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: 2261
Gene Symbol: FGFR3
FGFR3 		fibroblast growth factor receptor 3 0.391 0.846 1.6E-05
CUI: C1300257
Disease: Thanatophoric dysplasia, type 2
Thanatophoric dysplasia, type 2 		disease 0.800 strong 0.941 17 15 1995 2018
Entrez Id: 6772
Gene Symbol: STAT1
STAT1 		signal transducer and activator of transcription 1 0.399 0.885 1.00
CUI: C1300257
Disease: Thanatophoric dysplasia, type 2
Thanatophoric dysplasia, type 2 		disease 0.030 None 1.000 3 0 1997 2018
Entrez Id: 1803
Gene Symbol: DPP4
DPP4 		dipeptidyl peptidase 4 0.420 0.808 7.3E-09
CUI: C1300257
Disease: Thanatophoric dysplasia, type 2
Thanatophoric dysplasia, type 2 		disease 0.010 None 1.000 1 0 2019 2019
Entrez Id: 2247
Gene Symbol: FGF2
FGF2 		fibroblast growth factor 2 0.383 0.923 1.8E-02
CUI: C1300257
Disease: Thanatophoric dysplasia, type 2
Thanatophoric dysplasia, type 2 		disease 0.010 None 1.000 1 0 2014 2014
Entrez Id: 2258
Gene Symbol: FGF13
FGF13 		fibroblast growth factor 13 0.514 0.808 0.89
CUI: C1300257
Disease: Thanatophoric dysplasia, type 2
Thanatophoric dysplasia, type 2 		disease 0.010 None 1.000 1 0 2014 2014
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1 		catenin beta 1 0.303 0.885 1.00
CUI: C1300257
Disease: Thanatophoric dysplasia, type 2
Thanatophoric dysplasia, type 2 		disease 0.010 None 1.000 1 0 2012 2012
Entrez Id: 345
Gene Symbol: APOC3
APOC3 		apolipoprotein C3 0.531 0.731 1.0E-02
CUI: C1300257
Disease: Thanatophoric dysplasia, type 2
Thanatophoric dysplasia, type 2 		disease 0.010 None 1.000 1 0 2016 2016
Entrez Id: 3998
Gene Symbol: LMAN1
LMAN1 		lectin, mannose binding 1 0.716 0.423 4.3E-03
CUI: C1300257
Disease: Thanatophoric dysplasia, type 2
Thanatophoric dysplasia, type 2 		disease 0.010 None 1.000 1 0 2008 2008
Entrez Id: 4976
Gene Symbol: OPA1
OPA1 		OPA1 mitochondrial dynamin like GTPase 0.510 0.846 0.99
CUI: C1300257
Disease: Thanatophoric dysplasia, type 2
Thanatophoric dysplasia, type 2 		disease 0.010 None 1.000 1 0 2016 2016
Entrez Id: 5595
Gene Symbol: MAPK3
MAPK3 		mitogen-activated protein kinase 3 0.379 0.885 3.7E-02
CUI: C1300257
Disease: Thanatophoric dysplasia, type 2
Thanatophoric dysplasia, type 2 		disease 0.010 None 1.000 1 0 2018 2018
Entrez Id: 10013
Gene Symbol: HDAC6
HDAC6 		histone deacetylase 6 0.465 0.846 1.00
CUI: C1300257
Disease: Thanatophoric dysplasia, type 2
Thanatophoric dysplasia, type 2 		disease 0.010 None 1.000 1 0 2016 2016