RHO (rhodopsin)

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Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases Related genes Diseases linked via similar genes

Gene

• Entrez ID: 6010
• Gene name: Rhodopsin
• Gene symbol: RHO
• Synonyms (NCBI Gene): CSNBAD1, OPN2, RP4
• Chromosome: 3
• Chromosome location: 3q22.1
• Summary: The protein encoded by this gene is found in rod cells in the back of the eye and is essential for vision in low-light conditions. The encoded protein binds to 11-cis retinal and is activated when light hits the retinal molecule. Defects in this gene are

SNPs Show/Hide all (72)

SNP ID	Visualize variation	Clinical significance	Consequence
rs28933394	C>G,T	Pathogenic	Missense variant, coding sequence variant
rs28933395	C>G	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs28933993	A>C	Pathogenic	Missense variant, coding sequence variant
rs29001566	C>A,G,T	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs29001637	C>T	Pathogenic	Missense variant, coding sequence variant
rs29001653	A>G	Pathogenic	Missense variant, coding sequence variant
rs104893768	C>A	Pathogenic	Missense variant, coding sequence variant
rs104893769	C>T	Pathogenic	Missense variant, coding sequence variant
rs104893770	T>C	Pathogenic	Missense variant, coding sequence variant
rs104893771	T>A	Pathogenic	Missense variant, coding sequence variant
rs104893772	G>A,C	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs104893773	G>A,T	Pathogenic	Missense variant, coding sequence variant
rs104893774	G>A,T	Pathogenic	Missense variant, coding sequence variant
rs104893775	C>T	Pathogenic	Missense variant, coding sequence variant
rs104893776	A>G	Pathogenic	Missense variant, coding sequence variant
rs104893777	A>G	Pathogenic	Missense variant, coding sequence variant
rs104893778	C>T	Pathogenic	Stop gained, coding sequence variant
rs104893779	G>A,T	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs104893780	G>A	Pathogenic	Missense variant, coding sequence variant
rs104893781	C>T	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs104893782	T>C,G	Pathogenic	Missense variant, coding sequence variant
rs104893783	G>A,T	Pathogenic, likely-pathogenic	Stop gained, missense variant, coding sequence variant
rs104893786	A>G	Pathogenic	Missense variant, coding sequence variant
rs104893787	G>A	Pathogenic	Missense variant, coding sequence variant
rs104893788	G>A,C	Pathogenic	Missense variant, coding sequence variant
rs104893789	C>A	Pathogenic	Missense variant, coding sequence variant
rs104893790	G>A	Pathogenic	Missense variant, coding sequence variant
rs104893791	G>A,C	Pathogenic	Missense variant, coding sequence variant
rs104893792	G>C,T	Pathogenic	Missense variant, coding sequence variant
rs104893793	C>A,T	Pathogenic	Missense variant, coding sequence variant
rs104893794	C>T	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs104893795	G>A,C,T	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs104893796	C>T	Pathogenic	Missense variant, coding sequence variant
rs104893797	C>G	Pathogenic	Missense variant, coding sequence variant
rs121918590	CTG>-	Pathogenic	Inframe deletion, coding sequence variant
rs137883686	T>G	Likely-pathogenic	Missense variant, coding sequence variant
rs142285818	C>G,T	Pathogenic, benign, likely-benign	Missense variant, synonymous variant, coding sequence variant
rs151063543	C>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant
rs200248198	C>A,T	Likely-pathogenic	Coding sequence variant, synonymous variant, stop gained
rs200946638	G>A,C	Pathogenic	Coding sequence variant, missense variant
rs371288618	C>G,T	Pathogenic	Coding sequence variant, missense variant
rs527236100	G>A	Pathogenic	Missense variant, coding sequence variant
rs527236101	C>A,T	Likely-pathogenic, pathogenic	Coding sequence variant, stop gained, synonymous variant
rs527236102	CCAC>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs527236103	G>A	Pathogenic	Missense variant, coding sequence variant
rs759945007	G>A,T	Pathogenic	Missense variant, coding sequence variant
rs768210562	C>A,T	Pathogenic	Coding sequence variant, synonymous variant, missense variant
rs775557680	G>A,C	Pathogenic, pathogenic-likely-pathogenic	Coding sequence variant, missense variant
rs869320618	G>A	Pathogenic	Stop gained, coding sequence variant
rs886041233	GG>TT	Pathogenic	Missense variant, coding sequence variant
rs1057518210	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1057521112	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1064793749	T>-	Pathogenic, not-provided	Frameshift variant, coding sequence variant
rs1424131846	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1553780837	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1553781140	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1553781176	C>G	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs1560046837	C>A	Pathogenic	Missense variant, coding sequence variant
rs1560046845	->G	Pathogenic	Frameshift variant, coding sequence variant
rs1578278088	T>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1578278354	G>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1578278417	G>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1578278438	T>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1578279746	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1578280574	->TGCAGTGCTCGTGTGGAATCGACTACTACACGCTCAAGCCGGAGGTCAACAACGAGTCTTTTGTCATCTACATGTTCGTGGTCCACTTCAC	Pathogenic	Frameshift variant, coding sequence variant
rs1578280588	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1578280614	T>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1578281100	C>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1578281136	C>T	Likely-pathogenic	Stop gained, coding sequence variant
rs1578281565	A>T	Pathogenic	Splice acceptor variant
rs1578281625	CC>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1578281706	T>C	Likely-pathogenic	Missense variant, coding sequence variant

