Phenotype: Abnormal visual electrophysiology (HP:0030453)
Associated genes and diseases:
gene_symbol: USH2A
disease_id: OMIM:613809
disease_name: RETINITIS PIGMENTOSA 39
gene_symbol: USH2A
disease_id: ORPHA:231178
disease_name: Usher syndrome type 2
USH2
gene_symbol: USH2A
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: KCNJ13
disease_id: ORPHA:65
disease_name: Leber congenital amaurosis
Amaurosis congenita of Leber
gene_symbol: RD3
disease_id: ORPHA:65
disease_name: Leber congenital amaurosis
Amaurosis congenita of Leber
gene_symbol: RDH12
disease_id: ORPHA:65
disease_name: Leber congenital amaurosis
Amaurosis congenita of Leber
gene_symbol: RDH12
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: CRX
disease_id: ORPHA:65
disease_name: Leber congenital amaurosis
Amaurosis congenita of Leber
gene_symbol: CRX
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: CRX
disease_id: OMIM:120970
disease_name: CONE-ROD DYSTROPHY 2
gene_symbol: NMNAT1
disease_id: ORPHA:65
disease_name: Leber congenital amaurosis
Amaurosis congenita of Leber
gene_symbol: RPGRIP1
disease_id: ORPHA:65
disease_name: Leber congenital amaurosis
Amaurosis congenita of Leber
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: CEP290
disease_id: ORPHA:65
disease_name: Leber congenital amaurosis
Amaurosis congenita of Leber
gene_symbol: CEP290
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: TUBB4B
disease_id: ORPHA:65
disease_name: Leber congenital amaurosis
Amaurosis congenita of Leber
gene_symbol: IFT140
disease_id: ORPHA:65
disease_name: Leber congenital amaurosis
Amaurosis congenita of Leber
gene_symbol: IFT140
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: USP45
disease_id: ORPHA:65
disease_name: Leber congenital amaurosis
Amaurosis congenita of Leber
gene_symbol: RPE65
disease_id: ORPHA:65
disease_name: Leber congenital amaurosis
Amaurosis congenita of Leber
gene_symbol: RPE65
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: CRB1
disease_id: ORPHA:65
disease_name: Leber congenital amaurosis
Amaurosis congenita of Leber
gene_symbol: CRB1
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: PCYT1A
disease_id: ORPHA:65
disease_name: Leber congenital amaurosis
Amaurosis congenita of Leber
gene_symbol: IQCB1
disease_id: ORPHA:65
disease_name: Leber congenital amaurosis
Amaurosis congenita of Leber
gene_symbol: GDF6
disease_id: ORPHA:65
disease_name: Leber congenital amaurosis
Amaurosis congenita of Leber
gene_symbol: AIPL1
disease_id: ORPHA:65
disease_name: Leber congenital amaurosis
Amaurosis congenita of Leber
gene_symbol: GUCY2D
disease_id: ORPHA:65
disease_name: Leber congenital amaurosis
Amaurosis congenita of Leber
gene_symbol: LRAT
disease_id: ORPHA:65
disease_name: Leber congenital amaurosis
Amaurosis congenita of Leber
gene_symbol: LRAT
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: SPATA7
disease_id: ORPHA:65
disease_name: Leber congenital amaurosis
Amaurosis congenita of Leber
gene_symbol: SPATA7
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: TULP1
disease_id: ORPHA:65
disease_name: Leber congenital amaurosis
Amaurosis congenita of Leber
gene_symbol: TULP1
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: LCA5
disease_id: ORPHA:65
disease_name: Leber congenital amaurosis
Amaurosis congenita of Leber
gene_symbol: IMPDH1
disease_id: ORPHA:65
disease_name: Leber congenital amaurosis
Amaurosis congenita of Leber
gene_symbol: IMPDH1
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: BBIP1
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: IFT27
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: BBS1
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: BBS1
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: SCAPER
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: SCAPER
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: NPHP1
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: WDPCP
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: SCLT1
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: BBS9
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: CEP19
