Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 8481
Gene Symbol: OFD1
OFD1
0.100 Biomarker disease HPO
Entrez Id: 145173
Gene Symbol: B3GLCT
B3GLCT
0.100 Biomarker disease HPO
Entrez Id: 129880
Gene Symbol: BBS5
BBS5
0.100 Biomarker disease HPO
Entrez Id: 65250
Gene Symbol: CPLANE1
CPLANE1
0.100 Biomarker disease HPO
Entrez Id: 54903
Gene Symbol: MKS1
MKS1
0.100 Biomarker disease HPO
Entrez Id: 9851
Gene Symbol: KIAA0753
KIAA0753
0.100 Biomarker disease HPO
Entrez Id: 4613
Gene Symbol: MYCN
MYCN
0.100 CausalMutation disease CLINVAR
Entrez Id: 8481
Gene Symbol: OFD1
OFD1
0.100 CausalMutation disease CLINVAR
Entrez Id: 79140
Gene Symbol: CCDC28B
CCDC28B
0.100 Biomarker disease HPO
Entrez Id: 3481
Gene Symbol: IGF2
IGF2
0.100 Biomarker disease HPO
Entrez Id: 585
Gene Symbol: BBS4
BBS4
0.100 Biomarker disease HPO
Entrez Id: 54880
Gene Symbol: BCOR
BCOR
0.100 Biomarker disease HPO
Entrez Id: 51259
Gene Symbol: TMEM216
TMEM216
0.100 Biomarker disease HPO
Entrez Id: 79770
Gene Symbol: TXNDC15
TXNDC15
0.100 GeneticVariation disease CLINVAR
Entrez Id: 9897
Gene Symbol: WASHC5
WASHC5
0.100 Biomarker disease HPO
Entrez Id: 3207
Gene Symbol: HOXA11
HOXA11
0.100 Biomarker disease HPO
Entrez Id: 641
Gene Symbol: BLM
BLM
0.100 Biomarker disease HPO
Entrez Id: 8642
Gene Symbol: DCHS1
DCHS1
0.100 Biomarker disease HPO
Entrez Id: 5147
Gene Symbol: PDE6D
PDE6D
0.100 Biomarker disease HPO
Entrez Id: 11253
Gene Symbol: MAN1B1
MAN1B1
0.100 GeneticVariation disease CLINVAR
Entrez Id: 374654
Gene Symbol: KIF7
KIF7
0.100 Biomarker disease HPO
Entrez Id: 9968
Gene Symbol: MED12
MED12
0.100 Biomarker disease HPO
Entrez Id: 2316
Gene Symbol: FLNA
FLNA
0.100 Biomarker disease HPO
Entrez Id: 7287
Gene Symbol: TULP1
TULP1
0.100 CausalMutation disease CLINVAR
Entrez Id: 582
Gene Symbol: BBS1
BBS1
0.100 CausalMutation disease CLINVAR