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: 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: 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: 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: 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: 352909
Gene Symbol: DNAAF3
DNAAF3
dynein axonemal assembly factor 3 0.599 0.731 5.5E-08
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: 339829
Gene Symbol: CCDC39
CCDC39
coiled-coil domain containing 39 0.641 0.615 7.9E-12
CUI: C4277690
Disease: Ciliopathies
Ciliopathies
disease 0.300 limited 0 0
Entrez Id: 3000
Gene Symbol: GUCY2D
GUCY2D
guanylate cyclase 2D, retinal 0.570 0.769 6.5E-10
CUI: C4277690
Disease: Ciliopathies
Ciliopathies
disease 0.300 limited 0 0
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: 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: 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: 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: 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: 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: 65217
Gene Symbol: PCDH15
PCDH15
protocadherin related 15 0.601 0.577 8.0E-25
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: 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: 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: 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: 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: 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