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: TRIM32
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: MKS1
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: BBS10
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: TTC8
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: TTC8
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: IFT172
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: IFT172
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: BBS2
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: BBS2
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: BBS4
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: MKKS
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: LZTFL1
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: BBS7
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: BBS12
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: SDCCAG8
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: CFAP418
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: CFAP418
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: ARL6
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: ARL6
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: BBS5
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: IFT74
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: RS1
disease_id: ORPHA:792
disease_name: X-linked retinoschisis
X-linked juvenile retinoschisis
XLRS
gene_symbol: PDZD7
disease_id: ORPHA:231178
disease_name: Usher syndrome type 2
USH2
gene_symbol: MYO7A
disease_id: ORPHA:231178
disease_name: Usher syndrome type 2
USH2
gene_symbol: MYO7A
disease_id: OMIM:276900
disease_name: USHER SYNDROME, TYPE I
gene_symbol: MYO7A
disease_id: ORPHA:231169
disease_name: Usher syndrome type 1
USH1
gene_symbol: WHRN
disease_id: ORPHA:231178
disease_name: Usher syndrome type 2
USH2
gene_symbol: ADGRV1
disease_id: ORPHA:231178
disease_name: Usher syndrome type 2
USH2
gene_symbol: REEP6
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: ROM1
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: ROM1
disease_id: OMIM:608133
disease_name: RETINITIS PIGMENTOSA 7
gene_symbol: RLBP1
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: RLBP1
disease_id: OMIM:607475
disease_name: BOTHNIA RETINAL DYSTROPHY
gene_symbol: CLRN1
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: CLRN1
disease_id: ORPHA:231183
disease_name: Usher syndrome type 3
USH3
gene_symbol: ABCA4
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: ABCA4
disease_id: OMIM:601718
disease_name: RETINITIS PIGMENTOSA 19
gene_symbol: ZNF513
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: AHI1
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: AHI1
disease_id: OMIM:608629
disease_name: JOUBERT SYNDROME 3
gene_symbol: RP1
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: IDH3A
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
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: HGSNAT
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: AHR
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: RPGR
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: PDE6G
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: PRPF31
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: IFT43
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: 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: 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: ARHGEF18
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
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: OMIM:613731
disease_name: RETINITIS PIGMENTOSA 4
gene_symbol: RP9
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: NR2E3
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: FAM161A
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: POMGNT1
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: ZNF408
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: ARL3
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: PDE6A
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: PDE6A
disease_id: OMIM:613810
disease_name: RETINITIS PIGMENTOSA 43
gene_symbol: TOPORS
