PRPH2 (peripherin 2)

Gene

• Entrez ID: 5961
• Gene name: Peripherin 2
• Gene symbol: PRPH2
• Synonyms (NCBI Gene): AOFMD, AVMD, CACD2, DS, MDBS1, PRPH, RDS, RP7, TSPAN22, rd2
• Chromosome: 6
• Chromosome location: 6p21.1
• Summary: The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs61748429	CA>-	Pathogenic, not-provided	Non coding transcript variant, coding sequence variant, frameshift variant
rs61755769	C>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs61755771	G>A	Pathogenic, not-provided, likely-pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs61755776	G>A,C	Not-provided, pathogenic	Stop gained, non coding transcript variant, coding sequence variant, synonymous variant
rs61755777	CAG>-	Pathogenic, not-provided	Non coding transcript variant, coding sequence variant, inframe deletion
rs61755781	T>C	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs61755783	G>A	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs61755784	A>-	Not-provided, pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs61755786	TTC>-	Pathogenic, not-provided	Non coding transcript variant, coding sequence variant, inframe deletion
rs61755787	C>T	Not-provided, likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs61755789	C>T	Pathogenic, not-provided	Non coding transcript variant, coding sequence variant, missense variant
rs61755792	G>A,C	Pathogenic, not-provided, likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs61755793	C>T	Pathogenic, not-provided	Non coding transcript variant, coding sequence variant, missense variant
rs61755794	T>A,G	Pathogenic, not-provided, likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs61755797	G>A,C	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs61755798	G>A,C	Not-provided, likely-pathogenic, pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs61755800	T>C,G	Not-provided, likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs61755801	C>G	Not-provided, likely-pathogenic, pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs61755802	A>G	Not-provided, pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs61755806	G>A	Pathogenic, likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs61755807	TGG>-	Pathogenic, not-provided	Non coding transcript variant, coding sequence variant, inframe deletion
rs61755810	C>T	Not-provided, likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs61755811	G>A,C	Not-provided, likely-pathogenic	Stop gained, non coding transcript variant, coding sequence variant, missense variant
rs61755814	G>A	Pathogenic, likely-pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs61755816	G>C,T	Not-provided, likely-pathogenic, pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs61755817	A>C,G	Not-provided, pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs121918563	A>G	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs121918564	G>T	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs121918565	A>G	Pathogenic, not-provided	Initiator codon variant, non coding transcript variant, missense variant
rs121918566	C>T	Pathogenic, not-provided	Non coding transcript variant, downstream transcript variant, genic downstream transcript variant, stop gained, coding sequence variant
rs121918567	C>A,T	Likely-pathogenic, pathogenic, not-provided	Missense variant, non coding transcript variant, coding sequence variant
rs139185976	C>T	Pathogenic-likely-pathogenic, pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs183714869	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, synonymous variant
rs281865373	T>A	Pathogenic	Intron variant
rs375978676	G>A,C	Likely-pathogenic	Missense variant, synonymous variant, non coding transcript variant, coding sequence variant
rs527236097	C>T	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs527236098	C>T	Pathogenic, likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs554945964	C>T	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs672601326	->AGTA	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs753657349	C>A,T	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs759011231	C>A	Likely-pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant, non coding transcript variant, downstream transcript variant
rs786205579	C>T	Likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs1064793237	C>G	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1064793931	A>T	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1131691378	A>T	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1203908646	G>A,T	Pathogenic	Stop gained, coding sequence variant, missense variant, non coding transcript variant
rs1554268521	C>T	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, non coding transcript variant, downstream transcript variant, stop gained
rs1554268546	CGACGTCT>-	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1554269046	G>T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs1554269053	A>G	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs1554269071	G>C	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs1554269081	G>C	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs1554270806	->AG	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1554270834	GCTGGGTC>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1554270848	GCACAAAATGG>-	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1562434099	T>-	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1562434117	CA>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1582759782	C>T	Likely-pathogenic	Splice acceptor variant
rs1582759785	G>C	Pathogenic	Intron variant
rs1582764504	AAATGAGGAGC>-	Likely-pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1582764519	GAG>-	Pathogenic	Coding sequence variant, inframe deletion, non coding transcript variant
rs1582764528	G>-	Likely-pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1582764600	A>C	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs1582764697	C>T	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs1582764765	->T	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs1582780550	G>A	Likely-pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs1582780842	->G	Likely-pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT1265925	hsa-miR-105	CLIP-seq
MIRT1265926	hsa-miR-122	CLIP-seq
MIRT1265927	hsa-miR-1264	CLIP-seq
MIRT1265928	hsa-miR-1293	CLIP-seq
MIRT1265929	hsa-miR-149	CLIP-seq
