Source: CLINVAR

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: 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 1 2016 2016
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 2 2012 2012
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 1 2003 2003
Entrez Id: 8621
Gene Symbol: CDK13
CDK13
cyclin dependent kinase 13 0.606 0.692 0.91
CUI: C0025990
Disease: Micrognathism
Micrognathism
disease 0.100 None 1.000 1 1 2017 2017
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 1 1 2019 2019
Entrez Id: 51053
Gene Symbol: GMNN
GMNN
geminin DNA replication inhibitor 0.554 0.808 0.11
CUI: C0025990
Disease: Micrognathism
Micrognathism
disease 0.100 None 1.000 1 2 2015 2015
Entrez Id: 25
Gene Symbol: ABL1
ABL1
ABL proto-oncogene 1, non-receptor tyrosine kinase 0.432 0.923 1.00
CUI: C0025990
Disease: Micrognathism
Micrognathism
disease 0.100 None 1.000 1 1 2017 2017
Entrez Id: 84294
Gene Symbol: UTP23
UTP23
UTP23 small subunit processome component 0.711 0.385 8.6E-02
CUI: C0025990
Disease: Micrognathism
Micrognathism
disease 0.100 None 1.000 1 1 2019 2019
Entrez Id: 2186
Gene Symbol: BPTF
BPTF
bromodomain PHD finger transcription factor 0.560 0.769 1.00
CUI: C0025990
Disease: Micrognathism
Micrognathism
disease 0.100 None 1.000 1 3 2017 2017
Entrez Id: 6857
Gene Symbol: SYT1
SYT1
synaptotagmin 1 0.412 0.846 0.60
CUI: C0025990
Disease: Micrognathism
Micrognathism
disease 0.100 None 0 1
Entrez Id: 6576
Gene Symbol: SLC25A1
SLC25A1
solute carrier family 25 member 1 0.553 0.731 5.9E-02
CUI: C0025990
Disease: Micrognathism
Micrognathism
disease 0.100 None 0 1
Entrez Id: 64207
Gene Symbol: IRF2BPL
IRF2BPL
interferon regulatory factor 2 binding protein like 0.631 0.462 0.84
CUI: C0025990
Disease: Micrognathism
Micrognathism
disease 0.100 None 0 1
Entrez Id: 171023
Gene Symbol: ASXL1
ASXL1
ASXL transcriptional regulator 1 0.482 0.808 1.3E-14
CUI: C0025990
Disease: Micrognathism
Micrognathism
disease 0.100 None 0 1
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A
sodium voltage-gated channel alpha subunit 8 0.510 0.731 1.00
CUI: C0025990
Disease: Micrognathism
Micrognathism
disease 0.100 None 0 1
Entrez Id: 6197
Gene Symbol: RPS6KA3
RPS6KA3
ribosomal protein S6 kinase A3 0.491 0.846 1.00
CUI: C0025990
Disease: Micrognathism
Micrognathism
disease 0.100 None 0 1
Entrez Id: 51132
Gene Symbol: RLIM
RLIM
ring finger protein, LIM domain interacting 0.686 0.500 0.99
CUI: C0025990
Disease: Micrognathism
Micrognathism
disease 0.100 None 0 1
Entrez Id: 7466
Gene Symbol: WFS1
WFS1
wolframin ER transmembrane glycoprotein 0.528 0.846 1.6E-38
CUI: C0025990
Disease: Micrognathism
Micrognathism
disease 0.100 None 0 1
Entrez Id: 10262
Gene Symbol: SF3B4
SF3B4
splicing factor 3b subunit 4 0.576 0.615 0.99
CUI: C0025990
Disease: Micrognathism
Micrognathism
disease 0.100 None 0 1
Entrez Id: 79728
Gene Symbol: PALB2
PALB2
partner and localizer of BRCA2 0.485 0.769 3.0E-19
CUI: C0025990
Disease: Micrognathism
Micrognathism
disease 0.100 None 0 1
Entrez Id: 79868
Gene Symbol: ALG13
ALG13
ALG13 UDP-N-acetylglucosaminyltransferase subunit 0.631 0.577 1.00
CUI: C0025990
Disease: Micrognathism
Micrognathism
disease 0.100 None 0 1
Entrez Id: 81603
Gene Symbol: TRIM8
TRIM8
tripartite motif containing 8 0.588 0.731 0.99
CUI: C0025990
Disease: Micrognathism
Micrognathism
disease 0.100 None 0 1
Entrez Id: 84162
Gene Symbol: KIAA1109
KIAA1109
KIAA1109 0.603 0.654 3.3E-21
CUI: C0025990
Disease: Micrognathism
Micrognathism
disease 0.100 None 0 1
Entrez Id: 1400
Gene Symbol: CRMP1
CRMP1
collapsin response mediator protein 1 0.525 0.808 0.99
CUI: C0025990
Disease: Micrognathism
Micrognathism
disease 0.100 None 0 1
Entrez Id: 9320
Gene Symbol: TRIP12
TRIP12
thyroid hormone receptor interactor 12 0.678 0.462 1.00
CUI: C0025990
Disease: Micrognathism
Micrognathism
disease 0.100 None 0 1
Entrez Id: 9343
Gene Symbol: EFTUD2
EFTUD2
elongation factor Tu GTP binding domain containing 2 0.647 0.462 1.00
CUI: C0025990
Disease: Micrognathism
Micrognathism
disease 0.100 None 0 1