Source: CLINVAR

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 673
Gene Symbol: BRAF
BRAF
B-Raf proto-oncogene, serine/threonine kinase 0.319 0.846 1.00
CUI: C1837260
Disease: Prominent forehead
Prominent forehead
phenotype 0.100 None 1.000 2 1 2006 2006
Entrez Id: 51053
Gene Symbol: GMNN
GMNN
geminin DNA replication inhibitor 0.554 0.808 0.11
CUI: C1837260
Disease: Prominent forehead
Prominent forehead
phenotype 0.100 None 1.000 1 1 2015 2015
Entrez Id: 10056
Gene Symbol: FARSB
FARSB
phenylalanyl-tRNA synthetase subunit beta 0.682 0.500 3.3E-03
CUI: C1837260
Disease: Prominent forehead
Prominent forehead
phenotype 0.100 None 0 1
Entrez Id: 5190
Gene Symbol: PEX6
PEX6
peroxisomal biogenesis factor 6 0.547 0.731 6.3E-06
CUI: C1837260
Disease: Prominent forehead
Prominent forehead
phenotype 0.100 None 0 2
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
patched 1 0.398 0.885 1.00
CUI: C1837260
Disease: Prominent forehead
Prominent forehead
phenotype 0.100 None 0 1
Entrez Id: 57459
Gene Symbol: GATAD2B
GATAD2B
GATA zinc finger domain containing 2B 0.593 0.654 1.00
CUI: C1837260
Disease: Prominent forehead
Prominent forehead
phenotype 0.100 None 0 1
Entrez Id: 57498
Gene Symbol: KIDINS220
KIDINS220
kinase D interacting substrate 220 0.534 0.769 7.4E-02
CUI: C1837260
Disease: Prominent forehead
Prominent forehead
phenotype 0.100 None 0 1
Entrez Id: 6197
Gene Symbol: RPS6KA3
RPS6KA3
ribosomal protein S6 kinase A3 0.491 0.846 1.00
CUI: C1837260
Disease: Prominent forehead
Prominent forehead
phenotype 0.100 None 0 1
Entrez Id: 6872
Gene Symbol: TAF1
TAF1
TATA-box binding protein associated factor 1 0.581 0.808 1.00
CUI: C1837260
Disease: Prominent forehead
Prominent forehead
phenotype 0.100 None 0 1
Entrez Id: 7227
Gene Symbol: TRPS1
TRPS1
transcriptional repressor GATA binding 1 0.537 0.769 1.00
CUI: C1837260
Disease: Prominent forehead
Prominent forehead
phenotype 0.100 None 0 1
Entrez Id: 4882
Gene Symbol: NPR2
NPR2
natriuretic peptide receptor 2 0.573 0.615 4.2E-05
CUI: C1837260
Disease: Prominent forehead
Prominent forehead
phenotype 0.100 None 0 1
Entrez Id: 4784
Gene Symbol: NFIX
NFIX
nuclear factor I X 0.547 0.769 1.00
CUI: C1837260
Disease: Prominent forehead
Prominent forehead
phenotype 0.100 None 0 2
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
methyl-CpG binding protein 2 0.414 0.846 0.89
CUI: C1837260
Disease: Prominent forehead
Prominent forehead
phenotype 0.100 None 0 1
Entrez Id: 1186
Gene Symbol: CLCN7
CLCN7
chloride voltage-gated channel 7 0.590 0.731 0.27
CUI: C1837260
Disease: Prominent forehead
Prominent forehead
phenotype 0.100 None 0 1
Entrez Id: 124454
Gene Symbol: EARS2
EARS2
glutamyl-tRNA synthetase 2, mitochondrial 0.666 0.538 1.1E-08
CUI: C1837260
Disease: Prominent forehead
Prominent forehead
phenotype 0.100 None 0 1
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1
collagen type I alpha 1 chain 0.430 0.808 1.00
CUI: C1837260
Disease: Prominent forehead
Prominent forehead
phenotype 0.100 None 0 1
Entrez Id: 1859
Gene Symbol: DYRK1A
DYRK1A
dual specificity tyrosine phosphorylation regulated kinase 1A 0.533 0.769 1.00
CUI: C1837260
Disease: Prominent forehead
Prominent forehead
phenotype 0.100 None 0 1
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
fibroblast growth factor receptor 2 0.380 0.808 1.00
CUI: C1837260
Disease: Prominent forehead
Prominent forehead
phenotype 0.100 None 0 1
Entrez Id: 2475
Gene Symbol: MTOR
MTOR
mechanistic target of rapamycin kinase 0.343 0.885 1.00
CUI: C1837260
Disease: Prominent forehead
Prominent forehead
phenotype 0.100 None 0 1
Entrez Id: 25839
Gene Symbol: COG4
COG4
component of oligomeric golgi complex 4 0.631 0.615 4.0E-09
CUI: C1837260
Disease: Prominent forehead
Prominent forehead
phenotype 0.100 None 0 1
Entrez Id: 27086
Gene Symbol: FOXP1
FOXP1
forkhead box P1 0.460 0.808 1.00
CUI: C1837260
Disease: Prominent forehead
Prominent forehead
phenotype 0.100 None 0 1
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
potassium voltage-gated channel subfamily Q member 1 0.485 0.769 4.5E-08
CUI: C1837260
Disease: Prominent forehead
Prominent forehead
phenotype 0.100 None 0 1
Entrez Id: 84231
Gene Symbol: TRAF7
TRAF7
TNF receptor associated factor 7 0.623 0.423 2.2E-02
CUI: C1837260
Disease: Prominent forehead
Prominent forehead
phenotype 0.100 None 0 1