 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 110 10 0.110 None 1.000 1 2010 2010
CUI: C0022408
Disease: Arthropathy
Arthropathy 		group Musculoskeletal Diseases Disease or Syndrome 187 10 0.100 None 0
CUI: C0162298
Disease: Joint stiffness
Joint stiffness 		phenotype Musculoskeletal Diseases Sign or Symptom 163 14 0.100 None 0
CUI: C0158266
Disease: Intervertebral Disc Degeneration
Intervertebral Disc Degeneration 		disease Musculoskeletal Diseases Disease or Syndrome 342 47 0.100 None 0
CUI: C0152031
Disease: Joint swelling
Joint swelling 		phenotype Pathological Conditions, Signs and Symptoms Finding 33 0.100 None 0
CUI: C3278509
Disease: Spinal fusion
Spinal fusion 		disease Anatomical Abnormality 67 2 0.100 None 0
CUI: C0033581
Disease: prostatitis
prostatitis 		disease Male Urogenital Diseases Disease or Syndrome 86 1 0.100 None 0
CUI: C1611184
Disease: Calcification of coronary artery
Calcification of coronary artery 		phenotype Nutritional and Metabolic Diseases; Cardiovascular Diseases Pathologic Function 51 205 0.100 None 0
CUI: C0919997
Disease: Thickened Achilles tendon
Thickened Achilles tendon 		disease Finding 2 0.100 None 0
CUI: C0919718
Disease: Calcification of mitral valve
Calcification of mitral valve 		disease Disease or Syndrome 8 2 0.100 None 0
CUI: C0853087
Disease: Nail abnormality
Nail abnormality 		phenotype Pathological Conditions, Signs and Symptoms Anatomical Abnormality 67 11 0.100 None 0
CUI: C0238621
Disease: Aminoaciduria
Aminoaciduria 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 68 1 0.100 None 0
CUI: C0262361
Disease: Growth abnormality
Growth abnormality 		phenotype Finding 49 5 0.100 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: C0542514
Disease: Blue sclera
Blue sclera 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Finding 70 13 0.100 None 0
CUI: C0428791
Disease: Aortic valve calcification
Aortic valve calcification 		disease Nutritional and Metabolic Diseases; Cardiovascular Diseases Disease or Syndrome 79 4 0.100 None 0
CUI: C0410607
Disease: Intervertebral disk calcification
Intervertebral disk calcification 		disease Musculoskeletal Diseases Disease or Syndrome 2 0.100 None 0
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis 		disease Musculoskeletal Diseases Disease or Syndrome 1827 247 0.100 None 0
CUI: C0392525
Disease: Nephrolithiasis
Nephrolithiasis 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 242 99 0.100 None 0
CUI: C4025860
Disease: Hearing abnormality
Hearing abnormality 		disease Finding 24 5 0.100 None 0
CUI: C0003486
Disease: Aortic Aneurysm
Aortic Aneurysm 		disease Cardiovascular Diseases Disease or Syndrome 278 19 0.100 None 0
CUI: C0003862
Disease: Arthralgia
Arthralgia 		phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases Sign or Symptom 248 27 0.100 None 0