Phenotype: Pigmentary retinopathy (HP:0000580)
Associated genes and diseases:
gene_symbol: ERCC6
disease_id: OMIM:133540
disease_name: COCKAYNE SYNDROME B
gene_symbol: ERCC6
disease_id: ORPHA:90321
disease_name: Cockayne syndrome type 1
Cockayne syndrome type I
gene_symbol: CTNS
disease_id: OMIM:219800
disease_name: CYSTINOSIS, NEPHROPATHIC
gene_symbol: CTNS
disease_id: ORPHA:411629
disease_name: Infantile nephropathic cystinosis
gene_symbol: MT-TF
disease_id: ORPHA:550
disease_name: MELAS
Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes
Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes
Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes
gene_symbol: MT-TQ
disease_id: ORPHA:550
disease_name: MELAS
Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes
Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes
Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes
gene_symbol: MT-CO1
disease_id: ORPHA:550
disease_name: MELAS
Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes
Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes
Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes
gene_symbol: MT-CO2
disease_id: ORPHA:550
disease_name: MELAS
Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes
Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes
Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes
gene_symbol: MT-CO3
disease_id: ORPHA:550
disease_name: MELAS
Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes
Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes
Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes
gene_symbol: MT-TW
disease_id: ORPHA:550
disease_name: MELAS
Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes
Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes
Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes
gene_symbol: MT-TW
disease_id: ORPHA:255210
disease_name: Mitochondrial DNA-associated Leigh syndrome
MILS
Maternally-inherited Leigh disease
Maternally-inherited infantile subacute necrotizing encephalopathy
mtDNA-associated Leigh syndrome
gene_symbol: MT-ND5
disease_id: ORPHA:550
disease_name: MELAS
Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes
Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes
Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes
gene_symbol: MT-ND5
disease_id: ORPHA:255210
disease_name: Mitochondrial DNA-associated Leigh syndrome
MILS
Maternally-inherited Leigh disease
Maternally-inherited infantile subacute necrotizing encephalopathy
mtDNA-associated Leigh syndrome
gene_symbol: MT-ND6
disease_id: ORPHA:550
disease_name: MELAS
Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes
Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes
Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes
gene_symbol: MT-ND6
disease_id: ORPHA:255210
disease_name: Mitochondrial DNA-associated Leigh syndrome
MILS
Maternally-inherited Leigh disease
Maternally-inherited infantile subacute necrotizing encephalopathy
mtDNA-associated Leigh syndrome
gene_symbol: MT-ND1
disease_id: ORPHA:550
disease_name: MELAS
Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes
Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes
Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes
gene_symbol: MT-ND1
disease_id: ORPHA:255210
disease_name: Mitochondrial DNA-associated Leigh syndrome
MILS
Maternally-inherited Leigh disease
Maternally-inherited infantile subacute necrotizing encephalopathy
mtDNA-associated Leigh syndrome
gene_symbol: MT-ND4
disease_id: ORPHA:550
disease_name: MELAS
Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes
Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes
Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes
gene_symbol: MT-ND4
disease_id: ORPHA:255210
disease_name: Mitochondrial DNA-associated Leigh syndrome
MILS
Maternally-inherited Leigh disease
Maternally-inherited infantile subacute necrotizing encephalopathy
mtDNA-associated Leigh syndrome
gene_symbol: MT-TL1
disease_id: ORPHA:550
disease_name: MELAS
Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes
Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes
Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes
gene_symbol: MT-TL1
disease_id: ORPHA:255210
disease_name: Mitochondrial DNA-associated Leigh syndrome
MILS
Maternally-inherited Leigh disease
Maternally-inherited infantile subacute necrotizing encephalopathy
mtDNA-associated Leigh syndrome
gene_symbol: MT-TL1
disease_id: ORPHA:480
disease_name: Kearns-Sayre syndrome
gene_symbol: MT-TS1
disease_id: ORPHA:550
disease_name: MELAS
Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes
Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes
Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes
gene_symbol: MT-TS1
disease_id: OMIM:220110
disease_name: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1
gene_symbol: MT-TS2
disease_id: ORPHA:550
disease_name: MELAS
Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes
Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes
Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes
gene_symbol: MT-TH
disease_id: ORPHA:550
disease_name: MELAS
Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes
Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes
Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes
gene_symbol: CHM
disease_id: OMIM:303100
disease_name: CHOROIDEREMIA
gene_symbol: NCAPG2
disease_id: OMIM:618460
disease_name: KHAN-KHAN-KATSANIS SYNDROME
gene_symbol: COX10
disease_id: OMIM:220110
disease_name: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1
gene_symbol: SCO2
disease_id: OMIM:220110
disease_name: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1
gene_symbol: MT-TN
disease_id: OMIM:220110
disease_name: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1
gene_symbol: SCO1
disease_id: OMIM:220110
disease_name: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1
gene_symbol: FASTKD2
disease_id: OMIM:220110
disease_name: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1
gene_symbol: TACO1
