CCNQ, cyclin Q, 92002

N. diseases: 56; N. variants: 4
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.
TOE SYNDACTYLY, TELECANTHUS, AND ANOGENITAL AND RENAL MALFORMATIONS
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases Disease or Syndrome; Congenital Abnormality 10 3 0.760 None 1.000 11 3 1996 2018
Diabetes Mellitus, Non-Insulin-Dependent
disease Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 3134 2672 0.100 None 1.000 1 1 2013 2013
CUI: C0080218
Disease: Tethered Cord Syndrome
Tethered Cord Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 41 2 0.010 None 1.000 1 2017 2017
CUI: C0153452
Disease: Malignant neoplasm of gallbladder
Malignant neoplasm of gallbladder
disease Digestive System Diseases; Neoplasms Neoplastic Process 425 81 0.010 None 1.000 1 2018 2018
CUI: C0265660
Disease: Syndactyly of the toes
Syndactyly of the toes
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 129 11 0.110 None 1.000 1 2016 2016
CUI: C0003466
Disease: Anus, Imperforate
Anus, Imperforate
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Congenital Abnormality 139 9 0.100 None 0
CUI: C0003504
Disease: Aortic Valve Insufficiency
Aortic Valve Insufficiency
disease Cardiovascular Diseases Disease or Syndrome 377 8 0.100 None 0
CUI: C0013261
Disease: Duane Retraction Syndrome
Duane Retraction Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases Disease or Syndrome 32 2 0.100 None 0
CUI: C0013336
Disease: Dwarfism
Dwarfism
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Congenital Abnormality 1261 77 0.100 None 0
CUI: C0027092
Disease: Myopia
Myopia
disease Eye Diseases Disease or Syndrome 490 167 0.100 None 0
CUI: C0034895
Disease: Rectovaginal Fistula
Rectovaginal Fistula
disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Female Urogenital Diseases and Pregnancy Complications Anatomical Abnormality 17 0.100 None 0
CUI: C0039144
Disease: Syringomyelia
Syringomyelia
disease Nervous System Diseases Disease or Syndrome 35 4 0.100 None 0
CUI: C0042580
Disease: Vesico-Ureteral Reflux
Vesico-Ureteral Reflux
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 187 23 0.100 None 0
CUI: C0080174
Disease: Spina Bifida Occulta
Spina Bifida Occulta
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 76 6 0.100 None 0
CUI: C0149630
Disease: Bicuspid aortic valve
Bicuspid aortic valve
disease Cardiovascular Diseases Congenital Abnormality 154 23 0.100 None 0
CUI: C0156394
Disease: Hypertrophy of clitoris
Hypertrophy of clitoris
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome 63 2 0.100 None 0
CUI: C0221209
Disease: Pelvic kidney
Pelvic kidney
disease Congenital Abnormality 15 1 0.100 None 0
CUI: C0221353
Disease: Horseshoe Kidney
Horseshoe Kidney
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Congenital Abnormality 51 3 0.100 None 0
CUI: C0238207
Disease: Ectopic kidney
Ectopic kidney
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 41 3 0.100 None 0
CUI: C0238397
Disease: Pulmonary artery stenosis
Pulmonary artery stenosis
disease Cardiovascular Diseases Anatomical Abnormality 36 2 0.100 None 0
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
disease Eye Diseases Disease or Syndrome 685 663 0.100 None 0
CUI: C0266387
Disease: Bicornuate uterus
Bicornuate uterus
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Congenital Abnormality 44 0.100 None 0
CUI: C0266614
Disease: Bat ear
Bat ear
disease Congenital Abnormality 5 0.100 None 0
CUI: C0344760
Disease: Congenital atresia of mitral valve
Congenital atresia of mitral valve
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 8 2 0.100 None 0
Peripheral pulmonary artery stenosis
disease Cardiovascular Diseases Disease or Syndrome 23 3 0.100 None 0