Phenotype: Macular thickening (HP:0030498)
Associated genes and diseases:
gene_symbol: PRPF8
disease_id: OMIM:600059
disease_name: RETINITIS PIGMENTOSA 13
gene_symbol: PRPF8
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: REEP6
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: REEP6
disease_id: OMIM:617304
disease_name: RETINITIS PIGMENTOSA 77
gene_symbol: ROM1
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: RLBP1
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: RLBP1
disease_id: ORPHA:52427
disease_name: Retinitis punctata albescens
RPA
gene_symbol: CLRN1
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: ABCA4
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: ZNF513
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: BBS1
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: CDHR1
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: ARL2BP
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: RPE65
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: AHI1
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: RP1
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: IDH3A
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: IDH3A
disease_id: OMIM:619007
disease_name: RETINITIS PIGMENTOSA 90
gene_symbol: NEK2
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: EYS
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: IFT88
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: SNRNP200
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: CA4
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: AHR
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: IMPDH1
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: TTC8
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: RPGR
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: CRX
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: PDE6G
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: PDE6G
disease_id: OMIM:613582
disease_name: RETINITIS PIGMENTOSA 57
gene_symbol: IFT172
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: IFT43
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: BBS2
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: MAK
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: FSCN2
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: CERKL
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: IDH3B
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: KIAA1549
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: KIAA1549
disease_id: OMIM:618613
disease_name: RETINITIS PIGMENTOSA 86
gene_symbol: TUB
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: PRPF6
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: COQ8B
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: CRB1
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: MERTK
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: SLC7A14
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: PRCD
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: USH2A
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: ARHGEF18
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: ARHGEF18
disease_id: OMIM:617433
disease_name: RETINITIS PIGMENTOSA 78
gene_symbol: RBP3
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: RHO
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: RHO
disease_id: ORPHA:52427
disease_name: Retinitis punctata albescens
RPA
gene_symbol: LRAT
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: FAM161A
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: SPATA7
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: POMGNT1
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: POMGNT1
disease_id: OMIM:617123
disease_name: RETINITIS PIGMENTOSA 76
gene_symbol: ARL3
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: ARL3
disease_id: OMIM:618173
disease_name: RETINITIS PIGMENTOSA 83
gene_symbol: PDE6A
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: TOPORS
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: PROM1
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: PRPF4
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: RDH12
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: IMPG2
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: TMEM216
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: CC2D2A
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: OFD1
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: SCAPER
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: IFT140
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: GUCA1B
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: CNGA1
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: CNGB1
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: AGBL5
