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: 11197
Gene Symbol: WIF1
WIF1 		WNT inhibitory factor 1 0.507 0.731 1.3E-09
CUI: C0152423
Disease: Congenital small ears
Congenital small ears 		disease 0.300 limited 0 0
Entrez Id: 392255
Gene Symbol: GDF6
GDF6 		growth differentiation factor 6 0.587 0.500 0.99
CUI: C0152423
Disease: Congenital small ears
Congenital small ears 		disease 0.300 moderate 0 0
Entrez Id: 344167
Gene Symbol: FOXI3
FOXI3 		forkhead box I3 0.805 0.308
CUI: C0152423
Disease: Congenital small ears
Congenital small ears 		disease 0.300 limited 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
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA 		phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha 0.292 0.923 1.00
CUI: C0152423
Disease: Congenital small ears
Congenital small ears 		disease 0.100 None 0 0
Entrez Id: 5339
Gene Symbol: PLEC
PLEC 		plectin 0.523 0.808 8.3E-12
CUI: C0152423
Disease: Congenital small ears
Congenital small ears 		disease 0.100 None 0 0
Entrez Id: 5426
Gene Symbol: POLE
POLE 		DNA polymerase epsilon, catalytic subunit 0.526 0.731 8.0E-27
CUI: C0152423
Disease: Congenital small ears
Congenital small ears 		disease 0.100 None 0 0
Entrez Id: 546
Gene Symbol: ATRX
ATRX 		ATRX chromatin remodeler 0.452 0.808 1.00
CUI: C0152423
Disease: Congenital small ears
Congenital small ears 		disease 0.100 None 0 0
Entrez Id: 55252
Gene Symbol: ASXL2
ASXL2 		ASXL transcriptional regulator 2 0.617 0.692 1.00
CUI: C0152423
Disease: Congenital small ears
Congenital small ears 		disease 0.100 None 0 1
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4 		SMAD family member 4 0.401 0.808 1.00
CUI: C0152423
Disease: Congenital small ears
Congenital small ears 		disease 0.100 None 0 0
Entrez Id: 55777
Gene Symbol: MBD5
MBD5 		methyl-CpG binding domain protein 5 0.581 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: 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: 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: 5190
Gene Symbol: PEX6
PEX6 		peroxisomal biogenesis factor 6 0.547 0.731 6.3E-06
CUI: C0152423
Disease: Congenital small ears
Congenital small ears 		disease 0.100 None 0 2
Entrez Id: 51339
Gene Symbol: DACT1
DACT1 		dishevelled binding antagonist of beta catenin 1 0.547 0.692 0.40
CUI: C0152423
Disease: Congenital small ears
Congenital small ears 		disease 0.100 None 0 0
Entrez Id: 51199
Gene Symbol: NIN
NIN 		ninein 0.659 0.731 9.6E-09
CUI: C0152423
Disease: Congenital small ears
Congenital small ears 		disease 0.100 None 0 0
Entrez Id: 4174
Gene Symbol: MCM5
MCM5 		minichromosome maintenance complex component 5 0.617 0.615 5.9E-04
CUI: C0152423
Disease: Congenital small ears
Congenital small ears 		disease 0.100 None 0 0
Entrez Id: 4297
Gene Symbol: KMT2A
KMT2A 		lysine methyltransferase 2A 0.410 0.885 1.00
CUI: C0152423
Disease: Congenital small ears
Congenital small ears 		disease 0.100 None 0 1
Entrez Id: 4488
Gene Symbol: MSX2
MSX2 		msh homeobox 2 0.539 0.769 0.26
CUI: C0152423
Disease: Congenital small ears
Congenital small ears 		disease 0.100 None 0 0
Entrez Id: 473
Gene Symbol: RERE
RERE 		arginine-glutamic acid dipeptide repeats 0.526 0.846 1.00
CUI: C0152423
Disease: Congenital small ears
Congenital small ears 		disease 0.100 None 0 0
Entrez Id: 5058
Gene Symbol: PAK1
PAK1 		p21 (RAC1) activated kinase 1 0.494 0.808 1.3E-03
CUI: C0152423
Disease: Congenital small ears
Congenital small ears 		disease 0.100 None 0 0
Entrez Id: 5087
Gene Symbol: PBX1
PBX1 		PBX homeobox 1 0.534 0.846 1.00
CUI: C0152423
Disease: Congenital small ears
Congenital small ears 		disease 0.100 None 0 0
Entrez Id: 51025
Gene Symbol: PAM16
PAM16 		presequence translocase associated motor 16 0.729 0.462 0.24
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