Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 90332
Gene Symbol: EXOC3L2
EXOC3L2
0.300 Biomarker disease GENOMICS_ENGLAND Biallelic mutations in EXOC3L2 cause a novel syndrome that affects the brain, kidney and blood. 30327448 2019
Entrez Id: 90332
Gene Symbol: EXOC3L2
EXOC3L2
0.300 Biomarker disease GENOMICS_ENGLAND Characterizing the morbid genome of ciliopathies. 27894351 2016
Entrez Id: 2625
Gene Symbol: GATA3
GATA3
0.200 Biomarker disease HPO
Entrez Id: 5076
Gene Symbol: PAX2
PAX2
0.110 Biomarker disease HPO
Entrez Id: 6299
Gene Symbol: SALL1
SALL1
0.110 Biomarker disease HPO
Entrez Id: 2138
Gene Symbol: EYA1
EYA1
0.110 Biomarker disease HPO
Entrez Id: 55165
Gene Symbol: CEP55
CEP55
0.110 Biomarker disease HPO
Entrez Id: 25915
Gene Symbol: NDUFAF3
NDUFAF3
0.100 Biomarker disease HPO
Entrez Id: 5339
Gene Symbol: PLEC
PLEC
0.100 Biomarker disease HPO
Entrez Id: 9096
Gene Symbol: TBX18
TBX18
0.100 Biomarker disease HPO
Entrez Id: 3655
Gene Symbol: ITGA6
ITGA6
0.100 Biomarker disease HPO
Entrez Id: 9091
Gene Symbol: PIGQ
PIGQ
0.100 Biomarker disease HPO
Entrez Id: 3736
Gene Symbol: KCNA1
KCNA1
0.100 Biomarker disease HPO
Entrez Id: 6495
Gene Symbol: SIX1
SIX1
0.100 Biomarker disease HPO
Entrez Id: 80114
Gene Symbol: BICC1
BICC1
0.100 Biomarker disease HPO
Entrez Id: 9215
Gene Symbol: LARGE1
LARGE1
0.100 Biomarker disease HPO
Entrez Id: 8239
Gene Symbol: USP9X
USP9X
0.100 Biomarker disease HPO
Entrez Id: 7707
Gene Symbol: ZNF148
ZNF148
0.100 Biomarker disease HPO
Entrez Id: 2218
Gene Symbol: FKTN
FKTN
0.100 Biomarker disease HPO
Entrez Id: 147912
Gene Symbol: SIX5
SIX5
0.100 Biomarker disease HPO
Entrez Id: 8573
Gene Symbol: CASK
CASK
0.100 Biomarker disease HPO
Entrez Id: 27031
Gene Symbol: NPHP3
NPHP3
0.100 Biomarker disease HPO
Entrez Id: 4761
Gene Symbol: NEUROD2
NEUROD2
0.100 Biomarker disease HPO
Entrez Id: 10806
Gene Symbol: SDCCAG8
SDCCAG8
0.100 Biomarker disease HPO
Entrez Id: 11284
Gene Symbol: PNKP
PNKP
0.100 Biomarker disease HPO