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: 1280
Gene Symbol: COL2A1
COL2A1
collagen type II alpha 1 chain 0.474 0.724 1.00
CUI: C0025990
Disease: Micrognathism
Micrognathism
disease 0.110 1.000 0 0 2003 2003
Entrez Id: 2316
Gene Symbol: FLNA
FLNA
filamin A 0.456 0.793 1.00
CUI: C0025990
Disease: Micrognathism
Micrognathism
disease 0.110 1.000 0 0 2016 2016
Entrez Id: 9968
Gene Symbol: MED12
MED12
mediator complex subunit 12 0.528 0.655 1.00
CUI: C0025990
Disease: Micrognathism
Micrognathism
disease 0.110 1.000 0 0 2017 2017
Entrez Id: 545
Gene Symbol: ATR
ATR
ATR serine/threonine kinase 0.486 0.759 1.7E-08
CUI: C0025990
Disease: Micrognathism
Micrognathism
disease 0.110 1.000 0 0 2013 2013
Entrez Id: 25836
Gene Symbol: NIPBL
NIPBL
NIPBL, cohesin loading factor 0.557 0.690 1.00
CUI: C0025990
Disease: Micrognathism
Micrognathism
disease 0.110 1.000 0 0 2016 2016
Entrez Id: 1302
Gene Symbol: COL11A2
COL11A2
collagen type XI alpha 2 chain 0.478 0.690 0.42
CUI: C0025990
Disease: Micrognathism
Micrognathism
disease 0.110 1.000 0 0 2003 2003
Entrez Id: 23314
Gene Symbol: SATB2
SATB2
SATB homeobox 2 0.588 0.517 1.00
CUI: C0025990
Disease: Micrognathism
Micrognathism
disease 0.110 1.000 0 0 2014 2014
Entrez Id: 10269
Gene Symbol: ZMPSTE24
ZMPSTE24
zinc metallopeptidase STE24 0.527 0.690 1.4E-15
CUI: C0025990
Disease: Micrognathism
Micrognathism
disease 0.110 1.000 0 0 2011 2011
Entrez Id: 6309
Gene Symbol: SC5D
SC5D
sterol-C5-desaturase 0.630 0.517 2.8E-03
CUI: C0025990
Disease: Micrognathism
Micrognathism
disease 0.110 1.000 0 0 2004 2004
Entrez Id: 25885
Gene Symbol: POLR1A
POLR1A
RNA polymerase I subunit A 0.752 0.379 1.00
CUI: C0025990
Disease: Micrognathism
Micrognathism
disease 0.100 0 0
Entrez Id: 23322
Gene Symbol: RPGRIP1L
RPGRIP1L
RPGRIP1 like 0.569 0.655 6.5E-31
CUI: C0025990
Disease: Micrognathism
Micrognathism
disease 0.100 0 0
Entrez Id: 23327
Gene Symbol: NEDD4L
NEDD4L
neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase 0.619 0.655 1.00
CUI: C0025990
Disease: Micrognathism
Micrognathism
disease 0.100 0 0
Entrez Id: 23141
Gene Symbol: ANKLE2
ANKLE2
ankyrin repeat and LEM domain containing 2 0.713 0.379 1.4E-10
CUI: C0025990
Disease: Micrognathism
Micrognathism
disease 0.100 0 0
Entrez Id: 23096
Gene Symbol: IQSEC2
IQSEC2
IQ motif and Sec7 domain 2 0.619 0.517 1.00
CUI: C0025990
Disease: Micrognathism
Micrognathism
disease 0.100 0 0
Entrez Id: 22995
Gene Symbol: CEP152
CEP152
centrosomal protein 152 0.667 0.379 2.8E-27
CUI: C0025990
Disease: Micrognathism
Micrognathism
disease 0.100 0 0
Entrez Id: 22931
Gene Symbol: RAB18
RAB18
RAB18, member RAS oncogene family 0.586 0.552 0.88
CUI: C0025990
Disease: Micrognathism
Micrognathism
disease 0.100 0 0
Entrez Id: 22930
Gene Symbol: RAB3GAP1
RAB3GAP1
RAB3 GTPase activating protein catalytic subunit 1 0.570 0.655 7.8E-08
CUI: C0025990
Disease: Micrognathism
Micrognathism
disease 0.100 0 0
Entrez Id: 10293
Gene Symbol: TRAIP
TRAIP
TRAF interacting protein 0.663 0.517 8.9E-06
CUI: C0025990
Disease: Micrognathism
Micrognathism
disease 0.100 0 0
Entrez Id: 10436
Gene Symbol: EMG1
EMG1
EMG1, N1-specific pseudouridine methyltransferase 0.743 0.517 1.8E-05
CUI: C0025990
Disease: Micrognathism
Micrognathism
disease 0.100 0 0
Entrez Id: 10472
Gene Symbol: ZBTB18
ZBTB18
zinc finger and BTB domain containing 18 0.611 0.345 1.00
CUI: C0025990
Disease: Micrognathism
Micrognathism
disease 0.100 0 0
Entrez Id: 10522
Gene Symbol: DEAF1
DEAF1
DEAF1, transcription factor 0.600 0.552 1.5E-03
CUI: C0025990
Disease: Micrognathism
Micrognathism
disease 0.100 0 0
Entrez Id: 10733
Gene Symbol: PLK4
PLK4
polo like kinase 4 0.594 0.517 5.9E-06
CUI: C0025990
Disease: Micrognathism
Micrognathism
disease 0.100 0 0
Entrez Id: 10743
Gene Symbol: RAI1
RAI1
retinoic acid induced 1 0.558 0.621 1.00
CUI: C0025990
Disease: Micrognathism
Micrognathism
disease 0.100 0 0
Entrez Id: 10815
Gene Symbol: CPLX1
CPLX1
complexin 1 0.600 0.517 0.82
CUI: C0025990
Disease: Micrognathism
Micrognathism
disease 0.100 0 0
Entrez Id: 10907
Gene Symbol: TXNL4A
TXNL4A
thioredoxin like 4A 0.727 0.310 7.3E-05
CUI: C0025990
Disease: Micrognathism
Micrognathism
disease 0.100 0 0