Disease #00001 (RP (AR) (Retinitis Pigmentosa AR))

Official abbreviation RP (AR)
Name Retinitis Pigmentosa AR
OMIM ID -
Inheritance Autosomal recessive
Individuals reported having this disease 71
Phenotype entries for this disease 0
Associated with 96 genes ABCA4, ABCC6, ADGRA3, ADGRV1, AHI1, AIPL1, ALMS1, ARL6, BBS1, BBS2, BBS4, BBS5, BBS7, BBS9, BEST1, CA4, CDH23, CDHR1, CEP164, CEP290, 76 more...ABCA4, ABCC6, ADGRA3, ADGRV1, AHI1, AIPL1, ALMS1, ARL6, BBS1, BBS2, BBS4, BBS5, BBS7, BBS9, BEST1, CA4, CDH23, CDHR1, CEP164, CEP290, CERKL, CFAP410, CFAP418, CLN3, CLRN1, CNGA1, CNGA3, CNGB1, CNGB3, CNNM4, COL11A1, CRB1, CRX, CYP4V2, E2F1, EYS, FAM161A, FOXC1, GPR179, GUCA1B, GUCY2D, HMCN1, IMPDH1, IMPG2, IQCB1, JAG1, LCA5, LRAT, LRIT3, LRP5, MAPRE2, MERTK, MKKS, MPZ, MYO7A, NMNAT1, NR2E3, NUDT19, OAT, OPA1, OTX2, PANK2, PCARE, PCDH15, PDE6A, PDE6C, PRCD, PROM1, PRPF31, PRPF8, PRPH2, RAX2, RBP3, RDH12, RDH5, RHO, RHOD, RIMS1, RLBP1, RP1, RPE65, RPGRIP1, RSC1A1, SIX6, SMOC1, SNRNP200, SPATA7, STK19, TGFBI, TOPORS, TTC8, TULP1, USH1C, USH2A, WFS1, ZNF423
Associated tissues -
Disease features -
Remarks -


Individuals

71 entries on 1 page. Showing entries 1 - 71.
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AscendingIndividual ID     