MIRT1265930	hsa-miR-1915	CLIP-seq
MIRT1265931	hsa-miR-24	CLIP-seq
MIRT1265932	hsa-miR-2467-3p	CLIP-seq
MIRT1265933	hsa-miR-2909	CLIP-seq
MIRT1265934	hsa-miR-296-5p	CLIP-seq
MIRT1265935	hsa-miR-3065-5p	CLIP-seq
MIRT1265936	hsa-miR-3126-3p	CLIP-seq
MIRT1265937	hsa-miR-3184	CLIP-seq
MIRT1265938	hsa-miR-3198	CLIP-seq
MIRT1265939	hsa-miR-3650	CLIP-seq
MIRT1265940	hsa-miR-3652	CLIP-seq
MIRT1265941	hsa-miR-3675-5p	CLIP-seq
MIRT1265942	hsa-miR-3907	CLIP-seq
MIRT1265943	hsa-miR-3918	CLIP-seq
MIRT1265944	hsa-miR-421	CLIP-seq
MIRT1265945	hsa-miR-423-5p	CLIP-seq
MIRT1265946	hsa-miR-4255	CLIP-seq
MIRT1265947	hsa-miR-4257	CLIP-seq
MIRT1265948	hsa-miR-4271	CLIP-seq
MIRT1265949	hsa-miR-4272	CLIP-seq
MIRT1265950	hsa-miR-4278	CLIP-seq
MIRT1265951	hsa-miR-4283	CLIP-seq
MIRT1265952	hsa-miR-4284	CLIP-seq
MIRT1265953	hsa-miR-4309	CLIP-seq
MIRT1265954	hsa-miR-4310	CLIP-seq
MIRT1265955	hsa-miR-432	CLIP-seq
MIRT1265956	hsa-miR-4426	CLIP-seq
MIRT1265957	hsa-miR-4430	CLIP-seq
MIRT1265958	hsa-miR-4483	CLIP-seq
MIRT1265959	hsa-miR-4489	CLIP-seq
MIRT1265960	hsa-miR-4505	CLIP-seq
MIRT1265961	hsa-miR-4647	CLIP-seq
MIRT1265962	hsa-miR-4651	CLIP-seq
MIRT1265963	hsa-miR-4662b	CLIP-seq
MIRT1265964	hsa-miR-4667-5p	CLIP-seq
MIRT1265965	hsa-miR-4675	CLIP-seq
MIRT1265966	hsa-miR-4679	CLIP-seq
MIRT1265967	hsa-miR-4684-5p	CLIP-seq
MIRT1265968	hsa-miR-4685-5p	CLIP-seq
MIRT1265969	hsa-miR-4700-5p	CLIP-seq
MIRT1265970	hsa-miR-4725-3p	CLIP-seq
MIRT1265971	hsa-miR-4728-5p	CLIP-seq
MIRT1265972	hsa-miR-4731-5p	CLIP-seq
MIRT1265973	hsa-miR-4741	CLIP-seq
MIRT1265974	hsa-miR-4768-5p	CLIP-seq
MIRT1265975	hsa-miR-578	CLIP-seq
MIRT1265976	hsa-miR-592	CLIP-seq
MIRT1265977	hsa-miR-597	CLIP-seq
MIRT1265978	hsa-miR-608	CLIP-seq
MIRT1265979	hsa-miR-625	CLIP-seq
MIRT1265980	hsa-miR-637	CLIP-seq
MIRT1265981	hsa-miR-892a	CLIP-seq
MIRT1265934	hsa-miR-296-5p	CLIP-seq
MIRT2304629	hsa-miR-1266	CLIP-seq
MIRT2304630	hsa-miR-3121-5p	CLIP-seq
MIRT2304631	hsa-miR-335	CLIP-seq
MIRT2304632	hsa-miR-3649	CLIP-seq
MIRT2304633	hsa-miR-3670	CLIP-seq
MIRT2304634	hsa-miR-4270	CLIP-seq
MIRT2304635	hsa-miR-4441	CLIP-seq
MIRT2304636	hsa-miR-4518	CLIP-seq
MIRT2304637	hsa-miR-451b	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001750	Component	Photoreceptor outer segment	IEA
GO:0001917	Component	Photoreceptor inner segment	IEA
GO:0005515	Function	Protein binding	IPI	32814053
GO:0005886	Component	Plasma membrane	IBA
GO:0007155	Process	Cell adhesion	IEA
GO:0007601	Process	Visual perception	IEA
GO:0007601	Process	Visual perception	TAS	1749427
GO:0009645	Process	Response to low light intensity stimulus	IEA
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	TAS	1749427
GO:0035845	Process	Photoreceptor cell outer segment organization	IEA
GO:0042803	Function	Protein homodimerization activity	IEA
GO:0042995	Component	Cell projection	IEA
GO:0050908	Process	Detection of light stimulus involved in visual perception	IEA
GO:0051260	Process	Protein homooligomerization	IEA
GO:0051291	Process	Protein heterooligomerization	IEA
GO:0051604	Process	Protein maturation	IBA
GO:0060041	Process	Retina development in camera-type eye	IEA
GO:0072659	Process	Protein localization to plasma membrane	IBA

Other IDs

• MIM: 179605
• HGNC: 9942
• e!Ensembl: ENSG00000112619

Protein

• UniProt ID: P23942
• Protein name: Peripherin-2 (Retinal degeneration slow protein) (Tetraspanin-22) (Tspan-22)
• Protein function: Essential for retina photoreceptor outer segment disk morphogenesis, may also play a role with ROM1 in the maintenance of outer segment disk structure (By similarity). Required for the maintenance of retinal outer nuclear layer thickness (By sim
• PDB: 7ZW1
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00335	Tetraspanin	16 → 287	Tetraspanin family	Family

• Tissue specificity: TISSUE SPECIFICITY: Retina (photoreceptor). In rim region of ROS (rod outer segment) disks.
• Sequence:

  MALLKVKFDQKKRVKLAQGLWLMNWFSVLAGIIIFSLGLFLKIELRKRSDVMNNSESHFV
  PNSLIGMGVLSCVFNSLAGKICYDALDPAKYARWKPWLKPYLAICVLFNIILFLVALCCF
  LLRGSLENTLGQGLKNGMKYYRDTDTPGRCFMKKTIDMLQIEFKCCGNNGFRDWFEIQWI
  SNRYLDFSSKEVKDRIKSNVDGRYLVDGVPFSCCNPSSPRPCIQYQITNNSAHYSYDHQT
  EELNLWVRGCRAALLSYYSSLMNSMGVVTLLIWLFEVTITIGLRYLQTSLDGVSNPEESE
  SESEGWLLEKSVPETWKAFLESVKKLGKGNQVEAEGAGAGQAPEAG

• Sequence length: 346

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
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Abnormal retinal pigmentation	Likely pathogenic; Pathogenic	rs61755787	RCV000626661	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Adult-onset foveomacular vitelliform dystrophy	Likely pathogenic; Pathogenic	rs61755801, rs61748430, rs1554269071, rs1562434117, rs1761915143, rs1800114220	RCV004799664 RCV001253500 RCV000505604 RCV000735660 RCV001253053 RCV001280897	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Autosomal recessive bestrophinopathy	Likely pathogenic; Pathogenic	rs61755781	RCV001353037	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Blurred vision	Likely pathogenic; Pathogenic	rs61755787	RCV000626661	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Central areolar choroidal dystrophy	Pathogenic	rs1761914145	RCV001199520	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Choroidal dystrophy, central areolar 2	Likely pathogenic; Pathogenic	rs61755781, rs61755814, rs2152003847, rs2152010877, rs61755793, rs61755792, rs61755771, rs121918567, rs61755783, rs1761914145, rs1562434099	RCV005031577 RCV004760371 RCV004819243 RCV001787315 RCV000014053 RCV000014056 RCV003987319 RCV000014070 RCV000014071 RCV003883233 RCV005633664	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Choroideremia	Pathogenic; Likely pathogenic	rs281865373, rs1800118693	RCV001250345 RCV005419038	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cone dystrophy	Likely pathogenic; Pathogenic	rs61755783, rs1800113541	RCV000678606 RCV001199525	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cone-rod dystrophy	Likely pathogenic; Pathogenic	rs61755781, rs281865373, rs61755792, rs61755786, rs1131691378, rs121918567, rs1800111659	RCV001250317 RCV001250359 RCV001250350 RCV001250325 RCV001250277 RCV000761334 RCV001199526	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Doyne honeycomb retinal dystrophy	Pathogenic	rs281865373	RCV001250358	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Isolated macular dystrophy	Likely pathogenic; Pathogenic	rs1562434099	RCV001199521	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Leber congenital amaurosis 18	Pathogenic; Likely pathogenic	rs61755802, rs121918563	RCV000149469 RCV000149464	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Macular degeneration	Likely pathogenic; Pathogenic	rs61755787	RCV000626661	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Macular dystrophy	Likely pathogenic; Pathogenic	rs61755810, rs61755814, rs61755793, rs753657349, rs1582764504, rs1582764528, rs1582780842	RCV004798773 RCV000787668 RCV000787664 RCV000505051 RCV000787669 RCV000787670 RCV000787660	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
