KRT25, keratin 25, 147183

N. diseases: 25; N. variants: 3
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4225214
Disease: WOOLLY HAIR, AUTOSOMAL RECESSIVE 3
WOOLLY HAIR, AUTOSOMAL RECESSIVE 3 		0.600 GeneticVariation disease UNIPROT A Missense Mutation within the Helix Termination Motif of KRT25 Causes Autosomal Dominant Woolly Hair/Hypotrichosis. 28899683 2018
CUI: C4225214
Disease: WOOLLY HAIR, AUTOSOMAL RECESSIVE 3
WOOLLY HAIR, AUTOSOMAL RECESSIVE 3 		0.600 GeneticVariation disease UNIPROT Autosomal Recessive Hypotrichosis with Woolly Hair Caused by a Mutation in the Keratin 25 Gene Expressed in Hair Follicles. 26902920 2016
CUI: C4225214
Disease: WOOLLY HAIR, AUTOSOMAL RECESSIVE 3
WOOLLY HAIR, AUTOSOMAL RECESSIVE 3 		0.600 GeneticVariation disease UNIPROT A homozygous missense variant in type I keratin KRT25 causes autosomal recessive woolly hair. 26160856 2015
CUI: C4225214
Disease: WOOLLY HAIR, AUTOSOMAL RECESSIVE 3
WOOLLY HAIR, AUTOSOMAL RECESSIVE 3 		0.600 Biomarker disease GENOMICS_ENGLAND A homozygous missense variant in type I keratin KRT25 causes autosomal recessive woolly hair. 26160856 2015
CUI: C4225214
Disease: WOOLLY HAIR, AUTOSOMAL RECESSIVE 3
WOOLLY HAIR, AUTOSOMAL RECESSIVE 3 		0.600 CausalMutation disease CLINVAR
CUI: C0343073
Disease: Wooly hair
Wooly hair 		0.400 GermlineCausalMutation phenotype ORPHANET A homozygous missense variant in type I keratin KRT25 causes autosomal recessive woolly hair. 26160856 2015
CUI: C0343073
Disease: Wooly hair
Wooly hair 		0.400 Biomarker phenotype HPO
CUI: C3502073
Disease: Woolly Hair, Autosomal Recessive
Woolly Hair, Autosomal Recessive 		0.310 GeneticVariation disease BEFREE A homozygous missense variant in type I keratin KRT25 causes autosomal recessive woolly hair. 26160856 2015
CUI: C3502073
Disease: Woolly Hair, Autosomal Recessive
Woolly Hair, Autosomal Recessive 		0.310 Biomarker disease CTD_human
CUI: C0345427
Disease: Woolly hair, congenital
Woolly hair, congenital 		0.300 GermlineCausalMutation disease ORPHANET A homozygous missense variant in type I keratin KRT25 causes autosomal recessive woolly hair. 26160856 2015
CUI: C0020678
Disease: Hypotrichosis
Hypotrichosis 		0.110 GeneticVariation disease BEFREE Horses heterozygous or homozygous only for KRT25 variant showed curly coat and hypotrichosis, whereas horses with SP6 variant only, exhibited curly coat without hypotrichosis. 29686323 2018
CUI: C0020678
Disease: Hypotrichosis
Hypotrichosis 		0.110 Biomarker disease HPO
CUI: C3279470
Disease: HYPOTRICHOSIS 8
HYPOTRICHOSIS 8 		0.100 CausalMutation disease CLINVAR A homozygous missense variant in type I keratin KRT25 causes autosomal recessive woolly hair. 26160856 2015
CUI: C0035300
Disease: Abnormal retinal morphology
Abnormal retinal morphology 		0.100 Biomarker phenotype HPO
CUI: C0038379
Disease: Strabismus
Strabismus 		0.100 Biomarker disease HPO
CUI: C0086543
Disease: Cataract
Cataract 		0.100 Biomarker disease HPO
CUI: C0154936
Disease: Pupillary abnormality
Pupillary abnormality 		0.100 Biomarker phenotype HPO
CUI: C0263485
Disease: Clastothrix
Clastothrix 		0.100 Biomarker disease HPO
CUI: C0263490
Disease: Brittle hair
Brittle hair 		0.100 Biomarker disease HPO
CUI: C0423867
Disease: Fine hair
Fine hair 		0.100 Biomarker phenotype HPO
CUI: C0558165
Disease: Curly hair (finding)
Curly hair (finding) 		0.100 Biomarker phenotype HPO
CUI: C1832348
Disease: Slow-growing hair
Slow-growing hair 		0.100 Biomarker phenotype HPO
CUI: C1843300
Disease: Sparse eyelashes
Sparse eyelashes 		0.100 Biomarker phenotype HPO
CUI: C1857042
Disease: Sparse scalp hair
Sparse scalp hair 		0.100 Biomarker phenotype HPO
CUI: C1857206
Disease: Sparse lateral eyebrow
Sparse lateral eyebrow 		0.100 Biomarker phenotype HPO