Source: HPO

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: 4000
Gene Symbol: LMNA
LMNA 		lamin A/C 0.384 0.885 1.00
CUI: C0426799
Disease: Congenital hypoplasia of clavicle
Congenital hypoplasia of clavicle 		disease 0.130 None 1.000 0 0 2007 2010
Entrez Id: 860
Gene Symbol: RUNX2
RUNX2 		RUNX family transcription factor 2 0.437 0.846 0.95
CUI: C0426799
Disease: Congenital hypoplasia of clavicle
Congenital hypoplasia of clavicle 		disease 0.120 None 1.000 0 0 2013 2017
Entrez Id: 10269
Gene Symbol: ZMPSTE24
ZMPSTE24 		zinc metallopeptidase STE24 0.517 0.731 8.9E-16
CUI: C0426799
Disease: Congenital hypoplasia of clavicle
Congenital hypoplasia of clavicle 		disease 0.110 None 1.000 0 0 2010 2010
Entrez Id: 64131
Gene Symbol: XYLT1
XYLT1 		xylosyltransferase 1 0.581 0.731 0.92
CUI: C0426799
Disease: Congenital hypoplasia of clavicle
Congenital hypoplasia of clavicle 		disease 0.100 None 0 0
Entrez Id: 64840
Gene Symbol: PORCN
PORCN 		porcupine O-acyltransferase 0.545 0.692 1.00
CUI: C0426799
Disease: Congenital hypoplasia of clavicle
Congenital hypoplasia of clavicle 		disease 0.100 None 0 0
Entrez Id: 6910
Gene Symbol: TBX5
TBX5 		T-box transcription factor 5 0.528 0.769 1.00
CUI: C0426799
Disease: Congenital hypoplasia of clavicle
Congenital hypoplasia of clavicle 		disease 0.100 None 0 0
Entrez Id: 6926
Gene Symbol: TBX3
TBX3 		T-box transcription factor 3 0.525 0.769 0.99
CUI: C0426799
Disease: Congenital hypoplasia of clavicle
Congenital hypoplasia of clavicle 		disease 0.100 None 0 0
Entrez Id: 7291
Gene Symbol: TWIST1
TWIST1 		twist family bHLH transcription factor 1 0.397 0.846 0.34
CUI: C0426799
Disease: Congenital hypoplasia of clavicle
Congenital hypoplasia of clavicle 		disease 0.100 None 0 0
Entrez Id: 79633
Gene Symbol: FAT4
FAT4 		FAT atypical cadherin 4 0.539 0.808 1.00
CUI: C0426799
Disease: Congenital hypoplasia of clavicle
Congenital hypoplasia of clavicle 		disease 0.100 None 0 0
Entrez Id: 8260
Gene Symbol: NAA10
NAA10 		N-alpha-acetyltransferase 10, NatA catalytic subunit 0.535 0.692 0.76
CUI: C0426799
Disease: Congenital hypoplasia of clavicle
Congenital hypoplasia of clavicle 		disease 0.100 None 0 0
Entrez Id: 8642
Gene Symbol: DCHS1
DCHS1 		dachsous cadherin-related 1 0.592 0.731 1.00
CUI: C0426799
Disease: Congenital hypoplasia of clavicle
Congenital hypoplasia of clavicle 		disease 0.100 None 0 0
Entrez Id: 9321
Gene Symbol: TRIP11
TRIP11 		thyroid hormone receptor interactor 11 0.595 0.654 1.7E-12
CUI: C0426799
Disease: Congenital hypoplasia of clavicle
Congenital hypoplasia of clavicle 		disease 0.100 None 0 0
Entrez Id: 633
Gene Symbol: BGN
BGN 		biglycan 0.484 0.808 0.45
CUI: C0426799
Disease: Congenital hypoplasia of clavicle
Congenital hypoplasia of clavicle 		disease 0.100 None 0 0
Entrez Id: 54880
Gene Symbol: BCOR
BCOR 		BCL6 corepressor 0.471 0.808 1.00
CUI: C0426799
Disease: Congenital hypoplasia of clavicle
Congenital hypoplasia of clavicle 		disease 0.100 None 0 0
Entrez Id: 538
Gene Symbol: ATP7A
ATP7A 		ATPase copper transporting alpha 0.494 0.769 1.00
CUI: C0426799
Disease: Congenital hypoplasia of clavicle
Congenital hypoplasia of clavicle 		disease 0.100 None 0 0
Entrez Id: 10847
Gene Symbol: SRCAP
SRCAP 		Snf2 related CREBBP activator protein 0.610 0.731 1.00
CUI: C0426799
Disease: Congenital hypoplasia of clavicle
Congenital hypoplasia of clavicle 		disease 0.100 None 0 0
Entrez Id: 11285
Gene Symbol: B4GALT7
B4GALT7 		beta-1,4-galactosyltransferase 7 0.628 0.654 1.1E-04
CUI: C0426799
Disease: Congenital hypoplasia of clavicle
Congenital hypoplasia of clavicle 		disease 0.100 None 0 0
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2 		fibroblast growth factor receptor 2 0.380 0.808 1.00
CUI: C0426799
Disease: Congenital hypoplasia of clavicle
Congenital hypoplasia of clavicle 		disease 0.100 None 0 0
Entrez Id: 2316
Gene Symbol: FLNA
FLNA 		filamin A 0.419 0.846 1.00
CUI: C0426799
Disease: Congenital hypoplasia of clavicle
Congenital hypoplasia of clavicle 		disease 0.100 None 0 0
Entrez Id: 26224
Gene Symbol: FBXL3
FBXL3 		F-box and leucine rich repeat protein 3 0.736 0.462 0.98
CUI: C0426799
Disease: Congenital hypoplasia of clavicle
Congenital hypoplasia of clavicle 		disease 0.100 None 0 0
Entrez Id: 3239
Gene Symbol: HOXD13
HOXD13 		homeobox D13 0.483 0.808 8.6E-03
CUI: C0426799
Disease: Congenital hypoplasia of clavicle
Congenital hypoplasia of clavicle 		disease 0.100 None 0 0
Entrez Id: 340419
Gene Symbol: RSPO2
RSPO2 		R-spondin 2 0.558 0.577 2.5E-02
CUI: C0426799
Disease: Congenital hypoplasia of clavicle
Congenital hypoplasia of clavicle 		disease 0.100 None 0 0
Entrez Id: 3425
Gene Symbol: IDUA
IDUA 		alpha-L-iduronidase 0.499 0.846 3.8E-13
CUI: C0426799
Disease: Congenital hypoplasia of clavicle
Congenital hypoplasia of clavicle 		disease 0.100 None 0 0
Entrez Id: 4488
Gene Symbol: MSX2
MSX2 		msh homeobox 2 0.539 0.769 0.26
CUI: C0426799
Disease: Congenital hypoplasia of clavicle
Congenital hypoplasia of clavicle 		disease 0.100 None 0 0
Entrez Id: 51626
Gene Symbol: DYNC2LI1
DYNC2LI1 		dynein cytoplasmic 2 light intermediate chain 1 0.601 0.500 3.2E-09
CUI: C0426799
Disease: Congenital hypoplasia of clavicle
Congenital hypoplasia of clavicle 		disease 0.100 None 0 0