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: 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
Entrez Id: 23469
Gene Symbol: PHF3
PHF3
PHD finger protein 3 0.760 0.192 0.99
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
disease 0.100 None 1.000 2 13 2018 2019
Entrez Id: 5264
Gene Symbol: PHYH
PHYH
phytanoyl-CoA 2-hydroxylase 0.659 0.577 2.4E-06
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
disease 0.100 None 1.000 2 2 1997 2004
Entrez Id: 254359
Gene Symbol: ZDHHC24
ZDHHC24
zinc finger DHHC-type containing 24 0.722 0.462 4.2E-04
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
disease 0.100 None 1.000 2 2 2002 2019
Entrez Id: 79738
Gene Symbol: BBS10
BBS10
Bardet-Biedl syndrome 10 0.644 0.538 1.7E-12
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
disease 0.100 None 1.000 1 2 2006 2006
Entrez Id: 55213
Gene Symbol: RCBTB1
RCBTB1
RCC1 and BTB domain containing protein 1 0.572 0.692 1.6E-06
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
disease 0.100 None 1.000 1 4 2016 2016
Entrez Id: 54714
Gene Symbol: CNGB3
CNGB3
cyclic nucleotide gated channel subunit beta 3 0.633 0.192 7.8E-19
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
disease 0.100 None 1.000 1 1 2019 2019
Entrez Id: 116933
Gene Symbol: CLRN1-AS1
CLRN1-AS1
CLRN1 antisense RNA 1 0.821 0.269
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
disease 0.100 None 1.000 1 2 2002 2002
Entrez Id: 102723377
Gene Symbol: CDH23-AS1
CDH23-AS1
CDH23 antisense RNA 1 0.839 0.192
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
disease 0.100 None 1.000 1 1 2019 2019
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: 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: 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: 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: 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: 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: 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: 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: 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: 80025
Gene Symbol: PANK2
PANK2
pantothenate kinase 2 0.559 0.808 7.4E-07
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
disease 0.110 None 1.000 1 1 2003 2015
Entrez Id: 166379
Gene Symbol: BBS12
BBS12
Bardet-Biedl syndrome 12 0.674 0.462 2.3E-07
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
disease 0.110 None 1.000 1 1 2016 2019
Entrez Id: 10083
Gene Symbol: USH1C
USH1C
USH1 protein network component harmonin 0.628 0.538 4.0E-18
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
disease 0.110 None 1.000 1 2 2011 2019
Entrez Id: 755
Gene Symbol: CFAP410
CFAP410
cilia and flagella associated protein 410 0.633 0.615 3.3E-07
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
disease 0.110 None 1.000 0 2 2016 2016
Entrez Id: 27241
Gene Symbol: BBS9
BBS9
Bardet-Biedl syndrome 9 0.615 0.577 4.2E-17
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
disease 0.110 None 1.000 0 3 2012 2012
Entrez Id: 9187
Gene Symbol: SLC24A1
SLC24A1
solute carrier family 24 member 1 0.716 0.154 9.2E-05
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
disease 0.110 None 1.000 0 2 2016 2016
Entrez Id: 94137
Gene Symbol: RP1L1
RP1L1
RP1 like 1 0.780 0.154 1.8E-10
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
disease 0.110 None 1.000 0 2 2013 2013