VWA1

Chr 1p36.33

von Willebrand factor A domain containing 1

Aliases:: FLJ22215, VWA-1, WARP
MANE:: ENST00000476993.2

OMIM: 611901 ↗NCBI: 64856 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Hereditary neuropathy
BIALLELIC, autosomal or pseudoautosomal
Hereditary neuropathy or pain disorder
BIALLELIC, autosomal or pseudoautosomal
Congenital myopathy
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

neuronopathy, distal hereditary motor, autosomal recessive 7
0.75
neuromuscular disease
0.39
neuronopathy, distal hereditary motor, autosomal recessive 5
0.37
inflammatory bowel disease
0.07
myocardial infarction
0.06
periodontitis
0.04
craniofacial microsomia
0.04
glioblastoma
0.04
sinusitis
0.03
mandibulofacial dysostosis
0.02

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

Protein function (UniProt)

von Willebrand factor A domain-containing protein 1

Promotes matrix assembly (By similarity). Involved in the organization of skeletal muscles and in the formation of neuromuscular junctions (Probable)