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: 6299
Gene Symbol: SALL1
SALL1
spalt like transcription factor 1 0.539 0.808 1.00
CUI: C0152423
Disease: Congenital small ears
Congenital small ears
disease 0.400 strong 1.000 1 0 1999 1999
Entrez Id: 6949
Gene Symbol: TCOF1
TCOF1
treacle ribosome biogenesis factor 1 0.550 0.808 0.95
CUI: C0152423
Disease: Congenital small ears
Congenital small ears
disease 0.400 strong 1.000 1 0 1998 1998
Entrez Id: 8085
Gene Symbol: KMT2D
KMT2D
lysine methyltransferase 2D 0.465 0.808 1.00
CUI: C0152423
Disease: Congenital small ears
Congenital small ears
disease 0.300 strong 1.000 1 0 1997 1997
Entrez Id: 100151683
Gene Symbol: RNU4ATAC
RNU4ATAC
RNA, U4atac small nuclear (U12-dependent splicing) 0.556 0.808
CUI: C0152423
Disease: Congenital small ears
Congenital small ears
disease 0.100 None 0 0
Entrez Id: 171023
Gene Symbol: ASXL1
ASXL1
ASXL transcriptional regulator 1 0.482 0.808 1.3E-14
CUI: C0152423
Disease: Congenital small ears
Congenital small ears
disease 0.100 None 0 1
Entrez Id: 175
Gene Symbol: AGA
AGA
aspartylglucosaminidase 0.570 0.808 4.3E-06
CUI: C0152423
Disease: Congenital small ears
Congenital small ears
disease 0.100 None 0 0
Entrez Id: 23394
Gene Symbol: ADNP
ADNP
activity dependent neuroprotector homeobox 0.561 0.808 1.00
CUI: C0152423
Disease: Congenital small ears
Congenital small ears
disease 0.100 None 0 0
Entrez Id: 2623
Gene Symbol: GATA1
GATA1
GATA binding protein 1 0.483 0.808 0.95
CUI: C0152423
Disease: Congenital small ears
Congenital small ears
disease 0.100 None 0 0
Entrez Id: 2629
Gene Symbol: GBA
GBA
glucosylceramidase beta 0.500 0.808 1.4E-06
CUI: C0152423
Disease: Congenital small ears
Congenital small ears
disease 0.100 None 0 0
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
SMAD family member 4 0.401 0.808 1.00
CUI: C0152423
Disease: Congenital small ears
Congenital small ears
disease 0.100 None 0 0
Entrez Id: 5058
Gene Symbol: PAK1
PAK1
p21 (RAC1) activated kinase 1 0.494 0.808 1.3E-03
CUI: C0152423
Disease: Congenital small ears
Congenital small ears
disease 0.100 None 0 0
Entrez Id: 5116
Gene Symbol: PCNT
PCNT
pericentrin 0.564 0.808 4.0E-58
CUI: C0152423
Disease: Congenital small ears
Congenital small ears
disease 0.100 None 0 0
Entrez Id: 5339
Gene Symbol: PLEC
PLEC
plectin 0.523 0.808 8.3E-12
CUI: C0152423
Disease: Congenital small ears
Congenital small ears
disease 0.100 None 0 0
Entrez Id: 546
Gene Symbol: ATRX
ATRX
ATRX chromatin remodeler 0.452 0.808 1.00
CUI: C0152423
Disease: Congenital small ears
Congenital small ears
disease 0.100 None 0 0
Entrez Id: 55777
Gene Symbol: MBD5
MBD5
methyl-CpG binding domain protein 5 0.581 0.808 1.00
CUI: C0152423
Disease: Congenital small ears
Congenital small ears
disease 0.100 None 0 0
Entrez Id: 5718
Gene Symbol: PSMD12
PSMD12
proteasome 26S subunit, non-ATPase 12 0.578 0.808 1.00
CUI: C0152423
Disease: Congenital small ears
Congenital small ears
disease 0.100 None 0 0
Entrez Id: 63976
Gene Symbol: PRDM16
PRDM16
PR/SET domain 16 0.522 0.808 1.00
CUI: C0152423
Disease: Congenital small ears
Congenital small ears
disease 0.100 None 0 0
Entrez Id: 6497
Gene Symbol: SKI
SKI
SKI proto-oncogene 0.503 0.808 1.00
CUI: C0152423
Disease: Congenital small ears
Congenital small ears
disease 0.100 None 0 0
Entrez Id: 7473
Gene Symbol: WNT3
WNT3
Wnt family member 3 0.536 0.808 0.88
CUI: C0152423
Disease: Congenital small ears
Congenital small ears
disease 0.100 None 0 0
Entrez Id: 79633
Gene Symbol: FAT4
FAT4
FAT atypical cadherin 4 0.539 0.808 1.00
CUI: C0152423
Disease: Congenital small ears
Congenital small ears
disease 0.100 None 0 0
Entrez Id: 1723
Gene Symbol: DHODH
DHODH
dihydroorotate dehydrogenase (quinone) 0.576 0.769 3.0E-03
CUI: C0152423
Disease: Congenital small ears
Congenital small ears
disease 0.400 strong 1.000 1 0 2011 2011
Entrez Id: 23426
Gene Symbol: GRIP1
GRIP1
glutamate receptor interacting protein 1 0.581 0.769 0.51
CUI: C0152423
Disease: Congenital small ears
Congenital small ears
disease 0.300 strong 1.000 1 0 2006 2006
Entrez Id: 3198
Gene Symbol: HOXA1
HOXA1
homeobox A1 0.575 0.769 0.29
CUI: C0152423
Disease: Congenital small ears
Congenital small ears
disease 0.010 None 1.000 1 0 2015 2015
Entrez Id: 574411
Gene Symbol: MIR451A
MIR451A
microRNA 451a 0.505 0.769
CUI: C0152423
Disease: Congenital small ears
Congenital small ears
disease 0.010 None 1.000 1 0 2015 2015
Entrez Id: 7020
Gene Symbol: TFAP2A
TFAP2A
transcription factor AP-2 alpha 0.488 0.769 0.99
CUI: C0152423
Disease: Congenital small ears
Congenital small ears
disease 0.400 strong 1.000 1 0 1996 1996