CDKL5, cyclin dependent kinase like 5, 6792

N. diseases: 224; N. variants: 221
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: C1839739
Disease: Thick lower lip vermilion
Thick lower lip vermilion
phenotype Finding 145 10 0.100 None 0
CUI: C1839767
Disease: Tented upper lip vermilion
Tented upper lip vermilion
phenotype Finding 79 8 0.100 None 0 1
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril
phenotype Finding 407 35 0.100 None 0
CUI: C1842364
Disease: Central hypotonia
Central hypotonia
phenotype Finding 50 25 0.100 None 0 1
CUI: C1843108
Disease: Short palm
Short palm
phenotype Finding 110 13 0.100 None 0
CUI: C1844548
Disease: Hypoplastic finger
Hypoplastic finger
phenotype Finding 39 3 0.100 None 0
CUI: C1844906
Disease: Broad finger
Broad finger
phenotype Finding 17 0.100 None 0
CUI: C1847879
Disease: X-linked dominant inheritance
X-linked dominant inheritance
phenotype Finding 65 0.100 None 0
CUI: C1848673
Disease: Hypoplastic feet
Hypoplastic feet
phenotype Finding 129 21 0.100 None 0
CUI: C1849089
Disease: Broad forehead
Broad forehead
phenotype Finding 133 13 0.100 None 0
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger
disease Congenital Abnormality 284 39 0.100 None 0
CUI: C1850456
Disease: Progressive microcephaly
Progressive microcephaly
phenotype Finding 67 4 0.100 None 0
CUI: C1857679
Disease: Sloping forehead
Sloping forehead
phenotype Finding 149 5 0.100 None 0
CUI: C1861324
Disease: Short philtrum
Short philtrum
phenotype Finding 182 25 0.100 None 0 1
CUI: C1865014
Disease: Long philtrum
Long philtrum
phenotype Finding 282 16 0.100 None 0
CUI: C1969156
Disease: EEG with burst suppression
EEG with burst suppression
phenotype Finding 19 0.100 None 0
CUI: C3278923
Disease: Dilated ventricles (finding)
Dilated ventricles (finding)
phenotype Finding 427 32 0.100 None 0
Aplasia/Hypoplasia of the cerebellum
phenotype Finding 116 5 0.100 None 0
CUI: C4021217
Disease: EEG with generalized slow activity
EEG with generalized slow activity
phenotype Finding 8 6 0.100 None 0
CUI: C4022849
Disease: Absent thumbnail
Absent thumbnail
phenotype Finding 15 0.100 None 0
Uni- and bilateral multifocal epileptiform discharges
phenotype Finding 14 0.100 None 0
CUI: C4023683
Disease: EEG with spike-wave complexes
EEG with spike-wave complexes
phenotype Finding 23 1 0.100 None 0
CUI: C4023986
Disease: Broad phalanx of the toes
Broad phalanx of the toes
phenotype Anatomical Abnormality 17 0.100 None 0
CUI: C4024167
Disease: Abnormality of the antitragus
Abnormality of the antitragus
disease Anatomical Abnormality 7 0.100 None 0
CUI: C4551570
Disease: 2-3 toe syndactyly
2-3 toe syndactyly
disease Congenital Abnormality 85 16 0.100 None 0 1