miRNA Show/Hide all (127)

miRTarBase ID	miRNA	Experiments	Reference
MIRT438893	hsa-miR-21-5p	qRT-PCR, Western blot	23446999
MIRT438893	hsa-miR-21-5p	qRT-PCR, Western blot	23446999
MIRT736088	hsa-let-7a-3p	RNA-seq	31579443
MIRT1305084	hsa-miR-1228	CLIP-seq
MIRT1305085	hsa-miR-1302	CLIP-seq
MIRT1305086	hsa-miR-3180-5p	CLIP-seq
MIRT1305087	hsa-miR-3189-5p	CLIP-seq
MIRT1305088	hsa-miR-329	CLIP-seq
MIRT1305089	hsa-miR-362-3p	CLIP-seq
MIRT1305090	hsa-miR-3652	CLIP-seq
MIRT1305091	hsa-miR-376c	CLIP-seq
MIRT1305092	hsa-miR-4268	CLIP-seq
MIRT1305093	hsa-miR-4298	CLIP-seq
MIRT1305094	hsa-miR-4318	CLIP-seq
MIRT1305095	hsa-miR-4430	CLIP-seq
MIRT1305096	hsa-miR-4448	CLIP-seq
MIRT1305097	hsa-miR-4456	CLIP-seq
MIRT1305098	hsa-miR-4474-3p	CLIP-seq
MIRT1305099	hsa-miR-4505	CLIP-seq
MIRT1305100	hsa-miR-451b	CLIP-seq
MIRT1305101	hsa-miR-4654	CLIP-seq
MIRT1305102	hsa-miR-4687-3p	CLIP-seq
MIRT1305103	hsa-miR-4693-5p	CLIP-seq
MIRT1305104	hsa-miR-4758-3p	CLIP-seq
MIRT1305105	hsa-miR-4769-5p	CLIP-seq
MIRT1305106	hsa-miR-4778-5p	CLIP-seq
MIRT1305107	hsa-miR-4789-3p	CLIP-seq
MIRT1305108	hsa-miR-520a-5p	CLIP-seq
MIRT1305109	hsa-miR-525-5p	CLIP-seq
MIRT1305110	hsa-miR-541	CLIP-seq
MIRT1305111	hsa-miR-654-5p	CLIP-seq
MIRT1305112	hsa-miR-892a	CLIP-seq
MIRT1305084	hsa-miR-1228	CLIP-seq
MIRT2090317	hsa-miR-135a	CLIP-seq
MIRT2090318	hsa-miR-135b	CLIP-seq
MIRT2090319	hsa-miR-2467-5p	CLIP-seq
MIRT1305088	hsa-miR-329	CLIP-seq
MIRT1305089	hsa-miR-362-3p	CLIP-seq
MIRT2090320	hsa-miR-4777-5p	CLIP-seq
MIRT2090321	hsa-miR-518d-5p	CLIP-seq
MIRT2090322	hsa-miR-519b-5p	CLIP-seq
MIRT2090323	hsa-miR-519c-5p	CLIP-seq
MIRT2090324	hsa-miR-520c-5p	CLIP-seq
MIRT2090325	hsa-miR-526a	CLIP-seq
MIRT2315174	hsa-miR-106a	CLIP-seq
MIRT2315175	hsa-miR-106b	CLIP-seq
MIRT1305084	hsa-miR-1228	CLIP-seq
MIRT2315176	hsa-miR-17	CLIP-seq
MIRT2315177	hsa-miR-20a	CLIP-seq
MIRT2315178	hsa-miR-20b	CLIP-seq
MIRT2315179	hsa-miR-302a	CLIP-seq
MIRT2315180	hsa-miR-302b	CLIP-seq
MIRT2315181	hsa-miR-302c	CLIP-seq
MIRT2315182	hsa-miR-302d	CLIP-seq
MIRT2315183	hsa-miR-302e	CLIP-seq
MIRT1305088	hsa-miR-329	CLIP-seq
MIRT1305089	hsa-miR-362-3p	CLIP-seq
MIRT2315184	hsa-miR-372	CLIP-seq
MIRT2315185	hsa-miR-373	CLIP-seq
MIRT1305091	hsa-miR-376c	CLIP-seq
MIRT2315186	hsa-miR-4699-3p	CLIP-seq
MIRT1305107	hsa-miR-4789-3p	CLIP-seq
MIRT2315187	hsa-miR-494	CLIP-seq
MIRT2315188	hsa-miR-512-3p	CLIP-seq
MIRT2315189	hsa-miR-519d	CLIP-seq
MIRT2315190	hsa-miR-520a-3p	CLIP-seq
MIRT2315191	hsa-miR-520b	CLIP-seq
MIRT2315192	hsa-miR-520c-3p	CLIP-seq
MIRT2315193	hsa-miR-520d-3p	CLIP-seq
MIRT2315194	hsa-miR-520d-5p	CLIP-seq
MIRT2315195	hsa-miR-520e	CLIP-seq
MIRT2315196	hsa-miR-520g	CLIP-seq
MIRT2315197	hsa-miR-520h	CLIP-seq
MIRT2315198	hsa-miR-524-5p	CLIP-seq
MIRT2315199	hsa-miR-93	CLIP-seq
MIRT2090317	hsa-miR-135a	CLIP-seq
MIRT2090318	hsa-miR-135b	CLIP-seq
MIRT2090319	hsa-miR-2467-5p	CLIP-seq
MIRT2090320	hsa-miR-4777-5p	CLIP-seq
MIRT2090321	hsa-miR-518d-5p	CLIP-seq
MIRT2090322	hsa-miR-519b-5p	CLIP-seq
MIRT2090323	hsa-miR-519c-5p	CLIP-seq
MIRT2090324	hsa-miR-520c-5p	CLIP-seq
MIRT2090325	hsa-miR-526a	CLIP-seq
MIRT2090317	hsa-miR-135a	CLIP-seq
MIRT2090318	hsa-miR-135b	CLIP-seq
MIRT2090319	hsa-miR-2467-5p	CLIP-seq
MIRT2090320	hsa-miR-4777-5p	CLIP-seq
MIRT2090321	hsa-miR-518d-5p	CLIP-seq
MIRT2090322	hsa-miR-519b-5p	CLIP-seq
MIRT2090323	hsa-miR-519c-5p	CLIP-seq
MIRT2090324	hsa-miR-520c-5p	CLIP-seq
MIRT2090325	hsa-miR-526a	CLIP-seq
MIRT2458163	hsa-miR-1231	CLIP-seq
MIRT2458164	hsa-miR-31	CLIP-seq
MIRT2458165	hsa-miR-3128	CLIP-seq
MIRT1305090	hsa-miR-3652	CLIP-seq
MIRT2458166	hsa-miR-4288	CLIP-seq
MIRT1305095	hsa-miR-4430	CLIP-seq
MIRT1305097	hsa-miR-4456	CLIP-seq
MIRT1305098	hsa-miR-4474-3p	CLIP-seq
MIRT1305099	hsa-miR-4505	CLIP-seq
MIRT1305101	hsa-miR-4654	CLIP-seq
MIRT1305102	hsa-miR-4687-3p	CLIP-seq
MIRT2458167	hsa-miR-4720-5p	CLIP-seq
MIRT2458168	hsa-miR-4731-5p	CLIP-seq
MIRT2458169	hsa-miR-4738-3p	CLIP-seq
MIRT1305105	hsa-miR-4769-5p	CLIP-seq
MIRT2458170	hsa-miR-4799-3p	CLIP-seq
MIRT1305110	hsa-miR-541	CLIP-seq
MIRT2458171	hsa-miR-632	CLIP-seq
MIRT2458172	hsa-miR-637	CLIP-seq
MIRT1305111	hsa-miR-654-5p	CLIP-seq
MIRT1305084	hsa-miR-1228	CLIP-seq
MIRT2611488	hsa-miR-133a	CLIP-seq
MIRT2611489	hsa-miR-133b	CLIP-seq
MIRT1305088	hsa-miR-329	CLIP-seq
MIRT1305089	hsa-miR-362-3p	CLIP-seq
MIRT2090317	hsa-miR-135a	CLIP-seq
MIRT2090318	hsa-miR-135b	CLIP-seq
MIRT2090319	hsa-miR-2467-5p	CLIP-seq
MIRT2090320	hsa-miR-4777-5p	CLIP-seq
MIRT2090321	hsa-miR-518d-5p	CLIP-seq
MIRT2090322	hsa-miR-519b-5p	CLIP-seq
MIRT2090323	hsa-miR-519c-5p	CLIP-seq
MIRT2090324	hsa-miR-520c-5p	CLIP-seq
MIRT2090325	hsa-miR-526a	CLIP-seq

Transcription factors Show/Hide all (7)