disease_id: OMIM:220110
disease_name: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1
gene_symbol: SURF1
disease_id: OMIM:220110
disease_name: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1
gene_symbol: COX6B1
disease_id: OMIM:220110
disease_name: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1
gene_symbol: COX15
disease_id: OMIM:220110
disease_name: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1
gene_symbol: BBS2
disease_id: OMIM:616562
disease_name: RETINITIS PIGMENTOSA 74
gene_symbol: RRM2B
disease_id: ORPHA:329336
disease_name: Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy
Adult-onset CPEO with mitochondrial myopathy
gene_symbol: RRM2B
disease_id: ORPHA:480
disease_name: Kearns-Sayre syndrome
gene_symbol: RNASEH1
disease_id: ORPHA:329336
disease_name: Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy
Adult-onset CPEO with mitochondrial myopathy
gene_symbol: RHO
disease_id: OMIM:613731
disease_name: RETINITIS PIGMENTOSA 4
gene_symbol: RHO
disease_id: ORPHA:52427
disease_name: Retinitis punctata albescens
RPA
gene_symbol: COA8
disease_id: ORPHA:436271
disease_name: Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy
gene_symbol: AMACR
disease_id: OMIM:614307
disease_name: ALPHA-METHYLACYL-CoA RACEMASE DEFICIENCY
gene_symbol: AMACR
disease_id: ORPHA:79095
disease_name: Congenital bile acid synthesis defect type 4
2-methylacyl-CoA racemase deficiency
AMACR deficiency
Alpha-methyl-acyl-CoA racemase deficiency
BASD4
Liver disease-retinitis pigmentosa-polyneuropathy-epilepsy syndrome
gene_symbol: PEX5
disease_id: OMIM:214110
disease_name: PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER)
gene_symbol: ROM1
disease_id: OMIM:608133
disease_name: RETINITIS PIGMENTOSA 7
gene_symbol: PRPH2
disease_id: OMIM:608133
disease_name: RETINITIS PIGMENTOSA 7
gene_symbol: PRPH2
disease_id: ORPHA:52427
disease_name: Retinitis punctata albescens
RPA
gene_symbol: ERCC8
disease_id: ORPHA:90321
disease_name: Cockayne syndrome type 1
Cockayne syndrome type I
gene_symbol: ERCC8
disease_id: OMIM:216400
disease_name: COCKAYNE SYNDROME A
gene_symbol: ERCC4
disease_id: ORPHA:90321
disease_name: Cockayne syndrome type 1
Cockayne syndrome type I
gene_symbol: MT-ND2
disease_id: ORPHA:255210
disease_name: Mitochondrial DNA-associated Leigh syndrome
MILS
Maternally-inherited Leigh disease
Maternally-inherited infantile subacute necrotizing encephalopathy
mtDNA-associated Leigh syndrome
gene_symbol: MT-ND3
disease_id: ORPHA:255210
disease_name: Mitochondrial DNA-associated Leigh syndrome
MILS
Maternally-inherited Leigh disease
Maternally-inherited infantile subacute necrotizing encephalopathy
mtDNA-associated Leigh syndrome
gene_symbol: MT-TV
disease_id: ORPHA:255210
disease_name: Mitochondrial DNA-associated Leigh syndrome
MILS
Maternally-inherited Leigh disease
Maternally-inherited infantile subacute necrotizing encephalopathy
mtDNA-associated Leigh syndrome
gene_symbol: MT-ATP6
disease_id: ORPHA:255210
disease_name: Mitochondrial DNA-associated Leigh syndrome
MILS
Maternally-inherited Leigh disease
Maternally-inherited infantile subacute necrotizing encephalopathy
mtDNA-associated Leigh syndrome
gene_symbol: MT-TK
disease_id: ORPHA:255210
disease_name: Mitochondrial DNA-associated Leigh syndrome
MILS
Maternally-inherited Leigh disease
Maternally-inherited infantile subacute necrotizing encephalopathy
mtDNA-associated Leigh syndrome
gene_symbol: RLBP1
disease_id: ORPHA:85128
disease_name: Bothnia retinal dystrophy
Västerbotten dystrophy
gene_symbol: RLBP1
disease_id: ORPHA:52427
disease_name: Retinitis punctata albescens
RPA
gene_symbol: NDUFAF1
disease_id: OMIM:618234
disease_name: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 11
gene_symbol: RNU4ATAC
disease_id: OMIM:226960
disease_name: LOWRY-WOOD SYNDROME
gene_symbol: IMPG2
disease_id: OMIM:613581
disease_name: RETINITIS PIGMENTOSA 56
gene_symbol: PROM1
disease_id: OMIM:612095
disease_name: RETINITIS PIGMENTOSA 41
gene_symbol: PNPLA6
disease_id: OMIM:275400
disease_name: OLIVER-MCFARLANE SYNDROME
gene_symbol: PNPLA6
disease_id: ORPHA:3363
disease_name: Trichomegaly-retina pigmentary degeneration-dwarfism syndrome
Long eyelashes-intellectual disability syndrome
Oliver-McFarlane syndrome
gene_symbol: PNPLA6
disease_id: OMIM:245800
disease_name: LAURENCE-MOON SYNDROME
gene_symbol: NGLY1
disease_id: ORPHA:404454
disease_name: Alacrimia-choreoathetosis-liver dysfunction syndrome
NGLY1 deficiency
NGLY1-CDDG
gene_symbol: PEX1
disease_id: OMIM:214100
disease_name: PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER)
gene_symbol: ATXN7
disease_id: OMIM:164500
disease_name: SPINOCEREBELLAR ATAXIA 7
gene_symbol: GMPPB
disease_id: ORPHA:370968
disease_name: Congenital muscular dystrophy with intellectual disability
CMD with intellectual disability
CMD-MR
gene_symbol: FKRP
disease_id: ORPHA:370968
disease_name: Congenital muscular dystrophy with intellectual disability
CMD with intellectual disability
CMD-MR
gene_symbol: POMT2
disease_id: ORPHA:370968
disease_name: Congenital muscular dystrophy with intellectual disability
CMD with intellectual disability
CMD-MR
gene_symbol: POMT2
disease_id: OMIM:613156
disease_name: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 2
gene_symbol: LARGE1
disease_id: ORPHA:370968
disease_name: Congenital muscular dystrophy with intellectual disability
CMD with intellectual disability
CMD-MR
gene_symbol: LARGE1
disease_id: OMIM:613154
disease_name: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 6
gene_symbol: POMT1
disease_id: ORPHA:370968
disease_name: Congenital muscular dystrophy with intellectual disability
CMD with intellectual disability
CMD-MR
gene_symbol: FLVCR1
disease_id: ORPHA:88628
disease_name: Posterior column ataxia-retinitis pigmentosa syndrome
Autosomal recessive posterior column ataxia and retinitis pigmentosa
PCARP
gene_symbol: FLVCR1
disease_id: OMIM:609033
disease_name: POSTERIOR COLUMN ATAXIA WITH RETINITIS PIGMENTOSA
gene_symbol: COX8A
disease_id: OMIM:619059
