Source: HPO

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: 22858
Gene Symbol: CILK1
CILK1
ciliogenesis associated kinase 1 0.545 0.808 1.3E-05
CUI: C1858085
Disease: Malar flattening
Malar flattening
disease 0.100 None 0 0
Entrez Id: 83987
Gene Symbol: CCDC8
CCDC8
coiled-coil domain containing 8 0.599 0.692 0.25
CUI: C1858085
Disease: Malar flattening
Malar flattening
disease 0.100 None 0 0
Entrez Id: 147372
Gene Symbol: CCBE1
CCBE1
collagen and calcium binding EGF domains 1 0.585 0.769 1.5E-07
CUI: C1858085
Disease: Malar flattening
Malar flattening
disease 0.100 None 0 0
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1
collagen type I alpha 1 chain 0.430 0.808 1.00
CUI: C1858085
Disease: Malar flattening
Malar flattening
disease 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: C1858085
Disease: Malar flattening
Malar flattening
disease 0.100 None 0 0
Entrez Id: 1297
Gene Symbol: COL9A1
COL9A1
collagen type IX alpha 1 chain 0.566 0.731 3.1E-19
CUI: C1858085
Disease: Malar flattening
Malar flattening
disease 0.100 None 0 0
Entrez Id: 1298
Gene Symbol: COL9A2
COL9A2
collagen type IX alpha 2 chain 0.572 0.769 1.0E-08
CUI: C1858085
Disease: Malar flattening
Malar flattening
disease 0.100 None 0 0
Entrez Id: 1299
Gene Symbol: COL9A3
COL9A3
collagen type IX alpha 3 chain 0.569 0.769 3.3E-12
CUI: C1858085
Disease: Malar flattening
Malar flattening
disease 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: C1858085
Disease: Malar flattening
Malar flattening
disease 0.100 None 0 0
Entrez Id: 1302
Gene Symbol: COL11A2
COL11A2
collagen type XI alpha 2 chain 0.435 0.846 0.70
CUI: C1858085
Disease: Malar flattening
Malar flattening
disease 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: C1858085
Disease: Malar flattening
Malar flattening
disease 0.100 None 0 0
Entrez Id: 1399
Gene Symbol: CRKL
CRKL
CRK like proto-oncogene, adaptor protein 0.553 0.769 0.45
CUI: C1858085
Disease: Malar flattening
Malar flattening
disease 0.100 None 0 0
Entrez Id: 9820
Gene Symbol: CUL7
CUL7
cullin 7 0.633 0.500 2.6E-21
CUI: C1858085
Disease: Malar flattening
Malar flattening
disease 0.100 None 0 0
Entrez Id: 5447
Gene Symbol: POR
POR
cytochrome p450 oxidoreductase 0.502 0.769 3.4E-10
CUI: C1858085
Disease: Malar flattening
Malar flattening
disease 0.100 None 0 0
Entrez Id: 8642
Gene Symbol: DCHS1
DCHS1
dachsous cadherin-related 1 0.592 0.731 1.00
CUI: C1858085
Disease: Malar flattening
Malar flattening
disease 0.100 None 0 0
Entrez Id: 1723
Gene Symbol: DHODH
DHODH
dihydroorotate dehydrogenase (quinone) 0.576 0.769 3.0E-03
CUI: C1858085
Disease: Malar flattening
Malar flattening
disease 0.100 None 0 0
Entrez Id: 4921
Gene Symbol: DDR2
DDR2
discoidin domain receptor tyrosine kinase 2 0.541 0.769 0.55
CUI: C1858085
Disease: Malar flattening
Malar flattening
disease 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: C1858085
Disease: Malar flattening
Malar flattening
disease 0.100 None 0 0
Entrez Id: 1857
Gene Symbol: DVL3
DVL3
dishevelled segment polarity protein 3 0.537 0.731 0.39
CUI: C1858085
Disease: Malar flattening
Malar flattening
disease 0.100 None 0 0
Entrez Id: 1789
Gene Symbol: DNMT3B
DNMT3B
DNA methyltransferase 3 beta 0.453 0.846 0.20
CUI: C1858085
Disease: Malar flattening
Malar flattening
disease 0.100 None 0 0
Entrez Id: 5426
Gene Symbol: POLE
POLE
DNA polymerase epsilon, catalytic subunit 0.526 0.731 8.0E-27
CUI: C1858085
Disease: Malar flattening
Malar flattening
disease 0.100 None 0 0
Entrez Id: 10682
Gene Symbol: EBP
EBP
EBP cholestenol delta-isomerase 0.494 0.846 0.94
CUI: C1858085
Disease: Malar flattening
Malar flattening
disease 0.100 None 0 0
Entrez Id: 9343
Gene Symbol: EFTUD2
EFTUD2
elongation factor Tu GTP binding domain containing 2 0.647 0.462 1.00
CUI: C1858085
Disease: Malar flattening
Malar flattening
disease 0.100 None 0 0
Entrez Id: 157570
Gene Symbol: ESCO2
ESCO2
establishment of sister chromatid cohesion N-acetyltransferase 2 0.581 0.615 3.2E-07
CUI: C1858085
Disease: Malar flattening
Malar flattening
disease 0.100 None 0 0
Entrez Id: 2077
Gene Symbol: ERF
ERF
ETS2 repressor factor 0.572 0.654 0.99
CUI: C1858085
Disease: Malar flattening
Malar flattening
disease 0.100 None 0 0