Transcription factor	Regulation	Reference
CRX	Repression	15277472
KLF15	Repression	15277472
KLF15	Unknown	15963234
NR2E3	Activation	19898638
NRL	Repression	15277472
NRL	Unknown	11477108;12566383
SOX2	Repression	20739473

Gene ontology (GO) Show/Hide all (61)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000139	Component	Golgi membrane	TAS
GO:0000226	Process	Microtubule cytoskeleton organization	IEA
GO:0001750	Component	Photoreceptor outer segment	IBA
GO:0001750	Component	Photoreceptor outer segment	IDA	11767049, 23704327
GO:0001750	Component	Photoreceptor outer segment	IEA
GO:0001917	Component	Photoreceptor inner segment	IDA	11767049
GO:0001917	Component	Photoreceptor inner segment	IEA
GO:0004930	Function	G protein-coupled receptor activity	IEA
GO:0004930	Function	G protein-coupled receptor activity	TAS	8107847
GO:0005502	Function	11-cis retinal binding	ISS
GO:0005515	Function	Protein binding	IPI	12754272, 17693260, 19934218, 32296183
GO:0005794	Component	Golgi apparatus	IDA	11767049
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	31380578, 31730232
GO:0005886	Component	Plasma membrane	TAS	8253795
GO:0005911	Component	Cell-cell junction	IEA
GO:0007165	Process	Signal transduction	IEA
GO:0007186	Process	G protein-coupled receptor signaling pathway	IBA
GO:0007186	Process	G protein-coupled receptor signaling pathway	IEA
GO:0007186	Process	G protein-coupled receptor signaling pathway	IMP	2218504
GO:0007186	Process	G protein-coupled receptor signaling pathway	TAS	2218504
GO:0007601	Process	Visual perception	IEA
GO:0007601	Process	Visual perception	IEA
GO:0007602	Process	Phototransduction	IBA
GO:0007602	Process	Phototransduction	IEA
GO:0007602	Process	Phototransduction	IEA
GO:0007603	Process	Phototransduction, visible light	TAS	1418997
GO:0008020	Function	G protein-coupled photoreceptor activity	IBA
GO:0008020	Function	G protein-coupled photoreceptor activity	ISS
GO:0009416	Process	Response to light stimulus	IEA
GO:0009583	Process	Detection of light stimulus	IEA
GO:0009642	Process	Response to light intensity	IEA
GO:0009881	Function	Photoreceptor activity	IEA
GO:0010467	Process	Gene expression	IEA
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	ISS
GO:0016038	Process	Absorption of visible light	IBA
GO:0016038	Process	Absorption of visible light	ISS
GO:0016056	Process	G protein-coupled opsin signaling pathway	ISS
GO:0016056	Process	G protein-coupled opsin signaling pathway	TAS	8107847
GO:0030660	Component	Golgi-associated vesicle membrane	TAS
GO:0042622	Component	Photoreceptor outer segment membrane	IDA	19934218
GO:0042995	Component	Cell projection	IEA
GO:0043052	Process	Thermotaxis	IEA
GO:0045494	Process	Photoreceptor cell maintenance	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0050953	Process	Sensory perception of light stimulus	IEA
GO:0050960	Process	Detection of temperature stimulus involved in thermoception	IEA
GO:0060041	Process	Retina development in camera-type eye	IEA
GO:0060170	Component	Ciliary membrane	TAS
GO:0060342	Component	Photoreceptor inner segment membrane	IDA	19934218
GO:0071482	Process	Cellular response to light stimulus	IBA
GO:0071482	Process	Cellular response to light stimulus	IEA
GO:0071800	Process	Podosome assembly	IEA
GO:0097225	Component	Sperm midpiece	IEA
GO:0097381	Component	Photoreceptor disc membrane	IDA	25664179
GO:0097381	Component	Photoreceptor disc membrane	IEA
GO:0097381	Component	Photoreceptor disc membrane	TAS
GO:0120200	Component	Rod photoreceptor outer segment	IEA
GO:1904389	Process	Rod bipolar cell differentiation	IEA
GO:1990913	Component	Sperm head plasma membrane	IEA

Other IDs

• MIM: 180380
• HGNC: 10012
• e!Ensembl: ENSG00000163914

Protein

• UniProt ID: P08100
• Protein name: Rhodopsin (Opsin-2)
• Protein function: Photoreceptor required for image-forming vision at low light intensity (PubMed:7846071, PubMed:8107847). Required for photoreceptor cell viability after birth (PubMed:12566452, PubMed:2215617). Light-induced isomerization of the chromophore 11-c
• PDB: 4ZWJ , 5DGY , 5W0P , 6CMO
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00001	7tm_1	54 → 306	7 transmembrane receptor (rhodopsin family)	Family
  PF10413	Rhodopsin_N	2 → 37	Amino terminal of the G-protein receptor rhodopsin	Domain