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: TOPORS
disease_id: OMIM:609923
disease_name: RETINITIS PIGMENTOSA 31
gene_symbol: PROM1
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: PRPF4
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: 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: CNGB1
disease_id: OMIM:613767
disease_name: RETINITIS PIGMENTOSA 45
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: OMIM:608133
disease_name: RETINITIS PIGMENTOSA 7
gene_symbol: PCARE
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: PCARE
disease_id: OMIM:613428
disease_name: RETINITIS PIGMENTOSA 54
gene_symbol: BEST1
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: BEST1
disease_id: OMIM:153700
disease_name: MACULAR DYSTROPHY, VITELLIFORM, 2
gene_symbol: BEST1
disease_id: OMIM:613194
disease_name: RETINITIS PIGMENTOSA 50
gene_symbol: DHX38
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: IMPG1
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: RP1L1
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
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: NRL
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: PRPF8
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: GNB5
disease_id: OMIM:617173
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER WITH CARDIAC ARRHYTHMIA
gene_symbol: GNB5
disease_id: ORPHA:542306
disease_name: GNB5-related intellectual disability-cardiac arrhythmia syndrome
gene_symbol: POGZ
disease_id: OMIM:616364
disease_name: WHITE-SUTTON SYNDROME
gene_symbol: CACNA1F
disease_id: ORPHA:178333
disease_name: Åland Islands eye disease
AIED
Forsius-Eriksson syndrome
Forsius-Eriksson type ocular albinism
gene_symbol: KIF21A
disease_id: ORPHA:45358
disease_name: Congenital fibrosis of extraocular muscles
FEOM
gene_symbol: TUBB2B
disease_id: ORPHA:45358
disease_name: Congenital fibrosis of extraocular muscles
FEOM
gene_symbol: TUBA1A
disease_id: ORPHA:45358
disease_name: Congenital fibrosis of extraocular muscles
FEOM
gene_symbol: PHOX2A
disease_id: ORPHA:45358
disease_name: Congenital fibrosis of extraocular muscles
FEOM
gene_symbol: TUBB3
disease_id: ORPHA:45358
disease_name: Congenital fibrosis of extraocular muscles
FEOM
gene_symbol: COL25A1
disease_id: ORPHA:45358
disease_name: Congenital fibrosis of extraocular muscles
FEOM
gene_symbol: TRPM1
disease_id: OMIM:613216
disease_name: NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1C
gene_symbol: ACOX1
disease_id: ORPHA:2971
disease_name: Peroxisomal acyl-CoA oxidase deficiency
Pseudo-NALD
Pseudo-neonatal adrenoleukodystrophy
Pseudoadrenoleukodystrophy
gene_symbol: PIEZO2
disease_id: OMIM:108145
disease_name: ARTHROGRYPOSIS, DISTAL, TYPE 5
gene_symbol: PIEZO2
disease_id: ORPHA:1154
disease_name: Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome
Distal arthrogryposis type 5
Distal arthrogryposis type IIB
Distal arthrogryposis with ophthalmoplegia
Oculomelic amyoplasia
gene_symbol: DNAJC30
disease_id: ORPHA:104
disease_name: Leber hereditary optic neuropathy
LHON
Leber optic atrophy
gene_symbol: MT-ND1
disease_id: ORPHA:104
disease_name: Leber hereditary optic neuropathy
LHON
Leber optic atrophy
gene_symbol: MT-ND2
disease_id: ORPHA:104
disease_name: Leber hereditary optic neuropathy
LHON
Leber optic atrophy
gene_symbol: MT-ND4
disease_id: ORPHA:104
disease_name: Leber hereditary optic neuropathy
LHON
Leber optic atrophy
gene_symbol: NDUFS2
disease_id: ORPHA:104
disease_name: Leber hereditary optic neuropathy
LHON
Leber optic atrophy
gene_symbol: MT-CO1
disease_id: ORPHA:104
disease_name: Leber hereditary optic neuropathy
LHON
Leber optic atrophy
gene_symbol: MT-CO3
disease_id: ORPHA:104
disease_name: Leber hereditary optic neuropathy
LHON
Leber optic atrophy
gene_symbol: MT-CYB
disease_id: ORPHA:104
disease_name: Leber hereditary optic neuropathy
LHON
Leber optic atrophy
gene_symbol: MT-ATP6
disease_id: ORPHA:104
disease_name: Leber hereditary optic neuropathy
LHON
Leber optic atrophy
gene_symbol: MT-ND5
disease_id: ORPHA:104
disease_name: Leber hereditary optic neuropathy
LHON
Leber optic atrophy
gene_symbol: MT-ND6
disease_id: ORPHA:104
