Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 80144
Gene Symbol: FRAS1
FRAS1 		0.100 Biomarker phenotype HPO
Entrez Id: 10743
Gene Symbol: RAI1
RAI1 		0.100 Biomarker phenotype HPO
Entrez Id: 6495
Gene Symbol: SIX1
SIX1 		0.100 Biomarker phenotype HPO
Entrez Id: 9343
Gene Symbol: EFTUD2
EFTUD2 		0.100 Biomarker phenotype HPO
Entrez Id: 2138
Gene Symbol: EYA1
EYA1 		0.100 Biomarker phenotype HPO
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2 		0.010 GeneticVariation phenotype BEFREE Although the middle ear malformations in multiple FGFR2 gain-of-function disorders are clinically characterized, those in the FGFR2 loss-of-function disorder lacrimo-auriculo-dento-digital (LADD) syndrome are relatively undescribed. 30253032 2019