TSPAN12, tetraspanin 12, 23554

N. diseases: 44; N. variants: 15
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2750079
Disease: Exudative Vitreoretinopathy 5
Exudative Vitreoretinopathy 5 		0.700 GeneticVariation disease UNIPROT Recessive mutations in TSPAN12 cause retinal dysplasia and severe familial exudative vitreoretinopathy (FEVR). 22427576 2012
CUI: C2750079
Disease: Exudative Vitreoretinopathy 5
Exudative Vitreoretinopathy 5 		0.700 GeneticVariation disease UNIPROT Next-generation sequencing of a 40 Mb linkage interval reveals TSPAN12 mutations in patients with familial exudative vitreoretinopathy. 20159111 2010
CUI: C2750079
Disease: Exudative Vitreoretinopathy 5
Exudative Vitreoretinopathy 5 		0.700 GeneticVariation disease UNIPROT Mutations in TSPAN12 cause autosomal-dominant familial exudative vitreoretinopathy. 20159112 2010
CUI: C2750079
Disease: Exudative Vitreoretinopathy 5
Exudative Vitreoretinopathy 5 		0.700 Biomarker disease CTD_human
CUI: C2750079
Disease: Exudative Vitreoretinopathy 5
Exudative Vitreoretinopathy 5 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C2750079
Disease: Exudative Vitreoretinopathy 5
Exudative Vitreoretinopathy 5 		0.700 CausalMutation disease CLINVAR
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		0.300 Biomarker group GENOMICS_ENGLAND
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		0.300 Biomarker group GENOMICS_ENGLAND
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		0.300 Biomarker group GENOMICS_ENGLAND
CUI: C0339539
Disease: Familial Exudative Vitreoretinopathy
Familial Exudative Vitreoretinopathy 		0.200 GeneticVariation disease BEFREE Inclusion criteria included clinical diagnosis of FEVR with only-unilateral features on widefield angiography and confirmed mutations in 5 FEVR targeted genes (LRP5, FZD4, ZNF408, NDP, and TSPAN12). 31169861 2019
CUI: C0339539
Disease: Familial Exudative Vitreoretinopathy
Familial Exudative Vitreoretinopathy 		0.200 Biomarker disease BEFREE Our results expand the mutation spectrums of TSPAN12, and will be valuable for disease diagnosis, prognosis, genetic counseling, and enriching our understanding of the role of the tetraspanin-12 protein in the pathogenesis of FEVR. 31452356 2019
CUI: C0339539
Disease: Familial Exudative Vitreoretinopathy
Familial Exudative Vitreoretinopathy 		0.200 GeneticVariation disease BEFREE Tetraspanin 12 (TSPAN12), a member of the phylogenetically ancient tetraspanin family, is linked to impaired vascularization of the eye called familial exudative vitreoretinopathy, while the functional role of TSPAN12 in lung cancer has not been well characterized. 29535534 2018
CUI: C0339539
Disease: Familial Exudative Vitreoretinopathy
Familial Exudative Vitreoretinopathy 		0.200 Biomarker disease BEFREE Mutation Spectrum of the LRP5, NDP, and TSPAN12 Genes in Chinese Patients With Familial Exudative Vitreoretinopathy. 29181528 2017
CUI: C0339539
Disease: Familial Exudative Vitreoretinopathy
Familial Exudative Vitreoretinopathy 		0.200 GeneticVariation disease BEFREE The majority of mutations identified in FEVR are found within four genes that encode the receptor complex (FZD4, LRP5, and TSPAN12) and ligand (NDP) of a molecular pathway that controls angiogenesis, the Norrin-β-catenin signaling pathway. 28575650 2017
CUI: C0339539
Disease: Familial Exudative Vitreoretinopathy
Familial Exudative Vitreoretinopathy 		0.200 Biomarker disease BEFREE In the retina, the tetraspanin TSPAN12 and the ligand norrin (NDP) mediate angiogenesis, and both genes are linked to familial exudative vitreoretinopathy (FEVR), yet the molecular function of TSPAN12 remains poorly understood. 28658627 2017