disease_name: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 15
gene_symbol: MSTO1
disease_id: OMIM:617675
disease_name: MYOPATHY, MITOCHONDRIAL, AND ATAXIA
gene_symbol: MSTO1
disease_id: ORPHA:502423
disease_name: Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome
Mitochondrial myopathy-cerebellar atrophy-pigmentary retinopathy syndrome
gene_symbol: MPV17
disease_id: OMIM:256810
disease_name: MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE)
gene_symbol: HKDC1
disease_id: OMIM:619614
disease_name: RETINITIS PIGMENTOSA 92
gene_symbol: SAG
disease_id: OMIM:613758
disease_name: RETINITIS PIGMENTOSA 47
gene_symbol: GUCY2D
disease_id: OMIM:215500
disease_name: CHOROIDAL DYSTROPHY, CENTRAL AREOLAR, 1
gene_symbol: GUCY2D
disease_id: OMIM:204000
disease_name: LEBER CONGENITAL AMAUROSIS 1
gene_symbol: ALMS1
disease_id: OMIM:203800
disease_name: ALSTROM SYNDROME
gene_symbol: RP2
disease_id: OMIM:312600
disease_name: RETINITIS PIGMENTOSA 2
gene_symbol: VPS13B
disease_id: OMIM:216550
disease_name: COHEN SYNDROME
gene_symbol: AHI1
disease_id: OMIM:608629
disease_name: JOUBERT SYNDROME 3
gene_symbol: PUS1
disease_id: OMIM:600462
disease_name: MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 1
gene_symbol: NR2E3
disease_id: OMIM:268100
disease_name: ENHANCED S-CONE SYNDROME
gene_symbol: NR2E3
disease_id: OMIM:611131
disease_name: RETINITIS PIGMENTOSA 37
gene_symbol: TTPA
disease_id: ORPHA:96
disease_name: Ataxia with vitamin E deficiency
AVED
Ataxia with isolated vitamin E deficiency
Familial isolated vitamin E deficiency
Friedreich-like ataxia
Isolated vitamin E deficiency
gene_symbol: WFS1
disease_id: OMIM:222300
disease_name: WOLFRAM SYNDROME 1
gene_symbol: CAV1
disease_id: OMIM:606721
disease_name: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 7
gene_symbol: MECR
disease_id: OMIM:617282
disease_name: DYSTONIA, CHILDHOOD-ONSET, WITH OPTIC ATROPHY AND BASAL GANGLIA ABNORMALITIES
gene_symbol: KIZ
disease_id: OMIM:615780
disease_name: RETINITIS PIGMENTOSA 69
gene_symbol: TRIM37
disease_id: OMIM:253250
disease_name: MULIBREY NANISM
gene_symbol: ERCC3
disease_id: OMIM:610651
disease_name: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP B
gene_symbol: MKKS
disease_id: OMIM:605231
disease_name: BARDET-BIEDL SYNDROME 6
gene_symbol: NDUFB11
disease_id: OMIM:309801
disease_name: LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 1
gene_symbol: COX7B
disease_id: OMIM:309801
disease_name: LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 1
gene_symbol: HCCS
disease_id: OMIM:309801
disease_name: LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 1
gene_symbol: NOTCH2NLC
disease_id: OMIM:619473
disease_name: OCULOPHARYNGODISTAL MYOPATHY 3
gene_symbol: ISCA1
disease_id: OMIM:617613
disease_name: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 5
gene_symbol: CYP4V2
disease_id: ORPHA:41751
disease_name: Bietti crystalline dystrophy
BCD
Bietti crystalline corneoretinal dystrophy
Bietti crystalline retinopathy
gene_symbol: PEX2
disease_id: OMIM:614866
disease_name: PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER)
gene_symbol: PDE6A
disease_id: OMIM:613810
disease_name: RETINITIS PIGMENTOSA 43
gene_symbol: HADHB
disease_id: ORPHA:746
disease_name: Mitochondrial trifunctional protein deficiency
TFP deficiency
TFPD
gene_symbol: HADHA
disease_id: ORPHA:746
disease_name: Mitochondrial trifunctional protein deficiency
TFP deficiency
TFPD
gene_symbol: HADHA
disease_id: OMIM:609015
disease_name: MITOCHONDRIAL TRIFUNCTIONAL PROTEIN DEFICIENCY
gene_symbol: HADHA
disease_id: OMIM:609016
disease_name: LONG-CHAIN 3-HYDROXYACYL-CoA DEHYDROGENASE DEFICIENCY
gene_symbol: UNC119
disease_id: OMIM:620342
disease_name: CONE-ROD DYSTROPHY 24
gene_symbol: PANK2
disease_id: OMIM:234200
disease_name: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1
gene_symbol: PANK2
disease_id: ORPHA:216866
disease_name: Classic pantothenate kinase-associated neurodegeneration
NBIA1, classic form
Neurodegeneration with brain iron accumulation type 1, classic form
PKAN, classic form
gene_symbol: RDH5
disease_id: ORPHA:52427
disease_name: Retinitis punctata albescens
RPA
gene_symbol: ARL13B
disease_id: OMIM:612291
disease_name: JOUBERT SYNDROME 8
gene_symbol: LAMB2
disease_id: OMIM:614199
disease_name: NEPHROTIC SYNDROME, TYPE 5, WITH OR WITHOUT OCULAR ABNORMALITIES
gene_symbol: IDH3B
disease_id: OMIM:612572
disease_name: RETINITIS PIGMENTOSA 46
gene_symbol: RPE65
disease_id: OMIM:204100
disease_name: LEBER CONGENITAL AMAUROSIS 2
gene_symbol: RPE65
disease_id: OMIM:618697
disease_name: RETINITIS PIGMENTOSA 87 WITH CHOROIDAL INVOLVEMENT
gene_symbol: JAG1
disease_id: OMIM:118450
disease_name: ALAGILLE SYNDROME 1
gene_symbol: TIMP3
disease_id: ORPHA:59181
disease_name: Sorsby pseudoinflammatory fundus dystrophy
gene_symbol: MFSD8
disease_id: OMIM:610951
disease_name: CEROID LIPOFUSCINOSIS, NEURONAL, 7
gene_symbol: HADH
disease_id: ORPHA:71212
disease_name: Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency
Hyperinsulinemic hypoglycemia due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency
Hyperinsulinism due to SCHAD deficiency
Hyperinsulinism due to glutamodehydrogenase deficiency
SCHAD deficiency
gene_symbol: POLR3A
disease_id: ORPHA:3455
disease_name: Wiedemann-Rautenstrauch syndrome
Neonatal progeroid syndrome
gene_symbol: MED12
disease_id: OMIM:301068
disease_name: HARDIKAR SYNDROME
gene_symbol: MED12
disease_id: ORPHA:1415
disease_name: Hardikar syndrome
Cholestasis-pigmentary retinopathy-cleft palate syndrome
HDKR
MED12-related Hardikar syndrome
gene_symbol: ACOX1
disease_id: OMIM:264470
disease_name: PEROXISOMAL ACYL-CoA OXIDASE DEFICIENCY
gene_symbol: MORC2
disease_id: OMIM:619090
disease_name: DEVELOPMENTAL DELAY, IMPAIRED GROWTH, DYSMORPHIC FACIES, AND AXONAL NEUROPATHY
gene_symbol: GSS
disease_id: OMIM:266130
disease_name: GLUTATHIONE SYNTHETASE DEFICIENCY
gene_symbol: ABCA4
disease_id: OMIM:604116
disease_name: CONE-ROD DYSTROPHY 3
gene_symbol: AIRE
disease_id: OMIM:240300
disease_name: AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA