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: PRPH2
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: PRPH2
disease_id: ORPHA:52427
disease_name: Retinitis punctata albescens
RPA
gene_symbol: PCARE
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: BEST1
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: DHX38
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: TULP1
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: RGR
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: PRPF3
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: KLHL7
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: KLHL7
disease_id: OMIM:612943
disease_name: RETINITIS PIGMENTOSA 42
gene_symbol: IMPG1
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: RP1L1
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: RP1L1
disease_id: OMIM:618826
disease_name: RETINITIS PIGMENTOSA 88
gene_symbol: PDE6B
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: RP2
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: KIZ
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: SEMA4A
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: CFAP418
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: ARL6
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: SAG
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: DHDDS
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: DHDDS
disease_id: OMIM:613861
disease_name: RETINITIS PIGMENTOSA 59
gene_symbol: CYP4V2
disease_id: ORPHA:41751
disease_name: Bietti crystalline dystrophy
BCD
Bietti crystalline corneoretinal dystrophy
Bietti crystalline retinopathy
gene_symbol: RPGRIP1
disease_id: OMIM:608194
disease_name: CONE-ROD DYSTROPHY 13
gene_symbol: RDH5
disease_id: ORPHA:52427
disease_name: Retinitis punctata albescens
RPA
gene_symbol: NOD2
disease_id: OMIM:186580
disease_name: BLAU SYNDROME
gene_symbol: MFRP
disease_id: OMIM:611040
disease_name: MICROPHTHALMIA, ISOLATED 5
gene_symbol: OAT
disease_id: OMIM:258870
disease_name: GYRATE ATROPHY OF CHOROID AND RETINA
gene_symbol: VHL
disease_id: ORPHA:892
disease_name: Von Hippel-Lindau disease
Familial cerebelloretinal angiomatosis
Lindau disease
VHL
Von Hippel-Lindau syndrome
gene_symbol: CCND1
disease_id: ORPHA:892
disease_name: Von Hippel-Lindau disease
Familial cerebelloretinal angiomatosis
Lindau disease
VHL
Von Hippel-Lindau syndrome
gene_symbol: NR2E3
disease_id: OMIM:268100
disease_name: ENHANCED S-CONE SYNDROME
gene_symbol: PRPF31
disease_id: OMIM:600138
disease_name: RETINITIS PIGMENTOSA 11
gene_symbol: NDP
disease_id: ORPHA:891
disease_name: Familial exudative vitreoretinopathy
Criswick-Schepens syndrome
FEVR
gene_symbol: CTNNB1
disease_id: ORPHA:891
disease_name: Familial exudative vitreoretinopathy
Criswick-Schepens syndrome
FEVR
gene_symbol: TSPAN12
disease_id: ORPHA:891
disease_name: Familial exudative vitreoretinopathy
Criswick-Schepens syndrome
FEVR
gene_symbol: LRP5
disease_id: ORPHA:891
disease_name: Familial exudative vitreoretinopathy
Criswick-Schepens syndrome
FEVR
gene_symbol: ZNF408
disease_id: ORPHA:891
disease_name: Familial exudative vitreoretinopathy
Criswick-Schepens syndrome
FEVR
gene_symbol: FZD4
disease_id: ORPHA:891
disease_name: Familial exudative vitreoretinopathy
Criswick-Schepens syndrome
FEVR
gene_symbol: TREX1
disease_id: ORPHA:247691
disease_name: Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
RVCL
RVCL-S
Retinal vasculopathy and cerebral leukoencephalopathy
gene_symbol: TREX1
disease_id: OMIM:192315
disease_name: VASCULOPATHY, RETINAL, WITH CEREBRAL LEUKOENCEPHALOPATHY AND SYSTEMIC MANIFESTATIONS
gene_symbol: CHM
disease_id: ORPHA:180
disease_name: Choroideremia
CHM
Tapetochoroidal dystrophy
gene_symbol: NRL
disease_id: OMIM:613750
disease_name: RETINITIS PIGMENTOSA 27
gene_symbol: RP9
disease_id: OMIM:180104
disease_name: RETINITIS PIGMENTOSA 9
gene_symbol: TRNT1
disease_id: OMIM:616959
disease_name: RETINITIS PIGMENTOSA AND ERYTHROCYTIC MICROCYTOSIS
gene_symbol: HLA-A
disease_id: ORPHA:179
disease_name: Birdshot chorioretinopathy
Birdshot chorioretinitis
Birdshot retinochoroiditis
Birdshot retinochoroidopathy
Vitiliginous choroiditis
gene_symbol: C1QTNF5
disease_id: ORPHA:67042
disease_name: Late-onset retinal degeneration
Autosomal dominant late-onset retinal degeneration
LORD
gene_symbol: HGSNAT
disease_id: OMIM:616544
disease_name: RETINITIS PIGMENTOSA 73
gene_symbol: NLRP3
disease_id: OMIM:148200
disease_name: KERATOENDOTHELIITIS FUGAX HEREDITARIA
gene_symbol: NF2
disease_id: ORPHA:637
disease_name: Full NF2-related schwannomatosis
Full NF2
Full neurofibromatosis type 2
Nonmosaic NF2-related schwannomatosis
Nonmosaic neurofibromatosis type 2
gene_symbol: NF2
disease_id: OMIM:101000
disease_name: NEUROFIBROMATOSIS, TYPE II