Phenotype: Cone/cone-rod dystrophy (HP:0000548)
Associated genes and diseases:
gene_symbol: CACNA1F
disease_id: OMIM:300476
disease_name: CONE-ROD DYSTROPHY, X-LINKED, 3
gene_symbol: ALMS1
disease_id: ORPHA:64
disease_name: Alström syndrome
gene_symbol: ALMS1
disease_id: OMIM:203800
disease_name: ALSTROM SYNDROME
gene_symbol: BBIP1
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: CEP290
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: IFT27
disease_id: OMIM:615996
disease_name: BARDET-BIEDL SYNDROME 19
gene_symbol: BBS1
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: SCAPER
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
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: IFT172
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: BBS2
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
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: LZTFL1
disease_id: OMIM:615994
disease_name: BARDET-BIEDL SYNDROME 17
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: OMIM:614500
disease_name: CONE-ROD DYSTROPHY 16
gene_symbol: CFAP418
disease_id: OMIM:617406
disease_name: BARDET-BIEDL SYNDROME 21
gene_symbol: ARL6
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
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: ABCA4
disease_id: OMIM:604116
disease_name: CONE-ROD DYSTROPHY 3
gene_symbol: PDE6C
disease_id: OMIM:613093
disease_name: CONE DYSTROPHY 4
gene_symbol: PITPNM3
disease_id: OMIM:600977
disease_name: CONE-ROD DYSTROPHY 5
gene_symbol: RAX2
disease_id: OMIM:610381
disease_name: CONE-ROD DYSTROPHY 11
gene_symbol: RAB28
disease_id: OMIM:615374
disease_name: CONE-ROD DYSTROPHY 18
gene_symbol: POC1B
disease_id: OMIM:615973
disease_name: CONE-ROD DYSTROPHY 20
gene_symbol: SLC19A2
disease_id: OMIM:249270
disease_name: THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME
gene_symbol: RPGRIP1
disease_id: OMIM:608194
disease_name: CONE-ROD DYSTROPHY 13
gene_symbol: CNNM4
disease_id: OMIM:217080
disease_name: JALILI SYNDROME
gene_symbol: CFAP410
disease_id: OMIM:602271
disease_name: SPONDYLOMETAPHYSEAL DYSPLASIA, AXIAL
gene_symbol: GUCA1A
disease_id: OMIM:602093
disease_name: CONE DYSTROPHY 3
gene_symbol: UNC119
disease_id: OMIM:620342
disease_name: CONE-ROD DYSTROPHY 24
gene_symbol: HMX1
disease_id: OMIM:612109
disease_name: OCULOAURICULAR SYNDROME
gene_symbol: CRX
disease_id: OMIM:120970
disease_name: CONE-ROD DYSTROPHY 2
gene_symbol: AIPL1
disease_id: OMIM:604393
disease_name: LEBER CONGENITAL AMAUROSIS 4
gene_symbol: ATXN7
disease_id: ORPHA:94147
disease_name: Spinocerebellar ataxia type 7
Ataxia with pigmentary retinopathy
Cerebellar syndrome-pigmentary maculopathy syndrome
SCA7
gene_symbol: GUCY2D
disease_id: OMIM:601777
disease_name: CONE-ROD DYSTROPHY 6
gene_symbol: PCYT1A
disease_id: ORPHA:85167
disease_name: Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome
SMD-CRD
gene_symbol: PCYT1A
disease_id: OMIM:608940
disease_name: SPONDYLOMETAPHYSEAL DYSPLASIA WITH CONE-ROD DYSTROPHY
gene_symbol: TTLL5
disease_id: OMIM:615860
disease_name: CONE-ROD DYSTROPHY 19
gene_symbol: PIBF1
disease_id: OMIM:617767
disease_name: JOUBERT SYNDROME 33
gene_symbol: ADAM9
disease_id: OMIM:612775
disease_name: CONE-ROD DYSTROPHY 9
gene_symbol: KCNV2
disease_id: OMIM:610356
disease_name: RETINAL CONE DYSTROPHY 3B
gene_symbol: CACNA2D4
disease_id: OMIM:610478
disease_name: RETINAL CONE DYSTROPHY 4
gene_symbol: PROM1
disease_id: OMIM:612657
disease_name: CONE-ROD DYSTROPHY 12
gene_symbol: NGLY1
disease_id: ORPHA:404454
disease_name: Alacrimia-choreoathetosis-liver dysfunction syndrome
NGLY1 deficiency
NGLY1-CDDG
gene_symbol: ALPK1
disease_id: OMIM:614979
disease_name: RETINAL DYSTROPHY, OPTIC NERVE EDEMA, SPLENOMEGALY, ANHIDROSIS, AND MIGRAINE HEADACHE SYNDROME
gene_symbol: PDE6H
disease_id: OMIM:610024
disease_name: RETINAL CONE DYSTROPHY 3A