disease_name: Leber hereditary optic neuropathy
LHON
Leber optic atrophy
gene_symbol: MT-ND4L
disease_id: ORPHA:104
disease_name: Leber hereditary optic neuropathy
LHON
Leber optic atrophy
gene_symbol: CWC27
disease_id: ORPHA:166035
disease_name: Brachydactyly-short stature-retinitis pigmentosa syndrome
gene_symbol: SLC25A4
disease_id: ORPHA:1369
disease_name: Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome
Sengers syndrome
gene_symbol: TKFC
disease_id: ORPHA:1369
disease_name: Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome
Sengers syndrome
gene_symbol: AGK
disease_id: ORPHA:1369
disease_name: Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome
Sengers syndrome
gene_symbol: VSX1
disease_id: OMIM:614195
disease_name: CRANIOFACIAL ANOMALIES AND ANTERIOR SEGMENT DYSGENESIS SYNDROME
gene_symbol: CHM
disease_id: ORPHA:180
disease_name: Choroideremia
CHM
Tapetochoroidal dystrophy
gene_symbol: ZNF699
disease_id: OMIM:619488
disease_name: DEGCAGS SYNDROME
gene_symbol: CAPN5
disease_id: OMIM:193235
disease_name: VITREORETINOPATHY, NEOVASCULAR INFLAMMATORY
gene_symbol: TIMP3
disease_id: OMIM:136900
disease_name: SORSBY FUNDUS DYSTROPHY
gene_symbol: WWOX
disease_id: OMIM:616211
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 28
gene_symbol: PDE6C
disease_id: ORPHA:1871
disease_name: Progressive cone dystrophy
Cone dystrophy
gene_symbol: GNAT2
disease_id: ORPHA:1871
disease_name: Progressive cone dystrophy
Cone dystrophy
gene_symbol: CNGB3
disease_id: ORPHA:1871
disease_name: Progressive cone dystrophy
Cone dystrophy
gene_symbol: GUCA1A
disease_id: ORPHA:1871
disease_name: Progressive cone dystrophy
Cone dystrophy
gene_symbol: SSBP1
disease_id: OMIM:165510
disease_name: OPTIC ATROPHY 13 WITH RETINAL AND FOVEAL ABNORMALITIES
gene_symbol: MCOLN1
disease_id: ORPHA:578
disease_name: Mucolipidosis type IV
gene_symbol: ARSG
disease_id: ORPHA:231183
disease_name: Usher syndrome type 3
USH3
gene_symbol: MT-TS2
disease_id: ORPHA:231183
disease_name: Usher syndrome type 3
USH3
gene_symbol: HARS1
disease_id: ORPHA:231183
disease_name: Usher syndrome type 3
USH3
gene_symbol: CEP78
disease_id: ORPHA:231183
disease_name: Usher syndrome type 3
USH3
gene_symbol: PEX1
disease_id: OMIM:214100
disease_name: PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER)
gene_symbol: CEP104
disease_id: OMIM:616781
disease_name: JOUBERT SYNDROME 25
gene_symbol: USH1C
disease_id: OMIM:276900
disease_name: USHER SYNDROME, TYPE I
gene_symbol: USH1C
disease_id: ORPHA:231169
disease_name: Usher syndrome type 1
USH1
gene_symbol: TIMM8A
disease_id: OMIM:304700
disease_name: MOHR-TRANEBJAERG SYNDROME
gene_symbol: HADHA
disease_id: ORPHA:5
disease_name: Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
LCHAD deficiency
LCHADD
Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency
gene_symbol: CDH23
disease_id: ORPHA:231169
disease_name: Usher syndrome type 1
USH1
gene_symbol: USH1G
disease_id: ORPHA:231169
disease_name: Usher syndrome type 1
USH1
gene_symbol: ESPN
disease_id: ORPHA:231169
disease_name: Usher syndrome type 1
USH1
gene_symbol: CIB2
disease_id: ORPHA:231169
disease_name: Usher syndrome type 1
USH1
gene_symbol: PCDH15
disease_id: ORPHA:231169
disease_name: Usher syndrome type 1
USH1
gene_symbol: RNF216
disease_id: ORPHA:1173
disease_name: Cerebellar ataxia-hypogonadism syndrome
Gordon-Holmes syndrome
Luteinizing hormone-releasing hormone deficiency with ataxia
gene_symbol: PNPLA6
disease_id: ORPHA:1173
disease_name: Cerebellar ataxia-hypogonadism syndrome
Gordon-Holmes syndrome
Luteinizing hormone-releasing hormone deficiency with ataxia
gene_symbol: OPN1MW
disease_id: ORPHA:16
disease_name: Blue cone monochromatism
Atypical X-linked achromatopsia
Blue cone monochromacy
Color blindness, blue monocone monochromatic type
S cone monochromacy
S cone monochromatism
X-linked incomplete achromatopsia
gene_symbol: OPN1LW
disease_id: ORPHA:16
disease_name: Blue cone monochromatism
Atypical X-linked achromatopsia
Blue cone monochromacy
Color blindness, blue monocone monochromatic type
S cone monochromacy
S cone monochromatism
X-linked incomplete achromatopsia