maculopathy	Pathogenic; Likely pathogenic	rs61755784, rs61755792, rs61755783	RCV001003148 RCV001003147 RCV001003149	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Multifocal pattern dystrophy simulating fundus flavimaculatus	Pathogenic	rs2152010923	RCV001823321	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Patterned dystrophy of the retinal pigment epithelium	Likely pathogenic; Pathogenic	rs61755781, rs61755814, rs281865373, rs2548298343, rs61755806, rs121918563, rs61755793, rs61755792, rs61755798, rs61755771, rs61755783, rs121918567, rs986748364, rs369507460, rs61755810, rs1799988458, rs61755813, rs779414078, rs1800115811, rs1761913048, rs1761913253, rs1800110989, rs1554269081, rs1800118044, rs1322278463	RCV001250316 RCV001250336 RCV001250346 RCV003389577 RCV001250376 RCV001250378 RCV001250353 RCV001250349 RCV001250287 RCV001250291 RCV001250319 RCV001250356 RCV001250377 RCV001250315 RCV001250312 RCV001250361 RCV001250333 RCV001250371 RCV001250309 RCV001732083 RCV001250298 RCV001250340 RCV001250281 RCV001250279 RCV001250355	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Patterned macular dystrophy 1	Likely pathogenic; Pathogenic	rs1800116472, rs61755781, rs61755801, rs61755802, rs61755803, rs281865373, rs2152010844, rs1554269046, rs2152003847, rs1458793437, rs121918563, rs61755789, rs61755792, rs61748429, rs672601326, rs61755786, rs61755771, rs61755783, rs121918567, rs1562434099, rs1582759785, rs1582764697, rs1203908646, rs1582764600, rs1800117660, rs1322278463	RCV001353039 RCV000161145 RCV000987696 RCV000149468 RCV001542667 RCV001542666 RCV001726496 RCV002290706 RCV004819243 RCV002223311 RCV000149466 RCV000014055 RCV001352972 RCV000014057 RCV000014060 RCV000149467 RCV000987699 RCV001353001 RCV000987697 RCV005633664 RCV000987694 RCV000987695 RCV000987698 RCV001003138 RCV001353008 RCV002290662	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Pigmentary retinal dystrophy	Likely pathogenic; Pathogenic	rs61755781, rs61755787, rs281865372, rs1554269046, rs2152003847, rs61755796, rs121918565, rs1800110234, rs759752477	RCV005031577 RCV001270171 RCV001198961 RCV003388844 RCV004819243 RCV002249143 RCV002250267 RCV001199161 RCV001198962	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Pigmentary retinopathy	Likely pathogenic; Pathogenic	rs61755787	RCV000626661	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Progressive cone dystrophy (without rod involvement)	Likely pathogenic; Pathogenic	rs61755783	RCV000787661	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
PRPH2-related disorder	Pathogenic; Likely pathogenic	rs1800115217, rs901479607, rs1800116472, rs2152003795, rs61755774, rs61755780, rs61755781, rs61755784, rs61755785, rs61755787, rs61755788, rs61755796, rs62645929, rs62645931, rs281865372, rs62641253, rs61755797, rs61755798, rs61755799, rs61755800, rs61755801, rs61755802, rs61755803, rs61755804, rs61755805, rs61755810, rs61755814, rs62645935, rs61755766, rs281865373, rs62645938, rs61748433, rs61755768, rs281865375, rs1220783333, rs753657349, rs2152005174, rs2152005280, rs1554269046, rs2152005323, rs61755806, rs779414078, rs1064793237, rs1426763534, rs2152011002, rs2152011005, rs2152011046, rs1761916286, rs2152011142, rs2152003847, rs2152003863, rs751900290, rs121918564, rs1800111659, rs973931180, rs2152005328, rs2152005339, rs2152005352, rs757988141, rs1761904690, rs2152010848, rs2152010859, rs1395223954, rs2152010904, rs2152010916, rs2152010946, rs2152010976, rs2152011068, rs2152011148, rs1761921867, rs1761911206, rs2152011135, rs2152005272, rs1800108516, rs62645932, rs2152010910, rs2152005235, rs2152011039, rs2152011045, rs2152011015, rs2152005343, rs1761910060, rs1458793437, rs2152010898, rs2152005243, rs2152003792, rs2152011112, rs2152010856, rs390659, rs527236097, rs527236098, rs752610846, rs2548298274, rs2548300838, rs2548309785, rs2548300782, rs2548300729, rs2548309755, rs2548309917, rs2548309582, rs2548309643, rs61755775, rs2548300686, rs2548300822, rs2548309652, rs2548300655, rs2548298397, rs2548309660, rs2548309708, rs2548298312, rs61755789, rs2548309605, rs61755776, rs121918563, rs61755793, rs61755792, rs61748429, rs121918565, rs61755769, rs61755786, rs61755771, rs61755794, rs121918567, rs61755783, rs2548298268, rs2548309835, rs2548298363, rs2548300727, rs2152005417, rs777534414, rs2548300670, rs535111150, rs2548309957, rs2548300768, rs769939935, rs2548309705, rs61755813, rs1064793931, rs1554268546, rs1554269053, rs1554270834, rs1554269071, rs1554268521, rs1554269081, rs1582764528, rs1582764878, rs769723975, rs1582759785, rs1203908646, rs986748364, rs1761908297, rs1800109348, rs369507460, rs1761913693, rs1761915366, rs1761917626, rs1799985749, rs1799986608, rs1799988458, rs1800110757, rs1800110798, rs1242862941, rs759752477, rs1799986394, rs1582764697, rs1582764714, rs1800113276, rs1800115811, rs1800118432, rs1800118693, rs1761913048, rs1761913253, rs1800115494, rs1800117107, rs1800117660, rs1761908800, rs63749073, rs1800110989, rs1388865786, rs1800116126, rs1800118044, rs1322278463, rs1761917286, rs1800108496, rs1800113364, rs1800116963	RCV001327395 RCV001352567 RCV002547575 RCV001361997 RCV001857415 RCV002513911 RCV001051727 RCV001854487 RCV001315051 RCV001378482 RCV001388978 RCV002514515 RCV001037210 RCV002514516 RCV001854489 RCV004724802 RCV001381220 RCV001381219 RCV001854490 RCV001854491 RCV001857416 RCV001854492 RCV001052017 RCV005089562 RCV001058357 RCV001346727 RCV001386136 RCV002514517 RCV001043298 RCV001047656 RCV001854493 RCV002513913 RCV001857418 RCV001854494 RCV001379296 RCV001378538 RCV001378480 RCV001381557 RCV001387033 RCV001389849 RCV001389899 RCV001386139 RCV001388653 RCV001381222 RCV001385782 RCV001389354 RCV001387389 RCV001387968 