RDH12 (retinol dehydrogenase 12)

Gene

• Entrez ID: 145226
• Gene name: Retinol dehydrogenase 12
• Gene symbol: RDH12
• Synonyms (NCBI Gene): LCA13, RP53, SDR7C2
• Chromosome: 14
• Chromosome location: 14q24.1
• Summary: The protein encoded by this gene is an NADPH-dependent retinal reductase whose highest activity is toward 9-cis and all-trans-retinol. The encoded enzyme also plays a role in the metabolism of short-chain aldehydes but does not exhibit steroid dehydrogena

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs28940314	C>A,T	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs28940315	C>A	Pathogenic	Coding sequence variant, missense variant
rs104894470	C>T	Pathogenic	Stop gained, coding sequence variant
rs104894471	C>T	Pathogenic	Stop gained, coding sequence variant
rs104894472	T>C	Pathogenic	Missense variant, coding sequence variant
rs104894473	T>A,C	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs104894474	G>T	Pathogenic, likely-pathogenic	Stop gained, coding sequence variant
rs104894475	C>A,G	Pathogenic	Missense variant, coding sequence variant
rs116733939	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs121434337	C>T	Pathogenic	Missense variant, coding sequence variant
rs202126574	C>T	Pathogenic	Coding sequence variant, missense variant
rs368489658	G>A,C,T	Likely-pathogenic	Coding sequence variant, missense variant
rs387906272	G>A	Pathogenic	Splice donor variant
rs745871149	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs746513362	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs749038454	G>A,C	Likely-pathogenic	Coding sequence variant, missense variant
rs753959716	C>A,T	Pathogenic	Synonymous variant, missense variant, coding sequence variant
rs759408031	C>T	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs766631462	C>A,T	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs778481181	G>A,T	Likely-pathogenic	Coding sequence variant, missense variant
rs794729650	CATC>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs797044761	->C	Pathogenic	Coding sequence variant, frameshift variant
rs878853341	GAGGCTCCAAGGTAAGTCTGGAGAAAGAGGA>-	Likely-pathogenic	Coding sequence variant, intron variant, splice donor variant
rs971610277	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1349849938	C>T	Likely-pathogenic	Stop gained, coding sequence variant
rs1566847499	A>C	Pathogenic	Missense variant, coding sequence variant
rs1594865036	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1594865064	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1594865068	AAGGAGACGGCCAGAGAGCTCGCTAGCCGAGGTAAGTGTTTCCCCTTTAGTCTCCAAAGGGCCATGCCTCCCACCCTTCTTCCCACTGGGGCCTCTGTCCATATTGCTTTGTGTTTCCTCCTAGGCTTGGGGGCTCTGACTAGAAATTCAAGGAACCTGGGATTCAAGTCCAACTGTGACACCAACTTACACTGTGGCCTCCAATAAAC>-	Likely-pathogenic	Splice donor variant, intron variant, coding sequence variant
rs1594865341	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1594865434	G>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1594865719	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1594866237	A>C	Likely-pathogenic	Missense variant, coding sequence variant

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001523	Process	Retinoid metabolic process	TAS
GO:0001917	Component	Photoreceptor inner segment	IEA
GO:0001917	Component	Photoreceptor inner segment	ISS
GO:0004745	Function	All-trans-retinol dehydrogenase (NAD+) activity	IDA	12226107
GO:0004745	Function	All-trans-retinol dehydrogenase (NAD+) activity	IEA
GO:0005515	Function	Protein binding	IPI	20006610, 25416956, 25910212, 32296183
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0006629	Process	Lipid metabolic process	IEA
GO:0007601	Process	Visual perception	IEA
GO:0007601	Process	Visual perception	IMP	12226107
GO:0007601	Process	Visual perception	TAS	12226107
GO:0016020	Component	Membrane	IEA
GO:0016491	Function	Oxidoreductase activity	IEA
GO:0042572	Process	Retinol metabolic process	IDA	12226107
GO:0042572	Process	Retinol metabolic process	IEA
GO:0045494	Process	Photoreceptor cell maintenance	TAS	12226107
GO:0052650	Function	All-trans-retinol dehydrogenase (NADP+) activity	IDA	12226107
GO:0052650	Function	All-trans-retinol dehydrogenase (NADP+) activity	IEA
GO:0052650	Function	All-trans-retinol dehydrogenase (NADP+) activity	TAS
GO:0060342	Component	Photoreceptor inner segment membrane	TAS
GO:0102354	Function	11-cis-retinol dehydrogenase (NADP+) activity	IEA
GO:0110095	Process	Cellular detoxification of aldehyde	IDA	19686838
GO:0110095	Process	Cellular detoxification of aldehyde	IEA

