Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2077
Gene Symbol: ERF
ERF
0.400 Biomarker disease CTD_human Reduced dosage of ERF causes complex craniosynostosis in humans and mice and links ERK1/2 signaling to regulation of osteogenesis. 23354439 2013
Entrez Id: 80199
Gene Symbol: FUZ
FUZ
0.400 GermlineCausalMutation disease ORPHANET Mutations in the planar cell polarity gene, Fuzzy, are associated with neural tube defects in humans. 21840926 2011
Entrez Id: 2077
Gene Symbol: ERF
ERF
0.400 Biomarker disease HPO
Entrez Id: 80199
Gene Symbol: FUZ
FUZ
0.400 Biomarker disease HPO
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
0.110 GeneticVariation disease BEFREE The majority of associated anomalies, with the exception of psychomotor retardation and Chiari malformation, were detected more frequently in TWIST1 patients than in FGFR3 p.P250R patients. 22544111 2012
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
0.110 Biomarker disease HPO
Entrez Id: 3984
Gene Symbol: LIMK1
LIMK1
0.100 Biomarker disease HPO
Entrez Id: 6497
Gene Symbol: SKI
SKI
0.100 Biomarker disease HPO
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
0.100 CausalMutation disease CLINVAR
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
0.100 Biomarker disease HPO
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
0.100 Biomarker disease HPO
Entrez Id: 55159
Gene Symbol: RFWD3
RFWD3
0.100 Biomarker disease HPO
Entrez Id: 23592
Gene Symbol: LEMD3
LEMD3
0.100 Biomarker disease HPO
Entrez Id: 9031
Gene Symbol: BAZ1B
BAZ1B
0.100 Biomarker disease HPO
Entrez Id: 4854
Gene Symbol: NOTCH3
NOTCH3
0.100 Biomarker disease HPO
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
0.100 Biomarker disease HPO
Entrez Id: 11128
Gene Symbol: POLR3A
POLR3A
0.100 Biomarker disease HPO
Entrez Id: 5982
Gene Symbol: RFC2
RFC2
0.100 Biomarker disease HPO
Entrez Id: 81839
Gene Symbol: VANGL1
VANGL1
0.100 Biomarker disease HPO
Entrez Id: 1108
Gene Symbol: CHD4
CHD4
0.100 Biomarker disease HPO
Entrez Id: 64840
Gene Symbol: PORCN
PORCN
0.100 Biomarker disease HPO
Entrez Id: 6651
Gene Symbol: SON
SON
0.100 Biomarker disease HPO
Entrez Id: 51339
Gene Symbol: DACT1
DACT1
0.100 Biomarker disease HPO
Entrez Id: 5447
Gene Symbol: POR
POR
0.100 Biomarker disease HPO
Entrez Id: 6309
Gene Symbol: SC5D
SC5D
0.100 Biomarker disease HPO