GPATCH11

Chr 2p22.2

G-patch domain containing 11

Aliases:: FLJ38348, CENPY, CENP-Y
MANE:: ENST00000674370.2

OMIM: 621183 ↗NCBI: 253635 ↗Ensembl ↗

Annotations refreshed 10 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Intellectual disability
BIALLELIC, autosomal or pseudoautosomal
Retinal disorders
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

neurodevelopmental disorder
0.42
Intellectual disability
0.37
head and neck cancer
0.28
systemic lupus erythematosus
0.28
retinal disorder
0.18
gout
0.09
multiple sclerosis
0.03
heart failure
0.03
type 2 diabetes mellitus
0.03
atrial fibrillation
0.03

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.