gene_symbol: SDHA
disease_id: ORPHA:3208
disease_name: Isolated succinate-CoQ reductase deficiency
Isolated mitochondrial respiratory chain complex II deficiency
Isolated succinate dehydrogenase deficiency
Isolated succinate-coenzyme Q reductase deficiency
Isolated succinate-ubiquinone reductase deficiency
gene_symbol: SDHA
disease_id: OMIM:252011
disease_name: MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 1
gene_symbol: SDHB
disease_id: ORPHA:3208
disease_name: Isolated succinate-CoQ reductase deficiency
Isolated mitochondrial respiratory chain complex II deficiency
Isolated succinate dehydrogenase deficiency
Isolated succinate-coenzyme Q reductase deficiency
Isolated succinate-ubiquinone reductase deficiency
gene_symbol: SDHD
disease_id: ORPHA:3208
disease_name: Isolated succinate-CoQ reductase deficiency
Isolated mitochondrial respiratory chain complex II deficiency
Isolated succinate dehydrogenase deficiency
Isolated succinate-coenzyme Q reductase deficiency
Isolated succinate-ubiquinone reductase deficiency
gene_symbol: SDHAF1
disease_id: ORPHA:3208
disease_name: Isolated succinate-CoQ reductase deficiency
Isolated mitochondrial respiratory chain complex II deficiency
Isolated succinate dehydrogenase deficiency
Isolated succinate-coenzyme Q reductase deficiency
Isolated succinate-ubiquinone reductase deficiency
gene_symbol: MMACHC
disease_id: ORPHA:79282
disease_name: Methylmalonic acidemia with homocystinuria, type cblC
CblC defect
Cobalamin C defect
Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblC
Methylmalonic aciduria with homocystinuria, type cblC
gene_symbol: MMACHC
disease_id: OMIM:277400
disease_name: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE
gene_symbol: SLC24A1
disease_id: OMIM:613830
disease_name: NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1D
gene_symbol: CRB1
disease_id: OMIM:613835
disease_name: LEBER CONGENITAL AMAUROSIS 8
gene_symbol: ARL6
disease_id: OMIM:600151
disease_name: BARDET-BIEDL SYNDROME 3
gene_symbol: CLCC1
disease_id: OMIM:609913
disease_name: RETINITIS PIGMENTOSA 32
gene_symbol: MKS1
disease_id: OMIM:617121
disease_name: JOUBERT SYNDROME 28
gene_symbol: MT-ATP8
disease_id: ORPHA:480
disease_name: Kearns-Sayre syndrome
gene_symbol: ZFYVE26
disease_id: ORPHA:100996
disease_name: Autosomal recessive spastic paraplegia type 15
Hereditary spastic paraparesis type 15
Kjellin syndrome
SPG15
Spastic paraplegia-retinal degeneration syndrome
gene_symbol: BEST1
disease_id: OMIM:193220
disease_name: VITREORETINOCHOROIDOPATHY
gene_symbol: TULP1
disease_id: OMIM:613843
disease_name: LEBER CONGENITAL AMAUROSIS 15
gene_symbol: PRDX1
disease_id: OMIM:277400
disease_name: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE
gene_symbol: USH2A
disease_id: OMIM:613809
disease_name: RETINITIS PIGMENTOSA 39
gene_symbol: USH2A
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: USH2A
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: CLRN1
disease_id: OMIM:614180
disease_name: RETINITIS PIGMENTOSA 61
gene_symbol: CLRN1
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: CLRN1
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: PRPF31
disease_id: OMIM:600138
disease_name: RETINITIS PIGMENTOSA 11
gene_symbol: PRPF31
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: PRPF31
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
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: PRPF8
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: REEP6
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: REEP6
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: REEP6
disease_id: OMIM:617304
disease_name: RETINITIS PIGMENTOSA 77
gene_symbol: ZNF513
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: ZNF513
disease_id: OMIM:613617
disease_name: RETINITIS PIGMENTOSA 58
gene_symbol: ZNF513
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: BBS1
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: BBS1
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: BBS1
disease_id: OMIM:209900
disease_name: BARDET-BIEDL SYNDROME 1
gene_symbol: CDHR1
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: CDHR1
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: CDHR1
disease_id: ORPHA:1872
disease_name: Cone rod dystrophy
gene_symbol: ARL2BP
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: ARL2BP
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: RP1
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: RP1
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: IDH3A
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: IDH3A
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
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: NEK2
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: EYS
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: EYS
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: EYS
disease_id: OMIM:602772
disease_name: RETINITIS PIGMENTOSA 25
gene_symbol: IFT88
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: SNRNP200
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: SNRNP200
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: SNRNP200
disease_id: OMIM:610359
disease_name: RETINITIS PIGMENTOSA 33
gene_symbol: CA4
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: CA4
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: HGSNAT
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: HGSNAT
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: HGSNAT
disease_id: OMIM:616544
disease_name: RETINITIS PIGMENTOSA 73
gene_symbol: AHR
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: AHR
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: IMPDH1
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: IMPDH1
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: IMPDH1
disease_id: OMIM:180105
disease_name: RETINITIS PIGMENTOSA 10
gene_symbol: TTC8
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: TTC8
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: TTC8
