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
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: 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: 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: 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: C0741916
Disease: Cardiac defects
Cardiac defects
group Disease or Syndrome 62 2 0.010 None 1.000 1 2018 2018
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: 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: C1848673
Disease: Hypoplastic feet
Hypoplastic feet
phenotype Finding 129 21 0.100 None 1.000 1 1 2017 2017
Absent proximal finger flexion creases
phenotype Finding 2 1 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: 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: C1854114
Disease: Short nose
Short nose
phenotype Finding 265 23 0.100 None 1.000 1 1 2017 2017
Birth length less than 3rd percentile
phenotype Finding 21 13 0.100 None 1.000 1 1 2017 2017