HAL - Gene browser

HAL

histidine ammonia-lyase

HCNC Approved Symbol: HAL (HGNC:4806)
Genomic Coordinates: 12:95,972,662 - 95,996,344 (12q23.1)
Synonyms: HIS
Disease Associations: This gene is associated with the following 1 diseases in OMIM.

4Patients

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

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

04
Patient count

Histidinemia: 3 (75.0%)
Patient Count: 3 (75.0%)
% of total patients presenting each phenotype is shown in parentheses.
3 (75.0%)
Hyperhistidinemia: 1 (25.0%)
Patient Count: 1 (25.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (25.0%)
Language impairment: 1 (25.0%)
Patient Count: 1 (25.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (25.0%)
Nephrocalcinosis: 1 (25.0%)
Patient Count: 1 (25.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (25.0%)
Sacral dimple: 1 (25.0%)
Patient Count: 1 (25.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (25.0%)