Lab-ID     

Reference     

Remarks     

Disease     

Phenotype details     

Genes screened

Variants in genes

Variants     

Panel size     

Owner     
00000001 RP-1 - - RP (AR) - CRX CRX 1 1 Saeed Reza Ghaffari
00000002 RP-2 - - RP (AR) - CEP290 CEP290 2 1 variome.ir
00000005 RP-5 - - RP (AD), RP (AR) - OPA1 OPA1 1 1 variome.ir
00000006 RP-6 - - RP (AR) - BBS2 BBS2 1 1 variome.ir
00000007 RP-70 - - RP (AR) - PDE6B - 0 1 variome.ir
00000008 RP-70 - - RP (AR) - PDE6B PDE6B 1 1 variome.ir
00000009 RP-70 - - RP (AR) - PDE6B - 0 1 variome.ir
00000010 RP-8 - - RP (AR) - RDH12 RDH12 1 1 variome.ir
00000011 RP-9 - - RP (AR) - PROM1 PROM1 1 1 variome.ir
00000013 RP-12 - - RP (AR) - ABCA4 ABCA4 1 1 variome.ir
00000014 RP-13 - - RP (AR) - ABCA4 ABCA4 1 1 variome.ir
00000015 RP-16 - - RP (AR) - ABCA4 ABCA4 1 1 variome.ir
00000017 RP-11 - - RP (AR) - EYS EYS 2 1 Saeed Reza Ghaffari
00000018 RP-14 - - RP (AR) - AIPL1 - 0 1 Saeed Reza Ghaffari
00000020 RP-19 - - RP (AR) - ABCA4 - 0 1 variome.ir
00000021 RP-20 - - RP (AR) - AIPL1 AIPL1 1 1 variome.ir
00000022 RP-21 - - RP (AR) - ALMS1 ALMS1 1 1 variome.ir
00000023 RP-22 - - RP (AR) - USH2A USH2A 1 1 variome.ir
00000024 RP-24 - - RP (AR) - RPGRIP1 RPGRIP1 1 1 variome.ir
00000026 RP-26 - - RP (AR) - CNGB1 CNGB1 1 1 variome.ir
00000027 RP-27 - - RP (AR) - TULP1 - 0 1 variome.ir
00000028 RP-28 - - RP (AR) - TULP1 - 0 1 variome.ir
00000029 RP-29 - - RP (AR) - CRB1 CRB1 1 1 variome.ir
00000030 RP-30 - - RP (AR) - NR2E3 - 0 1 variome.ir
00000032 RP-32 - - RP (AR) - IMPDH1 IMPDH1 1 1 variome.ir
00000033 RP-33 - - RP (AR) - CEP290 CEP290 1 1 variome.ir
00000034 RP-34 - - RP (AR) - SNRNP200 - 0 1 variome.ir
00000035 RP-35 - - RP (AR) - PDE6A - 0 1 variome.ir
00000036 RP-36 - - RP (AR) - PCDH15 PCDH15 1 1 variome.ir
00000037 RP-37 - - RP (AR) - RP2 - 0 1 variome.ir
00000039 RP-39 - - RP (AR) - IMPG2 IMPG2 1 1 variome.ir
00000040 RP-40 - - RP (AR) - - - 0 1 variome.ir
00000041 RP-42 - - RP (AR) - RIMS1 RIMS1 1 1 variome.ir
00000042 RP-43 - - RP (AR) - PDE6A - 0 1 variome.ir
00000043 RP-44 - - RP (AR) - PDE6A - 0 1 variome.ir
00000044 RP-45 - - RP (AR) - PANK2 PANK2 1 1 variome.ir
00000045 RP-47 - - RP (AR) - MYO7A MYO7A 1 1 variome.ir
00000046 RP-48 - - RP (AR) - PCARE - 0 1 variome.ir
00000047 RP-49 - - RP (AR) - RDH12 RDH12 1 1 variome.ir
00000048 RP-51 - - RP (AR) - IMPG2 IMPG2 1 1 variome.ir
00000049 RP-52 - - RP (AR) - MYO7A MYO7A 1 1 variome.ir
00000050 RP-53 - - RP (AR) - NR2E3 - 0 1 variome.ir
00000051 RP-54 - - RP (AR) - PCARE - 0 1 variome.ir
00000052 RP-55 - - RP (AR) - RLBP1 RLBP1 1 1 variome.ir
00000054 RP-57 - - RP (AR) - CNGB1 CNGB1 1 1 variome.ir
00000055 RP-58 - - RP (AR) - CDH23 CDH23 1 1 variome.ir
00000056 RP-60 - - RP (AR) - CERKL CERKL 1 1 variome.ir
00000058 RP-62 - - RP (AR) - CNGB1 CNGB1 1 1 variome.ir
00000059 RP-63 - - RP (AR) - PROM1 PROM1 1 1 variome.ir
00000060 RP-64 - - RP (AR) - AIPL1 AIPL1 1 1 variome.ir
00000061 RP-65 - - RP (AR) - EYS EYS 1 1 variome.ir
00000062 RP-66 - - RP (AR) - LRAT - 0 1 variome.ir
00000063 RP-67 - - RP (AR) - LRAT - 0 1 variome.ir
00000064 RP-68 - - RP (AR) - CERKL CERKL 1 1 variome.ir
00000065 RP-69 - - RP (AR) - BBS2 BBS2 1 1 variome.ir
00000066 RP-71 - - RP (AR) - PDE6C - 0 1 variome.ir
00000067 RP-72 - - RP (AR) - PRPH2 PRPH2 1 1 variome.ir
00000068 RP-73 - - RP (AR) - USH2A USH2A 1 1 variome.ir
00000069 RP-74 - - RP (AR) - IMPG2 IMPG2 1 1 variome.ir
00000070 RP-75 - - RP (AR) - RLBP1 RLBP1 1 1 variome.ir
00000071 RP-76 - - RP (AR) - ARL6 ARL6 1 1 variome.ir
00000072 RP-77 - - RP (AR) - CNGA3 CNGA3 1 1 variome.ir
00000073 RP-80 - - RP (AR) - CFAP418 - 0 1 variome.ir
00000075 RP-85 - - RP (AR) - RDH12 RDH12 1 1 variome.ir
00000077 RP-89 - - RP (AR) - PROM1 PROM1 1 1 variome.ir
00000078 RP-92 - - RP (AR) - BBS12 - 0 1 variome.ir
00000079 RP-94 - - RP (AR) - PROM1 PROM1 1 1 variome.ir
00000083 RP-98 - - RP (AR) - EYS EYS 1 1 variome.ir
00000087 RP-104 - - RP (AR) - CRB1 CRB1 1 1 variome.ir
00000089 RP-107 - - RP (AR) - RP1 RP1 1 1 variome.ir
00000090 RP-108 - - RP (AR) - BBS12 - 0 1 variome.ir
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