• Tissue specificity: TISSUE SPECIFICITY: Rod shaped photoreceptor cells which mediate vision in dim light.
• Sequence:

  MNGTEGPNFYVPFSNATGVVRSPFEYPQYYLAEPWQFSMLAAYMFLLIVLGFPINFLTLY
  VTVQHKKLRTPLNYILLNLAVADLFMVLGGFTSTLYTSLHGYFVFGPTGCNLEGFFATLG
  GEIALWSLVVLAIERYVVVCKPMSNFRFGENHAIMGVAFTWVMALACAAPPLAGWSRYIP
  EGLQCSCGIDYYTLKPEVNNESFVIYMFVVHFTIPMIIIFFCYGQLVFTVKEAAAQQQES
  ATTQKAEKEVTRMVIIMVIAFLICWVPYASVAFYIFTHQGSNFGPIFMTIPAFFAKSAAI
  YNPVIYIMMNKQFRNCMLTTICCGKNPLGDDEASATVSKTETSQVAPA

• Sequence length: 348

Pathways

KEGG Pathway	Reactome Pathway
Phototransduction	The canonical retinoid cycle in rods (twilight vision)
	Activation of the phototransduction cascade
	Inactivation, recovery and regulation of the phototransduction cascade
	G alpha (i) signalling events
	Opsins
	VxPx cargo-targeting to cilium