disease_id: OMIM:613464
disease_name: RETINITIS PIGMENTOSA 51
gene_symbol: RPGR
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: RPGR
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: RPGR
disease_id: ORPHA:1872
disease_name: Cone rod dystrophy
gene_symbol: RPGR
disease_id: OMIM:300029
disease_name: RETINITIS PIGMENTOSA 3
gene_symbol: CRX
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: CRX
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: CRX
disease_id: ORPHA:1872
disease_name: Cone rod dystrophy
gene_symbol: CRX
disease_id: OMIM:120970
disease_name: CONE-ROD DYSTROPHY 2
gene_symbol: PDE6G
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: PDE6G
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
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: IFT172
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: IFT43
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: IFT43
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: IFT43
disease_id: OMIM:617871
disease_name: RETINITIS PIGMENTOSA 81
gene_symbol: MAK
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: MAK
disease_id: OMIM:614181
disease_name: RETINITIS PIGMENTOSA 62
gene_symbol: MAK
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: FSCN2
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: FSCN2
disease_id: OMIM:607921
disease_name: RETINITIS PIGMENTOSA 30
gene_symbol: FSCN2
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: CERKL
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: CERKL
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: KIAA1549
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: KIAA1549
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
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: TUB
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: PRPF6
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: PRPF6
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: PRPF6
disease_id: OMIM:613983
disease_name: RETINITIS PIGMENTOSA 60
gene_symbol: COQ8B
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: MERTK
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: MERTK
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: SLC7A14
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: SLC7A14
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: SLC7A14
disease_id: OMIM:615725
disease_name: RETINITIS PIGMENTOSA 68
gene_symbol: PRCD
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: PRCD
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: PRCD
disease_id: OMIM:610599
disease_name: RETINITIS PIGMENTOSA 36
gene_symbol: ARHGEF18
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: ARHGEF18
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: RBP3
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: RBP3
disease_id: OMIM:615233
disease_name: RETINITIS PIGMENTOSA 66
gene_symbol: RBP3
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: RP9
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: RP9
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: RP9
disease_id: OMIM:180104
disease_name: RETINITIS PIGMENTOSA 9
gene_symbol: LRAT
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: LRAT
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: LRAT
disease_id: ORPHA:364055
disease_name: Severe early-childhood-onset retinal dystrophy
EOSRD
Early-onset severe retinal dystrophy
SECORD
gene_symbol: FAM161A
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: FAM161A
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: FAM161A
disease_id: OMIM:606068
disease_name: RETINITIS PIGMENTOSA 28
gene_symbol: SPATA7
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: SPATA7
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: SPATA7
disease_id: ORPHA:364055
disease_name: Severe early-childhood-onset retinal dystrophy
EOSRD
Early-onset severe retinal dystrophy
SECORD
gene_symbol: POMGNT1
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: POMGNT1
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: POMGNT1
disease_id: OMIM:617123
disease_name: RETINITIS PIGMENTOSA 76
gene_symbol: ZNF408
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: ZNF408
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: ZNF408
disease_id: OMIM:616469
disease_name: RETINITIS PIGMENTOSA 72
gene_symbol: ARL3
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: ARL3
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: ARL3
disease_id: OMIM:618173
disease_name: RETINITIS PIGMENTOSA 83
gene_symbol: TOPORS
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: TOPORS
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: PRPF4
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: PRPF4
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: RDH12
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: RDH12
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: RDH12
disease_id: OMIM:612712
disease_name: LEBER CONGENITAL AMAUROSIS 13
gene_symbol: TMEM216
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: TMEM216
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: CC2D2A
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: CC2D2A
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: OFD1
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: OFD1
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: SCAPER
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: SCAPER
disease_id: OMIM:618195
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER AND RETINITIS PIGMENTOSA
gene_symbol: SCAPER
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: IFT140
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: IFT140
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: IFT140
disease_id: OMIM:617781
disease_name: RETINITIS PIGMENTOSA 80
gene_symbol: GUCA1B
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: GUCA1B
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: CNGA1
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: CNGA1
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: CNGA1
