Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6885
Gene Symbol: MAP3K7
MAP3K7 		0.110 Biomarker disease HPO
Entrez Id: 2316
Gene Symbol: FLNA
FLNA 		0.110 Biomarker disease HPO
Entrez Id: 9968
Gene Symbol: MED12
MED12 		0.110 Biomarker disease HPO
Entrez Id: 1302
Gene Symbol: COL11A2
COL11A2 		0.110 Biomarker disease HPO
Entrez Id: 6309
Gene Symbol: SC5D
SC5D 		0.110 Biomarker disease HPO
Entrez Id: 8481
Gene Symbol: OFD1
OFD1 		0.110 Biomarker disease HPO
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1 		0.110 CausalMutation disease CLINVAR
Entrez Id: 3480
Gene Symbol: IGF1R
IGF1R 		0.110 Biomarker disease HPO
Entrez Id: 25836
Gene Symbol: NIPBL
NIPBL 		0.110 Biomarker disease HPO
Entrez Id: 157680
Gene Symbol: VPS13B
VPS13B 		0.110 Biomarker disease HPO
Entrez Id: 29980
Gene Symbol: DONSON
DONSON 		0.110 Biomarker disease HPO
Entrez Id: 6899
Gene Symbol: TBX1
TBX1 		0.110 Biomarker disease HPO
Entrez Id: 545
Gene Symbol: ATR
ATR 		0.110 GeneticVariation disease CLINVAR
Entrez Id: 9968
Gene Symbol: MED12
MED12 		0.110 GeneticVariation disease CLINVAR
Entrez Id: 545
Gene Symbol: ATR
ATR 		0.110 Biomarker disease HPO
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1 		0.110 Biomarker disease HPO
Entrez Id: 84294
Gene Symbol: UTP23
UTP23 		0.100 GeneticVariation disease CLINVAR A novel RAD21 p.(Gln592del) variant expands the clinical description of Cornelia de Lange syndrome type 4 - Review of the literature. 30125677 2019
Entrez Id: 5885
Gene Symbol: RAD21
RAD21 		0.100 GeneticVariation disease CLINVAR A novel RAD21 p.(Gln592del) variant expands the clinical description of Cornelia de Lange syndrome type 4 - Review of the literature. 30125677 2019
Entrez Id: 8621
Gene Symbol: CDK13
CDK13 		0.100 GeneticVariation disease CLINVAR Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders. 28807008 2017
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: 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: 2186
Gene Symbol: BPTF
BPTF 		0.100 CausalMutation disease CLINVAR Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features. 28942966 2017
Entrez Id: 51053
Gene Symbol: GMNN
GMNN 		0.100 CausalMutation disease CLINVAR De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome. 26637980 2015
Entrez Id: 10459
Gene Symbol: MAD2L2
MAD2L2 		0.100 Biomarker disease HPO
Entrez Id: 84126
Gene Symbol: ATRIP
ATRIP 		0.100 Biomarker disease HPO