gene_symbol: EMC1
disease_id: OMIM:616875
disease_name: CEREBELLAR ATROPHY, VISUAL IMPAIRMENT, AND PSYCHOMOTOR RETARDATION
gene_symbol: SUCLA2
disease_id: ORPHA:1933
disease_name: Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
Booth-Haworth-Dilling syndrome
Mitochondrial encephalomyopathy-aminoacidopathy syndrome
mtDNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
gene_symbol: NOTCH3
disease_id: OMIM:125310
disease_name: CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1
gene_symbol: PPT1
disease_id: OMIM:256730
disease_name: CEROID LIPOFUSCINOSIS, NEURONAL, 1
gene_symbol: HSD17B4
disease_id: OMIM:261515
disease_name: D-BIFUNCTIONAL PROTEIN DEFICIENCY
gene_symbol: CLN8
disease_id: ORPHA:1947
disease_name: Progressive epilepsy-intellectual disability syndrome, Finnish type
CLN8 disease, Northern epilepsy variant
NCL, Northern epilepsy variant
Neuronal ceroid lipofuscinosis, Northern epilepsy variant
Northern epilepsy
gene_symbol: CLCC1
disease_id: OMIM:609913
disease_name: RETINITIS PIGMENTOSA 32
gene_symbol: PDE6D
disease_id: OMIM:615665
disease_name: JOUBERT SYNDROME 22
gene_symbol: CLN3
disease_id: OMIM:204200
disease_name: CEROID LIPOFUSCINOSIS, NEURONAL, 3
gene_symbol: TPP1
disease_id: OMIM:204500
disease_name: CEROID LIPOFUSCINOSIS, NEURONAL, 2
gene_symbol: FLVCR1
disease_id: OMIM:609033
disease_name: POSTERIOR COLUMN ATAXIA WITH RETINITIS PIGMENTOSA
gene_symbol: ERCC6
disease_id: OMIM:133540
disease_name: COCKAYNE SYNDROME B
gene_symbol: ARSA
disease_id: ORPHA:309271
disease_name: Metachromatic leukodystrophy, adult form
Arylsulfatase A deficiency, adult form
MLD, adult form
gene_symbol: ARSA
disease_id: ORPHA:309256
disease_name: Metachromatic leukodystrophy, late infantile form
Arylsulfatase A deficiency, late infantile form
MLD, late infantile form
gene_symbol: ARSA
disease_id: ORPHA:309263
disease_name: Metachromatic leukodystrophy, juvenile form
Arylsulfatase A deficiency, juvenile form
MLD, juvenile form
gene_symbol: PSAP
disease_id: ORPHA:309271
disease_name: Metachromatic leukodystrophy, adult form
Arylsulfatase A deficiency, adult form
MLD, adult form
gene_symbol: PSAP
disease_id: ORPHA:309256
disease_name: Metachromatic leukodystrophy, late infantile form
Arylsulfatase A deficiency, late infantile form
MLD, late infantile form
gene_symbol: PSAP
disease_id: ORPHA:206436
disease_name: Infantile Krabbe disease
Krabbe disease, classic form
Krabbe disease, early-onset
gene_symbol: PSAP
disease_id: ORPHA:309263
disease_name: Metachromatic leukodystrophy, juvenile form
Arylsulfatase A deficiency, juvenile form
MLD, juvenile form
gene_symbol: UCHL1
disease_id: OMIM:615491
disease_name: SPASTIC PARAPLEGIA 79, AUTOSOMAL RECESSIVE
gene_symbol: MECR
disease_id: ORPHA:508093
disease_name: MEPAN syndrome
Autosomal recessive childhood-onset dystonia, DYT29 type
Childhood-onset generalized dystonia-optic atrophy syndrome
DYT29
Dystonia 29
Mitochondrial enoyl CoA reductase protein-associated neurodegeneration syndrome
gene_symbol: GJC2
disease_id: ORPHA:320401
disease_name: Autosomal recessive spastic paraplegia type 44
SPG44
gene_symbol: FXN
disease_id: OMIM:229300
disease_name: FRIEDREICH ATAXIA
gene_symbol: CYP27A1
disease_id: ORPHA:909
disease_name: Cerebrotendinous xanthomatosis
CTX
Sterol 27-hydroxylase deficiency
gene_symbol: ELOVL4
disease_id: ORPHA:827
disease_name: Stargardt disease
Fundus flavimaculatus
Stargardt 1
gene_symbol: ELOVL4
disease_id: OMIM:614457
disease_name: ICHTHYOSIS, SPASTIC QUADRIPLEGIA, AND MENTAL RETARDATION
gene_symbol: SNF8
disease_id: OMIM:620784
disease_name: NEURODEVELOPMENTAL DISORDER PLUS OPTIC ATROPHY
gene_symbol: SNF8
disease_id: OMIM:620783
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 115
gene_symbol: POLG
disease_id: OMIM:203700
disease_name: MITOCHONDRIAL DNA DEPLETION SYNDROME 4A (ALPERS TYPE)
gene_symbol: SLC25A22
disease_id: OMIM:609304
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 3
gene_symbol: GALC
disease_id: ORPHA:206436
disease_name: Infantile Krabbe disease
Krabbe disease, classic form
Krabbe disease, early-onset
gene_symbol: GALC
disease_id: ORPHA:206443
