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 GeneticVariation phenotype CLINVAR Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features. 28942966 2017
Entrez Id: 165
Gene Symbol: AEBP1
AEBP1 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 79147
Gene Symbol: FKRP
FKRP 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 3020
Gene Symbol: H3-3A
H3-3A 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 55023
Gene Symbol: PHIP
PHIP 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 55023
Gene Symbol: PHIP
PHIP 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 5351
Gene Symbol: PLOD1
PLOD1 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 6872
Gene Symbol: TAF1
TAF1 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 10847
Gene Symbol: SRCAP
SRCAP 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 6786
Gene Symbol: STIM1
STIM1 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 7227
Gene Symbol: TRPS1
TRPS1 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 1289
Gene Symbol: COL5A1
COL5A1 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 1778
Gene Symbol: DYNC1H1
DYNC1H1 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 2200
Gene Symbol: FBN1
FBN1 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 134728
Gene Symbol: IRAK1BP1
IRAK1BP1 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 5832
Gene Symbol: ALDH18A1
ALDH18A1 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 253738
Gene Symbol: EBF3
EBF3 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 7046
Gene Symbol: TGFBR1
TGFBR1 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 2904
Gene Symbol: GRIN2B
GRIN2B 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 3190
Gene Symbol: HNRNPK
HNRNPK 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 5979
Gene Symbol: RET
RET 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 2200
Gene Symbol: FBN1
FBN1 		0.100 CausalMutation phenotype CLINVAR