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: 650
Gene Symbol: BMP2
BMP2
bone morphogenetic protein 2 0.432 0.846 0.99
CUI: C1854114
Disease: Short nose
Short nose
phenotype 0.100 None 0 0
Entrez Id: 9031
Gene Symbol: BAZ1B
BAZ1B
bromodomain adjacent to zinc finger domain 1B 0.530 0.731 1.00
CUI: C1854114
Disease: Short nose
Short nose
phenotype 0.100 None 0 0
Entrez Id: 701
Gene Symbol: BUB1B
BUB1B
BUB1 mitotic checkpoint serine/threonine kinase B 0.502 0.808 7.0E-10
CUI: C1854114
Disease: Short nose
Short nose
phenotype 0.100 None 0 0
Entrez Id: 124583
Gene Symbol: CANT1
CANT1
calcium activated nucleotidase 1 0.619 0.731 2.5E-06
CUI: C1854114
Disease: Short nose
Short nose
phenotype 0.100 None 0 0
Entrez Id: 8913
Gene Symbol: CACNA1G
CACNA1G
calcium voltage-gated channel subunit alpha1 G 0.590 0.577 1.00
CUI: C1854114
Disease: Short nose
Short nose
phenotype 0.100 None 0 0
Entrez Id: 8573
Gene Symbol: CASK
CASK
calcium/calmodulin dependent serine protein kinase 0.538 0.808 1.00
CUI: C1854114
Disease: Short nose
Short nose
phenotype 0.100 None 0 0
Entrez Id: 7461
Gene Symbol: CLIP2
CLIP2
CAP-Gly domain containing linker protein 2 0.529 0.808 1.00
CUI: C1854114
Disease: Short nose
Short nose
phenotype 0.100 None 0 0
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
catenin beta 1 0.303 0.885 1.00
CUI: C1854114
Disease: Short nose
Short nose
phenotype 0.100 None 0 1
Entrez Id: 10225
Gene Symbol: CD96
CD96
CD96 molecule 0.592 0.692 1.4E-11
CUI: C1854114
Disease: Short nose
Short nose
phenotype 0.100 None 0 0
Entrez Id: 50937
Gene Symbol: CDON
CDON
cell adhesion associated, oncogene regulated 0.601 0.731 2.1E-15
CUI: C1854114
Disease: Short nose
Short nose
phenotype 0.100 None 0 0
Entrez Id: 83879
Gene Symbol: CDCA7
CDCA7
cell division cycle associated 7 0.626 0.654 1.1E-02
CUI: C1854114
Disease: Short nose
Short nose
phenotype 0.100 None 0 0
Entrez Id: 9702
Gene Symbol: CEP57
CEP57
centrosomal protein 57 0.615 0.615 7.3E-02
CUI: C1854114
Disease: Short nose
Short nose
phenotype 0.100 None 0 0
Entrez Id: 22856
Gene Symbol: CHSY1
CHSY1
chondroitin sulfate synthase 1 0.612 0.615 0.71
CUI: C1854114
Disease: Short nose
Short nose
phenotype 0.100 None 0 0
Entrez Id: 10978
Gene Symbol: CLP1
CLP1
cleavage factor polyribonucleotide kinase subunit 1 0.700 0.385 0.20
CUI: C1854114
Disease: Short nose
Short nose
phenotype 0.100 None 0 0
Entrez Id: 28952
Gene Symbol: CCDC22
CCDC22
coiled-coil domain containing 22 0.595 0.692 1.00
CUI: C1854114
Disease: Short nose
Short nose
phenotype 0.100 None 0 0
Entrez Id: 55704
Gene Symbol: CCDC88A
CCDC88A
coiled-coil domain containing 88A 0.610 0.615 1.00
CUI: C1854114
Disease: Short nose
Short nose
phenotype 0.100 None 0 0
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
collagen type II alpha 1 chain 0.444 0.846 1.00
CUI: C1854114
Disease: Short nose
Short nose
phenotype 0.100 None 0 0
Entrez Id: 1301
Gene Symbol: COL11A1
COL11A1
collagen type XI alpha 1 chain 0.495 0.846 1.00
CUI: C1854114
Disease: Short nose
Short nose
phenotype 0.100 None 0 1
Entrez Id: 1302
Gene Symbol: COL11A2
COL11A2
collagen type XI alpha 2 chain 0.435 0.846 0.70
CUI: C1854114
Disease: Short nose
Short nose
phenotype 0.100 None 0 0
Entrez Id: 91949
Gene Symbol: COG7
COG7
component of oligomeric golgi complex 7 0.686 0.500 2.6E-07
CUI: C1854114
Disease: Short nose
Short nose
phenotype 0.100 None 0 0
Entrez Id: 8506
Gene Symbol: CNTNAP1
CNTNAP1
contactin associated protein 1 0.554 0.577 3.4E-05
CUI: C1854114
Disease: Short nose
Short nose
phenotype 0.100 None 1.000 1 1 2017 2017
Entrez Id: 8621
Gene Symbol: CDK13
CDK13
cyclin dependent kinase 13 0.606 0.692 0.91
CUI: C1854114
Disease: Short nose
Short nose
phenotype 0.100 None 1.000 1 1 2017 2017
Entrez Id: 1028
Gene Symbol: CDKN1C
CDKN1C
cyclin dependent kinase inhibitor 1C 0.456 0.846 0.82
CUI: C1854114
Disease: Short nose
Short nose
phenotype 0.100 None 0 0
Entrez Id: 10522
Gene Symbol: DEAF1
DEAF1
DEAF1 transcription factor 0.575 0.615 3.4E-04
CUI: C1854114
Disease: Short nose
Short nose
phenotype 0.100 None 0 0
Entrez Id: 28960
Gene Symbol: DCPS
DCPS
decapping enzyme, scavenger 0.612 0.538 2.5E-07
CUI: C1854114
Disease: Short nose
Short nose
phenotype 0.100 None 0 0