RCV001385914 RCV001387459 RCV001873756 RCV002568179 RCV002568177 RCV002568181 RCV003591877 RCV001873752 RCV001873751 RCV001873760 RCV001873761 RCV001882585 RCV002568178 RCV003591876 RCV002568886 RCV001873755 RCV001882584 RCV005094727 RCV001873750 RCV001873759 RCV001873753 RCV001882581 RCV001873754 RCV005094728 RCV002568885 RCV002050336 RCV001999832 RCV001961954 RCV001927187 RCV002011195 RCV001942617 RCV001896508 RCV001896547 RCV002042361 RCV001993172 RCV002041544 RCV002020616 RCV001894157 RCV002025314 RCV001953652 RCV001956505 RCV001882254 RCV001914151 RCV001983906 RCV002030781 RCV001388979 RCV001055454 RCV002671370 RCV002791225 RCV002815367 RCV002839455 RCV002839533 RCV002856295 RCV002870716 RCV002852641 RCV002857389 RCV002866464 RCV002857924 RCV002871473 RCV002893862 RCV002966658 RCV002997018 RCV003037772 RCV003029229 RCV003031821 RCV003035640 RCV003047754 RCV003043255 RCV003044415 RCV001063368 RCV001378481 RCV001054658 RCV001857348 RCV001049315 RCV005089247 RCV000322776 RCV002513033 RCV001851844 RCV001379857 RCV001039794 RCV005089248 RCV002513034 RCV001061048 RCV003592421 RCV003592480 RCV003592507 RCV003592593 RCV003592497 RCV003593007 RCV003591415 RCV003591426 RCV003591367 RCV003592161 RCV003757478 RCV003757572 RCV003757500 RCV003757555 RCV003757687 RCV003757732 RCV003757768 RCV003757680 RCV003757811 RCV002525801 RCV003591740 RCV002524400 RCV001857204 RCV003757183 RCV001867900 RCV001389850 RCV001047360 RCV002536891 RCV001869193 RCV001061370 RCV001039037 RCV002550603 RCV001379736 RCV002551709 RCV001202274 RCV005093037 RCV001062465 RCV001051591 RCV001067304 RCV001046921 RCV001067892 RCV001067713 RCV001066960 RCV001061684 RCV002554769 RCV005093397 RCV001862534 RCV003757215 RCV005093411 RCV001386137 RCV001213611 RCV001862510 RCV001862577 RCV001388980 RCV003757221 RCV001207226 RCV001211279 RCV001209907 RCV001206484 RCV001211284 RCV001212981 RCV001212513 RCV001206978 RCV001212443 RCV001229461 RCV001232081 RCV001247906 RCV001242064 RCV001247898 RCV001239630 RCV001243703 RCV001234682 RCV001386135 RCV001387192 RCV002568706 RCV002570421 RCV001879779 RCV003770294 RCV001381221 RCV001381387 RCV001301121 RCV001303822 RCV001301122	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinal disorder	Likely pathogenic; Pathogenic	rs61755805, rs2152010923, rs61755792	RCV006253789 RCV006269485 RCV006272080	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinal dystrophy	Pathogenic; Likely pathogenic	rs61755778, rs61755780, rs61755781, rs61755784, rs61755785, rs61755787, rs62645929, rs62645931, rs61755798, rs61755800, rs61755801, rs61755803, rs61755805, rs61755810, rs61755814, rs61755815, rs62645935, rs61755766, rs281865373, rs61748430, rs61748433, rs1220783333, rs1554269046, rs61755806, rs2152003876, rs1458793437, rs1064793931, rs973931180, rs61755799, rs2152005352, rs2152005417, rs2152010848, rs2152010946, rs2152011008, rs2152011125, rs2152010877, rs2152011135, rs1761910060, rs527236097, rs527236098, rs61755796, rs121918563, rs61755793, rs61755792, rs61748429, rs61755816, rs121918565, rs61755769, rs61755786, rs61755771, rs121918567, rs61755783, rs1800108549, rs2548300805, rs781256236, rs1554269053, rs1554270834, rs1554269081, rs1562434099, rs61755811, rs1582780550, rs769723975, rs1800111659, rs986748364, rs1799985749, rs1799986608, rs1799988458, rs1800110629, rs1800110757, rs1800110798, rs1800111486, rs61755813, rs1442844778, rs779414078, rs61755794, rs1242862941, rs1761921113, rs1761904690, rs1800118693, rs1761913048, rs1800115494, rs1322278463, rs1761915143, rs1800111025	RCV004815029 RCV004815030 RCV001074856 RCV004815031 RCV004815032 RCV001074377 RCV001074811 RCV003888457 RCV003888458 RCV003888459 RCV001075498 RCV001074371 RCV004815033 RCV001075618 RCV004815035 RCV003888460 RCV004815036 RCV001074280 RCV001073686 RCV004815039 RCV004815040 RCV004815505 RCV004815528 RCV003888085 RCV004815552 RCV004815559 RCV003888301 RCV004815558 RCV004815551 RCV003888299 RCV003888298 RCV004815557 RCV004815555 RCV004815554 RCV004815550 RCV004815553 RCV004815634 RCV004816818 RCV004815671 RCV001074625 RCV001073378 RCV004816984 RCV001075781 RCV001075516 RCV001074392 RCV003887869 RCV004814900 RCV003887870 RCV001074849 RCV004814901 RCV001074733 RCV004814902 RCV001075450 RCV004814903 RCV001075677 RCV004818369 RCV003891000 RCV003891003 RCV003891006 RCV000504883 RCV000504674 RCV001074257 RCV004817971 RCV004817980 RCV004818011 RCV000787662 RCV004818062 RCV004818152 RCV001073873 RCV004813695 RCV001074972 RCV001075691 RCV001073279 RCV001074073 RCV001074425 RCV001075111 RCV001074871 RCV001073397 RCV001074814 RCV001075315 RCV001073235 RCV001075367 RCV001074888 RCV001073624 RCV001073237 RCV001074831 RCV004813890 RCV004813889 RCV004813925 RCV004814016 RCV004814021 RCV004814029 RCV004814053	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinitis pigmentosa	Likely pathogenic; Pathogenic	rs61755781, rs61755785, rs61755787, rs61755796, rs61755800, rs61755805, rs61755810, rs61755816, rs61755817, rs281865373, rs527236097, rs527236098, rs61755806, rs121918563, rs61755793, rs61755792, rs61755783, rs61755776, rs1554268546, rs1554269053, rs1554269081, rs61755811, rs1582764878, rs769723975, rs375978676, rs61755794, rs986748364, rs1761908297, rs1761911206, rs1800115494, rs1800110989, rs1800114066, rs1800116126	RCV001723663 RCV003238719 RCV001250327 RCV001250370 RCV000504657 RCV000787871 RCV001003141 RCV001003139 RCV000132580 RCV001250357 RCV000132578 RCV000132579 RCV001003142 RCV001530305 RCV000787663 RCV001250348 RCV001250320 RCV001250297 RCV000505041 RCV001003140 RCV001003144 RCV000787667 RCV000787870 RCV000844928 RCV001003145 RCV001003146 RCV001199523 RCV001199522 RCV001250311 RCV001250303 RCV001250374 RCV001250341 RCV001250314 RCV001250289	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinitis pigmentosa 7	Likely pathogenic; Pathogenic	rs1761906682, rs61755781, rs61755796, rs61755807, rs62645935, rs61748433, rs753657349, rs1554269046, rs2152003847, rs1800111659, rs527236097, rs61755777, rs61755806, rs61755793, rs61755792, rs61755816, rs61755786, rs61755771, rs61755794, rs1562434099	RCV001352981 RCV005031577 RCV005252747 RCV000014049 RCV001705814 RCV002280811 RCV002051942 RCV002468637 RCV004819243 RCV005235586 RCV005252764 RCV003152791 RCV000014048 RCV000014050 RCV005234784 RCV002466402 RCV000014058 RCV000014064 RCV000014067 RCV000014069 RCV005633664 RCV002250712	