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: 80776
Gene Symbol: B9D2
B9D2
B9 domain containing 2 0.606 0.577 5.3E-05
CUI: C4277690
Disease: Ciliopathies
Ciliopathies
disease 0.300 None 1.000 2 0 2011 2015
Entrez Id: 115399
Gene Symbol: LRRC56
LRRC56
leucine rich repeat containing 56 0.670 0.500 7.7E-10
CUI: C4277690
Disease: Ciliopathies
Ciliopathies
disease 0.300 None 1.000 1 0 2018 2018
Entrez Id: 55172
Gene Symbol: DNAAF2
DNAAF2
dynein axonemal assembly factor 2 0.678 0.538 6.5E-09
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: 95681
Gene Symbol: CEP41
CEP41
centrosomal protein 41 0.636 0.500 3.6E-06
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: 6121
Gene Symbol: RPE65
RPE65
retinoid isomerohydrolase RPE65 0.417 0.808 6.5E-14
CUI: C4277690
Disease: Ciliopathies
Ciliopathies
disease 0.300 limited 0 0
Entrez Id: 6337
Gene Symbol: SCNN1A
SCNN1A
sodium channel epithelial 1 subunit alpha 0.601 0.577 1.1E-11
CUI: C4277690
Disease: Ciliopathies
Ciliopathies
disease 0.300 None 0 0
Entrez Id: 6338
Gene Symbol: SCNN1B
SCNN1B
sodium channel epithelial 1 subunit beta 0.628 0.577 5.8E-08
CUI: C4277690
Disease: Ciliopathies
Ciliopathies
disease 0.300 None 0 0
Entrez Id: 55036
Gene Symbol: CCDC40
CCDC40
coiled-coil domain containing 40 0.656 0.538 3.8E-17
CUI: C4277690
Disease: Ciliopathies
Ciliopathies
disease 0.300 limited 0 0
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: 5311
Gene Symbol: PKD2
PKD2
polycystin 2, transient receptor potential cation channel 0.552 0.731 1.7E-04
CUI: C4277690
Disease: Ciliopathies
Ciliopathies
disease 0.300 None 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: 51057
Gene Symbol: WDPCP
WDPCP
WD repeat containing planar cell polarity effector 0.576 0.769 1.1E-10
CUI: C4277690
Disease: Ciliopathies
Ciliopathies
disease 0.300 None 0 0
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: 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: 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: 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: 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: 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: 64072
Gene Symbol: CDH23
CDH23
cadherin related 23 0.539 0.769 3.2E-06
CUI: C4277690
Disease: Ciliopathies
Ciliopathies
disease 0.300 limited 0 0
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: 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: 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: 8701
Gene Symbol: DNAH11
DNAH11
dynein axonemal heavy chain 11 0.587 0.692 2.5E-58
CUI: C4277690
Disease: Ciliopathies
Ciliopathies
disease 0.300 limited 0 0