TMEM276-ZFTRAF1 (TMEM276-ZFTRAF1 readthrough)

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Gene Gene information from NCBI Gene database.
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Entrez ID 157542
Gene name TMEM276-ZFTRAF1 readthrough
Gene symbol TMEM276-ZFTRAF1
Synonyms (NCBI Gene)
LOC84773-CYHR1
Chromosome 8
Chromosome location 8q24.3
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
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MIM HGNC e!Ensembl
HGNC N/A HGNC
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
5
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Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Reference Evidence Score
ALZHEIMER DISEASE — GWAS catalog 34743297
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTOSOMAL RECESSIVE NON-SYNDROMIC INTELLECTUAL DISABILITY — Disgenet —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND GROSS MOTOR AND SPEECH DELAY — Disgenet —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA — GWAS catalog 31374203
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
SKIN DISEASE — GWAS catalog 40465716
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
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OTOGL 2 shared diseasesNonsyndromic intellectual disability, Skin disease 2 shared evidence sourcesDisgenet (Nonsyndromic intellectual disability), GWAS catalog (Skin disease) Related via 2 shared diseases including Nonsyndromic intellectual disability, Skin disease — evidence mostly Disgenet. CUX1 2 shared diseasesNonsyndromic intellectual disability, Skin disease 2 shared evidence sourcesDisgenet (Nonsyndromic intellectual disability), GWAS catalog (Skin disease) Related via 2 shared diseases including Nonsyndromic intellectual disability, Skin disease — evidence mostly Disgenet. TNIK 2 shared diseasesNonsyndromic intellectual disability, Skin disease 1 shared evidence sourceDisgenet (Nonsyndromic intellectual disability) Related via 2 shared diseases including Nonsyndromic intellectual disability, Skin disease — evidence mostly Disgenet.
Intellectual developmental disorder Linked via 2 of 3 related genesCUX1, TNIK Metabolic syndrome Linked via 2 of 3 related genesCUX1, TNIK Isolated sensorineural deafness Linked via 1 of 3 related genesOTOGL Central vertigo Linked via 1 of 3 related genesOTOGL Kidney disease Linked via 1 of 3 related genesOTOGL