×
Entrez Id:
8943
Gene Symbol:
AP3D1
AP3D1
0.400
Biomarker
disease
HPO
×
Entrez Id:
4935
Gene Symbol:
GPR143
GPR143
0.400
GeneticVariation
disease
CLINVAR
×
Entrez Id:
4935
Gene Symbol:
GPR143
GPR143
0.400
Biomarker
disease
HPO
×
Entrez Id:
7299
Gene Symbol:
TYR
TYR
0.140
CausalMutation
disease
CLINVAR
×
Entrez Id:
7299
Gene Symbol:
TYR
TYR
0.140
Biomarker
disease
HPO
×
Entrez Id:
7299
Gene Symbol:
TYR
TYR
0.140
GeneticVariation
disease
CLINVAR
×
Entrez Id:
7306
Gene Symbol:
TYRP1
TYRP1
0.130
GeneticVariation
disease
CLINVAR
×
Entrez Id:
3257
Gene Symbol:
HPS1
HPS1
0.120
Biomarker
disease
HPO
×
Entrez Id:
4286
Gene Symbol:
MITF
MITF
0.120
Biomarker
disease
HPO
×
Entrez Id:
79803
Gene Symbol:
HPS6
HPS6
0.110
Biomarker
disease
HPO
×
Entrez Id:
8546
Gene Symbol:
AP3B1
AP3B1
0.110
Biomarker
disease
HPO
×
Entrez Id:
6497
Gene Symbol:
SKI
SKI
0.100
Biomarker
disease
HPO
×
Entrez Id:
1130
Gene Symbol:
LYST
LYST
0.100
Biomarker
disease
HPO
×
Entrez Id:
63976
Gene Symbol:
PRDM16
PRDM16
0.100
Biomarker
disease
HPO
×
Entrez Id:
2563
Gene Symbol:
GABRD
GABRD
0.100
Biomarker
disease
HPO
×
Entrez Id:
388552
Gene Symbol:
BLOC1S3
BLOC1S3
0.100
Biomarker
disease
HPO
×
Entrez Id:
11234
Gene Symbol:
HPS5
HPS5
0.100
Biomarker
disease
HPO
×
Entrez Id:
8514
Gene Symbol:
KCNAB2
KCNAB2
0.100
Biomarker
disease
HPO
×
Entrez Id:
26258
Gene Symbol:
BLOC1S6
BLOC1S6
0.100
Biomarker
disease
HPO
×
Entrez Id:
473
Gene Symbol:
RERE
RERE
0.100
Biomarker
disease
HPO
×
Entrez Id:
89781
Gene Symbol:
HPS4
HPS4
0.100
Biomarker
disease
HPO
×
Entrez Id:
57724
Gene Symbol:
EPG5
EPG5
0.100
Biomarker
disease
HPO
×
Entrez Id:
84062
Gene Symbol:
DTNBP1
DTNBP1
0.100
Biomarker
disease
HPO
×
Entrez Id:
23203
Gene Symbol:
PMPCA
PMPCA
0.100
Biomarker
disease
HPO
×
Entrez Id:
412
Gene Symbol:
STS
STS
0.020
GeneticVariation
disease
BEFREE
Two independent familial STS deletions, one of which is associated with a phenotype of ichthyosis plus ocular albinism (XI/OA1) and the other with nystagmus plus Rud syndrome, lack some but not all of the normal S232 PFGE fragments.
1979048
1990