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinitis pigmentosa 7, digenic	Likely pathogenic; Pathogenic	rs121918563	RCV000014051	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinitis punctata albescens, autosomal dominant	Pathogenic	rs61755765	RCV002280866	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Stargardt disease	Likely pathogenic; Pathogenic	rs61755781, rs61755784, rs61755787, rs61755803, rs61755814, rs281865373, rs527236098, rs61755793, rs61755792, rs61755798, rs61755769, rs61755786, rs61755771, rs61755783, rs1064793931, rs1554270834, rs1582780550, rs769723975, rs369507460, rs61755813, rs1242862941, rs1800118693, rs1761913048, rs1761913253, rs1388865786, rs1554269081, rs1800118385, rs1761917286, rs1800108496	RCV001250306 RCV001250322 RCV001250326 RCV001250308 RCV001250335 RCV001250344 RCV001250331 RCV001250367 RCV001250352 RCV001250286 RCV001250275 RCV001250324 RCV001250276 RCV001250318 RCV001250338 RCV001250294 RCV001250328 RCV001250304 RCV001250332 RCV001250334 RCV001250293 RCV001250354 RCV001250300 RCV001250299 RCV001250310 RCV001250307 RCV001250373 RCV001250278 RCV001250292 RCV001250343	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Vitelliform macular dystrophy 2	Likely pathogenic; Pathogenic	rs61755797, rs61755801, rs281865373, rs61748430, rs61755792, rs61755798, rs1800118693, rs1799988458, rs1554269081	RCV000787666 RCV001250290 RCV001250347 RCV001199527 RCV001250351 RCV001250288 RCV001199529 RCV001250362 RCV001250282	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Vitelliform macular dystrophy 3	Likely pathogenic; Pathogenic	rs61755781, rs61755817, rs61748430, rs2152003847, rs2152005182, rs2152010904, rs748478593, rs61755793, rs121918564, rs61755798, rs121918565, rs121918566, rs61755769, rs1562434099, rs1799986608	RCV002508140 RCV003114252 RCV006252436 RCV004819243 RCV001587462 RCV005411769 RCV003389572 RCV001799605 RCV002508118 RCV002508119 RCV002508120 RCV002508121 RCV002508122 RCV005633664 RCV001530385	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BUTTERFLY-SHAPED PIGMENT DYSTROPHY	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BUTTERFLY-SHAPED PIGMENTARY MACULAR DYSTROPHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CENTRAL AREOLAR CHOROIDAL SCLEROSIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Choroidal Dystrophy	Uncertain significance; Conflicting classifications of pathogenicity; Benign; Likely benign	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
CHOROIDAL SCLEROSIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONE ROD DYSTROPHY	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONE-ROD DYSTROPHIES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cone-Rod Dystrophy, Dominant	Uncertain significance; Conflicting classifications of pathogenicity; Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEBER CONGENITAL AMAUROSIS	—	Disgenet, GWAS catalog Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MACULAR DYSTROPHY, PATTERNED, 1	—	Disgenet, HPO Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MACULAR DYSTROPHY, VITELLIFORM, 3	—	HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Optic atrophy	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
PATTERNED DYSTROPHY OF RETINAL PIGMENT EPITHELIUM	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PATTERNED MACULAR DYSTROPHY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROGRESSIVE CONE DYSTROPHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostate cancer	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RETINITIS PIGMENTOSA 1	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Retinitis Pigmentosa, Dominant	Uncertain significance; Conflicting classifications of pathogenicity; Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RETINITIS PUNCTATA ALBESCENS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STARGARDTS DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Usher syndrome	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Vitelliform macular dystrophy	Uncertain significance; Conflicting classifications of pathogenicity; Benign; Likely benign	ClinVar CTD, Disgenet CTD, Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
5-Alpha Reductase Deficiency	5-alpha reductase deficiency	BEFREE	30815925		★☆☆☆☆ Found in Text Mining only
Adult-onset foveomacular vitelliform dystrophy	Foveomacular Vitelliform Dystrophy	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Adult-onset night blindness	Night Blindness	HPO_DG			★☆☆☆☆ Found in Text Mining only
Adult-Onset Vitelliform Macular Dystrophy	Vitelliform Macular Dystrophy	ORPHANET_DG	10854112, 9338584		★☆☆☆☆ Found in Text Mining only
Adult-Onset Vitelliform Macular Dystrophy	Vitelliform Macular Dystrophy	BEFREE	12566026, 16885924, 18050133, 21269699, 9338584		★☆☆☆☆ Found in Text Mining only
Adult-Onset Vitelliform Macular Dystrophy	Vitelliform Macular Dystrophy	UNIPROT_DG	15370544, 17653047, 20213611, 26796962, 9338584		★☆☆☆☆ Found in Text Mining only
Adult-Onset Vitelliform Macular Dystrophy	Vitelliform Macular Dystrophy	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Adult-Onset Vitelliform Macular Dystrophy	Vitelliform Macular Dystrophy	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Adult-Onset Vitelliform Macular Dystrophy	Vitelliform Macular Dystrophy	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Age related macular degeneration	Age-related macular degeneration	BEFREE	10202289, 10704489, 12882809, 14557182, 16885924, 16916875, 17653047, 19262438, 20213611, 20335603, 22003107, 24463884, 29961824, 30215852, 31387115, 8045710, 8058286, 8302543, 8485576, 8602784		★☆☆☆☆ Found in Text Mining only
Age related macular degeneration	Age-related macular degeneration	LHGDN	12902384, 17362467		★☆☆☆☆ Found in Text Mining only
Age related macular degeneration	Age-related macular degeneration	HPO_DG			★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	28003435	Associate	★☆☆☆☆ Found in Text Mining only
Amaurosis congenita of Leber type 1	Leber congenital amaurosis	Pubtator	33712029	Associate	★☆☆☆☆ Found in Text Mining only