disease_name: Late-infantile/juvenile Krabbe disease
Krabbe disease, late-onset
gene_symbol: PLA2G6
disease_id: ORPHA:35069
disease_name: Infantile neuroaxonal dystrophy
INAD
INAD1
PLAN
Phospholipase A2-associated neurodegeneration
Seitelberger disease
gene_symbol: PLA2G6
disease_id: OMIM:256600
disease_name: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2A
gene_symbol: RAB3GAP1
disease_id: ORPHA:2510
disease_name: Micro syndrome
WARBM
Warburg micro syndrome
gene_symbol: RAB3GAP2
disease_id: ORPHA:2510
disease_name: Micro syndrome
WARBM
Warburg micro syndrome
gene_symbol: RAB18
disease_id: ORPHA:2510
disease_name: Micro syndrome
WARBM
Warburg micro syndrome
gene_symbol: TBC1D20
disease_id: ORPHA:2510
disease_name: Micro syndrome
WARBM
Warburg micro syndrome
gene_symbol: AAAS
disease_id: OMIM:231550
disease_name: ACHALASIA-ADDISONIANISM-ALACRIMA SYNDROME
gene_symbol: TCIRG1
disease_id: ORPHA:667
disease_name: Autosomal recessive malignant osteopetrosis
Infantile malignant osteopetrosis
gene_symbol: CLCN7
disease_id: ORPHA:667
disease_name: Autosomal recessive malignant osteopetrosis
Infantile malignant osteopetrosis
gene_symbol: SNX10
disease_id: ORPHA:667
disease_name: Autosomal recessive malignant osteopetrosis
Infantile malignant osteopetrosis
gene_symbol: TNFSF11
disease_id: ORPHA:667
disease_name: Autosomal recessive malignant osteopetrosis
Infantile malignant osteopetrosis
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: NDRG1
disease_id: OMIM:601455
disease_name: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4D
gene_symbol: MFF
disease_id: ORPHA:485421
disease_name: MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect
Leigh-like basal ganglia disease-optic atrophy-peripheral neuropathy syndrome
Leigh-like encephalopathy-optic atrophy-peripheral neuropathy syndrome
gene_symbol: ARHGEF2
disease_id: OMIM:617523
disease_name: NEURODEVELOPMENTAL DISORDER WITH MIDBRAIN AND HINDBRAIN MALFORMATIONS
gene_symbol: MOGS
disease_id: ORPHA:79330
disease_name: MOGS-CDG
CDG syndrome type IIb
CDG-IIb
CDG2B
Carbohydrate deficient glycoprotein syndrome type IIb
Congenital disorder of glycosylation type 2b
Congenital disorder of glycosylation type IIb
Glucosidase 1 deficiency
gene_symbol: TYR
disease_id: ORPHA:79431
disease_name: Oculocutaneous albinism type 1A
OCA1A
Tyrosinase-negative oculocutaneous albinism
gene_symbol: ERCC8
disease_id: OMIM:216400
disease_name: COCKAYNE SYNDROME A
gene_symbol: MFN2
disease_id: OMIM:601152
disease_name: NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIA, WITH OPTIC ATROPHY
gene_symbol: LAMA2
disease_id: ORPHA:258
disease_name: Laminin subunit alpha 2-related congenital muscular dystrophy
CMD1A
Congenital muscular dystrophy due to laminin alpha2 deficiency
Congenital muscular dystrophy type 1A
MDC1A
Merosin-negative congenital muscular dystrophy
gene_symbol: OPA1
disease_id: ORPHA:1215
disease_name: Autosomal dominant optic atrophy plus syndrome
ADOA+
DOA+
Optic atrophy-deafness-polyneuropathy-myopathy syndrome
Optic atrophy-hearing loss-polyneuropathy-myopathy syndrome
gene_symbol: ALG3
disease_id: OMIM:601110
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id
gene_symbol: CYP4V2
disease_id: ORPHA:41751
disease_name: Bietti crystalline dystrophy
BCD
Bietti crystalline corneoretinal dystrophy
Bietti crystalline retinopathy
gene_symbol: LARGE1
disease_id: OMIM:608840
disease_name: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 6
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: CNNM4
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: AMACR
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: 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: ALMS1
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: TRNT1
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: SLC19A2
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: ELOVL1
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: DHX40
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: NPHP4
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: BCOR
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: NEUROD1