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal Show/Hide Causal Diseases (17)
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Autosomal dominant retinitis pigmentosa	Likely pathogenic	rs1064793749	RCV000509396	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Autosomal recessive retinitis pigmentosa	Likely pathogenic; Pathogenic	rs104893791	RCV003105773	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Blurred vision	Likely pathogenic; Pathogenic	rs29001566	RCV000626702	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cone-rod dystrophy	Likely pathogenic; Pathogenic	rs104893793	RCV000787681	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Congenital stationary night blindness autosomal dominant 1	Pathogenic; Likely pathogenic	rs104893768, rs104893789, rs104893790, rs104893796, rs104893793, rs1578278438, rs1402468701, rs984572250, rs2084774644	RCV000763095 RCV000013919 RCV000013920 RCV000013929 RCV000477900 RCV001542565 RCV001535689 RCV001542566 RCV001265184	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Microcephaly 17, primary, autosomal recessive	Likely pathogenic; Pathogenic	rs29001566	RCV003989284	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neuropathy, congenital hypomyelinating, 2	Pathogenic	rs1560046845	RCV000722093	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Night blindness	Likely pathogenic; Pathogenic	rs29001566	RCV000626702	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Peripheral visual field loss	Likely pathogenic; Pathogenic	rs29001566	RCV000626702	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Pigmentary retinal dystrophy	Pathogenic; Likely pathogenic	rs104893768, rs104893771, rs104893772, rs104893790, rs142285818, rs1402468701	RCV000763095 RCV001198366 RCV001813740 RCV001195814 RCV001270159 RCV002249673	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinal disorder	Likely pathogenic; Pathogenic	rs29001566, rs28933394	RCV006253541 RCV006272251	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinal dystrophy	Likely pathogenic; Pathogenic	rs2084785483, rs104893768, rs1578281565, rs2108749253, rs2108749341, rs527236101, rs527236100, rs775557680, rs886041233, rs29001566, rs29001637, rs28933394, rs104893769, rs104893772, rs104893773, rs104893779, rs104893776, rs104893777, rs28933993, rs104893775, rs104893778, rs104893780, rs104893787, rs104893783, rs104893786, rs104893782, rs104893790, rs104893791, rs104893793, rs104893794, rs104893795, rs2084800561, rs1303453819, rs754809715, rs1057521112, rs1553780837, rs1553781140, rs768210562, rs2084776162, rs142771862, rs149079952, rs2084757329, rs1415160298, rs1578278438, rs104893788, rs2084785435, rs1560046837, rs1402468701, rs1578280588, rs984572250, rs1578281706, rs2084801700, rs2084786704, rs2084793009, rs398122525, rs29001653	RCV004815478 RCV003888084 RCV003888307 RCV003888310 RCV004816817 RCV004815199 RCV003888544 RCV001074893 RCV001073685 RCV001075876 RCV001075874 RCV003887861 RCV001074373 RCV001075619 RCV004814892 RCV001073422 RCV003887862 RCV004814893 RCV003887863 RCV001074697 RCV001074272 RCV003887864 RCV001074816 RCV001073635 RCV001074645 RCV001074389 RCV004814894 RCV001075474 RCV004814895 RCV004794339 RCV004814896 RCV001075386 RCV004814897 RCV004818376 RCV003890835 RCV003890836 RCV003889887 RCV003889904 RCV004817727 RCV004817780 RCV003889982 RCV004818094 RCV001073649 RCV001074778 RCV001074351 RCV001075164 RCV001073984 RCV001075603 RCV001073876 RCV001074404 RCV001075883 RCV001073442 RCV001075493 RCV001074608 RCV001073436 RCV001075318 RCV001075407 RCV001073991 RCV004813728 RCV004813923 RCV004814997 RCV004814041	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinitis pigmentosa	Likely pathogenic; Pathogenic	rs527236101, rs527236100, rs527236102, rs775557680, rs2084793009, rs29001566, rs104893769, rs104893772, rs104893776, rs104893775, rs104893781, rs28933395, rs104893773, rs104893779, rs104893786, rs104893794, rs104893793, rs1553780837, rs1553781176, rs779169631, rs1578278354, rs768210562, rs1578281136, rs104893795, rs1578279746, rs1578280574, rs1578280588, rs777851867, rs776014770, rs1578278438, rs2084776162, rs398122525	RCV000132596 RCV000132600 RCV000132602 RCV000504731 RCV003228228 RCV000504743 RCV000787682 RCV001003167 RCV000787683 RCV000132597 RCV001003173 RCV001003172 RCV000504903 RCV000787679 RCV000504953 RCV000132598 RCV001003169 RCV000787680 RCV000505117 RCV000505129 RCV001199742 RCV000787678 RCV000787684 RCV000787686 RCV000787676 RCV001003168 RCV001003170 RCV001003171 RCV001249888 RCV001724222 RCV003324555 RCV001724238 RCV003388936 RCV000076919	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinitis pigmentosa 4	Likely pathogenic; Pathogenic	