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 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 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 CausalMutation disease CLINVAR
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		0.110 Biomarker disease HPO
CUI: C0011351
Disease: Dental Enamel Hypoplasia
Dental Enamel Hypoplasia 		0.100 Biomarker disease HPO
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.100 Biomarker disease HPO
CUI: C0020608
Disease: Hypodontia
Hypodontia 		0.100 Biomarker disease HPO
CUI: C0221260
Disease: Dystrophia unguium
Dystrophia unguium 		0.100 Biomarker disease HPO
CUI: C0221270
Disease: Acanthosis
Acanthosis 		0.100 Biomarker phenotype HPO
CUI: C0234632
Disease: Reduced visual acuity
Reduced visual acuity 		0.100 Biomarker phenotype HPO
CUI: C0265998
Disease: ANONYCHIA
ANONYCHIA 		0.100 Biomarker disease HPO
CUI: C0349588
Disease: Short stature
Short stature 		0.100 Biomarker phenotype HPO
CUI: C0870082
Disease: Hyperkeratosis
Hyperkeratosis 		0.100 Biomarker disease HPO
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		0.100 Biomarker phenotype HPO
CUI: C4553962
Disease: Hyperkeratosis, CTCAE
Hyperkeratosis, CTCAE 		0.100 Biomarker phenotype HPO
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: 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: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.010 Biomarker disease BEFREE A gain of GRHL2 might be a predictive marker for HCC recurrence. 18752864 2008
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.010 Biomarker disease LHGDN A gain of GRHL2 might be a predictive marker for HCC recurrence. 18752864 2008
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma 		0.020 AlteredExpression disease LHGDN Regulation of the hTERT promoter activity by MSH2, the hnRNPs K and D, and GRHL2 in human oral squamous cell carcinoma cells. 19015635 2009
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects 		0.020 GeneticVariation group BEFREE Grhl2 loss of function mutant mice were generated and displayed both cranial and spinal NTDs. 21262862 2011
CUI: C0080178
Disease: Spina Bifida
Spina Bifida 		0.020 AlteredExpression disease BEFREE Over-expression of Grhl2 causes spina bifida in the Axial defects mutant mouse. 21262862 2011