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: TMEM237
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: GDPD1
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: TMEM67
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: ACO2
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: PEX2
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: HMCN1
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: OTX2
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: MFSD8
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: JAG1
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: SCO2
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: SMG8
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
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: SLC25A46
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: DTHD1
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: 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: PRIMPOL
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: ALPK1
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: ZNF423
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
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: MTTP
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: NBAS
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: HK1
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: P3H2
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
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: ATXN7
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: WFS1
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
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: 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: 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: PANK2
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: CEP164
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: CCT2
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: NDP
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: HCCS
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: OPA3
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
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: VPS13B
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: PLA2G5
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: 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: VWA8
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: CSPP1
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: COL9A2
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: SRD5A3
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
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: CFH
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: ASRGL1
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: MMACHC
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: NUP62
disease_id: ORPHA:225154
disease_name: Familial infantile bilateral striatal necrosis
Familial IBSN
Familial infantile striatonigral degeneration
Familial infantile striatonigral necrosis
gene_symbol: NUP54
disease_id: ORPHA:225154
disease_name: Familial infantile bilateral striatal necrosis
Familial IBSN
Familial infantile striatonigral degeneration
Familial infantile striatonigral necrosis
gene_symbol: ADAR
disease_id: ORPHA:225154
disease_name: Familial infantile bilateral striatal necrosis
Familial IBSN
Familial infantile striatonigral degeneration
Familial infantile striatonigral necrosis
gene_symbol: ITPR1
disease_id: OMIM:206700
disease_name: GILLESPIE SYNDROME
gene_symbol: ATXN1
disease_id: ORPHA:98755
disease_name: Spinocerebellar ataxia type 1
SCA1
gene_symbol: RDH11
disease_id: ORPHA:436245
disease_name: Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome
Retinal dystrophy-juvenile cataract-short stature syndrome
gene_symbol: NDUFS4
disease_id: OMIM:252010
disease_name: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 1
gene_symbol: COX6B1
disease_id: OMIM:619051
disease_name: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 7
gene_symbol: PRPS1
disease_id: ORPHA:423479
disease_name: X-linked intellectual disability-limb spasticity-retinal dystrophy-arginine vasopressin deficiency
