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.
CUI: C1847879
Disease: X-linked dominant inheritance
X-linked dominant inheritance 		phenotype Finding 65 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: C0178874
Disease: Tumor Progression
Tumor Progression 		phenotype Pathological Conditions, Signs and Symptoms Neoplastic Process 3865 72 0.010 None 1.000 1 2017 2017
CUI: C0231791
Disease: Toeing-in
Toeing-in 		phenotype Sign or Symptom 6 0.010 None 1.000 1 2016 2016
CUI: C2678045
Disease: TOE SYNDACTYLY, TELECANTHUS, AND ANOGENITAL AND RENAL MALFORMATIONS
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
CUI: C1865017
Disease: Thin upper lip vermilion
Thin upper lip vermilion 		phenotype Finding 211 25 0.100 None 0
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: C0423113
Disease: Telecanthus
Telecanthus 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Finding 134 14 0.100 None 0
CUI: C0039144
Disease: Syringomyelia
Syringomyelia 		disease Nervous System Diseases Disease or Syndrome 35 4 0.100 None 0
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: C0262374
Disease: Stricture of anus
Stricture of anus 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Finding 28 1 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: C0302511
Disease: Small for gestational age fetus
Small for gestational age fetus 		phenotype Pathological Conditions, Signs and Symptoms Finding 156 0.100 None 0
CUI: C0235991
Disease: Small for gestational age (disorder)
Small for gestational age (disorder) 		phenotype Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications Finding 181 34 0.100 None 0
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		phenotype Finding 1010 0.100 None 0
CUI: C0349588
Disease: Short stature
Short stature 		phenotype Finding 1127 292 0.100 None 0
CUI: C0036572
Disease: Seizures
Seizures 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 2152 553 0.100 None 0
CUI: C1565489
Disease: Renal Insufficiency
Renal Insufficiency 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 615 42 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: C0238397
Disease: Pulmonary artery stenosis
Pulmonary artery stenosis 		disease Cardiovascular Diseases Anatomical Abnormality 36 2 0.100 None 0
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		group Neoplasms Neoplastic Process 8221 1374 0.020 None 1.000 2 2017 2019
CUI: C0345030
Disease: Peripheral pulmonary artery stenosis
Peripheral pulmonary artery stenosis 		disease Cardiovascular Diseases Disease or Syndrome 23 3 0.100 None 0
CUI: C0221209
Disease: Pelvic kidney
Pelvic kidney 		disease Congenital Abnormality 15 1 0.100 None 0
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 6385 327 0.010 None 1.000 1 2017 2017
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide 		phenotype Finding 429 29 0.100 None 0