Tbio | Protein C8orf37 |
This gene encodes a ubiquitously expressed protein of unknown function. It has high levels of mRNA expression in the brain, heart, and retina and the protein co-localizes with polyglutamylated tubulin at the base of the primary cilium in human retinal pigment epithelial cells. Mutations in this gene have been associated with autosomal recessive cone-rod dystrophy (arCRD) and retinitis pigmentosa (arRP). [provided by RefSeq, Mar 2012]
Comments
Disease | Target Count | P-value |
---|---|---|
posterior fossa group B ependymoma | 1530 | 9.78648985662129E-12 |
lung carcinoma | 2844 | 9.56512972638584E-11 |
Disease | Target Count | Z-score | Confidence |
---|---|---|---|
Hematocele of tunica vaginalis testis | 3 | 4.962 | 2.5 |
Polydactyly | 93 | 4.182 | 2.1 |
Fundus dystrophy | 77 | 4.093 | 2.0 |
Bardet-Biedl Syndrome | 40 | 3.532 | 1.8 |
Disease | Target Count |
---|---|
cone-rod dystrophy | 60 |
Retinitis pigmentosa | 156 |
Cone-rod dystrophy 16 | 1 |
Disease | Target Count |
---|---|
Retinitis pigmentosa 64 | 1 |
Disease | log2 FC | p |
---|---|---|
posterior fossa group B ependymoma | 2.300 | 0.000 |
lung carcinoma | 1.300 | 0.000 |
Species | Source |
---|---|
Chimp | OMA EggNOG |
Macaque | OMA EggNOG Inparanoid |
Mouse | OMA EggNOG Inparanoid |
Rat | EggNOG Inparanoid |
Dog | OMA EggNOG |
Cow | OMA EggNOG Inparanoid |
PMID | Text |
---|---|
25802487 | Novel C8orf37 mutations cause retinitis pigmentosa in two consanguineous families of Pakistani origin. |
25113443 | Our study identified two novel truncating mutations of the C8orf37 gene in siblings with early-onset retinal dystrophy, macular atrophy, cataracts, and high myopia. |
23788369 | Mutations in C8orf37 give rise to an early or adolescent-onset autosomal recessive cone rod dystrophy or retinitis pigmentosa phenotype with early macular atrophy. |
22177090 | In a ciliary-expressed gene (C8orf37), mutations were identified that are associated with autosomal recessive cone-rod dystrophy and retinitis pigmentosa with early macular involvement. |
20379614 | Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator) |
PMID | Year | Title |
---|---|---|
27173435 | 2016 | An organelle-specific protein landscape identifies novel diseases and molecular mechanisms. |
27008867 | 2016 | Mutations in C8ORF37 cause Bardet Biedl syndrome (BBS21). |
26865426 | 2016 | A novel C8orf37 splice mutation and genotype-phenotype correlation for cone-rod dystrophy. |
26854863 | 2016 | C8orf37 is mutated in Bardet-Biedl syndrome and constitutes a locus allelic to non-syndromic retinal dystrophies. |
25802487 | 2015 | Novel C8orf37 mutations cause retinitis pigmentosa in consanguineous families of Pakistani origin. |
25113443 | 2016 | Novel C8orf37 Mutations in Patients with Early-onset Retinal Dystrophy, Macular Atrophy, Cataracts, and High Myopia. |
23788369 | 2013 | Clinical characteristics of rod and cone photoreceptor dystrophies in patients with mutations in the C8orf37 gene. |
23251661 | 2012 | Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. |
22177090 | 2012 | Mutations in C8orf37, encoding a ciliary protein, are associated with autosomal-recessive retinal dystrophies with early macular involvement. |
20379614 | Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. | |
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