Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2186
Gene Symbol: BPTF
BPTF 		0.100 CausalMutation phenotype CLINVAR Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features. 28942966 2017
Entrez Id: 5746
Gene Symbol: PTH2R
PTH2R 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 5832
Gene Symbol: ALDH18A1
ALDH18A1 		0.100 Biomarker phenotype HPO
Entrez Id: 6335
Gene Symbol: SCN9A
SCN9A 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 4221
Gene Symbol: MEN1
MEN1 		0.100 Biomarker phenotype HPO
Entrez Id: 101929680
Gene Symbol: SCN1A-AS1
SCN1A-AS1 		0.100 GeneticVariation phenotype CLINVAR