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: 5447
Gene Symbol: POR
POR
cytochrome p450 oxidoreductase 0.502 0.769 3.4E-10
CUI: C0221356
Disease: Brachycephaly
Brachycephaly
disease 0.100 None 0 0
Entrez Id: 6492
Gene Symbol: SIM1
SIM1
SIM bHLH transcription factor 1 0.626 0.654 1.00
CUI: C0221356
Disease: Brachycephaly
Brachycephaly
disease 0.100 None 0 0
Entrez Id: 6497
Gene Symbol: SKI
SKI
SKI proto-oncogene 0.503 0.808 1.00
CUI: C0221356
Disease: Brachycephaly
Brachycephaly
disease 0.100 None 0 0
Entrez Id: 54187
Gene Symbol: NANS
NANS
N-acetylneuraminate synthase 0.545 0.692
CUI: C0221356
Disease: Brachycephaly
Brachycephaly
disease 0.100 None 0 0
Entrez Id: 538
Gene Symbol: ATP7A
ATP7A
ATPase copper transporting alpha 0.494 0.769 1.00
CUI: C0221356
Disease: Brachycephaly
Brachycephaly
disease 0.100 None 0 0
Entrez Id: 65109
Gene Symbol: UPF3B
UPF3B
UPF3B regulator of nonsense mediated mRNA decay 0.619 0.615 0.98
CUI: C0221356
Disease: Brachycephaly
Brachycephaly
disease 0.100 None 0 0
Entrez Id: 51715
Gene Symbol: RAB23
RAB23
RAB23, member RAS oncogene family 0.541 0.654 5.6E-03
CUI: C0221356
Disease: Brachycephaly
Brachycephaly
disease 0.100 None 0 0
Entrez Id: 6611
Gene Symbol: SMS
SMS
spermine synthase 0.491 0.846 0.97
CUI: C0221356
Disease: Brachycephaly
Brachycephaly
disease 0.100 None 0 0
Entrez Id: 6654
Gene Symbol: SOS1
SOS1
SOS Ras/Rac guanine nucleotide exchange factor 1 0.485 0.808 1.00
CUI: C0221356
Disease: Brachycephaly
Brachycephaly
disease 0.100 None 0 1
Entrez Id: 5885
Gene Symbol: RAD21
RAD21
RAD21 cohesin complex component 0.528 0.846 1.00
CUI: C0221356
Disease: Brachycephaly
Brachycephaly
disease 0.100 None 0 0
Entrez Id: 5832
Gene Symbol: ALDH18A1
ALDH18A1
aldehyde dehydrogenase 18 family member A1 0.551 0.769 8.1E-04
CUI: C0221356
Disease: Brachycephaly
Brachycephaly
disease 0.100 None 0 0
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: 5580
Gene Symbol: PRKCD
PRKCD
protein kinase C delta 0.480 0.846 1.00
CUI: C0221356
Disease: Brachycephaly
Brachycephaly
disease 0.100 None 0 0
Entrez Id: 56603
Gene Symbol: CYP26B1
CYP26B1
cytochrome P450 family 26 subfamily B member 1 0.666 0.500 0.98
CUI: C0221356
Disease: Brachycephaly
Brachycephaly
disease 0.100 None 0 0
Entrez Id: 57003
Gene Symbol: CCDC47
CCDC47
coiled-coil domain containing 47 0.678 0.462 6.1E-08
CUI: C0221356
Disease: Brachycephaly
Brachycephaly
disease 0.100 None 0 0
Entrez Id: 55777
Gene Symbol: MBD5
MBD5
methyl-CpG binding domain protein 5 0.581 0.808 1.00
CUI: C0221356
Disease: Brachycephaly
Brachycephaly
disease 0.100 None 0 0
Entrez Id: 57215
Gene Symbol: THAP11
THAP11
THAP domain containing 11 0.769 0.346 0.83
CUI: C0221356
Disease: Brachycephaly
Brachycephaly
disease 0.100 None 0 1
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: 5745
Gene Symbol: PTH1R
PTH1R
parathyroid hormone 1 receptor 0.544 0.731 0.57
CUI: C0221356
Disease: Brachycephaly
Brachycephaly
disease 0.100 None 0 0
Entrez Id: 57465
Gene Symbol: TBC1D24
TBC1D24
TBC1 domain family member 24 0.530 0.808 1.3E-08
CUI: C0221356
Disease: Brachycephaly
Brachycephaly
disease 0.100 None 0 0
Entrez Id: 55768
Gene Symbol: NGLY1
NGLY1
N-glycanase 1 0.601 0.654 1.5E-13
CUI: C0221356
Disease: Brachycephaly
Brachycephaly
disease 0.100 None 0 0
Entrez Id: 54499
Gene Symbol: TMCO1
TMCO1
transmembrane and coiled-coil domains 1 0.588 0.654 9.4E-10
CUI: C0221356
Disease: Brachycephaly
Brachycephaly
disease 0.100 None 0 0
Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B
AT-rich interaction domain 1B 0.503 0.846 1.00
CUI: C0221356
Disease: Brachycephaly
Brachycephaly
disease 0.100 None 0 2
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: 55650
Gene Symbol: PIGV
PIGV
phosphatidylinositol glycan anchor biosynthesis class V 0.636 0.615 1.5E-08
CUI: C0221356
Disease: Brachycephaly
Brachycephaly
disease 0.100 None 0 0