Source: ALL
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: 6299
Gene Symbol: SALL1
SALL1 		0.120 Biomarker disease HPO
Entrez Id: 51360
Gene Symbol: MBTPS2
MBTPS2 		0.120 Biomarker disease HPO
Entrez Id: 2138
Gene Symbol: EYA1
EYA1 		0.110 Biomarker disease HPO
Entrez Id: 79659
Gene Symbol: DYNC2H1
DYNC2H1 		0.110 Biomarker disease HPO
Entrez Id: 55165
Gene Symbol: CEP55
CEP55 		0.110 Biomarker disease HPO
Entrez Id: 5076
Gene Symbol: PAX2
PAX2 		0.110 Biomarker disease HPO
Entrez Id: 7707
Gene Symbol: ZNF148
ZNF148 		0.100 Biomarker disease HPO
Entrez Id: 8239
Gene Symbol: USP9X
USP9X 		0.100 Biomarker disease HPO
Entrez Id: 6834
Gene Symbol: SURF1
SURF1 		0.100 Biomarker disease HPO
Entrez Id: 81603
Gene Symbol: TRIM8
TRIM8 		0.100 Biomarker disease HPO
Entrez Id: 3691
Gene Symbol: ITGB4
ITGB4 		0.100 Biomarker disease HPO
Entrez Id: 8516
Gene Symbol: ITGA8
ITGA8 		0.100 Biomarker disease HPO
Entrez Id: 2775
Gene Symbol: GNAO1
GNAO1 		0.100 Biomarker disease HPO
Entrez Id: 2737
Gene Symbol: GLI3
GLI3 		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: 51227
Gene Symbol: PIGP
PIGP 		0.100 Biomarker disease HPO
Entrez Id: 79848
Gene Symbol: CSPP1
CSPP1 		0.100 Biomarker disease HPO
Entrez Id: 3655
Gene Symbol: ITGA6
ITGA6 		0.100 Biomarker disease HPO
Entrez Id: 9096
Gene Symbol: TBX18
TBX18 		0.100 Biomarker disease HPO
Entrez Id: 85358
Gene Symbol: SHANK3
SHANK3 		0.100 Biomarker disease HPO
Entrez Id: 9215
Gene Symbol: LARGE1
LARGE1 		0.100 Biomarker disease HPO