Source: ALL

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: 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: 1280
Gene Symbol: COL2A1
COL2A1 		collagen type II alpha 1 chain 0.444 0.846 1.00
CUI: C1837260
Disease: Prominent forehead
Prominent forehead 		phenotype 0.100 None 0 0
Entrez Id: 85301
Gene Symbol: COL27A1
COL27A1 		collagen type XXVII alpha 1 chain 0.780 0.269 0.59
CUI: C1837260
Disease: Prominent forehead
Prominent forehead 		phenotype 0.100 None 0 0
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: 894
Gene Symbol: CCND2
CCND2 		cyclin D2 0.477 0.808 0.99
CUI: C1837260
Disease: Prominent forehead
Prominent forehead 		phenotype 0.100 None 0 0
Entrez Id: 1028
Gene Symbol: CDKN1C
CDKN1C 		cyclin dependent kinase inhibitor 1C 0.456 0.846 0.82
CUI: C1837260
Disease: Prominent forehead
Prominent forehead 		phenotype 0.100 None 0 0
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5 		cyclin dependent kinase like 5 0.522 0.692 1.00
CUI: C1837260
Disease: Prominent forehead
Prominent forehead 		phenotype 0.100 None 0 0
Entrez Id: 150468
Gene Symbol: CKAP2L
CKAP2L 		cytoskeleton associated protein 2 like 0.666 0.577 1.6E-04
CUI: C1837260
Disease: Prominent forehead
Prominent forehead 		phenotype 0.100 None 0 0
Entrez Id: 728294
Gene Symbol: D2HGDH
D2HGDH 		D-2-hydroxyglutarate dehydrogenase 0.691 0.500 5.4E-02
CUI: C1837260
Disease: Prominent forehead
Prominent forehead 		phenotype 0.100 None 0 0
Entrez Id: 1801
Gene Symbol: DPH1
DPH1 		diphthamide biosynthesis 1 0.653 0.538 8.0E-17
CUI: C1837260
Disease: Prominent forehead
Prominent forehead 		phenotype 0.100 None 0 0
Entrez Id: 1855
Gene Symbol: DVL1
DVL1 		dishevelled segment polarity protein 1 0.531 0.769 3.7E-06
CUI: C1837260
Disease: Prominent forehead
Prominent forehead 		phenotype 0.100 None 0 0
Entrez Id: 1857
Gene Symbol: DVL3
DVL3 		dishevelled segment polarity protein 3 0.537 0.731 0.39
CUI: C1837260
Disease: Prominent forehead
Prominent forehead 		phenotype 0.100 None 0 0
Entrez Id: 5977
Gene Symbol: DPF2
DPF2 		double PHD fingers 2 0.604 0.731 1.00
CUI: C1837260
Disease: Prominent forehead
Prominent forehead 		phenotype 0.100 None 0 0
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: 1778
Gene Symbol: DYNC1H1
DYNC1H1 		dynein cytoplasmic 1 heavy chain 1 0.547 0.769 1.00
CUI: C1837260
Disease: Prominent forehead
Prominent forehead 		phenotype 0.100 None 0 0
Entrez Id: 253738
Gene Symbol: EBF3
EBF3 		EBF transcription factor 3 0.595 0.731 1.00
CUI: C1837260
Disease: Prominent forehead
Prominent forehead 		phenotype 0.100 None 0 0
Entrez Id: 10913
Gene Symbol: EDAR
EDAR 		ectodysplasin A receptor 0.623 0.423 1.3E-06
CUI: C1837260
Disease: Prominent forehead
Prominent forehead 		phenotype 0.100 None 0 0
Entrez Id: 128178
Gene Symbol: EDARADD
EDARADD 		EDAR associated death domain 0.638 0.462 3.2E-04
CUI: C1837260
Disease: Prominent forehead
Prominent forehead 		phenotype 0.100 None 0 0
Entrez Id: 30008
Gene Symbol: EFEMP2
EFEMP2 		EGF containing fibulin extracellular matrix protein 2 0.559 0.692 8.2E-03
CUI: C1837260
Disease: Prominent forehead
Prominent forehead 		phenotype 0.100 None 0 0
Entrez Id: 55780
Gene Symbol: ERMARD
ERMARD 		ER membrane associated RNA degradation 0.647 0.538 5.8E-16
CUI: C1837260
Disease: Prominent forehead
Prominent forehead 		phenotype 0.100 None 0 0
Entrez Id: 2077
Gene Symbol: ERF
ERF 		ETS2 repressor factor 0.572 0.654 0.99
CUI: C1837260
Disease: Prominent forehead
Prominent forehead 		phenotype 0.100 None 0 0
Entrez Id: 63901
Gene Symbol: FAM111A
FAM111A 		family with sequence similarity 111 member A 0.663 0.462 2.2E-03
CUI: C1837260
Disease: Prominent forehead
Prominent forehead 		phenotype 0.100 None 0 0
Entrez Id: 2200
Gene Symbol: FBN1
FBN1 		fibrillin 1 0.417 0.846 1.00
CUI: C1837260
Disease: Prominent forehead
Prominent forehead 		phenotype 0.100 None 0 0
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: 2316
Gene Symbol: FLNA
FLNA 		filamin A 0.419 0.846 1.00
CUI: C1837260
Disease: Prominent forehead
Prominent forehead 		phenotype 0.100 None 0 0