Amaurosis congenita of Leber, type 1	Leber congenital amaurosis	BEFREE	23847139		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	10884316, 10970056, 11090858, 12595144, 12641746, 12642616, 15322088, 15446584, 16106213, 16787413, 17045786, 18205747, 18287500, 20363051, 20587592, 24907400, 26908600		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic lateral sclerosis	Pubtator	15322088, 15446584, 18287500, 18408015	Associate	★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	LHGDN	18287500		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	ORPHANET_DG			★☆☆☆☆ Found in Text Mining only
Amyotrophic lateral sclerosis	Amyotrophic Lateral Sclerosis	Orphanet			★☆☆☆☆ Found in Text Mining only
AMYOTROPHIC LATERAL SCLEROSIS 1	Lateral Sclerosis	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis, Familial	Amyotrophic lateral sclerosis	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis, Sporadic	Lateral Sclerosis	BEFREE	20363051		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis, Sporadic	Lateral Sclerosis	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Androgen-Insensitivity Syndrome	Androgen-Insensitivity Syndrome	BEFREE	30815925		★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Atrophoderma maculatum	Anetoderma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Atrophy	Atrophy	Pubtator	34073554, 35861669	Associate	★☆☆☆☆ Found in Text Mining only
Autosomal Recessive Polycystic Kidney Disease	Polycystic kidney disease	BEFREE	9503014		★☆☆☆☆ Found in Text Mining only
Blindness	Blindness	Pubtator	35861669	Associate	★☆☆☆☆ Found in Text Mining only
Bronchopulmonary Dysplasia	Bronchopulmonary Dysplasia	BEFREE	1514107, 31722581		★☆☆☆☆ Found in Text Mining only
Butterfly-shaped pigment dystrophy	Macular dystrophy, patterned	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Butterfly-shaped pigmentary macular dystrophy	Macular dystrophy, patterned	ORPHANET_DG	8485574		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Butterfly-shaped pigmentary macular dystrophy	Macular dystrophy, patterned	BEFREE	8545803		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carcinoma of larynx	Laryngeal carcinoma	BEFREE	31819643		★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	39298723	Associate	★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★☆☆☆☆ Found in Text Mining only
Central areolar choroidal dystrophy	Central Areolar Choroidal Dystrophy	Orphanet			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Central areolar choroidal sclerosis	Central Areolar Choroidal Sclerosis	BEFREE	11801511, 16832026, 19696794, 27977834, 30215852, 31387115, 7493155, 8644804		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Central areolar choroidal sclerosis	Central Areolar Choroidal Sclerosis	ORPHANET_DG	14557183		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chorioretinal atrophy	Chorioretinal atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
CHOROIDAL DYSTROPHY, CENTRAL AREOLAR 2	Choroidal Dystrophy	UNIPROT_DG	16832026, 19038374, 20213611, 26796962		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
CHOROIDAL DYSTROPHY, CENTRAL AREOLAR 2	Choroidal Dystrophy	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
CHOROIDAL DYSTROPHY, CENTRAL AREOLAR 2	Choroidal Dystrophy	GENOMICS_ENGLAND_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
CHOROIDAL DYSTROPHY, CENTRAL AREOLAR 2	Choroidal Dystrophy	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Choroidal Neovascularization	Choroidal neovascularization	Pubtator	12882809, 32579694, 34073554, 34486473	Associate	★☆☆☆☆ Found in Text Mining only
Choroidal sclerosis	Choroidal sclerosis	Pubtator	11801511, 14510799, 26842753, 30215852, 32660024, 8644804	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Choroideremia	Choroideremia	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Conductive hearing loss	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cone Dystrophy	Cone Dystrophy	BEFREE	30819798, 9052636		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cone Dystrophy	Cone dystrophy	Pubtator	35861669	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cone Dystrophy	Cone Dystrophy	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cone rod dystrophy	Cone-rod dystrophy	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cone-Rod Dystrophies	Cone-rod dystrophy	CLINVAR_DG	14557183, 15779916, 22183351		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cone-Rod Dystrophies	Cone-rod dystrophy	BEFREE	8540854, 8912967, 9425234		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cone-Rod Dystrophy 2	Cone-rod dystrophy	ORPHANET_DG	23563732, 9279751		★☆☆☆☆ Found in Text Mining only
Cone-Rod Dystrophy 2	Cone-rod dystrophy	BEFREE	26842753, 8540854, 8912967, 9425234		★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of penis	Congenital Hypoplasia Of Penis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital sensorineural hearing loss	Congenital Sensorineural Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn disease	Pubtator	35260635	Associate	★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	HPO_DG			★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Disorder of eye	Disorder Of Eye	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Disorder of macula of retina	Disorder Of Macula Of Retina	BEFREE	12882809, 22174098, 26061163, 30822235, 9010868, 9338584		★☆☆☆☆ Found in Text Mining only
Disorder of macula of retina	Disorder Of Macula Of Retina	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Drusen	Drusen	BEFREE	19696794		★☆☆☆☆ Found in Text Mining only
Drusen	Drusen	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dyschromatopsia	Dyschromatopsia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Full thickness hole of macula lutea	Full Thickness Hole Of Macula Lutea	HPO_DG			★☆☆☆☆ Found in Text Mining only
Fundus Albipunctatus	Fundus Albipunctatus	ORPHANET_DG	8485575		★☆☆☆☆ Found in Text Mining only
Fundus Albipunctatus	Fundus Albipunctatus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Fundus Albipunctatus	Fundus Albipunctatus	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Fundus Albipunctatus	Fundus Albipunctatus	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Fundus albipunctatus	Fundus Albipunctatus	Orphanet			★☆☆☆☆ Found in Text Mining only
Geographic Atrophy	Geographic Atrophy	BEFREE	22003107		★☆☆☆☆ Found in Text Mining only
Giant Axonal Neuropathy	Giant axonal neuropathy	Pubtator	25398950	Associate	★☆☆☆☆ Found in Text Mining only
GIANT AXONAL NEUROPATHY 1	Giant Axonal Neuropathy	BEFREE	25398950		★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glaucoma Angle Closure	Angle closure glaucoma	Pubtator	34399712	Associate	★☆☆☆☆ Found in Text Mining only
