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: 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: 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: C1856644
Disease: Absent/hypoplastic coccyx
Absent/hypoplastic coccyx 		phenotype Finding 2 1 0.100 None 1.000 1 1 2017 2017
CUI: C2751480
Disease: Hypoplastic coccygeal vertebrae
Hypoplastic coccygeal vertebrae 		phenotype Finding 2 1 0.100 None 1.000 1 1 2017 2017
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: C0578531
Disease: Skin dimple
Skin dimple 		phenotype Finding 5 1 0.100 None 1.000 1 1 2017 2017
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: C0544008
Disease: Chandler syndrome
Chandler syndrome 		disease Eye Diseases Disease or Syndrome 6 10 0.010 None 1.000 1 2007 2007
CUI: C2826330
Disease: Refractory anemia with ring sideroblasts associated with marked thrombocytosis
Refractory anemia with ring sideroblasts associated with marked thrombocytosis 		disease Hemic and Lymphatic Diseases Neoplastic Process 6 1 0.010 None 1.000 1 2009 2009
CUI: C4022490
Disease: Prominent coccyx
Prominent coccyx 		phenotype Finding 6 1 0.100 None 1.000 1 1 2017 2017
CUI: C0476217
Disease: Head movements abnormal
Head movements abnormal 		phenotype Nervous System Diseases Finding 8 2 0.100 None 0 1
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: C1865304
Disease: Overfolding of the superior helices
Overfolding of the superior helices 		phenotype Finding 10 7 0.100 None 1.000 1 1 2017 2017
CUI: C0234853
Disease: Facial grimacing
Facial grimacing 		phenotype Finding 10 2 0.100 None 0 1
CUI: C0423808
Disease: Brachyonychia
Brachyonychia 		phenotype Finding 11 2 0.100 None 1.000 1 1 2017 2017
CUI: C4072903
Disease: Primary Caesarian section
Primary Caesarian section 		phenotype Finding 11 15 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: C3808403
Disease: Large fleshy ears
Large fleshy ears 		phenotype Finding 13 3 0.100 None 1.000 1 1 2017 2017
CUI: C0231471
Disease: Abnormal posture
Abnormal posture 		phenotype Nervous System Diseases Finding 13 7 0.100 None 0 1
CUI: C1860247
Disease: Prominent glabella
Prominent glabella 		phenotype Finding 14 3 0.100 None 1.000 1 1 2017 2017
CUI: C4024946
Disease: Focal white matter lesions
Focal white matter lesions 		phenotype Pathological Conditions, Signs and Symptoms Finding 14 2 0.100 None 1.000 1 1 2017 2017
CUI: C0272386
Disease: Hypertrophy of tonsils
Hypertrophy of tonsils 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 15 5 0.100 None 0 1
CUI: C0740852
Disease: Upper airway obstruction
Upper airway obstruction 		disease Finding 16 3 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: C3809827
Disease: Staring gaze
Staring gaze 		phenotype Finding 16 1 0.100 None 0 1