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: 673
Gene Symbol: BRAF
BRAF
B-Raf proto-oncogene, serine/threonine kinase 0.319 0.846 1.00
CUI: C0221356
Disease: Brachycephaly
Brachycephaly
disease 0.100 None 0 0
Entrez Id: 4313
Gene Symbol: MMP2
MMP2
matrix metallopeptidase 2 0.333 0.923 0.84
CUI: C0221356
Disease: Brachycephaly
Brachycephaly
disease 0.100 None 0 0
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
fibroblast growth factor receptor 1 0.362 0.885 1.00
CUI: C0221356
Disease: Brachycephaly
Brachycephaly
disease 0.400 None 0 0
Entrez Id: 2146
Gene Symbol: EZH2
EZH2
enhancer of zeste 2 polycomb repressive complex 2 subunit 0.376 0.885 1.00
CUI: C0221356
Disease: Brachycephaly
Brachycephaly
disease 0.300 None 1.000 1 0 2015 2015
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
fibroblast growth factor receptor 2 0.380 0.808 1.00
CUI: C0221356
Disease: Brachycephaly
Brachycephaly
disease 0.400 None 1.000 3 0 1996 2006
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
protein tyrosine phosphatase non-receptor type 11 0.385 0.923 1.00
CUI: C0221356
Disease: Brachycephaly
Brachycephaly
disease 0.100 None 0 1
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
fibroblast growth factor receptor 3 0.391 0.846 1.6E-05
CUI: C0221356
Disease: Brachycephaly
Brachycephaly
disease 0.410 None 1.000 2 1 2000 2002
Entrez Id: 2697
Gene Symbol: GJA1
GJA1
gap junction protein alpha 1 0.393 0.885 0.16
CUI: C0221356
Disease: Brachycephaly
Brachycephaly
disease 0.100 None 0 0
Entrez Id: 4790
Gene Symbol: NFKB1
NFKB1
nuclear factor kappa B subunit 1 0.396 0.923 1.00
CUI: C0221356
Disease: Brachycephaly
Brachycephaly
disease 0.100 None 0 0
Entrez Id: 7291
Gene Symbol: TWIST1
TWIST1
twist family bHLH transcription factor 1 0.397 0.846 0.34
CUI: C0221356
Disease: Brachycephaly
Brachycephaly
disease 0.600 None 1.000 2 0 2002 2007
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
patched 1 0.398 0.885 1.00
CUI: C0221356
Disease: Brachycephaly
Brachycephaly
disease 0.100 None 0 0
Entrez Id: 5573
Gene Symbol: PRKAR1A
PRKAR1A
protein kinase cAMP-dependent type I regulatory subunit alpha 0.401 0.846 1.00
CUI: C0221356
Disease: Brachycephaly
Brachycephaly
disease 0.100 None 0 1
Entrez Id: 4297
Gene Symbol: KMT2A
KMT2A
lysine methyltransferase 2A 0.410 0.885 1.00
CUI: C0221356
Disease: Brachycephaly
Brachycephaly
disease 0.100 None 0 0
Entrez Id: 931
Gene Symbol: MS4A1
MS4A1
membrane spanning 4-domains A1 0.411 0.846 5.1E-05
CUI: C0221356
Disease: Brachycephaly
Brachycephaly
disease 0.100 None 0 0
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
methyl-CpG binding protein 2 0.414 0.846 0.89
CUI: C0221356
Disease: Brachycephaly
Brachycephaly
disease 0.100 None 0 0
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
fibrillin 1 0.417 0.846 1.00
CUI: C0221356
Disease: Brachycephaly
Brachycephaly
disease 0.100 None 0 0
Entrez Id: 5894
Gene Symbol: RAF1
RAF1
Raf-1 proto-oncogene, serine/threonine kinase 0.418 0.885 0.85
CUI: C0221356
Disease: Brachycephaly
Brachycephaly
disease 0.100 None 0 0
Entrez Id: 930
Gene Symbol: CD19
CD19
CD19 molecule 0.430 0.885 0.90
CUI: C0221356
Disease: Brachycephaly
Brachycephaly
disease 0.100 None 0 0
Entrez Id: 650
Gene Symbol: BMP2
BMP2
bone morphogenetic protein 2 0.432 0.846 0.99
CUI: C0221356
Disease: Brachycephaly
Brachycephaly
disease 0.300 None 1.000 1 0 2012 2012
Entrez Id: 860
Gene Symbol: RUNX2
RUNX2
RUNX family transcription factor 2 0.437 0.846 0.95
CUI: C0221356
Disease: Brachycephaly
Brachycephaly
disease 0.100 None 0 0
Entrez Id: 55636
Gene Symbol: CHD7
CHD7
chromodomain helicase DNA binding protein 7 0.441 0.846 1.00
CUI: C0221356
Disease: Brachycephaly
Brachycephaly
disease 0.100 None 0 1
Entrez Id: 4323
Gene Symbol: MMP14
MMP14
matrix metallopeptidase 14 0.447 0.769 1.00
CUI: C0221356
Disease: Brachycephaly
Brachycephaly
disease 0.100 None 0 0
Entrez Id: 546
Gene Symbol: ATRX
ATRX
ATRX chromatin remodeler 0.452 0.808 1.00
CUI: C0221356
Disease: Brachycephaly
Brachycephaly
disease 0.100 None 0 0
Entrez Id: 79813
Gene Symbol: EHMT1
EHMT1
euchromatic histone lysine methyltransferase 1 0.460 0.808 1.00
CUI: C0221356
Disease: Brachycephaly
Brachycephaly
disease 0.100 None 0 0
Entrez Id: 6925
Gene Symbol: TCF4
TCF4
transcription factor 4 0.464 0.846 1.00
CUI: C0221356
Disease: Brachycephaly
Brachycephaly
disease 0.100 None 0 1