Phenotype: Macular degeneration (HP:0000608)
Associated genes and diseases:
gene_symbol: PRPF31
disease_id: OMIM:600138
disease_name: RETINITIS PIGMENTOSA 11
gene_symbol: C9
disease_id: OMIM:615591
disease_name: MACULAR DEGENERATION, AGE-RELATED, 15
gene_symbol: PITPNM3
disease_id: OMIM:600977
disease_name: CONE-ROD DYSTROPHY 5
gene_symbol: ABCA4
disease_id: OMIM:248200
disease_name: STARGARDT DISEASE 1
gene_symbol: ABCA4
disease_id: ORPHA:827
disease_name: Stargardt disease
Fundus flavimaculatus
Stargardt 1
gene_symbol: ABCA4
disease_id: OMIM:153800
disease_name: MACULAR DEGENERATION, AGE-RELATED, 2
gene_symbol: RPGR
disease_id: OMIM:300834
disease_name: MACULAR DEGENERATION, X-LINKED ATROPHIC
gene_symbol: RAX2
disease_id: OMIM:610381
disease_name: CONE-ROD DYSTROPHY 11
gene_symbol: RAX2
disease_id: OMIM:613757
disease_name: MACULAR DEGENERATION, AGE-RELATED, 6
gene_symbol: RP1L1
disease_id: OMIM:618826
disease_name: RETINITIS PIGMENTOSA 88
gene_symbol: CFI
disease_id: OMIM:615439
disease_name: MACULAR DEGENERATION, AGE-RELATED, 13
gene_symbol: PROM1
disease_id: ORPHA:827
disease_name: Stargardt disease
Fundus flavimaculatus
Stargardt 1
gene_symbol: PROM1
disease_id: OMIM:612095
disease_name: RETINITIS PIGMENTOSA 41
gene_symbol: PROM1
disease_id: OMIM:603786
disease_name: STARGARDT DISEASE 4
gene_symbol: PRPH2
disease_id: ORPHA:827
disease_name: Stargardt disease
Fundus flavimaculatus
Stargardt 1
gene_symbol: ELOVL4
disease_id: ORPHA:827
disease_name: Stargardt disease
Fundus flavimaculatus
Stargardt 1
gene_symbol: CNGB3
disease_id: ORPHA:827
disease_name: Stargardt disease
Fundus flavimaculatus
Stargardt 1
gene_symbol: HTRA1
disease_id: OMIM:610149
disease_name: MACULAR DEGENERATION, AGE-RELATED, 7
gene_symbol: CST3
disease_id: OMIM:611953
disease_name: MACULAR DEGENERATION, AGE-RELATED, 11
gene_symbol: VWA8
disease_id: OMIM:620422
disease_name: RETINITIS PIGMENTOSA 97
gene_symbol: ZNF513
disease_id: OMIM:613617
disease_name: RETINITIS PIGMENTOSA 58
gene_symbol: UNC119
disease_id: OMIM:620342
disease_name: CONE-ROD DYSTROPHY 24
gene_symbol: FBLN5
disease_id: OMIM:608895
disease_name: NEUROPATHY, HEREDITARY, WITH OR WITHOUT AGE-RELATED MACULAR DEGENERATION
gene_symbol: FBLN5
disease_id: OMIM:619764
disease_name: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1H
gene_symbol: ZFYVE26
disease_id: OMIM:270700
disease_name: SPASTIC PARAPLEGIA 15, AUTOSOMAL RECESSIVE
gene_symbol: SCAPER
disease_id: OMIM:618195
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER AND RETINITIS PIGMENTOSA
gene_symbol: GRK1
disease_id: ORPHA:75382
disease_name: Oguchi disease
Congenital stationary night blindness, Oguchi type
Oguchi syndrome
gene_symbol: SAG
disease_id: ORPHA:75382
disease_name: Oguchi disease
Congenital stationary night blindness, Oguchi type
Oguchi syndrome
gene_symbol: C1QTNF5
disease_id: ORPHA:67042
disease_name: Late-onset retinal degeneration
Autosomal dominant late-onset retinal degeneration
LORD
gene_symbol: ABCC6
disease_id: OMIM:177850
