Disease: Vitreoretinal Degeneration, Snowflake Type

Name Vitreoretinal Degeneration, Snowflake Type

Synonyms SNOWFLAKE VITREORETINAL DEGENERATION

Classification eye, genetic

Phenotypes Autosomal dominant inheritance; Cataract; Optically empty vitreous; Retinal dots; Vitreoretinopathy

Associated Genes KCNJ13 (Withdrawn symbols: Kir1.4, Kir7.1, LCA16 )

Mouse Orthologs Kcnj13 (Withdrawn symbols: 100040591 )

Source OMIM:193230 (names, synonyms, disease associated genes),
Orphanet (disease classes),
HGNC, Ensembl, MGI (gene symbols, gene orthology)
HPO (phenotypes)

Mouse Model: phenotype-based associations

Disease phenotypes are compared with mouse phenotypes, with each mouse model contributing one point to the diagram. Scores are computed according to phenotype specificity and cross-species similarity. X-axis shows the score of the single phenotype that contributes most. Y-axis shows an average among all phenotype matches. The curved line designates a visualization threshold; models below threshold are omitted, except when their genotype matches a disease-associated gene.

Mouse Models

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