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: 2706
Gene Symbol: GJB2
GJB2 		gap junction protein beta 2 0.441 0.846 6.6E-16
CUI: C0239234
Disease: Low set ears
Low set ears 		disease 0.100 None 0 1
Entrez Id: 100151683
Gene Symbol: RNU4ATAC
RNU4ATAC 		RNA, U4atac small nuclear (U12-dependent splicing) 0.556 0.808
CUI: C0239234
Disease: Low set ears
Low set ears 		disease 0.100 None 0 2
Entrez Id: 10075
Gene Symbol: HUWE1
HUWE1 		HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 0.534 0.769 1.00
CUI: C0239234
Disease: Low set ears
Low set ears 		disease 0.100 None 0 2
Entrez Id: 23332
Gene Symbol: CLASP1
CLASP1 		cytoplasmic linker associated protein 1 0.751 0.500 1.00
CUI: C0239234
Disease: Low set ears
Low set ears 		disease 0.100 None 0 2
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2 		fibroblast growth factor receptor 2 0.380 0.808 1.00
CUI: C0239234
Disease: Low set ears
Low set ears 		disease 0.100 None 0 2
Entrez Id: 2121
Gene Symbol: EVC
EVC 		EvC ciliary complex subunit 1 0.587 0.577 3.5E-25
CUI: C0239234
Disease: Low set ears
Low set ears 		disease 0.100 None 0 2
Entrez Id: 171023
Gene Symbol: ASXL1
ASXL1 		ASXL transcriptional regulator 1 0.482 0.808 1.3E-14
CUI: C0239234
Disease: Low set ears
Low set ears 		disease 0.100 None 0 1
Entrez Id: 1654
Gene Symbol: DDX3X
DDX3X 		DEAD-box helicase 3 X-linked 0.537 0.769 1.00
CUI: C0239234
Disease: Low set ears
Low set ears 		disease 0.100 None 0 1
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1 		catenin beta 1 0.303 0.885 1.00
CUI: C0239234
Disease: Low set ears
Low set ears 		disease 0.100 None 0 1
Entrez Id: 101929680
Gene Symbol: SCN1A-AS1
SCN1A-AS1 		SCN1A and SCN9A antisense RNA 1 0.636 0.346
CUI: C0239234
Disease: Low set ears
Low set ears 		disease 0.100 None 0 1
Entrez Id: 27086
Gene Symbol: FOXP1
FOXP1 		forkhead box P1 0.460 0.808 1.00
CUI: C0239234
Disease: Low set ears
Low set ears 		disease 0.100 None 0 1
Entrez Id: 29123
Gene Symbol: ANKRD11
ANKRD11 		ankyrin repeat domain 11 0.556 0.808 1.00
CUI: C0239234
Disease: Low set ears
Low set ears 		disease 0.100 None 0 1
Entrez Id: 3020
Gene Symbol: H3-3A
H3-3A 		H3.3 histone A 0.559 0.692 0.12
CUI: C0239234
Disease: Low set ears
Low set ears 		disease 0.100 None 0 1
Entrez Id: 5373
Gene Symbol: PMM2
PMM2 		phosphomannomutase 2 0.535 0.769 1.4E-17
CUI: C0239234
Disease: Low set ears
Low set ears 		disease 0.100 None 0 2
Entrez Id: 5015
Gene Symbol: OTX2
OTX2 		orthodenticle homeobox 2 0.514 0.808 0.92
CUI: C0239234
Disease: Low set ears
Low set ears 		disease 0.100 None 0 1
Entrez Id: 4882
Gene Symbol: NPR2
NPR2 		natriuretic peptide receptor 2 0.573 0.615 4.2E-05
CUI: C0239234
Disease: Low set ears
Low set ears 		disease 0.100 None 0 1
Entrez Id: 4508
Gene Symbol: ATP6
ATP6 		ATP synthase F0 subunit 6 0.541 0.731
CUI: C0239234
Disease: Low set ears
Low set ears 		disease 0.100 None 0 1
Entrez Id: 4297
Gene Symbol: KMT2A
KMT2A 		lysine methyltransferase 2A 0.410 0.885 1.00
CUI: C0239234
Disease: Low set ears
Low set ears 		disease 0.100 None 0 1
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		methyl-CpG binding protein 2 0.414 0.846 0.89
CUI: C0239234
Disease: Low set ears
Low set ears 		disease 0.100 None 0 1
Entrez Id: 3339
Gene Symbol: HSPG2
HSPG2 		heparan sulfate proteoglycan 2 0.438 0.885 1.0E-19
CUI: C0239234
Disease: Low set ears
Low set ears 		disease 0.100 None 0 1
Entrez Id: 3190
Gene Symbol: HNRNPK
HNRNPK 		heterogeneous nuclear ribonucleoprotein K 0.539 0.846 1.00
CUI: C0239234
Disease: Low set ears
Low set ears 		disease 0.100 None 0 1
Entrez Id: 1400
Gene Symbol: CRMP1
CRMP1 		collapsin response mediator protein 1 0.525 0.808 0.99
CUI: C0239234
Disease: Low set ears
Low set ears 		disease 0.100 None 0 1
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