Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3339
Gene Symbol: HSPG2
HSPG2 		0.110 GeneticVariation disease BEFREE Exome sequencing identified rare variants in genes HSPG2 and ATP2B4 in a family segregating developmental dysplasia of the hip. 28327142 2017
Entrez Id: 3339
Gene Symbol: HSPG2
HSPG2 		0.110 Biomarker disease HPO
Entrez Id: 10522
Gene Symbol: DEAF1
DEAF1 		0.100 GeneticVariation disease CLINVAR Functional analysis of novel DEAF1 variants identified through clinical exome sequencing expands DEAF1-associated neurodevelopmental disorder (DAND) phenotype. 28940898 2017
Entrez Id: 375790
Gene Symbol: AGRN
AGRN 		0.100 Biomarker disease HPO
Entrez Id: 8085
Gene Symbol: KMT2D
KMT2D 		0.100 Biomarker disease HPO
Entrez Id: 1103
Gene Symbol: CHAT
CHAT 		0.100 Biomarker disease HPO
Entrez Id: 6572
Gene Symbol: SLC18A3
SLC18A3 		0.100 Biomarker disease HPO
Entrez Id: 1305
Gene Symbol: COL13A1
COL13A1 		0.100 Biomarker disease HPO
Entrez Id: 529
Gene Symbol: ATP6V1E1
ATP6V1E1 		0.100 Biomarker disease HPO
Entrez Id: 4633
Gene Symbol: MYL2
MYL2 		0.100 Biomarker disease HPO
Entrez Id: 9200
Gene Symbol: HACD1
HACD1 		0.100 Biomarker disease HPO
Entrez Id: 2316
Gene Symbol: FLNA
FLNA 		0.100 Biomarker disease HPO
Entrez Id: 23545
Gene Symbol: ATP6V0A2
ATP6V0A2 		0.100 Biomarker disease HPO
Entrez Id: 6495
Gene Symbol: SIX1
SIX1 		0.100 Biomarker disease HPO
Entrez Id: 523
Gene Symbol: ATP6V1A
ATP6V1A 		0.100 Biomarker disease HPO
Entrez Id: 5832
Gene Symbol: ALDH18A1
ALDH18A1 		0.100 Biomarker disease HPO
Entrez Id: 2273
Gene Symbol: FHL1
FHL1 		0.100 Biomarker disease HPO
Entrez Id: 64324
Gene Symbol: NSD1
NSD1 		0.100 Biomarker disease HPO
Entrez Id: 7531
Gene Symbol: YWHAE
YWHAE 		0.100 Biomarker disease HPO
Entrez Id: 60482
Gene Symbol: SLC5A7
SLC5A7 		0.100 Biomarker disease HPO
Entrez Id: 7403
Gene Symbol: KDM6A
KDM6A 		0.100 Biomarker disease HPO
Entrez Id: 6885
Gene Symbol: MAP3K7
MAP3K7 		0.100 Biomarker disease HPO
Entrez Id: 1723
Gene Symbol: DHODH
DHODH 		0.100 Biomarker disease HPO
Entrez Id: 29072
Gene Symbol: SETD2
SETD2 		0.100 Biomarker disease HPO
Entrez Id: 3835
Gene Symbol: KIF22
KIF22 		0.100 Biomarker disease HPO