Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 54800
Gene Symbol: KLHL24
KLHL24
0.100 CausalMutation phenotype CLINVAR Stabilizing mutations of KLHL24 ubiquitin ligase cause loss of keratin 14 and human skin fragility. 27798626 2016
Entrez Id: 54800
Gene Symbol: KLHL24
KLHL24
0.100 CausalMutation phenotype CLINVAR Monoallelic Mutations in the Translation Initiation Codon of KLHL24 Cause Skin Fragility. 27889062 2016
Entrez Id: 1832
Gene Symbol: DSP
DSP
0.100 Biomarker phenotype HPO
Entrez Id: 3728
Gene Symbol: JUP
JUP
0.100 Biomarker phenotype HPO
Entrez Id: 5159
Gene Symbol: PDGFRB
PDGFRB
0.100 Biomarker phenotype HPO
Entrez Id: 5317
Gene Symbol: PKP1
PKP1
0.100 Biomarker phenotype HPO
Entrez Id: 113189
Gene Symbol: CHST14
CHST14
0.100 Biomarker phenotype HPO
Entrez Id: 3655
Gene Symbol: ITGA6
ITGA6
0.100 Biomarker phenotype HPO
Entrez Id: 23086
Gene Symbol: EXPH5
EXPH5
0.100 Biomarker phenotype HPO
Entrez Id: 3675
Gene Symbol: ITGA3
ITGA3
0.100 Biomarker phenotype HPO
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1
0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 1278
Gene Symbol: COL1A2
COL1A2
0.100 Biomarker phenotype HPO
Entrez Id: 10269
Gene Symbol: ZMPSTE24
ZMPSTE24
0.100 CausalMutation phenotype CLINVAR
Entrez Id: 126792
Gene Symbol: B3GALT6
B3GALT6
0.100 Biomarker phenotype HPO
Entrez Id: 55612
Gene Symbol: FERMT1
FERMT1
0.100 Biomarker phenotype HPO
Entrez Id: 1289
Gene Symbol: COL5A1
COL5A1
0.100 Biomarker phenotype HPO
Entrez Id: 9509
Gene Symbol: ADAMTS2
ADAMTS2
0.100 Biomarker phenotype HPO
Entrez Id: 4312
Gene Symbol: MMP1
MMP1
0.100 Biomarker phenotype HPO
Entrez Id: 5339
Gene Symbol: PLEC
PLEC
0.100 Biomarker phenotype HPO
Entrez Id: 1281
Gene Symbol: COL3A1
COL3A1
0.100 Biomarker phenotype HPO
Entrez Id: 7389
Gene Symbol: UROD
UROD
0.100 Biomarker phenotype HPO
Entrez Id: 3077
Gene Symbol: HFE
HFE
0.100 Biomarker phenotype HPO
Entrez Id: 5566
Gene Symbol: PRKACA
PRKACA
0.100 Biomarker phenotype HPO
Entrez Id: 716
Gene Symbol: C1S
C1S
0.100 Biomarker phenotype HPO
Entrez Id: 1290
Gene Symbol: COL5A2
COL5A2
0.100 Biomarker phenotype HPO