disease_name: PSEUDOXANTHOMA ELASTICUM, FORME FRUSTE
gene_symbol: ABCC6
disease_id: OMIM:264800
disease_name: PSEUDOXANTHOMA ELASTICUM
gene_symbol: RLBP1
disease_id: ORPHA:85128
disease_name: Bothnia retinal dystrophy
Västerbotten dystrophy
gene_symbol: RLBP1
disease_id: OMIM:607475
disease_name: BOTHNIA RETINAL DYSTROPHY
gene_symbol: XYLT1
disease_id: OMIM:264800
disease_name: PSEUDOXANTHOMA ELASTICUM
gene_symbol: XYLT2
disease_id: OMIM:264800
disease_name: PSEUDOXANTHOMA ELASTICUM
gene_symbol: TTC8
disease_id: OMIM:613464
disease_name: RETINITIS PIGMENTOSA 51
gene_symbol: CP
disease_id: ORPHA:48818
disease_name: Aceruloplasminemia
Hereditary ceruloplasmin deficiency
gene_symbol: PRPF4
disease_id: OMIM:615922
disease_name: RETINITIS PIGMENTOSA 70
gene_symbol: ALDH3A2
disease_id: ORPHA:816
disease_name: Sjögren-Larsson syndrome
Fatty acid alcohol oxidoreductase deficiency
gene_symbol: ALDH3A2
disease_id: OMIM:270200
disease_name: SJOGREN-LARSSON SYNDROME
gene_symbol: PRCD
disease_id: OMIM:610599
disease_name: RETINITIS PIGMENTOSA 36
gene_symbol: GUCA1B
disease_id: OMIM:613827
disease_name: RETINITIS PIGMENTOSA 48
gene_symbol: ATXN7
disease_id: OMIM:164500
disease_name: SPINOCEREBELLAR ATAXIA 7
gene_symbol: ATXN7
disease_id: ORPHA:94147
disease_name: Spinocerebellar ataxia type 7
Ataxia with pigmentary retinopathy
Cerebellar syndrome-pigmentary maculopathy syndrome
SCA7
gene_symbol: SPG11
disease_id: OMIM:604360
disease_name: SPASTIC PARAPLEGIA 11, AUTOSOMAL RECESSIVE
gene_symbol: APOE
disease_id: OMIM:603075
disease_name: MACULAR DEGENERATION, AGE-RELATED, 1
gene_symbol: CFHR3
disease_id: OMIM:603075
disease_name: MACULAR DEGENERATION, AGE-RELATED, 1
gene_symbol: HMCN1
disease_id: OMIM:603075
disease_name: MACULAR DEGENERATION, AGE-RELATED, 1
gene_symbol: CFHR1
disease_id: OMIM:603075
disease_name: MACULAR DEGENERATION, AGE-RELATED, 1
gene_symbol: FBLN1
disease_id: ORPHA:404451
disease_name: FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome
gene_symbol: ASAH1
disease_id: ORPHA:333
disease_name: Farber disease
Acid ceramidase deficiency
Farber lipogranulomatosis
gene_symbol: ANO10
disease_id: ORPHA:284289
disease_name: Adult-onset autosomal recessive cerebellar ataxia
Autosomal recessive spinocerebellar ataxia type 10
SCAR10
gene_symbol: SEMA4A
disease_id: OMIM:610283
disease_name: CONE-ROD DYSTROPHY 10
gene_symbol: PPT1
disease_id: OMIM:256730
disease_name: CEROID LIPOFUSCINOSIS, NEURONAL, 1
gene_symbol: RPGRIP1
disease_id: OMIM:608194
disease_name: CONE-ROD DYSTROPHY 13
gene_symbol: CEP78
disease_id: OMIM:617236
disease_name: CONE-ROD DYSTROPHY AND HEARING LOSS 1
gene_symbol: GTF2H5
disease_id: ORPHA:33364
disease_name: Trichothiodystrophy
gene_symbol: CARS1
disease_id: ORPHA:33364
disease_name: Trichothiodystrophy
gene_symbol: ERCC2
disease_id: ORPHA:33364
disease_name: Trichothiodystrophy
gene_symbol: RNF113A
disease_id: ORPHA:33364
disease_name: Trichothiodystrophy
gene_symbol: MPLKIP
disease_id: ORPHA:33364
disease_name: Trichothiodystrophy
gene_symbol: TARS1