rs2108750367, rs1578281565, rs1271669044, rs527236101, rs2084791045, rs775557680, rs2084793009, rs766196737, rs556019320, rs104893787, rs104893768, rs29001566, rs29001637, rs28933394, rs104893769, rs104893771, rs104893772, rs104893773, rs104893779, rs104893774, rs104893776, rs104893777, rs28933993, rs104893775, rs104893778, rs29001653, rs104893780, rs104893781, rs28933395, rs104893786, rs104893782, rs104893791, rs104893792, rs104893788, rs104893793, rs104893794, rs121918590, rs104893795, rs104893797, rs869320618, rs1553781176, rs1553781140, rs779169631, rs1560046837, rs200248198, rs1578278438, rs768210562, rs1578281136, rs1578278088, rs1578278417, rs371288618, rs1578281706, rs1424131846, rs1578280588, rs1578280614, rs2084776162, rs2084776365, rs776014770, rs1415160298, rs2084785435, rs1402468701, rs984572250, rs2084759300, rs2084756915, rs1312862210, rs2084757679, rs2084774644, rs2084785483, rs2084785588, rs1236550448, rs2084785760, rs752076372, rs1273934052, rs2084793386, rs2084800900, rs2084801618	RCV001591836 RCV001591837 RCV004785343 RCV001265175 RCV002251232 RCV000177081 RCV005254753 RCV003389582 RCV003389585 RCV003389621 RCV000013887 RCV000013888 RCV000013889 RCV000013890 RCV000013892 RCV000013894 RCV000013895 RCV000013896 RCV000013897 RCV000013898 RCV000013899 RCV000013900 RCV000013901 RCV000013902 RCV000013904 RCV000013905 RCV000013907 RCV000013908 RCV000013909 RCV000013910 RCV000013912 RCV000013913 RCV000013915 RCV000013917 RCV000013918 RCV001265186 RCV000013922 RCV000013923 RCV000013924 RCV000013925 RCV000013926 RCV000013927 RCV000013928 RCV000013930 RCV000013931 RCV003883226 RCV005234794 RCV001265187 RCV000987330 RCV001265185 RCV000767359 RCV000767362 RCV000785958 RCV000786865 RCV001265161 RCV005633685 RCV000987328 RCV000987329 RCV000987331 RCV000987332 RCV000987333 RCV001265198 RCV001265196 RCV001027721 RCV001265189 RCV001265190 RCV001265165 RCV001265179 RCV001265180 RCV001265188 RCV001265191 RCV001535689 RCV001265197 RCV001265200 RCV001265163 RCV001262654 RCV001262653 RCV001265170 RCV001265172 RCV001265173 RCV001265176 RCV001265183 RCV001265192 RCV001265193 RCV001265194 RCV001265195 RCV001265201 RCV001265202 RCV001265162 RCV001265164 RCV001265167 RCV001265181	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinitis pigmentosa 4, autosomal recessive	Likely pathogenic; Pathogenic	rs104893783, rs104893791, rs869320618	RCV000013911 RCV000013921 RCV000022756	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinitis punctata albescens	Pathogenic	rs104893775	RCV000013903	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
RHO-related disorder	Likely pathogenic; Pathogenic	rs775557680, rs104893768, rs29001566, rs28933394, rs104893775, rs104893792, rs1424131846	RCV004755791 RCV004755731 RCV004755732 RCV004755733 RCV004755734 RCV003390680 RCV004756151	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations Show/Hide Unknown Diseases (21)
Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
BLINDNESS	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CATARACT	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cone dystrophy 3	Conflicting classifications of pathogenicity	ClinVar Disgenet	—	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
CONE-ROD DYSTROPHIES	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital stationary night blindness	Uncertain significance	ClinVar GWAS catalog, Orphanet GWAS catalog, Orphanet	9888392, 9888392	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Congenital Stationary Night Blindness, Dominant	Uncertain significance; Likely benign; Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EXUDATIVE RETINOPATHY	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NIGHT BLINDNESS, CONGENITAL STATIONARY	—	CTD, Disgenet CTD, Disgenet	8358437	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NIGHT BLINDNESS, CONGENITAL STATIONARY, AUTOSOMAL DOMINANT 1	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	18487375,7846071,8358437,9888392	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NYSTAGMUS	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Occult macular dystrophy	Uncertain significance	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OGUCHI DISEASE	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Optic atrophy	Uncertain significance	ClinVar Disgenet	—	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
RETINAL DEGENERATION	—	CTD	27233447, 8692941	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RETINAL DETACHMENT	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RETINITIS PIGMENTOSA 1	—	CTD, Disgenet CTD, Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Retinitis Pigmentosa, Dominant/Recessive	Uncertain significance; Likely benign; Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RHO-related retinopathy	—	ClinGen	ClinGen report	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ROD-CONE DYSTROPHY	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Severe early-childhood-onset retinal dystrophy	Uncertain significance	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STARGARDT DISEASE 1	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Related Genes