Other IDs

• MIM: 608830
• HGNC: 19977
• e!Ensembl: ENSG00000139988

Protein

• UniProt ID: Q96NR8
• Protein name: Retinol dehydrogenase 12 (EC 1.1.1.300) (All-trans and 9-cis retinol dehydrogenase) (Short chain dehydrogenase/reductase family 7C member 2)
• Protein function: Retinoids dehydrogenase/reductase with a clear preference for NADP. Displays high activity towards 9-cis, 11-cis and all-trans-retinal. Shows very weak activity towards 13-cis-retinol (PubMed:12226107, PubMed:15865448). Also exhibits activity, a
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00106	adh_short	40 → 243	short chain dehydrogenase	Domain

• Tissue specificity: TISSUE SPECIFICITY: Widely expressed, mostly in retina, kidney, brain, skeletal muscle, pancreas and stomach. {ECO:0000269|PubMed:15865448}.
• Sequence:

  MLVTLGLLTSFFSFLYMVAPSIRKFFAGGVCRTNVQLPGKVVVITGANTGIGKETARELA
  SRGARVYIACRDVLKGESAASEIRVDTKNSQVLVRKLDLSDTKSIRAFAEGFLAEEKQLH
  ILINNAGVMMCPYSKTADGFETHLGVNHLGHFLLTYLLLERLKVSAPARVVNVSSVAHHI
  GKIPFHDLQSEKRYSRGFAYCHSKLANVLFTRELAKRLQGTGVTTYAVHPGVVRSELVRH
  SSLLCLLWRLFSPFVKTAREGAQTSLHCALAEGLEPLSGKYFSDCKRTWVSPRARNNKTA
  ERLWNVSCELLGIRWE

• Sequence length: 316

Pathways

KEGG:

Retinol metabolism
Metabolic pathways
Biosynthesis of cofactors

Reactome:

Retinoid cycle disease events
The canonical retinoid cycle in rods (twilight vision)

