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KDM5B

lysine demethylase 5B

HCNC Approved Symbol
KDM5B (HGNC:18039)
Genomic Coordinates
1:202,724,495 - 202,808,421 (1q32.1)
Synonyms
RBBP2H1A, PLU-1, CT31, PPP1R98, JARID1B
Disease Associations
This gene is associated with the following 1 diseases in OMIM.

Diagnosed Cases

4Patients

In total, 4 patients were diagnosed with a variant in the KDM5B gene.

Frequently observed phenotypes

(Top 5 only, Patient count*)
*% of total patients presenting each phenotype is shown in parentheses.

Hypertelorism
 3 (75.0%)
Abnormality of the thoracic spine
 2 (50.0%)
Autism
 2 (50.0%)
Epilepsy
 2 (50.0%)
Gliosis
 2 (50.0%)
KDM5B - Gene browser | 3billion