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: 1499
Gene Symbol: CTNNB1
CTNNB1
catenin beta 1 0.303 0.885 1.00
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate
disease 0.100 None 0 1
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
fibroblast growth factor receptor 2 0.380 0.808 1.00
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate
disease 0.100 None 0 1
Entrez Id: 4297
Gene Symbol: KMT2A
KMT2A
lysine methyltransferase 2A 0.410 0.885 1.00
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate
disease 0.100 None 0 2
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
fibrillin 1 0.417 0.846 1.00
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate
disease 0.100 None 0 12
Entrez Id: 1387
Gene Symbol: CREBBP
CREBBP
CREB binding protein 0.428 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: 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: 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: 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: 171023
Gene Symbol: ASXL1
ASXL1
ASXL transcriptional regulator 1 0.482 0.808 1.3E-14
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate
disease 0.100 None 0 2
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
potassium voltage-gated channel subfamily Q member 1 0.485 0.769 4.5E-08
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: 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: 2201
Gene Symbol: FBN2
FBN2
fibrillin 2 0.505 0.808 1.00
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: 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: 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: 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: 3190
Gene Symbol: HNRNPK
HNRNPK
heterogeneous nuclear ribonucleoprotein K 0.539 0.846 1.00
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate
disease 0.100 None 0 1
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: 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: 54551
Gene Symbol: MAGEL2
MAGEL2
MAGE family member L2 0.560 0.654 0.98
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate
disease 0.100 None 0 1
Entrez Id: 4534
Gene Symbol: MTM1
MTM1
myotubularin 1 0.573 0.731 1.00
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate
disease 0.100 None 0 1
Entrez Id: 57190
Gene Symbol: SELENON
SELENON
selenoprotein N 0.575 0.692 9.8E-10
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate
disease 0.100 None 0 3
Entrez Id: 5351
Gene Symbol: PLOD1
PLOD1
procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 0.579 0.731 1.5E-15
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate
disease 0.100 None 0 1