Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 144568
Gene Symbol: A2ML1
A2ML1
0.100 Biomarker disease HPO
Entrez Id: 25
Gene Symbol: ABL1
ABL1
0.100 CausalMutation disease CLINVAR Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations. 28288113 2017
Entrez Id: 90
Gene Symbol: ACVR1
ACVR1
0.100 Biomarker disease HPO
Entrez Id: 2334
Gene Symbol: AFF2
AFF2
0.100 Biomarker disease HPO
Entrez Id: 207
Gene Symbol: AKT1
AKT1
0.100 Biomarker disease HPO
Entrez Id: 139285
Gene Symbol: AMER1
AMER1
0.100 Biomarker disease HPO
Entrez Id: 9949
Gene Symbol: AMMECR1
AMMECR1
0.100 Biomarker disease HPO
Entrez Id: 29123
Gene Symbol: ANKRD11
ANKRD11
0.100 GeneticVariation disease CLINVAR
Entrez Id: 29123
Gene Symbol: ANKRD11
ANKRD11
0.100 CausalMutation disease CLINVAR
Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B
0.100 CausalMutation disease CLINVAR
Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B
0.100 Biomarker disease HPO
Entrez Id: 545
Gene Symbol: ATR
ATR
0.100 Biomarker disease HPO
Entrez Id: 84126
Gene Symbol: ATRIP
ATRIP
0.100 Biomarker disease HPO
Entrez Id: 546
Gene Symbol: ATRX
ATRX
0.100 Biomarker disease HPO
Entrez Id: 145173
Gene Symbol: B3GLCT
B3GLCT
0.100 Biomarker disease HPO
Entrez Id: 9031
Gene Symbol: BAZ1B
BAZ1B
0.100 Biomarker disease HPO
Entrez Id: 54880
Gene Symbol: BCOR
BCOR
0.100 Biomarker disease HPO
Entrez Id: 613
Gene Symbol: BCR
BCR
0.100 Biomarker disease HPO
Entrez Id: 727857
Gene Symbol: BHLHA9
BHLHA9
0.100 Biomarker disease HPO
Entrez Id: 641
Gene Symbol: BLM
BLM
0.100 Biomarker disease HPO
Entrez Id: 650
Gene Symbol: BMP2
BMP2
0.100 Biomarker disease HPO
Entrez Id: 658
Gene Symbol: BMPR1B
BMPR1B
0.100 Biomarker disease HPO
Entrez Id: 2186
Gene Symbol: BPTF
BPTF
0.100 GeneticVariation disease CLINVAR Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features. 28942966 2017
Entrez Id: 673
Gene Symbol: BRAF
BRAF
0.100 Biomarker disease HPO
Entrez Id: 221927
Gene Symbol: BRAT1
BRAT1
0.100 Biomarker disease HPO