X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome
gene_symbol: ATP1A3
disease_id: OMIM:601338
disease_name: CEREBELLAR ATAXIA, AREFLEXIA, PES CAVUS, OPTIC ATROPHY, AND SENSORINEURAL HEARING LOSS
gene_symbol: ZNHIT3
disease_id: OMIM:260565
disease_name: PEHO SYNDROME
gene_symbol: MPDU1
disease_id: ORPHA:79323
disease_name: MPDU1-CDG
CDG syndrome type If
CDG-If
CDG1F
Carbohydrate deficient glycoprotein syndrome type If
Congenital disorder of glycosylation type 1f
Congenital disorder of glycosylation type If
gene_symbol: OSTM1
disease_id: OMIM:259720
disease_name: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 5
gene_symbol: OPN1SW
disease_id: OMIM:190900
disease_name: TRITANOPIA
gene_symbol: RDH5
disease_id: ORPHA:52427
disease_name: Retinitis punctata albescens
RPA
gene_symbol: MFRP
disease_id: OMIM:611040
disease_name: MICROPHTHALMIA, ISOLATED 5
gene_symbol: ATXN3
disease_id: OMIM:109150
disease_name: MACHADO-JOSEPH DISEASE
gene_symbol: SPG11
disease_id: ORPHA:2822
disease_name: Autosomal recessive spastic paraplegia type 11
Nakamura-Osame syndrome
SPG11
Spastic paraplegia-intellectual disability-thin corpus callosum syndrome
gene_symbol: DNM1L
disease_id: OMIM:610708
disease_name: OPTIC ATROPHY 5
gene_symbol: PDE6H
disease_id: ORPHA:49382
disease_name: Achromatopsia
ACHM
Complete or incomplete color blindness
Pingelapese blindness
Rod monochromacy
Rod monochromatism
Total color blindness
gene_symbol: ATF6
disease_id: ORPHA:1872
disease_name: Cone rod dystrophy
gene_symbol: RAX2
disease_id: ORPHA:1872
disease_name: Cone rod dystrophy
gene_symbol: CNGA3
disease_id: ORPHA:1872
disease_name: Cone rod dystrophy
gene_symbol: CFAP410
disease_id: ORPHA:1872
disease_name: Cone rod dystrophy
gene_symbol: ADAM9
disease_id: ORPHA:1872
disease_name: Cone rod dystrophy
gene_symbol: RIMS1
disease_id: ORPHA:1872
disease_name: Cone rod dystrophy
gene_symbol: DRAM2
disease_id: ORPHA:1872
disease_name: Cone rod dystrophy
gene_symbol: UNC119
disease_id: ORPHA:1872
disease_name: Cone rod dystrophy
gene_symbol: CACNA2D4
disease_id: ORPHA:1872
disease_name: Cone rod dystrophy
gene_symbol: UBAP1L
disease_id: ORPHA:1872
disease_name: Cone rod dystrophy
gene_symbol: POC1B
disease_id: ORPHA:1872
disease_name: Cone rod dystrophy
gene_symbol: PITPNM3
disease_id: ORPHA:1872
disease_name: Cone rod dystrophy
gene_symbol: TTLL5
disease_id: ORPHA:1872
disease_name: Cone rod dystrophy
gene_symbol: TLCD3B
disease_id: ORPHA:1872
disease_name: Cone rod dystrophy
gene_symbol: RAB28
disease_id: ORPHA:1872
disease_name: Cone rod dystrophy
gene_symbol: PAX6
disease_id: ORPHA:250923
disease_name: Isolated aniridia
gene_symbol: FOXC1
disease_id: ORPHA:250923
disease_name: Isolated aniridia
gene_symbol: TRIM44
disease_id: ORPHA:250923
disease_name: Isolated aniridia
gene_symbol: CABP4
disease_id: ORPHA:215
disease_name: Congenital stationary night blindness
Congenital essential nyctalopia
gene_symbol: LRIT3
disease_id: ORPHA:215
disease_name: Congenital stationary night blindness
Congenital essential nyctalopia
gene_symbol: GRM6
disease_id: ORPHA:215
disease_name: Congenital stationary night blindness
Congenital essential nyctalopia
gene_symbol: GPR179
disease_id: ORPHA:215
disease_name: Congenital stationary night blindness
Congenital essential nyctalopia
gene_symbol: GRK1
disease_id: ORPHA:215
disease_name: Congenital stationary night blindness
Congenital essential nyctalopia
gene_symbol: SLC24A1
disease_id: ORPHA:215
disease_name: Congenital stationary night blindness
Congenital essential nyctalopia
gene_symbol: GNB3
disease_id: ORPHA:215
disease_name: Congenital stationary night blindness
Congenital essential nyctalopia
gene_symbol: GNAT1
disease_id: ORPHA:215
disease_name: Congenital stationary night blindness
Congenital essential nyctalopia
gene_symbol: NYX
disease_id: ORPHA:215
disease_name: Congenital stationary night blindness
Congenital essential nyctalopia
gene_symbol: KIF3B
disease_id: OMIM:618955
disease_name: RETINITIS PIGMENTOSA 89
gene_symbol: PEX12
disease_id: OMIM:266510
disease_name: PEROXISOME BIOGENESIS DISORDER 3B