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
Abnormality of the eye	Pathogenic; Likely pathogenic	rs386834261, rs1594867516	RCV000504734 RCV001814294	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cone-rod dystrophy	Likely pathogenic; Pathogenic	rs28940314, rs121434337, rs759408031	RCV006270499 RCV002267718 RCV003324481 RCV002267742	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Leber congenital amaurosis	Likely pathogenic; Pathogenic	rs778571042, rs2140142183, rs527800020, rs368489658, rs2140145502, rs144148976, rs2140138146, rs1594867551, rs386834261, rs28940314, rs104894471, rs28940315, rs121434337, rs202126574, rs2038232781, rs797044761, rs878853338, rs878853339, rs1254096311, rs2503797582, rs757735668, rs1239043055, rs116733939, rs759408031, rs766631462, rs761231974, rs752242512, rs116649873, rs2038232911, rs2038317129, rs761167763, rs753074829	RCV005057345 RCV001831344 RCV001836387 RCV001831398 RCV003155408 RCV001733411 RCV003331233 RCV003485755 RCV001277207 RCV001277201 RCV001254729 RCV001277202 RCV001826405 RCV003155010 RCV005608857 RCV001826911 RCV001833238 RCV001828100 RCV005407164 RCV004701069 RCV003988140 RCV005610690 RCV001835041 RCV000754982 RCV001830679 RCV001277204 RCV001003153 RCV001420746 RCV001827217 RCV001277203 RCV005408657 RCV001277209 RCV003324554 RCV001833781 RCV005236749	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Leber congenital amaurosis 13	Likely pathogenic; Pathogenic	rs28940314, rs778571042, rs2140142183, rs527800020, rs368489658, rs755621140, rs2140145266, rs116733939, rs2140145502, rs2140151036, rs755909719, rs2140145599, rs2140145142, rs2038231425, rs1167979935, rs2140138146, rs373279009, rs1225487694, rs761167763, rs2140138107, rs2140145138, rs1594867551, rs527236099, rs28940313, rs386834261, rs104894470, rs104894471, rs104894474, rs104894475, rs104894476, rs28940315, rs104894472, rs104894473, rs387906272, rs121434337, rs202126574, rs2038232781, rs797044761, rs2503832440, rs794729650, rs1048754592, rs1342290111, rs2503798515, rs2503831353, rs2503804130, rs2503798936, rs2503871450, rs745369888, rs878853341, rs878853338, rs878853339, rs1566849516, rs766631462, rs749038454, rs1254096311, rs2503792325, rs1228568835, rs2472614282, rs201102789, rs2503833321, rs2503833934, rs2038170208, rs2503792540, rs2503833731, rs1344063890, rs2503797582, rs2503797952, rs2503799127, rs867494661, rs2503812445, rs757735668, rs2503780305, rs1349849938, rs1239043055, rs971610277, rs759408031, rs200387832, rs1594865068, rs1594865036, rs1594865434, rs745871149, rs140257538, rs1594867516, rs1594865064, rs761231974, rs752242512, rs116649873, rs2038232008, rs2038232911, rs2038317129, rs781331005, rs747257567, rs1163040913, rs2038196341, rs760813820, rs751589863, rs2038195054, rs753074829, rs2038316193, rs2038193754, rs912107188, rs1032626668, rs2038182629, rs767385752, rs769546135	RCV001340739 RCV001376377 RCV001377548 RCV001378468 RCV001387782 RCV001384303 RCV001385024 RCV001390024 RCV001388911 RCV001383344 RCV001385535 RCV003389498 RCV001783675 RCV002038789 RCV001941671 RCV001964550 RCV002017204 RCV002023609 RCV002023658 RCV001993303 RCV002046829 RCV001975030 RCV001050483 RCV000002127 RCV000002128 RCV000002129 RCV000002130 RCV000002131 RCV000002132 RCV000002133 RCV000002134 RCV000002135 RCV000002136 RCV000002137 RCV000002138 RCV000002139 RCV000002140 RCV001223788 RCV003058443 RCV001067765 RCV002635366 RCV000185560 RCV002659177 RCV002735556 RCV002790434 RCV002853359 RCV003030661 RCV003047102 RCV003046902 RCV003056244 RCV001377427 RCV001206727 RCV001053170 RCV003463491 RCV003471818 RCV003463492 RCV003471820 RCV003463494 RCV003463495 RCV003471821 RCV003471822 RCV003463497 RCV003463498 RCV003463499 RCV003498148 RCV003499983 RCV003497631 RCV003498658 RCV003604294 RCV003605005 RCV003602620 RCV003603835 RCV003839591 RCV004574717 RCV004574718 RCV004574719 RCV001058196 RCV000645726 RCV000993755 RCV000761341 RCV001377219 RCV000797267 RCV000803399 RCV000811812 RCV000820774 RCV000989237 RCV000989238 RCV000989239 RCV000993753 RCV001255717 RCV005012424 RCV003769395 RCV001029918 RCV001057696 RCV001036749 RCV001043608 RCV001038076 