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: 9241
Gene Symbol: NOG
NOG 		0.100 Biomarker phenotype HPO
Entrez Id: 1822
Gene Symbol: ATN1
ATN1 		0.100 Biomarker phenotype HPO
Entrez Id: 5879
Gene Symbol: RAC1
RAC1 		0.100 Biomarker phenotype HPO
Entrez Id: 2033
Gene Symbol: EP300
EP300 		0.100 Biomarker phenotype HPO
Entrez Id: 1387
Gene Symbol: CREBBP
CREBBP 		0.100 Biomarker phenotype HPO
Entrez Id: 1009
Gene Symbol: CDH11
CDH11 		0.100 Biomarker phenotype HPO
Entrez Id: 150468
Gene Symbol: CKAP2L
CKAP2L 		0.100 Biomarker phenotype HPO
Entrez Id: 9839
Gene Symbol: ZEB2
ZEB2 		0.100 Biomarker phenotype HPO
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1 		0.100 Biomarker phenotype HPO
Entrez Id: 7965
Gene Symbol: AIMP2
AIMP2 		0.100 Biomarker phenotype HPO
Entrez Id: 7319
Gene Symbol: UBE2A
UBE2A 		0.100 Biomarker phenotype HPO
Entrez Id: 4247
Gene Symbol: MGAT2
MGAT2 		0.100 Biomarker phenotype HPO
Entrez Id: 79228
Gene Symbol: THOC6
THOC6 		0.100 Biomarker phenotype HPO
Entrez Id: 7707
Gene Symbol: ZNF148
ZNF148 		0.100 Biomarker phenotype HPO
Entrez Id: 80816
Gene Symbol: ASXL3
ASXL3 		0.100 Biomarker phenotype HPO
Entrez Id: 2697
Gene Symbol: GJA1
GJA1 		0.100 Biomarker phenotype HPO