Sort by: Blended Diseases Pathways Evidence source

PDE6B 7 shared diseasesCone dystrophy, Cone-rod dystrophy, Congenital stationary night blindness, Night blindness, congenital stationary, Oguchi disease, Retinal degeneration, Rod-cone dystrophy 3 shared pathwaysPhototransduction, Inactivation, recovery and regulation of the phototransduction cascade, Activation of the phototransduction cascade 15 shared evidence sourcesDisgenet (Retinitis pigmentosa), Disgenet (Cone dystrophy), Disgenet (Cone-rod dystrophy), GWAS catalog (Congenital stationary night blindness), ClinVar (Congenital stationary night blindness), Disgenet (Night blindness, congenital stationary), CTD (Night blindness, congenital stationary), HPO (Night blindness, congenital stationary), Disgenet (Oguchi disease), CTD (Retinal degeneration), Orphanet (Retinitis pigmentosa), GenCC (Retinitis pigmentosa) +3 more Related via 7 shared diseases including Cone dystrophy, Cone-rod dystrophy — evidence mostly Disgenet. GNAT1 4 shared diseasesCongenital stationary night blindness, Night blindness, congenital stationary, Oguchi disease, Retinal degeneration 4 shared pathwaysPhototransduction, G alpha (i) signalling events, Inactivation, recovery and regulation of the phototransduction cascade, Activation of the phototransduction cascade 7 shared evidence sourcesDisgenet (Retinitis pigmentosa), GWAS catalog (Congenital stationary night blindness), ClinVar (Congenital stationary night blindness), Disgenet (Night blindness, congenital stationary), CTD (Night blindness, congenital stationary), HPO (Night blindness, congenital stationary), Disgenet (Oguchi disease) Related via 4 shared diseases including Congenital stationary night blindness, Night blindness, congenital stationary — evidence mostly Disgenet. LRIT3 5 shared diseasesOptic atrophy, Congenital stationary night blindness, Night blindness, congenital stationary, Oguchi disease, Stargardt disease 8 shared evidence sourcesDisgenet (Optic atrophy), GWAS catalog (Congenital stationary night blindness), ClinVar (Congenital stationary night blindness), Disgenet (Night blindness, congenital stationary), CTD (Night blindness, congenital stationary), HPO (Night blindness, congenital stationary), Disgenet (Oguchi disease), Disgenet (Stargardt disease) Related via 5 shared diseases including Optic atrophy, Congenital stationary night blindness — evidence mostly Disgenet. GUCY2D 6 shared diseasesOptic atrophy, Cone dystrophy, Cone-rod dystrophy, Night blindness, congenital stationary, Nystagmus, Oguchi disease 2 shared pathwaysPhototransduction, Inactivation, recovery and regulation of the phototransduction cascade 9 shared evidence sourcesDisgenet (Optic atrophy), Disgenet (Retinitis pigmentosa), Disgenet (Cone dystrophy), Disgenet (Cone-rod dystrophy), Disgenet (Night blindness, congenital stationary), CTD (Night blindness, congenital stationary), HPO (Night blindness, congenital stationary), Disgenet (Nystagmus), Disgenet (Oguchi disease) Related via 6 shared diseases including Optic atrophy, Cone dystrophy — evidence mostly Disgenet. RGR 2 shared diseasesOptic atrophy, Cone dystrophy 2 shared pathwaysG alpha (i) signalling events, Opsins 8 shared evidence sourcesDisgenet (Optic atrophy), Disgenet (Retinitis pigmentosa), Disgenet (Cone dystrophy), GWAS catalog (Retinitis pigmentosa), Orphanet (Retinitis pigmentosa), GenCC (Retinitis pigmentosa), ClinVar (Retinitis pigmentosa), HPO (Retinitis pigmentosa) Related via 2 shared diseases including Optic atrophy, Cone dystrophy — evidence mostly Disgenet.

