Source: GENOMICS_ENGLAND

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: 5116
Gene Symbol: PCNT
PCNT
pericentrin 0.564 0.808 4.0E-58
CUI: C0878659
Disease: Disproportionate short stature
Disproportionate short stature
phenotype 0.400 None 0 0
Entrez Id: 79659
Gene Symbol: DYNC2H1
DYNC2H1
dynein cytoplasmic 2 heavy chain 1 0.555 0.731 1.1E-44
CUI: C0878659
Disease: Disproportionate short stature
Disproportionate short stature
phenotype 0.300 None 0 0
Entrez Id: 132884
Gene Symbol: EVC2
EVC2
EvC ciliary complex subunit 2 0.585 0.692 1.0E-34
CUI: C0878659
Disease: Disproportionate short stature
Disproportionate short stature
phenotype 0.300 None 0 0
Entrez Id: 23363
Gene Symbol: OBSL1
OBSL1
obscurin like cytoskeletal adaptor 1 0.686 0.308 1.0E-25
CUI: C0878659
Disease: Disproportionate short stature
Disproportionate short stature
phenotype 0.300 None 0 0
Entrez Id: 4750
Gene Symbol: NEK1
NEK1
NIMA related kinase 1 0.575 0.769 1.9E-25
CUI: C0878659
Disease: Disproportionate short stature
Disproportionate short stature
phenotype 0.300 None 0 0
Entrez Id: 2121
Gene Symbol: EVC
EVC
EvC ciliary complex subunit 1 0.587 0.577 3.5E-25
CUI: C0878659
Disease: Disproportionate short stature
Disproportionate short stature
phenotype 0.300 None 0 0
Entrez Id: 55764
Gene Symbol: IFT122
IFT122
intraflagellar transport 122 0.560 0.846 2.4E-24
CUI: C0878659
Disease: Disproportionate short stature
Disproportionate short stature
phenotype 0.300 None 0 0
Entrez Id: 9742
Gene Symbol: IFT140
IFT140
intraflagellar transport 140 0.572 0.692 9.9E-24
CUI: C0878659
Disease: Disproportionate short stature
Disproportionate short stature
phenotype 0.300 None 0 0
Entrez Id: 57539
Gene Symbol: WDR35
WDR35
WD repeat domain 35 0.525 0.692 1.0E-22
CUI: C0878659
Disease: Disproportionate short stature
Disproportionate short stature
phenotype 0.300 None 0 0
Entrez Id: 203859
Gene Symbol: ANO5
ANO5
anoctamin 5 0.619 0.538 2.9E-22
CUI: C0878659
Disease: Disproportionate short stature
Disproportionate short stature
phenotype 0.300 None 0 0
Entrez Id: 9820
Gene Symbol: CUL7
CUL7
cullin 7 0.633 0.500 2.6E-21
CUI: C0878659
Disease: Disproportionate short stature
Disproportionate short stature
phenotype 0.300 None 0 0
Entrez Id: 3339
Gene Symbol: HSPG2
HSPG2
heparan sulfate proteoglycan 2 0.438 0.885 1.0E-19
CUI: C0878659
Disease: Disproportionate short stature
Disproportionate short stature
phenotype 0.300 None 0 0
Entrez Id: 57560
Gene Symbol: IFT80
IFT80
intraflagellar transport 80 0.575 0.692 1.4E-19
CUI: C0878659
Disease: Disproportionate short stature
Disproportionate short stature
phenotype 0.300 None 0 0
Entrez Id: 1297
Gene Symbol: COL9A1
COL9A1
collagen type IX alpha 1 chain 0.566 0.731 3.1E-19
CUI: C0878659
Disease: Disproportionate short stature
Disproportionate short stature
phenotype 0.300 None 0 0
Entrez Id: 4322
Gene Symbol: MMP13
MMP13
matrix metallopeptidase 13 0.452 0.923 7.9E-18
CUI: C0878659
Disease: Disproportionate short stature
Disproportionate short stature
phenotype 0.400 None 0 0
Entrez Id: 4318
Gene Symbol: MMP9
MMP9
matrix metallopeptidase 9 0.305 0.923 1.9E-17
CUI: C0878659
Disease: Disproportionate short stature
Disproportionate short stature
phenotype 0.300 None 0 0
Entrez Id: 59341
Gene Symbol: TRPV4
TRPV4
transient receptor potential cation channel subfamily V member 4 0.457 0.808 2.2E-16
CUI: C0878659
Disease: Disproportionate short stature
Disproportionate short stature
phenotype 0.300 None 0 0
Entrez Id: 3977
Gene Symbol: LIFR
LIFR
LIF receptor subunit alpha 0.523 0.808 1.5E-13
CUI: C0878659
Disease: Disproportionate short stature
Disproportionate short stature
phenotype 0.300 None 0 0
Entrez Id: 54808
Gene Symbol: DYM
DYM
dymeclin 0.563 0.769 3.6E-13
CUI: C0878659
Disease: Disproportionate short stature
Disproportionate short stature
phenotype 0.300 None 0 0
Entrez Id: 9321
Gene Symbol: TRIP11
TRIP11
thyroid hormone receptor interactor 11 0.595 0.654 1.7E-12
CUI: C0878659
Disease: Disproportionate short stature
Disproportionate short stature
phenotype 0.400 None 0 0
Entrez Id: 1299
Gene Symbol: COL9A3
COL9A3
collagen type IX alpha 3 chain 0.569 0.769 3.3E-12
CUI: C0878659
Disease: Disproportionate short stature
Disproportionate short stature
phenotype 0.300 None 0 0
Entrez Id: 26123
Gene Symbol: TCTN3
TCTN3
tectonic family member 3 0.566 0.615 4.2E-12
CUI: C0878659
Disease: Disproportionate short stature
Disproportionate short stature
phenotype 0.300 None 0 0
Entrez Id: 9060
Gene Symbol: PAPSS2
PAPSS2
3'-phosphoadenosine 5'-phosphosulfate synthase 2 0.682 0.462 2.0E-10
CUI: C0878659
Disease: Disproportionate short stature
Disproportionate short stature
phenotype 0.300 None 0 0
Entrez Id: 2317
Gene Symbol: FLNB
FLNB
filamin B 0.458 0.923 6.1E-10
CUI: C0878659
Disease: Disproportionate short stature
Disproportionate short stature
phenotype 0.300 None 0 0
Entrez Id: 3835
Gene Symbol: KIF22
KIF22
kinesin family member 22 0.552 0.654 9.2E-10
CUI: C0878659
Disease: Disproportionate short stature
Disproportionate short stature
phenotype 0.300 None 0 0