disease_id: OMIM:613756
disease_name: RETINITIS PIGMENTOSA 49
gene_symbol: CNGB1
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: CNGB1
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: CNGB1
disease_id: OMIM:613767
disease_name: RETINITIS PIGMENTOSA 45
gene_symbol: AGBL5
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: AGBL5
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: AGBL5
disease_id: OMIM:617023
disease_name: RETINITIS PIGMENTOSA 75
gene_symbol: PCARE
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: PCARE
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: PCARE
disease_id: OMIM:613428
disease_name: RETINITIS PIGMENTOSA 54
gene_symbol: DHX38
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: DHX38
disease_id: OMIM:618220
disease_name: RETINITIS PIGMENTOSA 84
gene_symbol: DHX38
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: RGR
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: RGR
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: PRPF3
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: PRPF3
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: KLHL7
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: KLHL7
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: IMPG1
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: IMPG1
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
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: RP1L1
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: PDE6B
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: PDE6B
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: PDE6B
disease_id: OMIM:613801
disease_name: RETINITIS PIGMENTOSA 40
gene_symbol: SEMA4A
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: SEMA4A
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: SEMA4A
disease_id: ORPHA:1872
disease_name: Cone rod dystrophy
gene_symbol: SEMA4A
disease_id: OMIM:610283
disease_name: CONE-ROD DYSTROPHY 10
gene_symbol: NRL
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: NRL
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: NRL
disease_id: OMIM:613750
disease_name: RETINITIS PIGMENTOSA 27
gene_symbol: CFAP418
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: CFAP418
disease_id: OMIM:614500
disease_name: CONE-ROD DYSTROPHY 16
gene_symbol: CFAP418
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: CFAP418
disease_id: ORPHA:1872
disease_name: Cone rod dystrophy
gene_symbol: DHDDS
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: DHDDS
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: ARSG
disease_id: OMIM:618144
disease_name: USHER SYNDROME, TYPE IV
gene_symbol: ARSG
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: LZTFL1
disease_id: OMIM:615994
disease_name: BARDET-BIEDL SYNDROME 17
gene_symbol: LZTFL1
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: RAX2
disease_id: OMIM:620102
disease_name: RETINITIS PIGMENTOSA 95
gene_symbol: RAX2
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: RAX2
disease_id: ORPHA:1872
disease_name: Cone rod dystrophy
gene_symbol: WHRN
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: NR2F1
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: VCAN
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: OPN1SW
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: KCNJ13
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: PRPS1
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: GPR179
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: LRIT3
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: CNNM4
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: CNNM4
disease_id: OMIM:217080
disease_name: JALILI SYNDROME
gene_symbol: CEP78
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: TMEM126A
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: COL2A1
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: TRIM32
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: GUCA1A
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: GUCA1A
disease_id: ORPHA:1872
disease_name: Cone rod dystrophy
gene_symbol: CTNNA1
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: RBP4
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: TRAF3IP1
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: CABP4
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: MYO7A
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: TRNT1
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: TRNT1
disease_id: OMIM:616959
disease_name: RETINITIS PIGMENTOSA AND ERYTHROCYTIC MICROCYTOSIS
gene_symbol: SLC19A2
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: GNB3
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: KIF11
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: PRDM13
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: CACNA1F
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: CACNA1F
disease_id: ORPHA:1872
disease_name: Cone rod dystrophy
gene_symbol: ELOVL1
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: BBIP1
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: DHX40
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: IQCB1
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: RIMS2
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: P4HA2
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: ABHD12
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: EFEMP1
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: CEP19
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: NPHP4
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: BBS4
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: BCOR
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: PPT1
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: GNAT1
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: SDCCAG8
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: TREX1
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: CDH3
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: ADGRA3
