Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5447
Gene Symbol: POR
POR 		0.100 Biomarker disease HPO
Entrez Id: 9871
Gene Symbol: SEC24D
SEC24D 		0.100 Biomarker disease HPO
Entrez Id: 3590
Gene Symbol: IL11RA
IL11RA 		0.100 Biomarker disease HPO
Entrez Id: 147372
Gene Symbol: CCBE1
CCBE1 		0.100 Biomarker disease HPO
Entrez Id: 60529
Gene Symbol: ALX4
ALX4 		0.100 Biomarker disease HPO
Entrez Id: 2961
Gene Symbol: GTF2E2
GTF2E2 		0.100 Biomarker disease HPO
Entrez Id: 29957
Gene Symbol: SLC25A24
SLC25A24 		0.100 Biomarker disease HPO
Entrez Id: 5034
Gene Symbol: P4HB
P4HB 		0.100 Biomarker disease HPO
Entrez Id: 9401
Gene Symbol: RECQL4
RECQL4 		0.100 Biomarker disease HPO
Entrez Id: 5648
Gene Symbol: MASP1
MASP1 		0.100 Biomarker disease HPO
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1 		0.100 Biomarker disease HPO
Entrez Id: 51715
Gene Symbol: RAB23
RAB23 		0.100 Biomarker disease HPO
Entrez Id: 54928
Gene Symbol: IMPAD1
IMPAD1 		0.100 Biomarker disease HPO
Entrez Id: 64919
Gene Symbol: BCL11B
BCL11B 		0.010 GeneticVariation disease BEFREE Using whole-genome sequencing, we identified a novel, de novo variant in BCL11B, c.7C>A, encoding an R3S substitution (p.R3S), in a male patient with coronal suture synostosis. 31067316 2019