GBF1 - Gene browser

GBF1

golgi brefeldin A resistant guanine nucleotide exchange factor 1

HCNC Approved Symbol: GBF1 (HGNC:4181)
Genomic Coordinates: 10:102,230,643 - 102,382,896 (10q24.32)
Synonyms: KIAA0248, ARF1GEF
Disease Associations: This gene is associated with the following 1 diseases in OMIM.

1Patient

In total, 1 patient was diagnosed with a variant in the GBF1 gene.

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

01
Patient count

Myopia: 1 (100.0%)
Patient Count: 1 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (100.0%)
Neuropathy: 1 (100.0%)
Patient Count: 1 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (100.0%)
Peroneal atrophy: 1 (100.0%)
Patient Count: 1 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (100.0%)
Peroneal muscle atrophy: 1 (100.0%)
Patient Count: 1 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (100.0%)
Pes cavus: 1 (100.0%)
Patient Count: 1 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (100.0%)