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: 10743
Gene Symbol: RAI1
RAI1 		retinoic acid induced 1 0.545 0.731 1.00
CUI: C0264142
Disease: Spade-like hand
Spade-like hand 		disease 0.100 None 0 0
Entrez Id: 3930
Gene Symbol: LBR
LBR 		lamin B receptor 0.473 0.808 0.18
CUI: C0264142
Disease: Spade-like hand
Spade-like hand 		disease 0.100 None 0 0
Entrez Id: 54808
Gene Symbol: DYM
DYM 		dymeclin 0.563 0.769 3.6E-13
CUI: C0264142
Disease: Spade-like hand
Spade-like hand 		disease 0.100 None 0 0
Entrez Id: 54880
Gene Symbol: BCOR
BCOR 		BCL6 corepressor 0.471 0.808 1.00
CUI: C0264142
Disease: Spade-like hand
Spade-like hand 		disease 0.100 None 0 0
Entrez Id: 55012
Gene Symbol: PPP2R3C
PPP2R3C 		protein phosphatase 2 regulatory subunit B''gamma 0.700 0.538 6.8E-09
CUI: C0264142
Disease: Spade-like hand
Spade-like hand 		disease 0.100 None 0 0
Entrez Id: 5573
Gene Symbol: PRKAR1A
PRKAR1A 		protein kinase cAMP-dependent type I regulatory subunit alpha 0.401 0.846 1.00
CUI: C0264142
Disease: Spade-like hand
Spade-like hand 		disease 0.100 None 0 0
Entrez Id: 5745
Gene Symbol: PTH1R
PTH1R 		parathyroid hormone 1 receptor 0.544 0.731 0.57
CUI: C0264142
Disease: Spade-like hand
Spade-like hand 		disease 0.100 None 0 0
Entrez Id: 57560
Gene Symbol: IFT80
IFT80 		intraflagellar transport 80 0.575 0.692 1.4E-19
CUI: C0264142
Disease: Spade-like hand
Spade-like hand 		disease 0.100 None 0 0
Entrez Id: 6197
Gene Symbol: RPS6KA3
RPS6KA3 		ribosomal protein S6 kinase A3 0.491 0.846 1.00
CUI: C0264142
Disease: Spade-like hand
Spade-like hand 		disease 0.100 None 0 0
Entrez Id: 79718
Gene Symbol: TBL1XR1
TBL1XR1 		TBL1X receptor 1 0.534 0.808 1.00
CUI: C0264142
Disease: Spade-like hand
Spade-like hand 		disease 0.100 None 0 0
Entrez Id: 81794
Gene Symbol: ADAMTS10
ADAMTS10 		ADAM metallopeptidase with thrombospondin type 1 motif 10 0.641 0.500 0.84
CUI: C0264142
Disease: Spade-like hand
Spade-like hand 		disease 0.100 None 0 0
Entrez Id: 3549
Gene Symbol: IHH
IHH 		Indian hedgehog signaling molecule 0.573 0.538 0.31
CUI: C0264142
Disease: Spade-like hand
Spade-like hand 		disease 0.100 None 0 0
Entrez Id: 2719
Gene Symbol: GPC3
GPC3 		glypican 3 0.466 0.808 1.00
CUI: C0264142
Disease: Spade-like hand
Spade-like hand 		disease 0.100 None 0 0
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1 		collagen type II alpha 1 chain 0.444 0.846 1.00
CUI: C0264142
Disease: Spade-like hand
Spade-like hand 		disease 0.100 None 0 0
Entrez Id: 145173
Gene Symbol: B3GLCT
B3GLCT 		beta 3-glucosyltransferase 0.554 0.731 7.1E-17
CUI: C0264142
Disease: Spade-like hand
Spade-like hand 		disease 0.100 None 0 0
Entrez Id: 171023
Gene Symbol: ASXL1
ASXL1 		ASXL transcriptional regulator 1 0.482 0.808 1.3E-14
CUI: C0264142
Disease: Spade-like hand
Spade-like hand 		disease 0.100 None 0 0
Entrez Id: 2200
Gene Symbol: FBN1
FBN1 		fibrillin 1 0.417 0.846 1.00
CUI: C0264142
Disease: Spade-like hand
Spade-like hand 		disease 0.100 None 0 0
Entrez Id: 2239
Gene Symbol: GPC4
GPC4 		glypican 4 0.547 0.769 0.93
CUI: C0264142
Disease: Spade-like hand
Spade-like hand 		disease 0.100 None 0 0
Entrez Id: 2245
Gene Symbol: FGD1
FGD1 		FYVE, RhoGEF and PH domain containing 1 0.573 0.731 1.00
CUI: C0264142
Disease: Spade-like hand
Spade-like hand 		disease 0.100 None 0 0
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1 		fibroblast growth factor receptor 1 0.362 0.885 1.00
CUI: C0264142
Disease: Spade-like hand
Spade-like hand 		disease 0.100 None 0 0
Entrez Id: 2273
Gene Symbol: FHL1
FHL1 		four and a half LIM domains 1 0.532 0.731 0.97
CUI: C0264142
Disease: Spade-like hand
Spade-like hand 		disease 0.100 None 0 0
Entrez Id: 23384
Gene Symbol: SPECC1L
SPECC1L 		sperm antigen with calponin homology and coiled-coil domains 1 like 0.593 0.654 0.86
CUI: C0264142
Disease: Spade-like hand
Spade-like hand 		disease 0.100 None 0 0
Entrez Id: 2623
Gene Symbol: GATA1
GATA1 		GATA binding protein 1 0.483 0.808 0.95
CUI: C0264142
Disease: Spade-like hand
Spade-like hand 		disease 0.100 None 0 0
Entrez Id: 8481
Gene Symbol: OFD1
OFD1 		OFD1 centriole and centriolar satellite protein 0.510 0.808 0.96
CUI: C0264142
Disease: Spade-like hand
Spade-like hand 		disease 0.100 None 0 0