Alstrom Syndrome Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description An autosomal recessive disease that is characterized by multiorgan dysfunction. The key features are childhood obesity, blindness due to congenital retinal dystrophy, and sensorineural hearing loss with autosomal recessive inheritance and has_material_basis_in mutations in the ALMS1 gene. (Human Disease Ontology, DOID_0050473)
External Link https://www.disgenet.org/browser/0/1/0/C0268425
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Genes

12 genes associated with the disease Alstrom Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
ALMS1 Alstrom syndrome protein 1
CDH23 cadherin-related 23
CEP290 centrosomal protein 290kDa
DCTN1 dynactin 1
DYSF dysferlin
GH1 growth hormone 1
GHRH growth hormone releasing hormone
LBX2 ladybird homeobox 2
MKKS McKusick-Kaufman syndrome
PLXNA2 plexin A2
RHO rhodopsin
SLC4A5 solute carrier family 4 (sodium bicarbonate cotransporter), member 5