ASH1L - Gene browser

ASH1L

ASH1 like histone lysine methyltransferase

HCNC Approved Symbol: ASH1L (HGNC:19088)
Genomic Coordinates: 1:155,335,268 - 155,563,202 (1q22)
Synonyms: huASH1, ASH1, ASH1L1, KMT2H
Disease Associations: This gene is associated with the following 1 diseases in OMIM.

12Patients

In total, 12 patients were diagnosed with a variant in the ASH1L gene.

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

012
Patient count

Developmental delay: 2 (16.7%)
Patient Count: 2 (16.7%)
% of total patients presenting each phenotype is shown in parentheses.
2 (16.7%)
Global developmental delay: 2 (16.7%)
Patient Count: 2 (16.7%)
% of total patients presenting each phenotype is shown in parentheses.
2 (16.7%)
Autistic spectrum disorder: 1 (8.3%)
Patient Count: 1 (8.3%)
% of total patients presenting each phenotype is shown in parentheses.
1 (8.3%)
Dysmorphic features: 1 (8.3%)
Patient Count: 1 (8.3%)
% of total patients presenting each phenotype is shown in parentheses.
1 (8.3%)
Abdominal obesity: 1 (8.3%)
Patient Count: 1 (8.3%)
% of total patients presenting each phenotype is shown in parentheses.
1 (8.3%)