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: 79053
Gene Symbol: ALG8
ALG8 		ALG8 alpha-1,3-glucosyltransferase 0.659 0.577 1.2E-08
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: 57479
Gene Symbol: PRR12
PRR12 		proline rich 12 0.716 0.385 1.00
CUI: C0239234
Disease: Low set ears
Low set ears 		disease 0.100 None 0 1
Entrez Id: 57459
Gene Symbol: GATAD2B
GATAD2B 		GATA zinc finger domain containing 2B 0.593 0.654 1.00
CUI: C0239234
Disease: Low set ears
Low set ears 		disease 0.100 None 0 1
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1 		patched 1 0.398 0.885 1.00
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: 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: 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: 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: 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: 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: 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: 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: 55636
Gene Symbol: CHD7
CHD7 		chromodomain helicase DNA binding protein 7 0.441 0.846 1.00
CUI: C0239234
Disease: Low set ears
Low set ears 		disease 0.100 None 0 1
Entrez Id: 55252
Gene Symbol: ASXL2
ASXL2 		ASXL transcriptional regulator 2 0.617 0.692 1.00
CUI: C0239234
Disease: Low set ears
Low set ears 		disease 0.100 None 0 1
Entrez Id: 5518
Gene Symbol: PPP2R1A
PPP2R1A 		protein phosphatase 2 scaffold subunit Aalpha 0.588 0.577 0.98
CUI: C0239234
Disease: Low set ears
Low set ears 		disease 0.100 None 0 1
Entrez Id: 55023
Gene Symbol: PHIP
PHIP 		pleckstrin homology domain interacting protein 0.595 0.769 1.00
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