Glycogen storage disease type II	Glycogen Storage Disease	BEFREE	30215852		★☆☆☆☆ Found in Text Mining only
Hearing Loss	Hearing loss	Pubtator	22842402	Associate	★☆☆☆☆ Found in Text Mining only
Hyperbilirubinemia	Hyperbilirubinemia	BEFREE	31395956		★☆☆☆☆ Found in Text Mining only
Hyperinsulinism	Hyperinsulinism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypogonadism	Hypogonadism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Juvenile-Onset Vitelliform Macular Dystrophy	Vitelliform Macular Dystrophy	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Keratoconus	Keratoconus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Laryngospasm	Laryngospasm	HPO_DG			★☆☆☆☆ Found in Text Mining only
Leber Congenital Amaurosis	Leber congenital amaurosis	Pubtator	23847139, 30726412	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Leber Congenital Amaurosis	Leber Congenital Amaurosis	BEFREE	26061163		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lenticonus	Lenticonus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	32441866	Associate	★☆☆☆☆ Found in Text Mining only
Macular degeneration	Macular Degeneration	BEFREE	10704489, 24463884, 8045710		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Macular Degeneration	Macular degeneration	Pubtator	12882809, 12902384, 14510799, 16113362, 16885924, 16916875, 17504850, 17653047, 20335603, 25082885, 25447119, 25675413, 26842753, 30726412, 32579694, 32660024, 33354892, 34486473, 34828423, 37466729, 39298723, 39596324, 7862413, 8644804	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Macular degeneration	Macular Degeneration	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Macular dystrophy	Macular dystrophy	BEFREE	14557182, 16916875, 17653047, 19262438, 20335603, 29961824, 8302543, 8485576, 8602784		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Macular dystrophy	Macular dystrophy	CLINVAR_DG	30718709, 9279751		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Macular dystrophy concentric annular	Macular dystrophy	Pubtator	39298723	Associate	★☆☆☆☆ Found in Text Mining only
Macular Dystrophy Retinal 2	Macular dystrophy	Pubtator	25675413, 33988224	Associate	★☆☆☆☆ Found in Text Mining only
Macular Dystrophy, Butterfly-Shaped Pigmentary, 2	Macular dystrophy, patterned	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
MACULAR DYSTROPHY, PATTERNED, 1	Macular dystrophy, patterned	UNIPROT_DG	16024869, 26796962, 8485574, 9443872		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MACULAR DYSTROPHY, PATTERNED, 1	Macular dystrophy, patterned	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MACULAR DYSTROPHY, PATTERNED, 1	Macular dystrophy, patterned	GENOMICS_ENGLAND_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Macular Edema, Cystoid	Cystoid macular edema	BEFREE	8004098		★☆☆☆☆ Found in Text Mining only
Macular Edema, Cystoid	Cystoid macular edema	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of larynx	Larynx cancer	BEFREE	31819643		★☆☆☆☆ Found in Text Mining only
Mood swings	Mood swings	HPO_DG			★☆☆☆☆ Found in Text Mining only
Motor neuron atrophy	Motor neuron atrophy	BEFREE	10970056, 15446584, 18287500		★☆☆☆☆ Found in Text Mining only
Motor Neuron Disease	Motor Neuron Disease	BEFREE	15446584		★☆☆☆☆ Found in Text Mining only
Motor Neuron Disease	Motor neuron disease	Pubtator	15446584	Associate	★☆☆☆☆ Found in Text Mining only
Multifocal pattern dystrophy of retinal pigment epithelium simulating fundus flavimaculatus	Multifocal Pattern Dystrophy Of Retinal Pigment Epithelium Simulating Fundus Flavimaculatus	BEFREE	17504850		★☆☆☆☆ Found in Text Mining only
Multifocal pattern dystrophy of retinal pigment epithelium simulating fundus flavimaculatus	Multifocal Pattern Dystrophy Of Retinal Pigment Epithelium Simulating Fundus Flavimaculatus	ORPHANET_DG	17504850		★☆☆☆☆ Found in Text Mining only
Multifocal pattern dystrophy simulating fundus flavimaculatus	Multifocal Pattern Dystrophy Simulating Fundus Flavimaculatus	Orphanet			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neuroblastoma	Neuroblastoma	Pubtator	18408015	Associate	★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	LHGDN	18528283		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	9489716		★☆☆☆☆ Found in Text Mining only
Neuropathy	Neuropathy	BEFREE	23179371		★☆☆☆☆ Found in Text Mining only
Nyctalopia	Nyctalopia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	BEFREE	26061163		★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	HPO_DG			★☆☆☆☆ Found in Text Mining only
obsolete Peripheral retinopathy	Obsolete Peripheral Retinopathy	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	HPO_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
PARKINSON DISEASE, LATE-ONSET	Parkinson disease	BEFREE	26842753		★☆☆☆☆ Found in Text Mining only
Patterned dystrophy of retinal pigment epithelium	Patterned macular dystrophy	Pubtator	25675413	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Patterned dystrophy of retinal pigment epithelium	Patterned Dystrophy Of Retinal Pigment Epithelium	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Peripheral Nervous System Diseases	Nervous System Diseases	BEFREE	30992453		★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Peripheral nervous system disease	Pubtator	30992453	Associate	★☆☆☆☆ Found in Text Mining only
Peripheral Neuropathy	Peripheral Neuropathy	BEFREE	30992453		★☆☆☆☆ Found in Text Mining only
PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS	Pigmentary Disorder, Reticulate, With Systemic Manifestations	BEFREE	9238083		★☆☆☆☆ Found in Text Mining only
Polycystic Kidney Autosomal Recessive	Polycystic kidney disease	Pubtator	9503014	Associate	★☆☆☆☆ Found in Text Mining only
Polyneuropathies	Polyneuropathy	Pubtator	30992453	Associate	★☆☆☆☆ Found in Text Mining only
Progressive cone dystrophy (without rod involvement)	Progressive Cone Dystrophy	CLINVAR_DG	30718709		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Progressive hearing loss stapes fixation	Hearing loss with stapes fixation	Pubtator	33452396	Associate	★☆☆☆☆ Found in Text Mining only
Pseudobulbar Palsy	Pseudobulbar Palsy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pseudovaginal Perineoscrotal Hypospadias	5-alpha reductase deficiency	BEFREE	30815925		★☆☆☆☆ Found in Text Mining only