disease_id: ORPHA:33364
disease_name: Trichothiodystrophy
gene_symbol: AARS1
disease_id: ORPHA:33364
disease_name: Trichothiodystrophy
gene_symbol: ERCC3
disease_id: ORPHA:33364
disease_name: Trichothiodystrophy
gene_symbol: GTF2E2
disease_id: ORPHA:33364
disease_name: Trichothiodystrophy
gene_symbol: TRAF3IP1
disease_id: OMIM:616629
disease_name: SENIOR-LOKEN SYNDROME 9
gene_symbol: PAX2
disease_id: OMIM:120330
disease_name: PAPILLORENAL SYNDROME
gene_symbol: CDH3
disease_id: OMIM:601553
disease_name: HYPOTRICHOSIS, CONGENITAL, WITH JUVENILE MACULAR DYSTROPHY
gene_symbol: CDH3
disease_id: ORPHA:1573
disease_name: Hypotrichosis with juvenile macular degeneration
HJMD
Hypotrichosis with juvenile macular dystrophy
gene_symbol: IFT140
disease_id: OMIM:266920
disease_name: SHORT-RIB THORACIC DYSPLASIA 9 WITH OR WITHOUT POLYDACTYLY
gene_symbol: LIG3
disease_id: OMIM:619780
disease_name: MITOCHONDRIAL DNA DEPLETION SYNDROME 20 (MNGIE TYPE)
gene_symbol: CLN3
disease_id: OMIM:204200
disease_name: CEROID LIPOFUSCINOSIS, NEURONAL, 3
gene_symbol: COL18A1
disease_id: ORPHA:1571
disease_name: Knobloch syndrome
Knobloch-Layer syndrome
Retinal detachment-occipital encephalocele syndrome
gene_symbol: PAK2
disease_id: ORPHA:1571
disease_name: Knobloch syndrome
Knobloch-Layer syndrome
Retinal detachment-occipital encephalocele syndrome
gene_symbol: CNGB1
disease_id: OMIM:613767
disease_name: RETINITIS PIGMENTOSA 45
gene_symbol: CFH
disease_id: OMIM:610698
disease_name: MACULAR DEGENERATION, AGE-RELATED, 4
gene_symbol: FBN2
disease_id: OMIM:616118
disease_name: MACULAR DEGENERATION, EARLY-ONSET
gene_symbol: EFEMP1
disease_id: ORPHA:75376
disease_name: Familial drusen
DHRD
Dominant drusen
Dominant radial drusen
Doyne honeycomb retinal dystrophy
Malattia leventinese
gene_symbol: DHX38
disease_id: OMIM:618220
disease_name: RETINITIS PIGMENTOSA 84
gene_symbol: ARL2BP
disease_id: OMIM:615434
disease_name: RETINITIS PIGMENTOSA 82 WITH OR WITHOUT SITUS INVERSUS
gene_symbol: CFAP418
disease_id: OMIM:614500
disease_name: CONE-ROD DYSTROPHY 16
gene_symbol: LZTFL1
disease_id: OMIM:615994
disease_name: BARDET-BIEDL SYNDROME 17
gene_symbol: RS1
disease_id: OMIM:312700
disease_name: RETINOSCHISIS 1, X-LINKED, JUVENILE
gene_symbol: PLK4
disease_id: OMIM:616171
disease_name: MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 2
gene_symbol: GUCY2D
disease_id: OMIM:601777
disease_name: CONE-ROD DYSTROPHY 6
gene_symbol: GUCY2D
disease_id: ORPHA:75377
disease_name: Central areolar choroidal dystrophy
Areolar atrophy of the macula
CACD
Central areolar choroidal sclerosis
gene_symbol: RHO
disease_id: ORPHA:52427
disease_name: Retinitis punctata albescens
RPA
gene_symbol: RDH5
disease_id: ORPHA:52427
disease_name: Retinitis punctata albescens
RPA
gene_symbol: GBA1
disease_id: OMIM:230800
disease_name: GAUCHER DISEASE, TYPE I
gene_symbol: HK1
disease_id: OMIM:617460
disease_name: RETINITIS PIGMENTOSA 79
gene_symbol: PCYT1A
disease_id: ORPHA:85167
disease_name: Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome
