×
Entrez Id: 114548
Gene Symbol: NLRP3
NLRP3
0.110
Biomarker
phenotype
HPO
×
Entrez Id: 2707
Gene Symbol: GJB3
GJB3
0.110
Biomarker
phenotype
HPO
×
Entrez Id: 51360
Gene Symbol: MBTPS2
MBTPS2
0.110
Biomarker
phenotype
HPO
×
Entrez Id: 2068
Gene Symbol: ERCC2
ERCC2
0.110
Biomarker
phenotype
HPO
×
Entrez Id: 7051
Gene Symbol: TGM1
TGM1
0.110
Biomarker
phenotype
HPO
×
Entrez Id: 4210
Gene Symbol: MEFV
MEFV
0.110
Biomarker
phenotype
HPO
×
Entrez Id: 2186
Gene Symbol: BPTF
BPTF
0.100
CausalMutation
phenotype
CLINVAR
Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.
28942966 2017
×
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
0.100
GeneticVariation
phenotype
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: 339400
Gene Symbol: FLG-AS1
FLG-AS1
0.100
CausalMutation
phenotype
CLINVAR
Common loss-of-function variants of the epidermal barrier protein filaggrin are a major predisposing factor for atopic dermatitis.
16550169 2006
×
Entrez Id: 339400
Gene Symbol: FLG-AS1
FLG-AS1
0.100
CausalMutation
phenotype
CLINVAR
Loss-of-function variations within the filaggrin gene predispose for atopic dermatitis with allergic sensitizations.
16815158 2006
×
Entrez Id: 339400
Gene Symbol: FLG-AS1
FLG-AS1
0.100
CausalMutation
phenotype
CLINVAR
Loss-of-function mutations in the gene encoding filaggrin cause ichthyosis vulgaris.
16444271 2006
×
Entrez Id: 339400
Gene Symbol: FLG-AS1
FLG-AS1
0.100
CausalMutation
phenotype
CLINVAR
Filaggrin loss-of-function mutations predispose to phenotypes involved in the atopic march.
17030239 2006
×
Entrez Id: 7518
Gene Symbol: XRCC4
XRCC4
0.100
Biomarker
phenotype
HPO
×
Entrez Id: 1349
Gene Symbol: COX7B
COX7B
0.100
Biomarker
phenotype
HPO
×
Entrez Id: 4221
Gene Symbol: MEN1
MEN1
0.100
Biomarker
phenotype
HPO
×
Entrez Id: 3858
Gene Symbol: KRT10
KRT10
0.100
Biomarker
phenotype
HPO
×
Entrez Id: 64065
Gene Symbol: PERP
PERP
0.100
Biomarker
phenotype
HPO
×
Entrez Id: 127534
Gene Symbol: GJB4
GJB4
0.100
Biomarker
phenotype
HPO
×
Entrez Id: 3248
Gene Symbol: HPGD
HPGD
0.100
Biomarker
phenotype
HPO
×
Entrez Id: 643418
Gene Symbol: LIPN
LIPN
0.100
Biomarker
phenotype
HPO
×
Entrez Id: 3852
Gene Symbol: KRT5
KRT5
0.100
Biomarker
phenotype
HPO
×
Entrez Id: 1508
Gene Symbol: CTSB
CTSB
0.100
Biomarker
phenotype
HPO
×
Entrez Id: 9487
Gene Symbol: PIGL
PIGL
0.100
Biomarker
phenotype
HPO
×
Entrez Id: 55630
Gene Symbol: SLC39A4
SLC39A4
0.100
Biomarker
phenotype
HPO
×
Entrez Id: 9333
Gene Symbol: TGM5
TGM5
0.100
Biomarker
phenotype
HPO