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: 7248
Gene Symbol: TSC1
TSC1
TSC complex subunit 1 0.440 0.808 1.00
CUI: C4277690
Disease: Ciliopathies
Ciliopathies
disease 0.300 limited 0 0
Entrez Id: 7249
Gene Symbol: TSC2
TSC2
TSC complex subunit 2 0.439 0.808 1.00
CUI: C4277690
Disease: Ciliopathies
Ciliopathies
disease 0.300 limited 0 0
Entrez Id: 23090
Gene Symbol: ZNF423
ZNF423
zinc finger protein 423 0.592 0.808 1.00
CUI: C4277690
Disease: Ciliopathies
Ciliopathies
disease 0.330 None 1.000 0 0 2012 2017
Entrez Id: 10210
Gene Symbol: TOPORS
TOPORS
TOP1 binding arginine/serine rich protein 0.659 0.538 1.00
CUI: C4277690
Disease: Ciliopathies
Ciliopathies
disease 0.300 limited 0 0
Entrez Id: 6103
Gene Symbol: RPGR
RPGR
retinitis pigmentosa GTPase regulator 0.536 0.692 1.00
CUI: C4277690
Disease: Ciliopathies
Ciliopathies
disease 0.330 None 1.000 0 0 2008 2018
Entrez Id: 4838
Gene Symbol: NODAL
NODAL
nodal growth differentiation factor 0.588 0.731 0.97
CUI: C4277690
Disease: Ciliopathies
Ciliopathies
disease 0.300 None 0 0
Entrez Id: 8481
Gene Symbol: OFD1
OFD1
OFD1 centriole and centriolar satellite protein 0.510 0.808 0.96
CUI: C4277690
Disease: Ciliopathies
Ciliopathies
disease 0.550 definitive 1.000 0 0 2006 2017
Entrez Id: 1482
Gene Symbol: NKX2-5
NKX2-5
NK2 homeobox 5 0.533 0.692 0.95
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: 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
Entrez Id: 93
Gene Symbol: ACVR2B
ACVR2B
activin A receptor type 2B 0.601 0.615 0.83
CUI: C4277690
Disease: Ciliopathies
Ciliopathies
disease 0.300 limited 0 0
Entrez Id: 1406
Gene Symbol: CRX
CRX
cone-rod homeobox 0.565 0.692 0.51
CUI: C4277690
Disease: Ciliopathies
Ciliopathies
disease 0.300 limited 0 0
Entrez Id: 6340
Gene Symbol: SCNN1G
SCNN1G
sodium channel epithelial 1 subunit gamma 0.633 0.577 0.48
CUI: C4277690
Disease: Ciliopathies
Ciliopathies
disease 0.300 None 0 0
Entrez Id: 2657
Gene Symbol: GDF1
GDF1
growth differentiation factor 1 0.529 0.692 0.41
CUI: C4277690
Disease: Ciliopathies
Ciliopathies
disease 0.300 None 0 0
Entrez Id: 7428
Gene Symbol: VHL
VHL
von Hippel-Lindau tumor suppressor 0.443 0.846 8.0E-02
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: 8928
Gene Symbol: FOXH1
FOXH1
forkhead box H1 0.615 0.654 4.2E-02
CUI: C4277690
Disease: Ciliopathies
Ciliopathies
disease 0.300 limited 0 0
Entrez Id: 9227
Gene Symbol: LRAT
LRAT
lecithin retinol acyltransferase 0.608 0.654 2.8E-02
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: 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: 27077
Gene Symbol: B9D1
B9D1
B9 domain containing 1 0.572 0.692 2.8E-03
CUI: C4277690
Disease: Ciliopathies
Ciliopathies
disease 0.310 limited 1.000 3 0 2011 2016
Entrez Id: 51259
Gene Symbol: TMEM216
TMEM216
transmembrane protein 216 0.544 0.615 1.9E-03
CUI: C4277690
Disease: Ciliopathies
Ciliopathies
disease 0.310 None 1.000 0 0 2012 2012
Entrez Id: 22954
Gene Symbol: TRIM32
TRIM32
tripartite motif containing 32 0.587 0.769 1.7E-03
CUI: C4277690
Disease: Ciliopathies
Ciliopathies
disease 0.310 None 1.000 0 0 2014 2014
Entrez Id: 9971
Gene Symbol: NR1H4
NR1H4
nuclear receptor subfamily 1 group H member 4 0.513 0.808 9.4E-04
CUI: C4277690
Disease: Ciliopathies
Ciliopathies
disease 0.300 strong 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