Source: ORPHANET

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 57688
Gene Symbol: ZSWIM6
ZSWIM6
CUI: C0796182
Disease: Acromelic frontonasal dysplasia
Acromelic frontonasal dysplasia 		0.300 GermlineCausalMutation ORPHANET Exome sequencing identifies a recurrent de novo ZSWIM6 mutation associated with acromelic frontonasal dysostosis. 25105228

2014
Entrez Id: 7784
Gene Symbol: ZP3
ZP3
CUI: C4540205
Disease: OOCYTE MATURATION DEFECT 3
OOCYTE MATURATION DEFECT 3 		0.600 GermlineCausalMutation ORPHANET Variant Interpretation: Functional Assays to the Rescue. 28886340

2017
Entrez Id: 7784
Gene Symbol: ZP3
ZP3
CUI: C4014291
Disease: OOCYTE MATURATION DEFECT 1
OOCYTE MATURATION DEFECT 1 		0.300 GermlineCausalMutation ORPHANET Variant Interpretation: Functional Assays to the Rescue. 28886340

2017
Entrez Id: 7783
Gene Symbol: ZP2
ZP2
CUI: C4014291
Disease: OOCYTE MATURATION DEFECT 1
OOCYTE MATURATION DEFECT 1 		0.300 GermlineCausalMutation ORPHANET Dosage effects of ZP2 and ZP3 heterozygous mutations cause human infertility. 28646452

2017
Entrez Id: 7783
Gene Symbol: ZP2
ZP2
CUI: C4540205
Disease: OOCYTE MATURATION DEFECT 3
OOCYTE MATURATION DEFECT 3 		0.300 GermlineCausalMutation ORPHANET Dosage effects of ZP2 and ZP3 heterozygous mutations cause human infertility. 28646452

2017
Entrez Id: 22917
Gene Symbol: ZP1
ZP1
CUI: C4014291
Disease: OOCYTE MATURATION DEFECT 1
OOCYTE MATURATION DEFECT 1 		0.600 GermlineCausalMutation ORPHANET Mutant ZP1 in familial infertility. 24670168

2014
Entrez Id: 22917
Gene Symbol: ZP1
ZP1
CUI: C4540205
Disease: OOCYTE MATURATION DEFECT 3
OOCYTE MATURATION DEFECT 3 		0.300 GermlineCausalMutation ORPHANET Mutant ZP1 in familial infertility. 24670168

2014
Entrez Id: 9326
Gene Symbol: ZNHIT3
ZNHIT3
CUI: C1850055
Disease: PEHO syndrome
PEHO syndrome 		0.730 GermlineCausalMutation ORPHANET Transfection of cell lines with ZNHIT3 expression vectors showed that the PEHO syndrome mutant protein is unstable. 28335020

2017
Entrez Id: 347344
Gene Symbol: ZNF81
ZNF81
CUI: C2931498
Disease: Mental Retardation, X-Linked 1
Mental Retardation, X-Linked 1 		0.300 GermlineCausalMutation ORPHANET Zinc finger 81 (ZNF81) mutations associated with X-linked mental retardation. 15121780

2004
Entrez Id: 79755
Gene Symbol: ZNF750
ZNF750
CUI: C1853258
Disease: Seborrhea-Like Dermatitis with Psoriasiform Elements
Seborrhea-Like Dermatitis with Psoriasiform Elements 		0.600 GermlineCausalMutation ORPHANET Seborrhea-like dermatitis with psoriasiform elements caused by a mutation in ZNF750, encoding a putative C2H2 zinc finger protein. 16751772

2006
Entrez Id: 7552
Gene Symbol: ZNF711
ZNF711
CUI: C2931498
Disease: Mental Retardation, X-Linked 1
Mental Retardation, X-Linked 1 		0.300 GermlineCausalMutation ORPHANET A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation. 19377476

2009
Entrez Id: 9640
Gene Symbol: ZNF592
ZNF592
CUI: C1847114
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 5
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 5 		0.610 GeneticVariation ORPHANET CAMOS (Cerebellar Ataxia with Mental retardation, Optic atrophy and Skin abnormalities) is a rare autosomal recessive syndrome characterized by a nonprogressive congenital cerebellar ataxia associated with mental retardation, optic atrophy, and skin abnormalities. 20531441