RCV001038512 RCV001041857 RCV001043928 RCV001225544 RCV001212314 RCV001255716 RCV001387133 RCV001383004 RCV001862488 RCV002557895 RCV001198281 RCV001204102 RCV001202459 RCV001205458 RCV001246151 RCV001255720 RCV001255721 RCV001255714 RCV001255719 RCV001255722 RCV001255723 RCV001255724 RCV001255715 RCV001255718 RCV001387781	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Lung cancer	Pathogenic	rs912107188	RCV005909232	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Macular dystrophy	Likely pathogenic; Pathogenic	rs2140145599, rs745871149, rs140257538	RCV001591831 RCV000993749 RCV000993751	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ovarian serous cystadenocarcinoma	Pathogenic	rs781331005	RCV005912459	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
RDH12-related disorder	Pathogenic; Likely pathogenic	rs386834261, rs202126574, rs2503871870, rs745871149	RCV000779141 RCV004734494 RCV004534300 RCV004735926	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinal dystrophy	Pathogenic; Likely pathogenic	rs527236099, rs28940313, rs386834261, rs28940314, rs104894471, rs104894474, rs104894475, rs28940315, rs121434337, rs202126574, rs797044761, rs794729650, rs878853341, rs878853338, rs878853339, rs2503833008, rs1349849938, rs116733939, rs971610277, rs368489658, rs759408031, rs200387832, rs1594867516, rs747257567, rs761167763, rs1163040913, rs2038196341, rs140257538, rs760813820, rs751589863	RCV001073449 RCV001073384 RCV000504920 RCV004814796 RCV001075533 RCV004814797 RCV004814798 RCV001075855 RCV004814799 RCV001073666 RCV001073904 RCV001074407 RCV000225678 RCV000225656 RCV000225474 RCV003889652 RCV004817774 RCV004817913 RCV001073859 RCV004818012 RCV003889988 RCV001074674 RCV003890160 RCV001074758 RCV001075351 RCV001075659 RCV001073785 RCV001075033 RCV001073230 RCV001073667	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinitis pigmentosa	Pathogenic; Likely pathogenic	rs527236099, rs386834261, rs104894474, rs104894475, rs28940315, rs387906272, rs202126574, rs1239043055, rs368489658, rs1594866237, rs140257538, rs200387832, rs1594867516, rs1594867597, rs1163040913	RCV000132692 RCV000678608 RCV000787672 RCV000787674 RCV000993758 RCV001003155 RCV000132691 RCV001003156 RCV000787671 RCV000787673 RCV000787675 RCV000993757 RCV001003157 RCV001003158 RCV001199532 RCV005418990 RCV005419057	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinitis pigmentosa 53	Pathogenic; Likely pathogenic	rs527236099, rs202126574	RCV000002141 RCV000002142	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Stargardt disease	Likely pathogenic	rs2140145566	RCV001591834	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Autosomal dominant retinitis pigmentosa	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONE-ROD DYSTROPHIES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Macular dystrophy with or without cone dysfunction	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Optic atrophy	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
OPTIC ATROPHY, HEREDITARY, LEBER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RETINAL DEGENERATION	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RETINITIS PIGMENTOSA 1	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Retinitis Pigmentosa, Recessive	Uncertain significance; Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STARGARDTS DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Amaurosis congenita of Leber type 1	Leber congenital amaurosis	Pubtator	37714431	Associate	★☆☆☆☆ Found in Text Mining only
Amaurosis congenita of Leber, type 1	Leber congenital amaurosis	BEFREE	17389517, 17512723, 17512964, 20736127, 21602930, 28471114, 28513254, 30870047, 31424981, 31505163		★☆☆☆☆ Found in Text Mining only
Atrophoderma maculatum	Anetoderma	BEFREE	15322982, 28513254		★☆☆☆☆ Found in Text Mining only
Atrophy	Atrophy	Pubtator	15322982, 28513254, 35994252	Associate	★☆☆☆☆ Found in Text Mining only
