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: 7044
Gene Symbol: LEFTY2
LEFTY2
left-right determination factor 2 0.736 0.231 2.9E-04
CUI: C4277690
Disease: Ciliopathies
Ciliopathies
disease 0.300 limited 0 0
Entrez Id: 63929
Gene Symbol: XPNPEP3
XPNPEP3
X-prolyl aminopeptidase 3 0.769 0.269 1.9E-08
CUI: C4277690
Disease: Ciliopathies
Ciliopathies
disease 0.320 limited 1.000 1 0 2010 2010
Entrez Id: 167691
Gene Symbol: LCA5
LCA5
lebercilin LCA5 0.674 0.269 4.1E-05
CUI: C4277690
Disease: Ciliopathies
Ciliopathies
disease 0.320 limited 1.000 0 0 2009 2018
Entrez Id: 78987
Gene Symbol: CRELD1
CRELD1
cysteine rich with EGF like domains 1 0.670 0.269 1.3E-11
CUI: C4277690
Disease: Ciliopathies
Ciliopathies
disease 0.300 limited 0 0
Entrez Id: 145226
Gene Symbol: RDH12
RDH12
retinol dehydrogenase 12 0.650 0.308 2.3E-09
CUI: C4277690
Disease: Ciliopathies
Ciliopathies
disease 0.300 limited 0 0
Entrez Id: 343035
Gene Symbol: RD3
RD3
retinal degeneration 3, GUCY2D regulator 0.700 0.308 2.6E-05
CUI: C4277690
Disease: Ciliopathies
Ciliopathies
disease 0.300 limited 0 0
Entrez Id: 3769
Gene Symbol: KCNJ13
KCNJ13
potassium inwardly rectifying channel subfamily J member 13 0.659 0.308 1.4E-02
CUI: C4277690
Disease: Ciliopathies
Ciliopathies
disease 0.300 limited 0 0
Entrez Id: 124590
Gene Symbol: USH1G
USH1G
USH1 protein network component sans 0.659 0.346 3.7E-05
CUI: C4277690
Disease: Ciliopathies
Ciliopathies
disease 0.300 limited 0 0
Entrez Id: 23746
Gene Symbol: AIPL1
AIPL1
aryl hydrocarbon receptor interacting protein like 1 0.644 0.346 1.2E-05
CUI: C4277690
Disease: Ciliopathies
Ciliopathies
disease 0.300 limited 0 0
Entrez Id: 388939
Gene Symbol: PCARE
PCARE
photoreceptor cilium actin regulator 0.674 0.346 3.0E-18
CUI: C4277690
Disease: Ciliopathies
Ciliopathies
disease 0.300 limited 0 0
Entrez Id: 25814
Gene Symbol: ATXN10
ATXN10
ataxin 10 0.650 0.385 3.5E-04
CUI: C4277690
Disease: Ciliopathies
Ciliopathies
disease 0.300 limited 0 0
Entrez Id: 25861
Gene Symbol: WHRN
WHRN
whirlin 0.670 0.385 7.7E-05
CUI: C4277690
Disease: Ciliopathies
Ciliopathies
disease 0.300 limited 0 0
Entrez Id: 51524
Gene Symbol: TMEM138
TMEM138
transmembrane protein 138 0.656 0.385 4.7E-02
CUI: C4277690
Disease: Ciliopathies
Ciliopathies
disease 0.300 None 0 0
Entrez Id: 55812
Gene Symbol: SPATA7
SPATA7
spermatogenesis associated 7 0.656 0.385 5.2E-13
CUI: C4277690
Disease: Ciliopathies
Ciliopathies
disease 0.300 limited 0 0
Entrez Id: 261734
Gene Symbol: NPHP4
NPHP4
nephrocystin 4 0.674 0.423 1.7E-29
CUI: C4277690
Disease: Ciliopathies
Ciliopathies
disease 0.310 None 1.000 0 0 2007 2007
Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A
myosin VIIA 0.585 0.423 1.6E-38
CUI: C4277690
Disease: Ciliopathies
Ciliopathies
disease 0.300 limited 0 0
Entrez Id: 7401
Gene Symbol: CLRN1
CLRN1
clarin 1 0.633 0.423 1.7E-08
CUI: C4277690
Disease: Ciliopathies
Ciliopathies
disease 0.300 limited 0 0
Entrez Id: 7547
Gene Symbol: ZIC3
ZIC3
Zic family member 3 0.587 0.423 0.92
CUI: C4277690
Disease: Ciliopathies
Ciliopathies
disease 0.300 None 0 0
Entrez Id: 166379
Gene Symbol: BBS12
BBS12
Bardet-Biedl syndrome 12 0.674 0.462 2.3E-07
CUI: C4277690
Disease: Ciliopathies
Ciliopathies
disease 0.300 None 0 0
Entrez Id: 22897
Gene Symbol: CEP164
CEP164
centrosomal protein 164 0.711 0.462 4.8E-27
CUI: C4277690
Disease: Ciliopathies
Ciliopathies
disease 0.320 strong 1.000 0 0 2012 2014
Entrez Id: 3614
Gene Symbol: IMPDH1
IMPDH1
inosine monophosphate dehydrogenase 1 0.623 0.462 5.8E-06
CUI: C4277690
Disease: Ciliopathies
Ciliopathies
disease 0.300 limited 0 0
Entrez Id: 55212
Gene Symbol: BBS7
BBS7
Bardet-Biedl syndrome 7 0.682 0.462 7.1E-09
CUI: C4277690
Disease: Ciliopathies
Ciliopathies
disease 0.300 None 0 0
Entrez Id: 7287
Gene Symbol: TULP1
TULP1
TUB like protein 1 0.623 0.462 5.7E-04
CUI: C4277690
Disease: Ciliopathies
Ciliopathies
disease 0.310 limited 1.000 0 0 2014 2014
Entrez Id: 84100
Gene Symbol: ARL6
ARL6
ADP ribosylation factor like GTPase 6 0.636 0.462 1.0E-02
CUI: C4277690
Disease: Ciliopathies
Ciliopathies
disease 0.300 None 0 0
Entrez Id: 84662
Gene Symbol: GLIS2
GLIS2
GLIS family zinc finger 2 0.608 0.462 0.86
CUI: C4277690
Disease: Ciliopathies
Ciliopathies
disease 0.310 None 1.000 0 0 2014 2014