Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 26090
Gene Symbol: ABHD12
ABHD12
0.400 Biomarker phenotype GENOMICS_ENGLAND Exome sequencing extends the phenotypic spectrum for ABHD12 mutations: from syndromic to nonsyndromic retinal degeneration. 24697911 2014
Entrez Id: 26090
Gene Symbol: ABHD12
ABHD12
0.400 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: 2581
Gene Symbol: GALC
GALC
0.100 Biomarker phenotype HPO
Entrez Id: 5660
Gene Symbol: PSAP
PSAP
0.100 Biomarker phenotype HPO
Entrez Id: 4564
Gene Symbol: TRNH
TRNH
0.100 Biomarker phenotype HPO
Entrez Id: 3508
Gene Symbol: IGHMBP2
IGHMBP2
0.100 Biomarker phenotype HPO
Entrez Id: 9896
Gene Symbol: FIG4
FIG4
0.100 Biomarker phenotype HPO
Entrez Id: 4567
Gene Symbol: TRNL1
TRNL1
0.100 Biomarker phenotype HPO
Entrez Id: 8803
Gene Symbol: SUCLA2
SUCLA2
0.100 Biomarker phenotype HPO
Entrez Id: 2071
Gene Symbol: ERCC3
ERCC3
0.100 Biomarker phenotype HPO
Entrez Id: 5190
Gene Symbol: PEX6
PEX6
0.100 Biomarker phenotype HPO
Entrez Id: 4574
Gene Symbol: TRNS1
TRNS1
0.100 Biomarker phenotype HPO
Entrez Id: 4538
Gene Symbol: ND4
ND4
0.100 Biomarker phenotype HPO
Entrez Id: 4359
Gene Symbol: MPZ
MPZ
0.100 Biomarker phenotype HPO
Entrez Id: 2074
Gene Symbol: ERCC6
ERCC6
0.100 Biomarker phenotype HPO
Entrez Id: 4540
Gene Symbol: ND5
ND5
0.100 Biomarker phenotype HPO
Entrez Id: 1785
Gene Symbol: DNM2
DNM2
0.100 Biomarker phenotype HPO
Entrez Id: 3295
Gene Symbol: HSD17B4
HSD17B4
0.100 Biomarker phenotype HPO
Entrez Id: 5165
Gene Symbol: PDK3
PDK3
0.100 Biomarker phenotype HPO
Entrez Id: 547
Gene Symbol: KIF1A
KIF1A
0.100 Biomarker phenotype HPO
Entrez Id: 79784
Gene Symbol: MYH14
MYH14
0.100 Biomarker phenotype HPO
Entrez Id: 1161
Gene Symbol: ERCC8
ERCC8
0.100 Biomarker phenotype HPO
Entrez Id: 54463
Gene Symbol: RETREG1
RETREG1
0.100 Biomarker phenotype HPO
Entrez Id: 23114
Gene Symbol: NFASC
NFASC
0.100 Biomarker phenotype HPO