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: 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: 2121
Gene Symbol: EVC
EVC
EvC ciliary complex subunit 1 0.587 0.577 3.5E-25
CUI: C0025990
Disease: Micrognathism
Micrognathism
disease 0.100 None 0 2
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: 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: 5189
Gene Symbol: PEX1
PEX1
peroxisomal biogenesis factor 1 0.538 0.769 1.1E-14
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: 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: 79053
Gene Symbol: ALG8
ALG8
ALG8 alpha-1,3-glucosyltransferase 0.659 0.577 1.2E-08
CUI: C0025990
Disease: Micrognathism
Micrognathism
disease 0.100 None 0 1
Entrez Id: 56623
Gene Symbol: INPP5E
INPP5E
inositol polyphosphate-5-phosphatase E 0.561 0.615 3.1E-03
CUI: C0025990
Disease: Micrognathism
Micrognathism
disease 0.100 None 0 1
Entrez Id: 1123
Gene Symbol: CHN1
CHN1
chimerin 1 0.573 0.615 3.1E-02
CUI: C0025990
Disease: Micrognathism
Micrognathism
disease 0.100 None 0 1
Entrez Id: 285175
Gene Symbol: UNC80
UNC80
unc-80 homolog, NALCN channel complex subunit 0.626 0.462 5.2E-02
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: 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: 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: 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: 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: 4613
Gene Symbol: MYCN
MYCN
MYCN proto-oncogene, bHLH transcription factor 0.454 0.808 0.89
CUI: C0025990
Disease: Micrognathism
Micrognathism
disease 0.100 None 0 1
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
methyl-CpG binding protein 2 0.414 0.846 0.89
CUI: C0025990
Disease: Micrognathism
Micrognathism
disease 0.100 None 0 1
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: 55670
Gene Symbol: PEX26
PEX26
peroxisomal biogenesis factor 26 0.584 0.615 0.93
CUI: C0025990
Disease: Micrognathism
Micrognathism
disease 0.100 None 0 1
Entrez Id: 23299
Gene Symbol: BICD2
BICD2
BICD cargo adaptor 2 0.615 0.731 0.98
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: 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: 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: 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