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: 583
Gene Symbol: BBS2
BBS2
Bardet-Biedl syndrome 2 0.565 0.654 1.0E-17
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril
phenotype 0.100 None 0 0
Entrez Id: 6094
Gene Symbol: ROM1
ROM1
retinal outer segment membrane protein 1 0.579 0.654 4.1E-04
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril
phenotype 0.100 None 0 0
Entrez Id: 6100
Gene Symbol: RP9
RP9
RP9 pre-mRNA splicing factor 0.670 0.500 1.9E-02
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril
phenotype 0.100 None 0 0
Entrez Id: 6101
Gene Symbol: RP1
RP1
RP1 axonemal microtubule associated 0.663 0.462 4.4E-13
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril
phenotype 0.100 None 0 0
Entrez Id: 6102
Gene Symbol: RP2
RP2
RP2 activator of ARL3 GTPase 0.670 0.346 0.96
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril
phenotype 0.100 None 0 0
Entrez Id: 6103
Gene Symbol: RPGR
RPGR
retinitis pigmentosa GTPase regulator 0.536 0.692 1.00
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril
phenotype 0.100 None 0 0
Entrez Id: 6121
Gene Symbol: RPE65
RPE65
retinoid isomerohydrolase RPE65 0.417 0.808 6.5E-14
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril
phenotype 0.100 None 0 0
Entrez Id: 6197
Gene Symbol: RPS6KA3
RPS6KA3
ribosomal protein S6 kinase A3 0.491 0.846 1.00
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril
phenotype 0.100 None 0 0
Entrez Id: 6295
Gene Symbol: SAG
SAG
S-antigen visual arrestin 0.570 0.731 1.5E-16
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril
phenotype 0.100 None 0 0
Entrez Id: 6309
Gene Symbol: SC5D
SC5D
sterol-C5-desaturase 0.641 0.577 2.6E-03
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril
phenotype 0.100 None 0 0
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A
sodium voltage-gated channel alpha subunit 2 0.518 0.731 1.00
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril
phenotype 0.100 None 0 0
Entrez Id: 60529
Gene Symbol: ALX4
ALX4
ALX homeobox 4 0.560 0.692 0.36
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril
phenotype 0.100 None 0 0
Entrez Id: 60509
Gene Symbol: AGBL5
AGBL5
ATP/GTP binding protein like 5 0.711 0.269 2.4E-08
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril
phenotype 0.100 None 0 0
Entrez Id: 5830
Gene Symbol: PEX5
PEX5
peroxisomal biogenesis factor 5 0.561 0.731 5.6E-05
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril
phenotype 0.100 None 0 0
Entrez Id: 5879
Gene Symbol: RAC1
RAC1
Rac family small GTPase 1 0.429 0.962 0.76
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril
phenotype 0.100 None 0 0
Entrez Id: 5885
Gene Symbol: RAD21
RAD21
RAD21 cohesin complex component 0.528 0.846 1.00
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril
phenotype 0.100 None 0 0
Entrez Id: 5949
Gene Symbol: RBP3
RBP3
retinol binding protein 3 0.621 0.500 1.1E-04
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril
phenotype 0.100 None 0 0
Entrez Id: 5961
Gene Symbol: PRPH2
PRPH2
peripherin 2 0.551 0.500 0.12
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril
phenotype 0.100 None 0 0
Entrez Id: 5995
Gene Symbol: RGR
RGR
retinal G protein coupled receptor 0.691 0.385 2.4E-10
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril
phenotype 0.100 None 0 0
Entrez Id: 60
Gene Symbol: ACTB
ACTB
actin beta 0.325 0.923 0.99
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril
phenotype 0.100 None 0 0
Entrez Id: 6010
Gene Symbol: RHO
RHO
rhodopsin 0.525 0.769 1.3E-04
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril
phenotype 0.100 None 0 0
Entrez Id: 6017
Gene Symbol: RLBP1
RLBP1
retinaldehyde binding protein 1 0.644 0.500 1.1E-05
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril
phenotype 0.100 None 0 0
Entrez Id: 6023
Gene Symbol: RMRP
RMRP
RNA component of mitochondrial RNA processing endoribonuclease 0.519 0.731
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril
phenotype 0.100 None 0 0
Entrez Id: 63895
Gene Symbol: PIEZO2
PIEZO2
piezo type mechanosensitive ion channel component 2 0.529 0.769 8.1E-07
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril
phenotype 0.100 None 0 0
Entrez Id: 64131
Gene Symbol: XYLT1
XYLT1
xylosyltransferase 1 0.581 0.731 0.92
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril
phenotype 0.100 None 0 0