Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2312
Gene Symbol: FLG
FLG
CUI: C0151908
Disease: Dry skin
Dry skin 		0.140 CausalMutation CLINVAR

Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C0151908
Disease: Dry skin
Dry skin 		0.100 GeneticVariation CLINVAR A novel p.Leu(381)Phe mutation in presenilin 1 is associated with very early onset and unusually fast progressing dementia as well as lysosomal inclusions typically seen in Kufs disease. 24121961

2014
Entrez Id: 1291
Gene Symbol: COL6A1
COL6A1
CUI: C0151908
Disease: Dry skin
Dry skin 		0.100 CausalMutation CLINVAR

Entrez Id: 6125
Gene Symbol: RPL5
RPL5
CUI: C0151908
Disease: Dry skin
Dry skin 		0.100 CausalMutation CLINVAR

Entrez Id: 388650
Gene Symbol: DIPK1A
DIPK1A
CUI: C0151908
Disease: Dry skin
Dry skin 		0.100 CausalMutation CLINVAR

Entrez Id: 10848
Gene Symbol: PPP1R13L
PPP1R13L
CUI: C0151908
Disease: Dry skin
Dry skin 		0.100 CausalMutation CLINVAR

Entrez Id: 339400
Gene Symbol: FLG-AS1
FLG-AS1
CUI: C0151908
Disease: Dry skin
Dry skin 		0.100 CausalMutation CLINVAR

Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0151908
Disease: Dry skin
Dry skin 		0.100 CausalMutation CLINVAR

Entrez Id: 2776
Gene Symbol: GNAQ
GNAQ
CUI: C0151908
Disease: Dry skin
Dry skin 		0.100 CausalMutation CLINVAR

Entrez Id: 3778
Gene Symbol: KCNMA1
KCNMA1
CUI: C0151908
Disease: Dry skin
Dry skin 		0.100 CausalMutation CLINVAR

Entrez Id: 101929328
Gene Symbol: KCNMA1-AS1
KCNMA1-AS1
CUI: C0151908
Disease: Dry skin
Dry skin 		0.100 CausalMutation CLINVAR

Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C0151908
Disease: Dry skin
Dry skin 		0.100 CausalMutation CLINVAR

Entrez Id: 1896
Gene Symbol: EDA
EDA
CUI: C0151908
Disease: Dry skin
Dry skin 		0.100 CausalMutation CLINVAR

Entrez Id: 2737
Gene Symbol: GLI3
GLI3
CUI: C0151908
Disease: Dry skin
Dry skin 		0.100 CausalMutation CLINVAR