Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4014987
Disease: Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome
Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome 		0.700 GermlineCausalMutation disease ORPHANET Mutations in GRHL2 result in an autosomal-recessive ectodermal Dysplasia syndrome. 25152456 2014
CUI: C4014987
Disease: Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome
Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome 		0.700 GeneticVariation disease UNIPROT Mutations in GRHL2 result in an autosomal-recessive ectodermal Dysplasia syndrome. 25152456 2014
CUI: C4014987
Disease: Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome
Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome 		0.700 Biomarker disease GENOMICS_ENGLAND Mutations in GRHL2 result in an autosomal-recessive ectodermal Dysplasia syndrome. 25152456 2014
CUI: C4014987
Disease: Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome
Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome 		0.700 Biomarker disease CTD_human
CUI: C4014987
Disease: Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome
Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C4014987
Disease: Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome
Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome 		0.700 CausalMutation disease CLINVAR
CUI: C1837640
Disease: Deafness, Autosomal Dominant 28
Deafness, Autosomal Dominant 28 		0.610 Biomarker disease GENOMICS_ENGLAND Mutations in GRHL2 result in an autosomal-recessive ectodermal Dysplasia syndrome. 25152456 2014
CUI: C1837640
Disease: Deafness, Autosomal Dominant 28
Deafness, Autosomal Dominant 28 		0.610 GeneticVariation disease BEFREE Injection of human wild-type GRHL2 mRNA but not the mutant GRHL2 mRNA derived from DFNA28 patients into grhl2b(T086) mutant embryos could rescue the inner-ear defects. 21610158 2011
CUI: C1837640
Disease: Deafness, Autosomal Dominant 28
Deafness, Autosomal Dominant 28 		0.610 Biomarker disease CTD_human
CUI: C1837640
Disease: Deafness, Autosomal Dominant 28
Deafness, Autosomal Dominant 28 		0.610 CausalMutation disease CLINVAR
CUI: C4747961
Disease: CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 4
CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 4 		0.400 Biomarker disease GENOMICS_ENGLAND Ectopic GRHL2 Expression Due to Non-coding Mutations Promotes Cell State Transition and Causes Posterior Polymorphous Corneal Dystrophy 4. 29499165 2018
CUI: C4747961
Disease: CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 4
CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 4 		0.400 CausalMutation disease CLINVAR
CUI: C0339284
Disease: Polymorphous corneal dystrophy
Polymorphous corneal dystrophy 		0.330 Biomarker disease BEFREE Name of the disease (synonyms) CUGC for posterior polymorphous corneal dystrophy (PPCD).OMIM# of the disease 122000; 609141; 618031.Name of the analysed genes or DNA/chromosome segments OVOL2 (PPCD1); ZEB1 (PPCD3); GRHL2 (PPCD4).OMIM# of the gene(s) 616441; 189909; 608576. Review of the analytical and clinical validity as well as of the clinical utility of DNA-based testing for variants in theOVOL2, ZEB1andGRHL2gene(s) in a diagnostic setting, predictive and parental settings and for risk assesment in relatives. 31201376 2020
CUI: C0339284
Disease: Polymorphous corneal dystrophy
Polymorphous corneal dystrophy 		0.330 GeneticVariation disease BEFREE Additionally, as the majority of pedigrees affected with PPCD remain genetically unresolved, we screened the promoter, exon 1, and intron 1 regions of GRHL2 in 24 PPCD probands who do not harbor a ZEB1 or OVOL2 mutation. 31233731 2019
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.330 Biomarker phenotype BEFREE Here we examined the ethnic differences, allele and genotype frequencies of the NAT2, GRM7, and GRHL2 genes pooled samples of healthy Hungarian and healthy and hearing impaired Roma people. 29455378 2019
CUI: C0339284
Disease: Polymorphous corneal dystrophy
Polymorphous corneal dystrophy 		0.330 GeneticVariation disease BEFREE Ectopic GRHL2 Expression Due to Non-coding Mutations Promotes Cell State Transition and Causes Posterior Polymorphous Corneal Dystrophy 4. 29499165 2018
CUI: C0339284
Disease: Polymorphous corneal dystrophy
Polymorphous corneal dystrophy 		0.330 GermlineCausalMutation disease ORPHANET Ectopic GRHL2 Expression Due to Non-coding Mutations Promotes Cell State Transition and Causes Posterior Polymorphous Corneal Dystrophy 4. 29499165 2018
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.330 Biomarker phenotype GENOMICS_ENGLAND Mutations in GRHL2 result in an autosomal-recessive ectodermal Dysplasia syndrome. 25152456 2014
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.330 GeneticVariation phenotype BEFREE The grainyhead-like 2 gene (GRHL2) single nucleotide polymorphism is not associated with age-related hearing impairment in Han Chinese. 21557239 2011
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.330 GeneticVariation phenotype BEFREE The grainyhead like 2 gene (GRHL2), alias TFCP2L3, is associated with age-related hearing impairment. 17921507 2008
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.300 Biomarker disease CLINGEN Distinct Expression Patterns Of Causative Genes Responsible For Hereditary Progressive Hearing Loss In Non-Human Primate Cochlea. 26915689 2016
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.300 Biomarker disease CLINGEN Confirmation of GRHL2 as the gene for the DFNA28 locus. 23813623 2013
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.300 Biomarker disease CLINGEN Grhl2 deficiency impairs otic development and hearing ability in a zebrafish model of the progressive dominant hearing loss DFNA28. 21610158 2011
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.300 Biomarker disease CLINGEN Mutation of a transcription factor, TFCP2L3, causes progressive autosomal dominant hearing loss, DFNA28. 12393799 2002
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		0.110 GeneticVariation disease BEFREE More than 10 years ago, a c.1609_1610insC mutation in the grainyhead-like 2 (GRHL2) gene was identified in a large family with nonsyndromic sensorineural hearing loss, so far presenting the only evidence for GRHL2 being an autosomal-dominant deafness gene (DFNA28). 23813623 2013