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: C1827524
Disease: Wide spaced nipples
Wide spaced nipples 		phenotype Finding 96 19 0.100 None 1.000 1 1 2017 2017
CUI: C1835807
Disease: Prominent fingertip pads
Prominent fingertip pads 		phenotype Finding 16 8 0.100 None 1.000 1 1 2017 2017
CUI: C1836038
Disease: Poor head control
Poor head control 		phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Finding 162 13 0.100 None 1.000 1 1 2017 2017
CUI: C1837404
Disease: High, narrow palate
High, narrow palate 		phenotype Finding 129 21 0.100 None 1.000 1 1 2017 2017
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		phenotype Finding 407 35 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: 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: C1850048
Disease: Absent proximal finger flexion creases
Absent proximal finger flexion creases 		phenotype Finding 2 1 0.100 None 1.000 1 1 2017 2017
CUI: C1848673
Disease: Hypoplastic feet
Hypoplastic feet 		phenotype Finding 129 21 0.100 None 1.000 1 1 2017 2017
CUI: C0423808
Disease: Brachyonychia
Brachyonychia 		phenotype Finding 11 2 0.100 None 1.000 1 1 2017 2017
CUI: C0426886
Disease: Tapering fingers (finding)
Tapering fingers (finding) 		phenotype Finding 91 19 0.100 None 1.000 1 1 2017 2017
CUI: C0549629
Disease: Abnormal delivery
Abnormal delivery 		phenotype Pathologic Function 32 37 0.100 None 1.000 1 1 2017 2017
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: C0575802
Disease: Small hand
Small hand 		phenotype Finding 108 31 0.100 None 1.000 1 1 2017 2017
CUI: C0578531
Disease: Skin dimple
Skin dimple 		phenotype Finding 5 1 0.100 None 1.000 1 1 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: 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: C1853241
Disease: Flat face
Flat face 		phenotype Finding 83 7 0.100 None 1.000 1 1 2017 2017
CUI: C1854113
Disease: Prominent nasal bridge
Prominent nasal bridge 		phenotype Finding 180 8 0.100 None 1.000 1 1 2017 2017
CUI: C3278923
Disease: Dilated ventricles (finding)
Dilated ventricles (finding) 		phenotype Finding 427 32 0.100 None 1.000 1 1 2017 2017
CUI: C3806467
Disease: Respiratory insufficiency due to muscle weakness
Respiratory insufficiency due to muscle weakness 		phenotype Respiratory Tract Diseases Finding 85 3 0.100 None 1.000 1 1 2017 2017
CUI: C3808403
Disease: Large fleshy ears
Large fleshy ears 		phenotype Finding 13 3 0.100 None 1.000 1 1 2017 2017
CUI: C4021161
Disease: Multiple suture craniosynostosis
Multiple suture craniosynostosis 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Finding 12 1 0.100 None 1.000 1 1 2017 2017
CUI: C4022490
Disease: Prominent coccyx
Prominent coccyx 		phenotype Finding 6 1 0.100 None 1.000 1 1 2017 2017