CDK13, cyclin dependent kinase 13, 8621

N. diseases: 141; N. variants: 8
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: C0432072
Disease: Dysmorphic features
Dysmorphic features 		disease Congenital Abnormality 439 617 0.100 None 1.000 9 1 2009 2018
CUI: C4479246
Disease: CONGENITAL HEART DEFECTS, DYSMORPHIC FACIAL FEATURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER
CONGENITAL HEART DEFECTS, DYSMORPHIC FACIAL FEATURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER 		disease Disease or Syndrome 1 8 0.710 strong 1.000 4 8 2015 2019
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 5725 942 0.030 None 1.000 3 2012 2019
CUI: C0004045
Disease: Asphyxia Neonatorum
Asphyxia Neonatorum 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 45 5 0.100 None 1.000 1 1 2017 2017
CUI: C0009081
Disease: Congenital clubfoot
Congenital clubfoot 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 285 44 0.100 None 1.000 1 1 2017 2017
CUI: C0025202
Disease: melanoma
melanoma 		disease Neoplasms Neoplastic Process 3087 515 0.010 None 1.000 1 1999 1999
CUI: C0025990
Disease: Micrognathism
Micrognathism 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Congenital Abnormality 586 53 0.100 None 1.000 1 1 2017 2017
CUI: C0026034
Disease: Microstomia
Microstomia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Congenital Abnormality 172 9 0.100 None 1.000 1 1 2017 2017
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 1.000 1 1 2017 2017
CUI: C0221358
Disease: Long narrow head
Long narrow head 		disease Congenital Abnormality 154 26 0.100 None 1.000 1 1 2017 2017
CUI: C0239234
Disease: Low set ears
Low set ears 		disease Congenital Abnormality 489 64 0.100 None 1.000 1 1 2017 2017
CUI: C0338502
Disease: Hypoplasia of the optic nerve
Hypoplasia of the optic nerve 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases Disease or Syndrome 59 14 0.100 None 1.000 1 1 2017 2017
CUI: C0410264
Disease: Contracture of tendo achilles
Contracture of tendo achilles 		disease Anatomical Abnormality 32 6 0.100 None 1.000 1 1 2017 2017
CUI: C0544008
Disease: Chandler syndrome
Chandler syndrome 		disease Eye Diseases Disease or Syndrome 6 10 0.010 None 1.000 1 2007 2007
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease Mental or Behavioral Dysfunction 1825 553 0.100 None 1.000 1 2 2017 2017
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		disease Congenital Abnormality 417 30 0.100 None 1.000 1 1 2017 2017
CUI: C0740852
Disease: Upper airway obstruction
Upper airway obstruction 		disease Finding 16 3 0.100 None 1.000 1 1 2017 2017
CUI: C1264195
Disease: Refractory anemia with ringed sideroblasts
Refractory anemia with ringed sideroblasts 		disease Hemic and Lymphatic Diseases Neoplastic Process 36 3 0.010 None 1.000 1 2009 2009
CUI: C1562689
Disease: Congenital hereditary endothelial dystrophy
Congenital hereditary endothelial dystrophy 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 5 0.010 None 1.000 1 2007 2007
CUI: C1849075
Disease: Relative macrocephaly
Relative macrocephaly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 49 19 0.100 None 1.000 1 1 2017 2017
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger 		disease Congenital Abnormality 284 39 0.100 None 1.000 1 1 2017 2017
CUI: C1857569
Disease: CORNEAL ENDOTHELIAL DYSTROPHY 2
CORNEAL ENDOTHELIAL DYSTROPHY 2 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 9 24 0.010 None 1.000 1 2007 2007
CUI: C1857572
Disease: CORNEAL DYSTROPHY AND PERCEPTIVE DEAFNESS
CORNEAL DYSTROPHY AND PERCEPTIVE DEAFNESS 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 3 7 0.010 None < 0.001 1 2007 2007
CUI: C1858565
Disease: Duplicated collecting system
Duplicated collecting system 		disease Anatomical Abnormality 19 1 0.100 None 1.000 1 1 2017 2017
CUI: C1956257
Disease: Pulmonary Stenosis
Pulmonary Stenosis 		disease Cardiovascular Diseases Disease or Syndrome 106 40 0.100 None 1.000 1 1 2017 2017