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: 57492
Gene Symbol: ARID1B
ARID1B
AT-rich interaction domain 1B 0.503 0.846 1.00
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate
disease 0.100 None 1.000 2 1 2012 2015
Entrez Id: 6329
Gene Symbol: SCN4A
SCN4A
sodium voltage-gated channel alpha subunit 4 0.554 0.731 1.3E-02
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate
disease 0.100 None 1.000 2 2 2004 2008
Entrez Id: 5885
Gene Symbol: RAD21
RAD21
RAD21 cohesin complex component 0.528 0.846 1.00
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate
disease 0.100 None 1.000 1 1 2019 2019
Entrez Id: 51412
Gene Symbol: ACTL6B
ACTL6B
actin like 6B 0.656 0.462 2.8E-04
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate
disease 0.100 None 1.000 1 1 2019 2019
Entrez Id: 7355
Gene Symbol: SLC35A2
SLC35A2
solute carrier family 35 member A2 0.525 0.808 0.72
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate
disease 0.100 None 1.000 1 1 2019 2019
Entrez Id: 84294
Gene Symbol: UTP23
UTP23
UTP23 small subunit processome component 0.711 0.385 8.6E-02
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate
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: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate
disease 0.100 None 1.000 1 1 2017 2017
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
presenilin 1 0.469 0.846 0.97
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate
disease 0.100 None 1.000 1 1 2014 2014
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
usherin 0.579 0.692 1.6E-94
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate
disease 0.100 None 0 1
Entrez Id: 5813
Gene Symbol: PURA
PURA
purine rich element binding protein A 0.644 0.500 0.94
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate
disease 0.100 None 0 1
Entrez Id: 58538
Gene Symbol: MPP4
MPP4
membrane palmitoylated protein 4 0.792 0.308 3.4E-18
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate
disease 0.100 None 0 1
Entrez Id: 51633
Gene Symbol: OTUD6B
OTUD6B
OTU deubiquitinase 6B 0.659 0.538 1.3E-07
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate
disease 0.100 None 0 1
Entrez Id: 9757
Gene Symbol: KMT2B
KMT2B
lysine methyltransferase 2B 0.529 0.808 1.00
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate
disease 0.100 None 0 1
Entrez Id: 6598
Gene Symbol: SMARCB1
SMARCB1
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 0.434 0.846 1.00
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate
disease 0.100 None 0 1
Entrez Id: 9427
Gene Symbol: ECEL1
ECEL1
endothelin converting enzyme like 1 0.638 0.308 4.8E-13
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate
disease 0.100 None 0 1
Entrez Id: 93627
Gene Symbol: TBCK
TBCK
TBC1 domain containing kinase 0.650 0.654 2.1E-15
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate
disease 0.100 None 0 1
Entrez Id: 6872
Gene Symbol: TAF1
TAF1
TATA-box binding protein associated factor 1 0.581 0.808 1.00
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate
disease 0.100 None 0 1
Entrez Id: 7020
Gene Symbol: TFAP2A
TFAP2A
transcription factor AP-2 alpha 0.488 0.769 0.99
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate
disease 0.100 None 0 1
Entrez Id: 7046
Gene Symbol: TGFBR1
TGFBR1
transforming growth factor beta receptor 1 0.451 0.885 0.85
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate
disease 0.100 None 0 1
Entrez Id: 8701
Gene Symbol: DNAH11
DNAH11
dynein axonemal heavy chain 11 0.587 0.692 2.5E-58
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate
disease 0.100 None 0 2
Entrez Id: 745
Gene Symbol: MYRF
MYRF
myelin regulatory factor 0.584 0.731 1.00
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate
disease 0.100 None 0 1
Entrez Id: 746
Gene Symbol: TMEM258
TMEM258
transmembrane protein 258 0.644 0.654 1.9E-03
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate
disease 0.100 None 0 1
Entrez Id: 775
Gene Symbol: CACNA1C
CACNA1C
calcium voltage-gated channel subunit alpha1 C 0.510 0.846 1.00
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate
disease 0.100 None 0 1
Entrez Id: 8289
Gene Symbol: ARID1A
ARID1A
AT-rich interaction domain 1A 0.455 0.846 1.00
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate
disease 0.100 None 0 1
Entrez Id: 9772
Gene Symbol: TMEM94
TMEM94
transmembrane protein 94 0.628 0.654 2.8E-14
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate
disease 0.100 None 0 2