ZNF408, zinc finger protein 408, 79797

N. diseases: 42; N. variants: 5
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4225315
Disease: RETINITIS PIGMENTOSA 72
RETINITIS PIGMENTOSA 72 		0.600 GeneticVariation disease UNIPROT Whole-exome sequencing reveals ZNF408 as a new gene associated with autosomal recessive retinitis pigmentosa with vitreal alterations. 25882705 2015
CUI: C4225316
Disease: EXUDATIVE VITREORETINOPATHY 6
EXUDATIVE VITREORETINOPATHY 6 		0.600 GeneticVariation disease UNIPROT ZNF408 is mutated in familial exudative vitreoretinopathy and is crucial for the development of zebrafish retinal vasculature. 23716654 2013
CUI: C4225315
Disease: RETINITIS PIGMENTOSA 72
RETINITIS PIGMENTOSA 72 		0.600 CausalMutation disease CLINVAR
CUI: C4225315
Disease: RETINITIS PIGMENTOSA 72
RETINITIS PIGMENTOSA 72 		0.600 Biomarker disease CTD_human
CUI: C4225316
Disease: EXUDATIVE VITREORETINOPATHY 6
EXUDATIVE VITREORETINOPATHY 6 		0.600 CausalMutation disease CLINVAR
CUI: C4225316
Disease: EXUDATIVE VITREORETINOPATHY 6
EXUDATIVE VITREORETINOPATHY 6 		0.600 Biomarker disease CTD_human
CUI: C0339539
Disease: Familial Exudative Vitreoretinopathy
Familial Exudative Vitreoretinopathy 		0.360 GeneticVariation disease BEFREE Genetic testing revealed a previously unreported mutation (c.1471A>G [p.T491A]) in the gene ZNF408, which has been associated with autosomal recessive retinitis pigmentosa and autosomal dominant familial exudative vitreoretinopathy.[Ophthalmic Surg Lasers Imaging Retina.2019;50:253-256.]. 30998249 2019
CUI: C0339539
Disease: Familial Exudative Vitreoretinopathy
Familial Exudative Vitreoretinopathy 		0.360 GeneticVariation disease BEFREE The fact that the p.H455Y mutation disrupts the expression of genes important for the development of vasculature sheds further light on the molecular mechanisms underlying ZNF408-associated FEVR. 29982478 2018
CUI: C0339539
Disease: Familial Exudative Vitreoretinopathy
Familial Exudative Vitreoretinopathy 		0.360 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 		0.360 Biomarker disease BEFREE In patients with no mutation detected, sequencing analyses for ZNF408, a novel gene potentially related to FEVR, and two other genes related to retinal development, LGR4 and ATOH7, were performed. 26244290 2015
CUI: C0339539
Disease: Familial Exudative Vitreoretinopathy
Familial Exudative Vitreoretinopathy 		0.360 Biomarker disease BEFREE Our study demonstrates that ZNF408, previously associated with Familial Exudative Vitreoretinopathy (FEVR), is a new gene causing arRP with vitreous condensations supporting the evidence that this protein plays additional functions into the human retina. 25882705 2015
CUI: C0339539
Disease: Familial Exudative Vitreoretinopathy
Familial Exudative Vitreoretinopathy 		0.360 GeneticVariation disease BEFREE Together, our data strongly suggest that mutant ZNF408 results in abnormal retinal vasculogenesis in humans and is associated with FEVR. 23716654 2013
CUI: C0339539
Disease: Familial Exudative Vitreoretinopathy
Familial Exudative Vitreoretinopathy 		0.360 GermlineCausalMutation disease ORPHANET
CUI: C1851402
Disease: Exudative vitreoretinopathy 1
Exudative vitreoretinopathy 1 		0.310 GeneticVariation disease BEFREE A missense mutation in ZNF408 (p.H455Y) was reported to underlie autosomal dominant FEVR in a large Dutch family, and ZNF408 was shown to play a role in the development of vasculature. 29982478 2018
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.310 GermlineCausalMutation disease ORPHANET Whole-exome sequencing reveals ZNF408 as a new gene associated with autosomal recessive retinitis pigmentosa with vitreal alterations. 25882705 2015
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.310 Biomarker disease BEFREE Our study demonstrates that ZNF408, previously associated with Familial Exudative Vitreoretinopathy (FEVR), is a new gene causing arRP with vitreous condensations supporting the evidence that this protein plays additional functions into the human retina. 25882705 2015
CUI: C1851402
Disease: Exudative vitreoretinopathy 1
Exudative vitreoretinopathy 1 		0.310 GermlineCausalMutation disease ORPHANET
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.100 Biomarker disease HPO
CUI: C0017601
Disease: Glaucoma
Glaucoma 		0.100 Biomarker disease HPO
CUI: C0018777
Disease: Conductive hearing loss
Conductive hearing loss 		0.100 Biomarker disease HPO
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		0.100 Biomarker disease HPO
CUI: C0020459
Disease: Hyperinsulinism
Hyperinsulinism 		0.100 Biomarker disease HPO
CUI: C0020619
Disease: Hypogonadism
Hypogonadism 		0.100 Biomarker disease HPO
CUI: C0022578
Disease: Keratoconus
Keratoconus 		0.100 Biomarker disease HPO
CUI: C0027092
Disease: Myopia
Myopia 		0.100 Biomarker disease HPO