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: 55215
Gene Symbol: FANCI
FANCI 		FA complementation group I 0.543 0.731 8.9E-37
CUI: C0685381
Disease: Congenital hypoplasia of radius
Congenital hypoplasia of radius 		disease 0.100 None 0 0
Entrez Id: 9401
Gene Symbol: RECQL4
RECQL4 		RecQ like helicase 4 0.496 0.808 3.3E-35
CUI: C0685381
Disease: Congenital hypoplasia of radius
Congenital hypoplasia of radius 		disease 0.110 None 1.000 0 0 2005 2005
Entrez Id: 84570
Gene Symbol: COL25A1
COL25A1 		collagen type XXV alpha 1 chain 0.599 0.538 1.6E-18
CUI: C0685381
Disease: Congenital hypoplasia of radius
Congenital hypoplasia of radius 		disease 0.100 None 0 0
Entrez Id: 5889
Gene Symbol: RAD51C
RAD51C 		RAD51 paralog C 0.533 0.692 6.2E-14
CUI: C0685381
Disease: Congenital hypoplasia of radius
Congenital hypoplasia of radius 		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: C0685381
Disease: Congenital hypoplasia of radius
Congenital hypoplasia of radius 		disease 0.100 None 0 0
Entrez Id: 28981
Gene Symbol: IFT81
IFT81 		intraflagellar transport 81 0.700 0.385 9.1E-12
CUI: C0685381
Disease: Congenital hypoplasia of radius
Congenital hypoplasia of radius 		disease 0.100 None 0 0
Entrez Id: 55159
Gene Symbol: RFWD3
RFWD3 		ring finger and WD repeat domain 3 0.569 0.731 3.5E-10
CUI: C0685381
Disease: Congenital hypoplasia of radius
Congenital hypoplasia of radius 		disease 0.100 None 0 0
Entrez Id: 79087
Gene Symbol: ALG12
ALG12 		ALG12 alpha-1,6-mannosyltransferase 0.705 0.500 1.2E-07
CUI: C0685381
Disease: Congenital hypoplasia of radius
Congenital hypoplasia of radius 		disease 0.100 None 0 0
Entrez Id: 29980
Gene Symbol: DONSON
DONSON 		downstream neighbor of SON 0.636 0.538 1.3E-07
CUI: C0685381
Disease: Congenital hypoplasia of radius
Congenital hypoplasia of radius 		disease 0.100 None 0 0
Entrez Id: 157570
Gene Symbol: ESCO2
ESCO2 		establishment of sister chromatid cohesion N-acetyltransferase 2 0.581 0.615 3.2E-07
CUI: C0685381
Disease: Congenital hypoplasia of radius
Congenital hypoplasia of radius 		disease 0.100 None 0 0
Entrez Id: 4038
Gene Symbol: LRP4
LRP4 		LDL receptor related protein 4 0.568 0.692 1.4E-06
CUI: C0685381
Disease: Congenital hypoplasia of radius
Congenital hypoplasia of radius 		disease 0.100 None 0 0
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3 		fibroblast growth factor receptor 3 0.391 0.846 1.6E-05
CUI: C0685381
Disease: Congenital hypoplasia of radius
Congenital hypoplasia of radius 		disease 0.400 strong 0 0
Entrez Id: 4882
Gene Symbol: NPR2
NPR2 		natriuretic peptide receptor 2 0.573 0.615 4.2E-05
CUI: C0685381
Disease: Congenital hypoplasia of radius
Congenital hypoplasia of radius 		disease 0.100 None 0 0
Entrez Id: 1723
Gene Symbol: DHODH
DHODH 		dihydroorotate dehydrogenase (quinone) 0.576 0.769 3.0E-03
CUI: C0685381
Disease: Congenital hypoplasia of radius
Congenital hypoplasia of radius 		disease 0.100 None 0 0
Entrez Id: 1123
Gene Symbol: CHN1
CHN1 		chimerin 1 0.573 0.615 3.1E-02
CUI: C0685381
Disease: Congenital hypoplasia of radius
Congenital hypoplasia of radius 		disease 0.100 None 0 0
Entrez Id: 7476
Gene Symbol: WNT7A
WNT7A 		Wnt family member 7A 0.531 0.692 3.6E-02
CUI: C0685381
Disease: Congenital hypoplasia of radius
Congenital hypoplasia of radius 		disease 0.110 None 1.000 0 0 2011 2011
Entrez Id: 3549
Gene Symbol: IHH
IHH 		Indian hedgehog signaling molecule 0.573 0.538 0.31
CUI: C0685381
Disease: Congenital hypoplasia of radius
Congenital hypoplasia of radius 		disease 0.100 None 0 0
Entrez Id: 6473
Gene Symbol: SHOX
SHOX 		short stature homeobox 0.561 0.654 0.67
CUI: C0685381
Disease: Congenital hypoplasia of radius
Congenital hypoplasia of radius 		disease 0.100 None 0 0
Entrez Id: 8200
Gene Symbol: GDF5
GDF5 		growth differentiation factor 5 0.511 0.692 0.67
CUI: C0685381
Disease: Congenital hypoplasia of radius
Congenital hypoplasia of radius 		disease 0.100 None 0 0
Entrez Id: 9935
Gene Symbol: MAFB
MAFB 		MAF bZIP transcription factor B 0.565 0.731 0.90
CUI: C0685381
Disease: Congenital hypoplasia of radius
Congenital hypoplasia of radius 		disease 0.100 None 0 0
Entrez Id: 92002
Gene Symbol: CCNQ
CCNQ 		cyclin Q 0.663 0.462 0.90
CUI: C0685381
Disease: Congenital hypoplasia of radius
Congenital hypoplasia of radius 		disease 0.100 None 0 0
Entrez Id: 6154
Gene Symbol: RPL26
RPL26 		ribosomal protein L26 0.695 0.423 0.92
CUI: C0685381
Disease: Congenital hypoplasia of radius
Congenital hypoplasia of radius 		disease 0.100 None 0 0
Entrez Id: 6223
Gene Symbol: RPS19
RPS19 		ribosomal protein S19 0.480 0.846 0.92
CUI: C0685381
Disease: Congenital hypoplasia of radius
Congenital hypoplasia of radius 		disease 0.100 None 0 0
Entrez Id: 2255
Gene Symbol: FGF10
FGF10 		fibroblast growth factor 10 0.530 0.692 0.94
CUI: C0685381
Disease: Congenital hypoplasia of radius
Congenital hypoplasia of radius 		disease 0.400 strong 0 0
Entrez Id: 6926
Gene Symbol: TBX3
TBX3 		T-box transcription factor 3 0.525 0.769 0.99
CUI: C0685381
Disease: Congenital hypoplasia of radius
Congenital hypoplasia of radius 		disease 0.100 None 0 0