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: 8289
Gene Symbol: ARID1A
ARID1A
AT-rich interaction domain 1A 0.455 0.846 1.00
CUI: C0239234
Disease: Low set ears
Low set ears
disease 0.110 None 1.000 0 1 2016 2016
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
protein tyrosine phosphatase non-receptor type 11 0.385 0.923 1.00
CUI: C0239234
Disease: Low set ears
Low set ears
disease 0.100 None 1.000 6 5 2001 2009
Entrez Id: 6329
Gene Symbol: SCN4A
SCN4A
sodium voltage-gated channel alpha subunit 4 0.554 0.731 1.3E-02
CUI: C0239234
Disease: Low set ears
Low set ears
disease 0.100 None 1.000 2 2 2004 2008
Entrez Id: 7020
Gene Symbol: TFAP2A
TFAP2A
transcription factor AP-2 alpha 0.488 0.769 0.99
CUI: C0239234
Disease: Low set ears
Low set ears
disease 0.100 None 1.000 1 2 2015 2015
Entrez Id: 2475
Gene Symbol: MTOR
MTOR
mechanistic target of rapamycin kinase 0.343 0.885 1.00
CUI: C0239234
Disease: Low set ears
Low set ears
disease 0.100 None 1.000 1 1 2016 2016
Entrez Id: 8216
Gene Symbol: LZTR1
LZTR1
leucine zipper like transcription regulator 1 0.547 0.808 1.0E-92
CUI: C0239234
Disease: Low set ears
Low set ears
disease 0.100 None 1.000 1 1 2018 2018
Entrez Id: 8506
Gene Symbol: CNTNAP1
CNTNAP1
contactin associated protein 1 0.554 0.577 3.4E-05
CUI: C0239234
Disease: Low set ears
Low set ears
disease 0.100 None 1.000 1 1 2017 2017
Entrez Id: 8621
Gene Symbol: CDK13
CDK13
cyclin dependent kinase 13 0.606 0.692 0.91
CUI: C0239234
Disease: Low set ears
Low set ears
disease 0.100 None 1.000 1 1 2017 2017
Entrez Id: 8942
Gene Symbol: KYNU
KYNU
kynureninase 0.617 0.692 4.2E-18
CUI: C0239234
Disease: Low set ears
Low set ears
disease 0.100 None 1.000 1 1 2017 2017
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
sodium voltage-gated channel alpha subunit 1 0.477 0.808 1.00
CUI: C0239234
Disease: Low set ears
Low set ears
disease 0.100 None 0 1
Entrez Id: 6197
Gene Symbol: RPS6KA3
RPS6KA3
ribosomal protein S6 kinase A3 0.491 0.846 1.00
CUI: C0239234
Disease: Low set ears
Low set ears
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: C0239234
Disease: Low set ears
Low set ears
disease 0.100 None 0 1
Entrez Id: 673
Gene Symbol: BRAF
BRAF
B-Raf proto-oncogene, serine/threonine kinase 0.319 0.846 1.00
CUI: C0239234
Disease: Low set ears
Low set ears
disease 0.100 None 0 1
Entrez Id: 6664
Gene Symbol: SOX11
SOX11
SRY-box transcription factor 11 0.494 0.808 0.86
CUI: C0239234
Disease: Low set ears
Low set ears
disease 0.100 None 0 1
Entrez Id: 6535
Gene Symbol: SLC6A8
SLC6A8
solute carrier family 6 member 8 0.476 0.846 1.00
CUI: C0239234
Disease: Low set ears
Low set ears
disease 0.100 None 0 1
Entrez Id: 64324
Gene Symbol: NSD1
NSD1
nuclear receptor binding SET domain protein 1 0.505 0.769 1.00
CUI: C0239234
Disease: Low set ears
Low set ears
disease 0.100 None 0 1
Entrez Id: 9990
Gene Symbol: SLC12A6
SLC12A6
solute carrier family 12 member 6 0.603 0.500 1.1E-02
CUI: C0239234
Disease: Low set ears
Low set ears
disease 0.100 None 0 1
Entrez Id: 6909
Gene Symbol: TBX2
TBX2
T-box transcription factor 2 0.544 0.769 0.99
CUI: C0239234
Disease: Low set ears
Low set ears
disease 0.100 None 0 1
Entrez Id: 7703
Gene Symbol: PCGF2
PCGF2
polycomb group ring finger 2 0.579 0.615 0.86
CUI: C0239234
Disease: Low set ears
Low set ears
disease 0.100 None 0 1
Entrez Id: 9343
Gene Symbol: EFTUD2
EFTUD2
elongation factor Tu GTP binding domain containing 2 0.647 0.462 1.00
CUI: C0239234
Disease: Low set ears
Low set ears
disease 0.100 None 0 1
Entrez Id: 93210
Gene Symbol: PGAP3
PGAP3
post-GPI attachment to proteins phospholipase 3 0.628 0.731 1.9E-03
CUI: C0239234
Disease: Low set ears
Low set ears
disease 0.100 None 0 1
Entrez Id: 8398
Gene Symbol: PLA2G6
PLA2G6
phospholipase A2 group VI 0.476 0.846 2.5E-10
CUI: C0239234
Disease: Low set ears
Low set ears
disease 0.100 None 0 1
Entrez Id: 7021
Gene Symbol: TFAP2B
TFAP2B
transcription factor AP-2 beta 0.570 0.769 0.99
CUI: C0239234
Disease: Low set ears
Low set ears
disease 0.100 None 0 1
Entrez Id: 79813
Gene Symbol: EHMT1
EHMT1
euchromatic histone lysine methyltransferase 1 0.460 0.808 1.00
CUI: C0239234
Disease: Low set ears
Low set ears
disease 0.100 None 0 1
Entrez Id: 79770
Gene Symbol: TXNDC15
TXNDC15
thioredoxin domain containing 15 0.736 0.615 9.6E-03
CUI: C0239234
Disease: Low set ears
Low set ears
disease 0.100 None 0 1