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: 51684
Gene Symbol: SUFU
SUFU 		0.100 Biomarker phenotype HPO
Entrez Id: 202018
Gene Symbol: TAPT1
TAPT1 		0.100 Biomarker phenotype HPO
Entrez Id: 5295
Gene Symbol: PIK3R1
PIK3R1 		0.100 Biomarker phenotype HPO
Entrez Id: 3756
Gene Symbol: KCNH1
KCNH1 		0.100 Biomarker phenotype HPO
Entrez Id: 2109
Gene Symbol: ETFB
ETFB 		0.100 Biomarker phenotype HPO
Entrez Id: 2296
Gene Symbol: FOXC1
FOXC1 		0.100 Biomarker phenotype HPO
Entrez Id: 2706
Gene Symbol: GJB2
GJB2 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 3008
Gene Symbol: H1-4
H1-4 		0.100 Biomarker phenotype HPO
Entrez Id: 113179
Gene Symbol: ADAT3
ADAT3 		0.100 Biomarker phenotype HPO
Entrez Id: 5745
Gene Symbol: PTH1R
PTH1R 		0.100 Biomarker phenotype HPO
Entrez Id: 7353
Gene Symbol: UFD1
UFD1 		0.100 Biomarker phenotype HPO
Entrez Id: 54941
Gene Symbol: RNF125
RNF125 		0.100 Biomarker phenotype HPO
Entrez Id: 1290
Gene Symbol: COL5A2
COL5A2 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 4297
Gene Symbol: KMT2A
KMT2A 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 100532724
Gene Symbol: NPHP3-ACAD11
NPHP3-ACAD11 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 421
Gene Symbol: ARVCF
ARVCF 		0.100 Biomarker phenotype HPO
Entrez Id: 1146
Gene Symbol: CHRNG
CHRNG 		0.100 Biomarker phenotype HPO
Entrez Id: 57688
Gene Symbol: ZSWIM6
ZSWIM6 		0.100 Biomarker phenotype HPO
Entrez Id: 51715
Gene Symbol: RAB23
RAB23 		0.100 Biomarker phenotype HPO
Entrez Id: 10682
Gene Symbol: EBP
EBP 		0.100 Biomarker phenotype HPO
Entrez Id: 526
Gene Symbol: ATP6V1B2
ATP6V1B2 		0.100 Biomarker phenotype HPO
Entrez Id: 7290
Gene Symbol: HIRA
HIRA 		0.100 Biomarker phenotype HPO
Entrez Id: 1281
Gene Symbol: COL3A1
COL3A1 		0.100 Biomarker phenotype HPO
Entrez Id: 114928
Gene Symbol: GPRASP2
GPRASP2 		0.100 Biomarker phenotype HPO