Source: CLINVAR

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: 23503
Gene Symbol: ZFYVE26
ZFYVE26
zinc finger FYVE-type containing 26 0.636 0.615 4.7E-23
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
disease 0.100 None 0 3
Entrez Id: 114757
Gene Symbol: CYGB
CYGB
cytoglobin 0.579 0.577 0.10
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
disease 0.100 None 0 2
Entrez Id: 6573
Gene Symbol: SLC19A1
SLC19A1
solute carrier family 19 member 1 0.523 0.692 6.5E-06
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
disease 0.100 None 0 1
Entrez Id: 80781
Gene Symbol: COL18A1
COL18A1
collagen type XVIII alpha 1 chain 0.449 0.808 1.7E-10
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
disease 0.100 None 0 1
Entrez Id: 338917
Gene Symbol: VSX2
VSX2
visual system homeobox 2 0.695 0.462 1.6E-04
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
disease 0.100 None 0 1
Entrez Id: 23093
Gene Symbol: TTLL5
TTLL5
tubulin tyrosine ligase like 5 0.686 0.500 2.9E-22
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
disease 0.100 None 0 1
Entrez Id: 81853
Gene Symbol: TMEM14B
TMEM14B
transmembrane protein 14B 0.931 0.077 9.7E-09
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
disease 0.100 None 0 4
Entrez Id: 100616530
Gene Symbol: C8orf37-AS1
C8orf37-AS1
C8orf37 antisense RNA 1 0.821 0.154
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
disease 0.100 None 0 2
Entrez Id: 129880
Gene Symbol: BBS5
BBS5
Bardet-Biedl syndrome 5 0.659 0.577 4.8E-06
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
disease 0.100 None 0 1
Entrez Id: 4901
Gene Symbol: NRL
NRL
neural retina leucine zipper 0.647 0.462 4.8E-02
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
disease 0.670 strong 0.750 0 1 1999 2017
Entrez Id: 6017
Gene Symbol: RLBP1
RLBP1
retinaldehyde binding protein 1 0.644 0.500 1.1E-05
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
disease 0.440 strong 0.800 1 3 1990 2015
Entrez Id: 84140
Gene Symbol: FAM161A
FAM161A
FAM161 centrosomal protein A 0.691 0.308 5.1E-13
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
disease 0.500 strong 0.938 6 7 2004 2019
Entrez Id: 23418
Gene Symbol: CRB1
CRB1
crumbs cell polarity complex component 1 0.570 0.654 5.6E-16
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
disease 0.700 strong 0.970 3 13 1999 2019
Entrez Id: 346007
Gene Symbol: EYS
EYS
eyes shut homolog 0.631 0.538 3.7E-41
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
disease 0.700 strong 0.974 11 46 2005 2019
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
ATP binding cassette subfamily A member 4 0.493 0.769 5.3E-48
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
disease 0.700 strong 0.974 8 19 1998 2019
Entrez Id: 5961
Gene Symbol: PRPH2
PRPH2
peripherin 2 0.551 0.500 0.12
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
disease 0.200 None 0.974 2 9 1991 2019
Entrez Id: 6010
Gene Symbol: RHO
RHO
rhodopsin 0.525 0.769 1.3E-04
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
disease 0.700 strong 0.989 6 20 1978 2020
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
usherin 0.579 0.692 1.6E-94
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
disease 0.700 strong 1.000 16 53 1998 2019
Entrez Id: 5158
Gene Symbol: PDE6B
PDE6B
phosphodiesterase 6B 0.626 0.346 2.6E-27
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
disease 0.900 strong 1.000 9 18 1992 2019
Entrez Id: 6101
Gene Symbol: RP1
RP1
RP1 axonemal microtubule associated 0.663 0.462 4.4E-13
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
disease 0.500 strong 1.000 6 19 1999 2015
Entrez Id: 5145
Gene Symbol: PDE6A
PDE6A
phosphodiesterase 6A 0.691 0.269 6.6E-25
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
disease 0.900 strong 1.000 6 7 1995 2019
Entrez Id: 1258
Gene Symbol: CNGB1
CNGB1
cyclic nucleotide gated channel subunit beta 1 0.628 0.538 1.8E-37
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
disease 0.680 strong 1.000 6 12 2001 2019
Entrez Id: 79947
Gene Symbol: DHDDS
DHDDS
dehydrodolichyl diphosphate synthase subunit 0.468 0.885 0.25
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
disease 0.430 strong 1.000 6 1 2011 2018
Entrez Id: 375298
Gene Symbol: CERKL
CERKL
ceramide kinase like 0.678 0.308 9.8E-25
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
disease 0.490 strong 1.000 6 3 2004 2019
Entrez Id: 152519
Gene Symbol: NIPAL1
NIPAL1
NIPA like domain containing 1 0.760 0.346 2.5E-10
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
disease 0.100 None 1.000 6 8 1995 2019