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathways	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
PDE6B	7	["Cone dystrophy","Cone-rod dystrophy","Congenital stationary night blindness","Night blindness, congenital stationary","Oguchi disease","Retinal degeneration","Rod-cone dystrophy"]	3	["Phototransduction","Inactivation, recovery and regulation of the phototransduction cascade","Activation of the phototransduction cascade"]	15	["Disgenet (Retinitis pigmentosa)","Disgenet (Cone dystrophy)","Disgenet (Cone-rod dystrophy)","GWAS catalog (Congenital stationary night blindness)","ClinVar (Congenital stationary night blindness)","Disgenet (Night blindness, congenital stationary)","CTD (Night blindness, congenital stationary)","HPO (Night blindness, congenital stationary)","Disgenet (Oguchi disease)","CTD (Retinal degeneration)","Orphanet (Retinitis pigmentosa)","GenCC (Retinitis pigmentosa)"]
GNAT1	4	["Congenital stationary night blindness","Night blindness, congenital stationary","Oguchi disease","Retinal degeneration"]	4	["Phototransduction","G alpha (i) signalling events","Inactivation, recovery and regulation of the phototransduction cascade","Activation of the phototransduction cascade"]	7	["Disgenet (Retinitis pigmentosa)","GWAS catalog (Congenital stationary night blindness)","ClinVar (Congenital stationary night blindness)","Disgenet (Night blindness, congenital stationary)","CTD (Night blindness, congenital stationary)","HPO (Night blindness, congenital stationary)","Disgenet (Oguchi disease)"]
LRIT3	5	["Optic atrophy","Congenital stationary night blindness","Night blindness, congenital stationary","Oguchi disease","Stargardt disease"]	0	[]	8	["Disgenet (Optic atrophy)","GWAS catalog (Congenital stationary night blindness)","ClinVar (Congenital stationary night blindness)","Disgenet (Night blindness, congenital stationary)","CTD (Night blindness, congenital stationary)","HPO (Night blindness, congenital stationary)","Disgenet (Oguchi disease)","Disgenet (Stargardt disease)"]
GUCY2D	6	["Optic atrophy","Cone dystrophy","Cone-rod dystrophy","Night blindness, congenital stationary","Nystagmus","Oguchi disease"]	2	["Phototransduction","Inactivation, recovery and regulation of the phototransduction cascade"]	9	["Disgenet (Optic atrophy)","Disgenet (Retinitis pigmentosa)","Disgenet (Cone dystrophy)","Disgenet (Cone-rod dystrophy)","Disgenet (Night blindness, congenital stationary)","CTD (Night blindness, congenital stationary)","HPO (Night blindness, congenital stationary)","Disgenet (Nystagmus)","Disgenet (Oguchi disease)"]
RGR	2	["Optic atrophy","Cone dystrophy"]	2	["G alpha (i) signalling events","Opsins"]	8	["Disgenet (Optic atrophy)","Disgenet (Retinitis pigmentosa)","Disgenet (Cone dystrophy)","GWAS catalog (Retinitis pigmentosa)","Orphanet (Retinitis pigmentosa)","GenCC (Retinitis pigmentosa)","ClinVar (Retinitis pigmentosa)","HPO (Retinitis pigmentosa)"]

Diseases Linked via Similar Genes

Leber congenital amaurosis Linked via 2 of 5 related genesPDE6B, GUCY2D Macular dystrophy Linked via 2 of 5 related genesPDE6B, GUCY2D Diabetes mellitus type 2 Linked via 2 of 5 related genesPDE6B, GNAT1 inherited retinal dystrophy Linked via 2 of 5 related genesPDE6B, GNAT1 Alzheimer disease Linked via 1 of 5 related genesPDE6B

Disease	Linked Via (Gene Count)	Linked Via (Gene Names)
Leber congenital amaurosis	2	["PDE6B","GUCY2D"]
Macular dystrophy	2	["PDE6B","GUCY2D"]
Diabetes mellitus type 2	2	["PDE6B","GNAT1"]
inherited retinal dystrophy	2	["PDE6B","GNAT1"]
Alzheimer disease	1	["PDE6B"]