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: 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: 57688
Gene Symbol: ZSWIM6
ZSWIM6
zinc finger SWIM-type containing 6 0.626 0.577 1.00
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: 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: 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: 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: 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: 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: 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: 55869
Gene Symbol: HDAC8
HDAC8
histone deacetylase 8 0.511 0.885 0.98
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: 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: 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: 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: 63976
Gene Symbol: PRDM16
PRDM16
PR/SET domain 16 0.522 0.808 1.00
CUI: C0221356
Disease: Brachycephaly
Brachycephaly
disease 0.100 None 0 0
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A
sodium voltage-gated channel alpha subunit 8 0.510 0.731 1.00
CUI: C0221356
Disease: Brachycephaly
Brachycephaly
disease 0.100 None 0 1
Entrez Id: 60681
Gene Symbol: FKBP10
FKBP10
FKBP prolyl isomerase 10 0.606 0.538 2.4E-06
CUI: C0221356
Disease: Brachycephaly
Brachycephaly
disease 0.100 None 0 0
Entrez Id: 60529
Gene Symbol: ALX4
ALX4
ALX homeobox 4 0.560 0.692 0.36
CUI: C0221356
Disease: Brachycephaly
Brachycephaly
disease 0.400 None 0 0
Entrez Id: 6023
Gene Symbol: RMRP
RMRP
RNA component of mitochondrial RNA processing endoribonuclease 0.519 0.731
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: 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: 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: 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: 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: 51684
Gene Symbol: SUFU
SUFU
SUFU negative regulator of hedgehog signaling 0.493 0.769 1.00
CUI: C0221356
Disease: Brachycephaly
Brachycephaly
disease 0.100 None 0 0