SMD-CRD
gene_symbol: PCYT1A
disease_id: OMIM:608940
disease_name: SPONDYLOMETAPHYSEAL DYSPLASIA WITH CONE-ROD DYSTROPHY
gene_symbol: MERTK
disease_id: OMIM:613862
disease_name: RETINITIS PIGMENTOSA 38
gene_symbol: KCNV2
disease_id: OMIM:610356
disease_name: RETINAL CONE DYSTROPHY 3B
gene_symbol: GUCA1A
disease_id: ORPHA:75377
disease_name: Central areolar choroidal dystrophy
Areolar atrophy of the macula
CACD
Central areolar choroidal sclerosis
gene_symbol: GUCA1A
disease_id: OMIM:602093
disease_name: CONE DYSTROPHY 3
gene_symbol: EPG5
disease_id: OMIM:242840
disease_name: VICI SYNDROME
gene_symbol: MAPKAPK3
disease_id: OMIM:617111
disease_name: MACULAR DYSTROPHY, PATTERNED, 3
gene_symbol: DRAM2
disease_id: OMIM:616502
disease_name: CONE-ROD DYSTROPHY 21
gene_symbol: NRL
disease_id: OMIM:613750
disease_name: RETINITIS PIGMENTOSA 27
gene_symbol: YARS1
disease_id: OMIM:619418
disease_name: NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 2
gene_symbol: WDR19
disease_id: OMIM:616307
disease_name: SENIOR-LOKEN SYNDROME 8
gene_symbol: SLC24A1
disease_id: OMIM:613830
disease_name: NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1D
gene_symbol: CNNM4
disease_id: OMIM:217080
disease_name: JALILI SYNDROME
gene_symbol: SLC6A6
disease_id: OMIM:145350
disease_name: HYPOTAURINEMIC RETINAL DEGENERATION AND CARDIOMYOPATHY
gene_symbol: SAMD7
disease_id: OMIM:620762
disease_name: MACULAR DYSTROPHY WITH OR WITHOUT CONE DYSFUNCTION
gene_symbol: RP9
disease_id: OMIM:180104
disease_name: RETINITIS PIGMENTOSA 9
gene_symbol: NMNAT1
disease_id: OMIM:608553
disease_name: LEBER CONGENITAL AMAUROSIS 9
gene_symbol: NMNAT1
disease_id: OMIM:619260
disease_name: SPONDYLOEPIPHYSEAL DYSPLASIA, SENSORINEURAL HEARING LOSS, IMPAIRED INTELLECTUAL DEVELOPMENT, AND LEBER CONGENITAL AMAUROSIS
gene_symbol: SIX6
disease_id: OMIM:212550
disease_name: OPTIC DISC ANOMALIES WITH RETINAL AND/OR MACULAR DYSTROPHY
gene_symbol: AIPL1
disease_id: OMIM:604393
disease_name: LEBER CONGENITAL AMAUROSIS 4
gene_symbol: BBS5
disease_id: OMIM:615983
disease_name: BARDET-BIEDL SYNDROME 5
gene_symbol: ATF6
disease_id: OMIM:616517
disease_name: ACHROMATOPSIA 7
gene_symbol: NR2E3
disease_id: OMIM:611131
disease_name: RETINITIS PIGMENTOSA 37
gene_symbol: BEST1
disease_id: ORPHA:1243
disease_name: Best vitelliform macular dystrophy
BMD
BVMD
Best disease
Best macular dystrophy
Early-onset vitelliform macular dystrophy
Juvenile-onset vitelliform macular dystrophy
Polymorphic vitelline macular degeneration
Vitelliform macular dystrophy type 2
gene_symbol: BEST1
disease_id: OMIM:153700
disease_name: MACULAR DYSTROPHY, VITELLIFORM, 2
gene_symbol: TNFRSF11B
disease_id: OMIM:239000
disease_name: PAGET DISEASE OF BONE 5, JUVENILE-ONSET
gene_symbol: HLA-A
disease_id: ORPHA:179
disease_name: Birdshot chorioretinopathy
Birdshot chorioretinitis
Birdshot retinochoroiditis
Birdshot retinochoroidopathy
Vitiliginous choroiditis
gene_symbol: SH3BP2
disease_id: OMIM:118400
disease_name: CHERUBISM