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: NMNAT1
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: NMNAT1
disease_id: ORPHA:1872
disease_name: Cone rod dystrophy
gene_symbol: NMNAT1
disease_id: OMIM:608553
disease_name: LEBER CONGENITAL AMAUROSIS 9
gene_symbol: NEUROD1
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: TMEM237
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: PDZD7
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: USH1C
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: CEP290
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: EMC1
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: GDPD1
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: OPA1
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: TMEM67
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: ESPN
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: WDR19
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: ADIPOR1
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: SF3B2
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: ADGRV1
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: ACO2
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: ATF6
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: ATF6
disease_id: ORPHA:1872
disease_name: Cone rod dystrophy
gene_symbol: CAPN5
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: CTSD
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: IFT81
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: DYNC2H1
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: NPHP1
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: HMCN1
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: USH1G
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: OTX2
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: RAB28
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: RAB28
disease_id: ORPHA:1872
disease_name: Cone rod dystrophy
gene_symbol: BBS12
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: KCNV2
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: TEAD1
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: MTRFR
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: SMG8
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: CNGA3
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: CNGA3
disease_id: ORPHA:1872
disease_name: Cone rod dystrophy
gene_symbol: CACNA2D4
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: CACNA2D4
disease_id: ORPHA:1872
disease_name: Cone rod dystrophy
gene_symbol: PEX7
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: ARR3
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: LRPAP1
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: RTN4IP1
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: ABCC6
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: ZNF644
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: MAPKAPK3
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: TUBGCP4
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: OAT
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: PDE6C
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: SLC25A46
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: DTHD1
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: TIMM8A
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: TUBGCP6
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: PEX6
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: KIF3B
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: CWC27
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: TTLL5
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: TTLL5
disease_id: ORPHA:1872
disease_name: Cone rod dystrophy
gene_symbol: FZD4
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: CPSF1
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: CPLANE1
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: CEP250
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: POC1B
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: POC1B
disease_id: ORPHA:1872
disease_name: Cone rod dystrophy
gene_symbol: POC1B
disease_id: OMIM:615973
disease_name: CONE-ROD DYSTROPHY 20
gene_symbol: PRIMPOL
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: HARS1
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: ALPK1
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: PDE6H
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: CNGB3
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: ZNF423
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: AIPL1
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: AIPL1
disease_id: ORPHA:1872
disease_name: Cone rod dystrophy
gene_symbol: TSPAN12
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: PLK4
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: GRK1
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: MTTP
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: GNAT2
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: TRPM1
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: NBAS
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: ADAM9
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: ADAM9
disease_id: ORPHA:1872
disease_name: Cone rod dystrophy
gene_symbol: HK1
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: HK1
disease_id: OMIM:617460
disease_name: RETINITIS PIGMENTOSA 79
gene_symbol: BBS9
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: BBS9
disease_id: OMIM:615986
disease_name: BARDET-BIEDL SYNDROME 9
gene_symbol: USP45
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: PAX6
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: TUBB4B
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: LCA5
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: LCA5
disease_id: ORPHA:364055
disease_name: Severe early-childhood-onset retinal dystrophy
EOSRD
Early-onset severe retinal dystrophy
SECORD
gene_symbol: P3H2
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: CFAP410
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: CFAP410
