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: 10084
Gene Symbol: PQBP1
PQBP1
polyglutamine binding protein 1 0.570 0.654 0.79
CUI: C0025990
Disease: Micrognathism
Micrognathism
disease 0.410 None 1.000 0 0 2018 2018
Entrez Id: 25885
Gene Symbol: POLR1A
POLR1A
RNA polymerase I subunit A 0.682 0.538 1.00
CUI: C0025990
Disease: Micrognathism
Micrognathism
disease 0.400 strong 1.000 0 0 2014 2014
Entrez Id: 3664
Gene Symbol: IRF6
IRF6
interferon regulatory factor 6 0.486 0.769 1.00
CUI: C0025990
Disease: Micrognathism
Micrognathism
disease 0.120 None 1.000 0 0 2019 2019
Entrez Id: 157680
Gene Symbol: VPS13B
VPS13B
vacuolar protein sorting 13 homolog B 0.579 0.769 2.5E-45
CUI: C0025990
Disease: Micrognathism
Micrognathism
disease 0.110 None 1.000 0 0 2018 2018
Entrez Id: 545
Gene Symbol: ATR
ATR
ATR serine/threonine kinase 0.456 0.923 3.5E-09
CUI: C0025990
Disease: Micrognathism
Micrognathism
disease 0.110 None 1.000 0 0 2012 2012
Entrez Id: 6309
Gene Symbol: SC5D
SC5D
sterol-C5-desaturase 0.641 0.577 2.6E-03
CUI: C0025990
Disease: Micrognathism
Micrognathism
disease 0.110 None 1.000 0 0 2003 2003
Entrez Id: 1302
Gene Symbol: COL11A2
COL11A2
collagen type XI alpha 2 chain 0.435 0.846 0.70
CUI: C0025990
Disease: Micrognathism
Micrognathism
disease 0.110 None 1.000 0 0 2003 2003
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
collagen type II alpha 1 chain 0.444 0.846 1.00
CUI: C0025990
Disease: Micrognathism
Micrognathism
disease 0.110 None 1.000 0 0 2003 2003
Entrez Id: 8481
Gene Symbol: OFD1
OFD1
OFD1 centriole and centriolar satellite protein 0.510 0.808 0.96
CUI: C0025990
Disease: Micrognathism
Micrognathism
disease 0.110 None 1.000 0 0 2016 2016
Entrez Id: 29980
Gene Symbol: DONSON
DONSON
downstream neighbor of SON 0.636 0.538 1.3E-07
CUI: C0025990
Disease: Micrognathism
Micrognathism
disease 0.110 None 1.000 0 0 2019 2019
Entrez Id: 3480
Gene Symbol: IGF1R
IGF1R
insulin like growth factor 1 receptor 0.399 0.885 0.97
CUI: C0025990
Disease: Micrognathism
Micrognathism
disease 0.110 None 1.000 0 0 2009 2009
Entrez Id: 25836
Gene Symbol: NIPBL
NIPBL
NIPBL cohesin loading factor 0.521 0.808 1.00
CUI: C0025990
Disease: Micrognathism
Micrognathism
disease 0.110 None 1.000 0 0 2014 2014
Entrez Id: 2316
Gene Symbol: FLNA
FLNA
filamin A 0.419 0.846 1.00
CUI: C0025990
Disease: Micrognathism
Micrognathism
disease 0.110 None 1.000 0 0 2015 2015
Entrez Id: 10269
Gene Symbol: ZMPSTE24
ZMPSTE24
zinc metallopeptidase STE24 0.517 0.731 8.9E-16
CUI: C0025990
Disease: Micrognathism
Micrognathism
disease 0.110 None 1.000 0 0 2010 2010
Entrez Id: 9968
Gene Symbol: MED12
MED12
mediator complex subunit 12 0.476 0.769 1.00
CUI: C0025990
Disease: Micrognathism
Micrognathism
disease 0.110 None 1.000 0 0 2016 2016
Entrez Id: 6885
Gene Symbol: MAP3K7
MAP3K7
mitogen-activated protein kinase kinase kinase 7 0.477 0.808 1.00
CUI: C0025990
Disease: Micrognathism
Micrognathism
disease 0.110 None 1.000 0 0 2013 2013
Entrez Id: 6899
Gene Symbol: TBX1
TBX1
T-box transcription factor 1 0.433 0.808 0.84
CUI: C0025990
Disease: Micrognathism
Micrognathism
disease 0.110 None 1.000 0 0 2018 2018
Entrez Id: 5830
Gene Symbol: PEX5
PEX5
peroxisomal biogenesis factor 5 0.561 0.731 5.6E-05
CUI: C0025990
Disease: Micrognathism
Micrognathism
disease 0.100 None 0 0
Entrez Id: 5828
Gene Symbol: PEX2
PEX2
peroxisomal biogenesis factor 2 0.582 0.654 2.6E-04
CUI: C0025990
Disease: Micrognathism
Micrognathism
disease 0.100 None 0 0
Entrez Id: 5885
Gene Symbol: RAD21
RAD21
RAD21 cohesin complex component 0.528 0.846 1.00
CUI: C0025990
Disease: Micrognathism
Micrognathism
disease 0.100 None 1.000 0 0 2019 2019
Entrez Id: 5888
Gene Symbol: RAD51
RAD51
RAD51 recombinase 0.447 0.846 2.7E-02
CUI: C0025990
Disease: Micrognathism
Micrognathism
disease 0.100 None 0 0
Entrez Id: 5889
Gene Symbol: RAD51C
RAD51C
RAD51 paralog C 0.533 0.692 6.2E-14
CUI: C0025990
Disease: Micrognathism
Micrognathism
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: C0025990
Disease: Micrognathism
Micrognathism
disease 0.100 None 0 0
Entrez Id: 5913
Gene Symbol: RAPSN
RAPSN
receptor associated protein of the synapse 0.593 0.731 1.5E-03
CUI: C0025990
Disease: Micrognathism
Micrognathism
disease 0.100 None 0 0
Entrez Id: 5915
Gene Symbol: RARB
RARB
retinoic acid receptor beta 0.478 0.846 1.00
CUI: C0025990
Disease: Micrognathism
Micrognathism
disease 0.100 None 0 0