Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4157
Gene Symbol: MC1R
MC1R 		0.110 Biomarker phenotype BEFREE Screening of TYR, OCA2, GPR143, and MC1R in patients with congenital nystagmus, macular hypoplasia, and fundus hypopigmentation indicating albinism. 21541274 2011
Entrez Id: 4157
Gene Symbol: MC1R
MC1R 		0.110 Biomarker phenotype HPO
Entrez Id: 8506
Gene Symbol: CNTNAP1
CNTNAP1 		0.100 GeneticVariation phenotype CLINVAR Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy. 27668699 2017
Entrez Id: 778
Gene Symbol: CACNA1F
CACNA1F 		0.100 Biomarker phenotype HPO
Entrez Id: 1282
Gene Symbol: COL4A1
COL4A1 		0.100 Biomarker phenotype HPO
Entrez Id: 1910
Gene Symbol: EDNRB
EDNRB 		0.100 Biomarker phenotype HPO
Entrez Id: 10166
Gene Symbol: SLC25A15
SLC25A15 		0.100 Biomarker phenotype HPO
Entrez Id: 51091
Gene Symbol: SEPSECS
SEPSECS 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 7299
Gene Symbol: TYR
TYR 		0.100 Biomarker phenotype HPO
Entrez Id: 166378
Gene Symbol: SPATA5
SPATA5 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 4286
Gene Symbol: MITF
MITF 		0.100 Biomarker phenotype HPO
Entrez Id: 10594
Gene Symbol: PRPF8
PRPF8 		0.100 Biomarker phenotype HPO
Entrez Id: 84059
Gene Symbol: ADGRV1
ADGRV1 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 57724
Gene Symbol: EPG5
EPG5 		0.100 Biomarker phenotype HPO
Entrez Id: 5077
Gene Symbol: PAX3
PAX3 		0.100 Biomarker phenotype HPO
Entrez Id: 374654
Gene Symbol: KIF7
KIF7 		0.100 Biomarker phenotype HPO
Entrez Id: 51091
Gene Symbol: SEPSECS
SEPSECS 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 51151
Gene Symbol: SLC45A2
SLC45A2 		0.100 Biomarker phenotype HPO
Entrez Id: 4948
Gene Symbol: OCA2
OCA2 		0.100 Biomarker phenotype HPO
Entrez Id: 6663
Gene Symbol: SOX10
SOX10 		0.100 Biomarker phenotype HPO
Entrez Id: 26258
Gene Symbol: BLOC1S6
BLOC1S6 		0.100 Biomarker phenotype HPO