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: 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: 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: 166378
Gene Symbol: SPATA5
SPATA5
spermatogenesis associated 5 0.670 0.654 9.1E-20
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate
disease 0.100 None 0 1
Entrez Id: 124454
Gene Symbol: EARS2
EARS2
glutamyl-tRNA synthetase 2, mitochondrial 0.666 0.538 1.1E-08
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: 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: 154881
Gene Symbol: KCTD7
KCTD7
potassium channel tetramerization domain containing 7 0.650 0.423 6.3E-04
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate
disease 0.100 None 0 2
Entrez Id: 23287
Gene Symbol: AGTPBP1
AGTPBP1
ATP/GTP binding protein 1 0.650 0.538 0.42
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate
disease 0.100 None 0 2
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: 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: 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: 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: 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
Entrez Id: 285175
Gene Symbol: UNC80
UNC80
unc-80 homolog, NALCN channel complex subunit 0.626 0.462 5.2E-02
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate
disease 0.100 None 0 1
Entrez Id: 55252
Gene Symbol: ASXL2
ASXL2
ASXL transcriptional regulator 2 0.617 0.692 1.00
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate
disease 0.100 None 0 1
Entrez Id: 23126
Gene Symbol: POGZ
POGZ
pogo transposable element derived with ZNF domain 0.599 0.577 1.00
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: 55975
Gene Symbol: KLHL7
KLHL7
kelch like family member 7 0.581 0.731 4.6E-05
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: 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
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: 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: 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: 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