KRT25, keratin 25, 147183

N. diseases: 25; N. variants: 3
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs879253749
rs879253749
Entrez Id: 147183
Gene Symbol: KRT25
KRT25
CUI: C4225214
Disease:
WOOLLY HAIR, AUTOSOMAL RECESSIVE 3 		0.800 GeneticVariation UNIPROT A Missense Mutation within the Helix Termination Motif of KRT25 Causes Autosomal Dominant Woolly Hair/Hypotrichosis. 28899683 2018
dbSNP: rs879253749
rs879253749
Entrez Id: 147183
Gene Symbol: KRT25
KRT25
CUI: C4225214
Disease:
WOOLLY HAIR, AUTOSOMAL RECESSIVE 3 		0.800 GeneticVariation UNIPROT Autosomal Recessive Hypotrichosis with Woolly Hair Caused by a Mutation in the Keratin 25 Gene Expressed in Hair Follicles. 26902920 2016
dbSNP: rs879253749
rs879253749
Entrez Id: 147183
Gene Symbol: KRT25
KRT25
CUI: C4225214
Disease:
WOOLLY HAIR, AUTOSOMAL RECESSIVE 3 		0.800 GeneticVariation UNIPROT A homozygous missense variant in type I keratin KRT25 causes autosomal recessive woolly hair. 26160856 2015
dbSNP: rs766783183
rs766783183
Entrez Id: 147183
Gene Symbol: KRT25
KRT25
CUI: C4225214
Disease:
WOOLLY HAIR, AUTOSOMAL RECESSIVE 3 		G 0.800 CausalMutation CLINVAR
dbSNP: rs766783183
rs766783183
Entrez Id: 147183
Gene Symbol: KRT25
KRT25
CUI: C4225214
Disease:
WOOLLY HAIR, AUTOSOMAL RECESSIVE 3 		0.800 GeneticVariation UNIPROT
dbSNP: rs879253749
rs879253749
Entrez Id: 147183
Gene Symbol: KRT25
KRT25
CUI: C4225214
Disease:
WOOLLY HAIR, AUTOSOMAL RECESSIVE 3 		A 0.800 CausalMutation CLINVAR
dbSNP: rs766783183
rs766783183
Entrez Id: 147183
Gene Symbol: KRT25
KRT25
CUI: C3279470
Disease:
HYPOTRICHOSIS 8 		G 0.700 CausalMutation CLINVAR A homozygous missense variant in type I keratin KRT25 causes autosomal recessive woolly hair. 26160856 2015
dbSNP: rs72821893
rs72821893
Entrez Id: 147183
Gene Symbol: KRT25
KRT25
CUI: C0031106
Disease:
Aggressive Periodontitis 		0.010 GeneticVariation BEFREE The missense single nucleotide variations (SNVs) rs142548867 in EEFSEC (c.668C>T), rs574301770 in ZNF136 (c.466C>G), and rs72821893 in KRT25 (c.800G>A) and the frameshift indels rs37146475 in GPRC6A (c.2323-2324insT) and c.1366_1372insGGAGCAG in ELN were identified in AgP and have a predicted functional impact on proteins. 31373687 2020
dbSNP: rs72821893
rs72821893
Entrez Id: 147183
Gene Symbol: KRT25
KRT25
CUI: C0001342
Disease:
Acute periodontitis 		0.010 GeneticVariation BEFREE The missense single nucleotide variations (SNVs) rs142548867 in EEFSEC (c.668C>T), rs574301770 in ZNF136 (c.466C>G), and rs72821893 in KRT25 (c.800G>A) and the frameshift indels rs37146475 in GPRC6A (c.2323-2324insT) and c.1366_1372insGGAGCAG in ELN were identified in AgP and have a predicted functional impact on proteins. 31373687 2020