Source: ALL

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: 56992
Gene Symbol: KIF15
KIF15 		kinesin family member 15 0.617 0.654 9.5E-25
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: 55788
Gene Symbol: LMBRD1
LMBRD1 		LMBR1 domain containing 1 0.716 0.385 9.0E-11
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: 650
Gene Symbol: BMP2
BMP2 		bone morphogenetic protein 2 0.432 0.846 0.99
CUI: C0152423
Disease: Congenital small ears
Congenital small ears 		disease 0.100 None 0 0
Entrez Id: 9469
Gene Symbol: CHST3
CHST3 		carbohydrate sulfotransferase 3 0.517 0.846 7.2E-03
CUI: C0152423
Disease: Congenital small ears
Congenital small ears 		disease 0.100 None 0 0
Entrez Id: 55869
Gene Symbol: HDAC8
HDAC8 		histone deacetylase 8 0.511 0.885 0.98
CUI: C0152423
Disease: Congenital small ears
Congenital small ears 		disease 0.100 None 0 0
Entrez Id: 6234
Gene Symbol: RPS28
RPS28 		ribosomal protein S28 0.716 0.423 0.68
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: 55835
Gene Symbol: CENPJ
CENPJ 		centromere protein J 0.546 0.846 2.1E-27
CUI: C0152423
Disease: Congenital small ears
Congenital small ears 		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: C0152423
Disease: Congenital small ears
Congenital small ears 		disease 0.100 None 0 0
Entrez Id: 8514
Gene Symbol: KCNAB2
KCNAB2 		potassium voltage-gated channel subfamily A regulatory beta subunit 2 0.593 0.692 0.80
CUI: C0152423
Disease: Congenital small ears
Congenital small ears 		disease 0.100 None 0 0
Entrez Id: 8626
Gene Symbol: TP63
TP63 		tumor protein p63 0.362 0.769 1.00
CUI: C0152423
Disease: Congenital small ears
Congenital small ears 		disease 0.100 None 0 0
Entrez Id: 8642
Gene Symbol: DCHS1
DCHS1 		dachsous cadherin-related 1 0.592 0.731 1.00
CUI: C0152423
Disease: Congenital small ears
Congenital small ears 		disease 0.100 None 0 0
Entrez Id: 89970
Gene Symbol: RSPRY1
RSPRY1 		ring finger and SPRY domain containing 1 0.705 0.385 1.00
CUI: C0152423
Disease: Congenital small ears
Congenital small ears 		disease 0.100 None 0 0
Entrez Id: 90121
Gene Symbol: TSR2
TSR2 		TSR2 ribosome maturation factor 0.743 0.500 0.80
CUI: C0152423
Disease: Congenital small ears
Congenital small ears 		disease 0.100 None 0 0
Entrez Id: 90161
Gene Symbol: HS6ST2
HS6ST2 		heparan sulfate 6-O-sulfotransferase 2 0.729 0.423 1.0E-03
CUI: C0152423
Disease: Congenital small ears
Congenital small ears 		disease 0.100 None 0 0
Entrez Id: 9215
Gene Symbol: LARGE1
LARGE1 		LARGE xylosyl- and glucuronyltransferase 1 0.526 0.654 0.99
CUI: C0152423
Disease: Congenital small ears
Congenital small ears 		disease 0.100 None 0 0
Entrez Id: 9382
Gene Symbol: COG1
COG1 		component of oligomeric golgi complex 1 0.628 0.692 4.9E-08
CUI: C0152423
Disease: Congenital small ears
Congenital small ears 		disease 0.100 None 0 0
Entrez Id: 9652
Gene Symbol: TTC37
TTC37 		tetratricopeptide repeat domain 37 0.626 0.654 1.7E-29
CUI: C0152423
Disease: Congenital small ears
Congenital small ears 		disease 0.100 None 0 0
Entrez Id: 9723
Gene Symbol: SEMA3E
SEMA3E 		semaphorin 3E 0.515 0.769 8.7E-09
CUI: C0152423
Disease: Congenital small ears
Congenital small ears 		disease 0.100 None 0 0
Entrez Id: 8318
Gene Symbol: CDC45
CDC45 		cell division cycle 45 0.588 0.692 4.6E-05
CUI: C0152423
Disease: Congenital small ears
Congenital small ears 		disease 0.100 None 0 0
Entrez Id: 8241
Gene Symbol: RBM10
RBM10 		RNA binding motif protein 10 0.599 0.615 1.00
CUI: C0152423
Disease: Congenital small ears
Congenital small ears 		disease 0.100 None 0 0
Entrez Id: 729920
Gene Symbol: CRPPA
CRPPA 		CDP-L-ribitol pyrophosphorylase A 0.566 0.654 2.5E-04
CUI: C0152423
Disease: Congenital small ears
Congenital small ears 		disease 0.100 None 0 0
Entrez Id: 7403
Gene Symbol: KDM6A
KDM6A 		lysine demethylase 6A 0.498 0.769 1.00
CUI: C0152423
Disease: Congenital small ears
Congenital small ears 		disease 0.300 strong 0 0