CUI: C0339539
Disease: Familial Exudative Vitreoretinopathy
Familial Exudative Vitreoretinopathy 		0.200 GeneticVariation disease BEFREE Variable Familial Exudative Vitreoretinopathy in a family harbouring variants in both FZD4 and TSPAN12. 28211206 2017
CUI: C0339539
Disease: Familial Exudative Vitreoretinopathy
Familial Exudative Vitreoretinopathy 		0.200 GeneticVariation disease BEFREE Thirty-three Korean FEVR patients, who previously screened negative for TSPAN12 mutations, mutations in other FEVR-associated genes such as NDP, FZD4, LRP5, and large deletions and duplications of NDP, FZD4, and LRP5, were selected for TSPAN12 large deletion and duplication analyses. 28002565 2016
CUI: C0339539
Disease: Familial Exudative Vitreoretinopathy
Familial Exudative Vitreoretinopathy 		0.200 GeneticVariation disease BEFREE The authors report a case of familial exudative vitreoretinopathy in the spectrum of osteoporosis pseudoglioma syndrome associated with novel mutations of the LRP5 and TSPAN12 genes that resulted in a phenotype similar to bilateral persistent fetal vasculature. 27007396 2016
CUI: C0339539
Disease: Familial Exudative Vitreoretinopathy
Familial Exudative Vitreoretinopathy 		0.200 Biomarker disease BEFREE Mutations in candidate genes that encode for a ligand (NDP) and receptor complex (FZD4, LRP5 and TSPAN12) in the Norrin β-catenin signaling pathway are involved in the pathogenesis of familial exudative vitreoretinopathy (FEVR, MIM # 133780). 27316669 2016
CUI: C0339539
Disease: Familial Exudative Vitreoretinopathy
Familial Exudative Vitreoretinopathy 		0.200 GeneticVariation disease BEFREE Five genes have been identified that when mutated, cause FEVR; NDP (X-linked), FZD4 (autosomal dominant and recessive), LRP5 (autosomal dominant and recessive), TSPAN12 (autosomal dominant and recessive), and ZNF408 (autosomal dominant). 25323851 2015
CUI: C0339539
Disease: Familial Exudative Vitreoretinopathy
Familial Exudative Vitreoretinopathy 		0.200 Biomarker disease BEFREE In this study, we performed mutation screening for FZD4, LRP5, and TSPAN12 in patients with clinical diagnosis of FEVR. 26244290 2015
CUI: C0339539
Disease: Familial Exudative Vitreoretinopathy
Familial Exudative Vitreoretinopathy 		0.200 GeneticVariation disease BEFREE The TSPAN12 gene was previously reported to cause dominant and recessive FEVR, but has not yet been associated with other vitreoretinal manifestations. 25250762 2014
CUI: C0339539
Disease: Familial Exudative Vitreoretinopathy
Familial Exudative Vitreoretinopathy 		0.200 GeneticVariation disease BEFREE Mutation screening was performed by directly sequencing PCR products of genomic DNA with primers designed to amplify the seven coding exons and adjacent intronic regions of the FEVR-causing gene TSPAN12. 25352738 2014
CUI: C0339539
Disease: Familial Exudative Vitreoretinopathy
Familial Exudative Vitreoretinopathy 		0.200 GeneticVariation disease BEFREE Interestingly, mutations in TSPAN12 have been considered causative of both a dominant and recessive inheritance and a FEVR phenotype sensitive to the number of TSPAN12 mutations has been supposed. 23834558 2014
CUI: C0339539
Disease: Familial Exudative Vitreoretinopathy
Familial Exudative Vitreoretinopathy 		0.200 GeneticVariation disease BEFREE TSPAN12 screening in a large dominant FEVR family unexpectedly led to the identification of homozygous mutations in severely affected family members, whereas mildly affected family members were heterozygous. 22427576 2012