2010
Entrez Id: 9640
Gene Symbol: ZNF592
ZNF592
CUI: C1847114
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 5
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 5 		0.610 GeneticVariation ORPHANET WDR73 Mutations Cause Infantile Neurodegeneration and Variable Glomerular Kidney Disease. 26123727

2015
Entrez Id: 84627
Gene Symbol: ZNF469
ZNF469
CUI: C0268344
Disease: Ehlers-Danlos syndrome 6B
Ehlers-Danlos syndrome 6B 		0.800 GermlineCausalMutation ORPHANET Brittle cornea syndrome associated with a missense mutation in the zinc-finger 469 gene. 19661234

2010
Entrez Id: 84627
Gene Symbol: ZNF469
ZNF469
CUI: C0268344
Disease: Ehlers-Danlos syndrome 6B
Ehlers-Danlos syndrome 6B 		0.800 GermlineCausalMutation ORPHANET Blue sclera with and without corneal fragility (brittle cornea syndrome) in a consanguineous family harboring ZNF469 mutation (p.E1392X). 20938016

2010
Entrez Id: 23090
Gene Symbol: ZNF423
ZNF423
CUI: C1855675
Disease: Arima syndrome
Arima syndrome 		0.500 GermlineCausalMutation ORPHANET Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling. 22863007

2012
Entrez Id: 23090
Gene Symbol: ZNF423
ZNF423
CUI: C1865872
Disease: NEPHRONOPHTHISIS 2
NEPHRONOPHTHISIS 2 		0.300 GermlineCausalMutation ORPHANET Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling. 22863007

2012
Entrez Id: 7592
Gene Symbol: ZNF41
ZNF41
CUI: C2931498
Disease: Mental Retardation, X-Linked 1
Mental Retardation, X-Linked 1 		0.310 GeneticVariation ORPHANET XLID-causing mutations and associated genes challenged in light of data from large-scale human exome sequencing. 23871722

2013
Entrez Id: 79797
Gene Symbol: ZNF408
ZNF408
CUI: C0339539
Disease: Familial Exudative Vitreoretinopathy
Familial Exudative Vitreoretinopathy 		0.360 GermlineCausalMutation ORPHANET

Entrez Id: 79797
Gene Symbol: ZNF408
ZNF408
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.310 GermlineCausalMutation ORPHANET Whole-exome sequencing reveals ZNF408 as a new gene associated with autosomal recessive retinitis pigmentosa with vitreal alterations. 25882705

2015
Entrez Id: 79797
Gene Symbol: ZNF408
ZNF408
CUI: C1851402
Disease: Exudative vitreoretinopathy 1
Exudative vitreoretinopathy 1 		0.310 GermlineCausalMutation ORPHANET

Entrez Id: 22891
Gene Symbol: ZNF365
ZNF365
CUI: C0027404
Disease: Narcolepsy
Narcolepsy 		0.400 SusceptibilityMutation ORPHANET Genome wide analysis of narcolepsy in China implicates novel immune loci and reveals changes in association prior to versus after the 2009 H1N1 influenza pandemic. 24204295

2013
Entrez Id: 22891
Gene Symbol: ZNF365
ZNF365
CUI: C0751362
Disease: Narcolepsy-Cataplexy Syndrome
Narcolepsy-Cataplexy Syndrome 		0.300 SusceptibilityMutation ORPHANET Genome wide analysis of narcolepsy in China implicates novel immune loci and reveals changes in association prior to versus after the 2009 H1N1 influenza pandemic. 24204295

2013
Entrez Id: 63925
Gene Symbol: ZNF335
ZNF335
CUI: C3554499
Disease: MICROCEPHALY 10, PRIMARY, AUTOSOMAL RECESSIVE
MICROCEPHALY 10, PRIMARY, AUTOSOMAL RECESSIVE 		0.700 GermlineCausalMutation ORPHANET Microcephaly gene links trithorax and REST/NRSF to control neural stem cell proliferation and differentiation. 23178126

2012
Entrez Id: 7700
Gene Symbol: ZNF141
ZNF141
CUI: C3887487
Disease: Postaxial polydactyly type A
Postaxial polydactyly type A 		0.310 GermlineCausalMutation ORPHANET Nosology and classification of genetic skeletal disorders: 2015 revision. 26394607

2015