Source: INFERRED

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: 176
Gene Symbol: ACAN
ACAN
aggrecan 0.528 0.846 1.00
CUI: C0013336
Disease: Dwarfism
Dwarfism
disease 0.400 None 1.000 0 0 2004 2020
Entrez Id: 64374
Gene Symbol: SIL1
SIL1
SIL1 nucleotide exchange factor 0.584 0.731 1.2E-02
CUI: C0013336
Disease: Dwarfism
Dwarfism
disease 0.110 None 1.000 0 0 2020 2020
Entrez Id: 10847
Gene Symbol: SRCAP
SRCAP
Snf2 related CREBBP activator protein 0.610 0.731 1.00
CUI: C0013336
Disease: Dwarfism
Dwarfism
disease 0.110 None 1.000 0 0 2019 2019
Entrez Id: 114548
Gene Symbol: NLRP3
NLRP3
NLR family pyrin domain containing 3 0.361 0.962 8.1E-04
CUI: C0013336
Disease: Dwarfism
Dwarfism
disease 0.110 None < 0.001 0 0 2019 2019
Entrez Id: 1184
Gene Symbol: CLCN5
CLCN5
chloride voltage-gated channel 5 0.593 0.577 0.99
CUI: C0013336
Disease: Dwarfism
Dwarfism
disease 0.110 None 1.000 0 0 2019 2019
Entrez Id: 1298
Gene Symbol: COL9A2
COL9A2
collagen type IX alpha 2 chain 0.572 0.769 1.0E-08
CUI: C0013336
Disease: Dwarfism
Dwarfism
disease 0.110 None 1.000 0 0 2019 2019
Entrez Id: 1299
Gene Symbol: COL9A3
COL9A3
collagen type IX alpha 3 chain 0.569 0.769 3.3E-12
CUI: C0013336
Disease: Dwarfism
Dwarfism
disease 0.110 None 1.000 0 0 2019 2019
Entrez Id: 170691
Gene Symbol: ADAMTS17
ADAMTS17
ADAM metallopeptidase with thrombospondin type 1 motif 17 0.678 0.385 2.8E-15
CUI: C0013336
Disease: Dwarfism
Dwarfism
disease 0.140 None 1.000 0 0 2012 2019
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
fibroblast growth factor receptor 3 0.391 0.846 1.6E-05
CUI: C0013336
Disease: Dwarfism
Dwarfism
disease 0.200 None 1.000 0 0 1994 2019
Entrez Id: 26224
Gene Symbol: FBXL3
FBXL3
F-box and leucine rich repeat protein 3 0.736 0.462 0.98
CUI: C0013336
Disease: Dwarfism
Dwarfism
disease 0.410 strong 1.000 0 0 2019 2019
Entrez Id: 2688
Gene Symbol: GH1
GH1
growth hormone 1 0.373 0.923 3.0E-02
CUI: C0013336
Disease: Dwarfism
Dwarfism
disease 0.400 None 0.974 0 0 1981 2019
Entrez Id: 2690
Gene Symbol: GHR
GHR
growth hormone receptor 0.490 0.846 8.4E-05
CUI: C0013336
Disease: Dwarfism
Dwarfism
disease 0.200 None 0.907 0 0 1991 2019
Entrez Id: 29123
Gene Symbol: ANKRD11
ANKRD11
ankyrin repeat domain 11 0.556 0.808 1.00
CUI: C0013336
Disease: Dwarfism
Dwarfism
disease 0.140 None 1.000 0 0 2012 2019
Entrez Id: 29980
Gene Symbol: DONSON
DONSON
downstream neighbor of SON 0.636 0.538 1.3E-07
CUI: C0013336
Disease: Dwarfism
Dwarfism
disease 0.410 None 1.000 0 0 2017 2019
Entrez Id: 3479
Gene Symbol: IGF1
IGF1
insulin like growth factor 1 0.318 0.885 0.27
CUI: C0013336
Disease: Dwarfism
Dwarfism
disease 0.400 None 0.945 0 0 1981 2019
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
lamin A/C 0.384 0.885 1.00
CUI: C0013336
Disease: Dwarfism
Dwarfism
disease 0.130 None 1.000 0 0 2005 2019
Entrez Id: 5144
Gene Symbol: PDE4D
PDE4D
phosphodiesterase 4D 0.519 0.846 1.00
CUI: C0013336
Disease: Dwarfism
Dwarfism
disease 0.110 None 1.000 0 0 2019 2019
Entrez Id: 51741
Gene Symbol: WWOX
WWOX
WW domain containing oxidoreductase 0.453 0.808 1.2E-15
CUI: C0013336
Disease: Dwarfism
Dwarfism
disease 0.110 None 1.000 0 0 2019 2019
Entrez Id: 5236
Gene Symbol: PGM1
PGM1
phosphoglucomutase 1 0.628 0.577 5.1E-15
CUI: C0013336
Disease: Dwarfism
Dwarfism
disease 0.110 None 1.000 0 0 2019 2019
Entrez Id: 5286
Gene Symbol: PIK3C2A
PIK3C2A
phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha 0.633 0.692 1.0E-02
CUI: C0013336
Disease: Dwarfism
Dwarfism
disease 0.110 None 1.000 0 0 2019 2019
Entrez Id: 54496
Gene Symbol: PRMT7
PRMT7
protein arginine methyltransferase 7 0.674 0.538 5.5E-15
CUI: C0013336
Disease: Dwarfism
Dwarfism
disease 0.110 None 1.000 0 0 2019 2019
Entrez Id: 5530
Gene Symbol: PPP3CA
PPP3CA
protein phosphatase 3 catalytic subunit alpha 0.568 0.769 1.00
CUI: C0013336
Disease: Dwarfism
Dwarfism
disease 0.110 None 1.000 0 0 2019 2019
Entrez Id: 55315
Gene Symbol: SLC29A3
SLC29A3
solute carrier family 29 member 3 0.578 0.769 1.3E-07
CUI: C0013336
Disease: Dwarfism
Dwarfism
disease 0.110 None 1.000 0 0 2019 2019
Entrez Id: 5573
Gene Symbol: PRKAR1A
PRKAR1A
protein kinase cAMP-dependent type I regulatory subunit alpha 0.401 0.846 1.00
CUI: C0013336
Disease: Dwarfism
Dwarfism
disease 0.110 None 1.000 0 0 2019 2019
Entrez Id: 6023
Gene Symbol: RMRP
RMRP
RNA component of mitochondrial RNA processing endoribonuclease 0.519 0.731
CUI: C0013336
Disease: Dwarfism
Dwarfism
disease 0.200 None 1.000 0 0 1986 2019