Respiratory Distress Syndrome	Respiratory Distress Syndrome	BEFREE	30957682		★☆☆☆☆ Found in Text Mining only
Respiratory Distress Syndrome, Adult	Respiratory Distress Syndrome	BEFREE	30957682		★☆☆☆☆ Found in Text Mining only
Respiratory Distress Syndrome, Newborn	Congenital alveolar dysplasia	BEFREE	26024099, 26773759, 30957682, 31258703, 9007328, 9331261		★☆☆☆☆ Found in Text Mining only
Respiratory Failure	Respiratory Failure	HPO_DG			★☆☆☆☆ Found in Text Mining only
Reticular retinal dystrophy	Reticular retinal dystrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Retinal Degeneration	Retinal degeneration	Pubtator	21071739, 32531846, 33354892, 37466729, 7862413	Associate	★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal Diseases	BEFREE	12724643, 17148040, 20238065, 30307502, 7951236, 8045710, 8740695		★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal detachment	Pubtator	16916875, 21071739, 32423767, 32660024, 34411390, 35042295, 35344225, 35861669, 7880786	Associate	★☆☆☆☆ Found in Text Mining only
Retinal Dystrophies	Retinal Dystrophy	BEFREE	11485765, 16916875, 17653047, 17851265, 25675413, 28723922, 7710395, 9238083, 9279751, 9690896, 9775218		★☆☆☆☆ Found in Text Mining only
Retinal Dystrophies	Retinal Dystrophy	CLINVAR_DG	24608669		★☆☆☆☆ Found in Text Mining only
Retinal nonattachment	Retinal nonattachment	HPO_DG			★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis Pigmentosa	BEFREE	10077725, 10193525, 10409424, 10627133, 11297544, 11485765, 11559856, 1679750, 16916875, 1749427, 17653047, 18050133, 18328765, 19506198, 19958124, 22842402, 23847139, 24963162, 25167981, 25675413, 26773759, 26842753, 27365499, 28053051, 28539581, 29630435, 29961824, 30217183, 30543658, 7825692, 7862413, 7951236, 8045710, 8058286, 8202715, 8302876, 8364569, 8485576, 8943002, 9331261		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinitis Pigmentosa	Retinitis pigmentosa	Pubtator	10193525, 11864893, 14510799, 15994872, 16799052, 16916875, 17653047, 21347327, 22842402, 23049240, 23559859, 23847139, 23950152, 25447119, 25675413, 26321861, 26720483, 26842753, 27880076, 28076437, 30217183, 30543658, 30726412, 31614793, 32660024, 33452396, 34399712, 34440333, 35656873, 35861669, 37466729, 39298723, 7862413, 7880786, 8723719, 9007328, 9475085	Associate	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinitis Pigmentosa	Retinitis Pigmentosa	LHGDN	18050133, 18328765		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinitis pigmentosa	Retinitis Pigmentosa	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinitis Pigmentosa	Retinitis Pigmentosa	CLINVAR_DG	30718709, 8449524		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinitis Pigmentosa	Retinitis Pigmentosa	HPO_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
RETINITIS PIGMENTOSA 1	Retinitis Pigmentosa	BEFREE	23049240		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Retinitis Pigmentosa 7	Retinitis Pigmentosa	UNIPROT_DG	10627133, 11485765, 1427912, 16799052, 1684223, 1749427, 19038374, 22334370, 26796962, 7862413, 8020945		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinitis Pigmentosa 7	Retinitis Pigmentosa	BEFREE	8571961		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinitis Pigmentosa 7	Retinitis Pigmentosa	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinitis Pigmentosa 7	Retinitis Pigmentosa	GENOMICS_ENGLAND_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinitis Pigmentosa 7	Retinitis Pigmentosa	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinitis Pigmentosa 7, Digenic	Retinitis Pigmentosa, Digenic	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinitis punctata albescens	Retinitis Punctata Albescens	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Retinitis punctata albescens (disorder)	Retinitis punctata albescens	BEFREE	8240110, 8485575, 8554077, 9070228		★☆☆☆☆ Found in Text Mining only
Retinitis punctata albescens (disorder)	Retinitis punctata albescens	ORPHANET_DG	8485575		★☆☆☆☆ Found in Text Mining only
Retinitis punctata albescens (disorder)	Retinitis punctata albescens	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Rod-Cone Dystrophy	Rod-cone dystrophy	BEFREE	8540854, 8912967, 9425234		★☆☆☆☆ Found in Text Mining only
Rod-Cone Dystrophy	Rod-cone dystrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Septicemia	Septicemia	BEFREE	31296918, 31395956		★☆☆☆☆ Found in Text Mining only
Shwachman syndrome	Shwachman Syndrome	BEFREE	29320726		★☆☆☆☆ Found in Text Mining only
Sleep Apnea Syndromes	Sleep Apnea	HPO_DG			★☆☆☆☆ Found in Text Mining only
Stargardt Disease	Stargardt disease	Pubtator	16916875, 17504850, 22863181, 27813578, 28050124, 30726412, 32579694, 32660024, 33988224, 34073554, 34486473, 35353811, 7880786	Associate	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Stargardt disease	Stargardt Disease	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
STARGARDT DISEASE 1 (disorder)	Stargardt disease	BEFREE	17504850, 22948568		★☆☆☆☆ Found in Text Mining only
STARGARDT DISEASE 1 (disorder)	Stargardt disease	ORPHANET_DG			★☆☆☆☆ Found in Text Mining only
Stargardt disease 3	Stargardt disease	Pubtator	16364203, 16916875	Associate	★☆☆☆☆ Found in Text Mining only
Sveinsson Chorioretinal Atrophy	Sveinsson chorioretinal atrophy	Pubtator	16113362, 32660024, 8644804	Associate	★☆☆☆☆ Found in Text Mining only
Usher Syndrome	Usher Syndrome	BEFREE	22842402		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Usher Syndrome, Type I	Usher Syndrome	BEFREE	22842402		★☆☆☆☆ Found in Text Mining only
Usher Syndromes	Usher syndrome	Pubtator	22842402, 35656873	Associate	★☆☆☆☆ Found in Text Mining only
Vision Disorders	Visual disorder	Pubtator	16113362, 30217183, 35861669	Associate	★☆☆☆☆ Found in Text Mining only
Vitelliform Macular Dystrophy	Vitelliform macular dystrophy	Pubtator	16885924, 23993198, 30726412, 32660024, 35900727	Associate	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Vitelliform Macular Dystrophy	Vitelliform Macular Dystrophy	BEFREE	21269699, 25085631, 26849151		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Vitelliform Macular Dystrophy	Vitelliform Macular Dystrophy	CLINVAR_DG	30718709		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Vitelliform Macular Dystrophy	Vitelliform Macular Dystrophy	CTD_human_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)