disease_id: OMIM:617547
disease_name: RETINAL DYSTROPHY WITH OR WITHOUT MACULAR STAPHYLOMA
gene_symbol: CFAP410
disease_id: ORPHA:1872
disease_name: Cone rod dystrophy
gene_symbol: PDSS1
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: FOXE3
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: SIX6
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: RD3
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: RDH11
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: RDH11
disease_id: OMIM:616108
disease_name: RETINAL DYSTROPHY, JUVENILE CATARACTS, AND SHORT STATURE SYNDROME
gene_symbol: PGK1
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: RCBTB1
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: EXOSC2
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: RGS9
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: CLUAP1
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: GRM6
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: GRM6
disease_id: OMIM:257270
disease_name: NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1B
gene_symbol: PAX2
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: PHYH
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: HMX1
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: PXDN
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: YPEL2
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: IFT27
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: ADAMTS18
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: INPP5E
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: SAMD11
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: CEP164
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: PCDH15
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: CCT2
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: GDF6
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: WDPCP
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: PCYT1A
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: IFT74
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: NDP
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: CIB2
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: LRP5
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: C1QTNF5
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: SLC39A5
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: GNPTG
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: OPA3
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: PITPNM3
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: PITPNM3
disease_id: ORPHA:1872
disease_name: Cone rod dystrophy
gene_symbol: SPP2
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: BMP4
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: CLN3
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: INVS
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: MVK
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: ITM2B
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: ABCB6
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: MFRP
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: MFRP
disease_id: OMIM:611040
disease_name: MICROPHTHALMIA, ISOLATED 5
gene_symbol: RIMS1
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: RIMS1
disease_id: ORPHA:1872
disease_name: Cone rod dystrophy
gene_symbol: BBS7
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: PLA2G5
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: CDH23
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: AFG3L2
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: RPGRIP1L
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: LAMA1
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: NYX
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: NPHP3
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: CEP41
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: RGS9BP
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: SLC4A7
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: COL9A1
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: COL11A1
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: MFN2
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: RS1
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: VWA8
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: CSPP1
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: RPGRIP1
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: RPGRIP1
disease_id: ORPHA:1872
disease_name: Cone rod dystrophy
gene_symbol: RPGRIP1
disease_id: OMIM:613826
disease_name: LEBER CONGENITAL AMAUROSIS 6
gene_symbol: RPGRIP1
disease_id: OMIM:608194
disease_name: CONE-ROD DYSTROPHY 13
gene_symbol: ELOVL4
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: COL9A2
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: BBS10
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: SRD5A3
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: BBS5
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: BBS5
disease_id: OMIM:615983
disease_name: BARDET-BIEDL SYNDROME 5
gene_symbol: POC5
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: OR2W3
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: DRAM2
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: DRAM2
disease_id: ORPHA:1872
disease_name: Cone rod dystrophy
gene_symbol: CFH
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: ASRGL1
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: MIR204
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: ACBD5
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: OPN1LW
disease_id: ORPHA:1872
disease_name: Cone rod dystrophy
gene_symbol: OPN1MW
disease_id: ORPHA:1872
disease_name: Cone rod dystrophy
gene_symbol: UBAP1L
disease_id: ORPHA:1872
disease_name: Cone rod dystrophy
gene_symbol: TLCD3B
disease_id: ORPHA:1872
disease_name: Cone rod dystrophy
gene_symbol: CCDC28B
disease_id: OMIM:209900
disease_name: BARDET-BIEDL SYNDROME 1
gene_symbol: PISD
disease_id: OMIM:618889
disease_name: LIBERFARB SYNDROME