Blindness	Blindness	Pubtator	37714431	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	25586346	Inhibit	★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ciliopathies	Ciliopathies	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Conductive hearing loss	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cone-Rod Dystrophies	Cone-rod dystrophy	BEFREE	17512964, 30372751		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cone-Rod Dystrophies	Cone-rod dystrophy	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cone-Rod Dystrophy 2	Cone-rod dystrophy	BEFREE	17512964, 30372751		★☆☆☆☆ Found in Text Mining only
Congenital cerebral hernia	Congenital Cerebral Hernia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of penis	Congenital Hypoplasia Of Penis	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	22065924, 31505163		★☆☆☆☆ Found in Text Mining only
Fundus Albipunctatus	Fundus Albipunctatus	BEFREE	15258582		★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hemiplegia/hemiparesis	Hemiplegia/hemiparesis	HPO_DG			★☆☆☆☆ 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
Keratoconus	Keratoconus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Leber Congenital Amaurosis	Leber Congenital Amaurosis	BEFREE	15322982, 17130236, 17389517, 17512723, 17512964, 20736127, 22065924, 28471114, 28513254, 28540421, 30979730, 31237438, 31424981, 31505163		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Leber Congenital Amaurosis	Leber Congenital Amaurosis	ORPHANET_DG	15322982, 25685757		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Leber Congenital Amaurosis	Leber congenital amaurosis	Pubtator	15322982, 17512964, 18936139, 19753312, 19840725, 21602930, 22065924, 26147992, 28471114, 28513254, 28540421, 30979730, 34216980, 39728598, 40296824, 40446715	Associate	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Leber congenital amaurosis	Leber Congenital Amaurosis	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Leber Congenital Amaurosis	Leber Congenital Amaurosis	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
LEBER CONGENITAL AMAUROSIS 13	Leber Congenital Amaurosis	UNIPROT_DG	15258582, 15322982, 19140180, 19956407, 26124963		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
LEBER CONGENITAL AMAUROSIS 13	Leber Congenital Amaurosis	CLINVAR_DG	15258582, 15322982, 16269441, 17389517, 17964524, 22065924, 23847139, 24474277, 26047050, 26306921, 26355662, 26497376, 29186038		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
LEBER CONGENITAL AMAUROSIS 13	Leber Congenital Amaurosis	GENOMICS_ENGLAND_DG	22065924, 31505163		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
LEBER CONGENITAL AMAUROSIS 13	Leber Congenital Amaurosis	CTD_human_DG	25526675		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
LEBER CONGENITAL AMAUROSIS 13	Leber Congenital Amaurosis	BEFREE	31237438		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Leber Congenital Amaurosis 3	Leber congenital amaurosis	Pubtator	15865448	Associate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	32934959	Associate	★☆☆☆☆ Found in Text Mining only
Macular Degeneration	Macular degeneration	Pubtator	32014858, 36690427, 37322672	Associate	★☆☆☆☆ Found in Text Mining only
Malformations of Cortical Development, Group II	Malformation of cortical development	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	HPO_DG			★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	HPO_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Retinal Degeneration	Retinal degeneration	Pubtator	20006610, 21232531, 30979730	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Retinal Diseases	Retinal Diseases	BEFREE	22065924, 23900199, 26691045, 28471114		★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal detachment	Pubtator	32014858, 32423767, 38184646	Associate	★☆☆☆☆ Found in Text Mining only
Retinal Dystrophies	Retinal Dystrophy	BEFREE	15258582, 17130236, 17925390, 22065924, 30134391, 31424981		★☆☆☆☆ Found in Text Mining only
Retinal Dystrophies	Retinal Dystrophy	CLINVAR_DG	15258582		★☆☆☆☆ Found in Text Mining only
Retinal Dystrophies	Retinal Dystrophy	CTD_human_DG	18048336		★☆☆☆☆ Found in Text Mining only
Retinal Dystrophies	Retinal Dystrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Retinal Dystrophy, Early Onset Severe	Retinal Dystrophy	BEFREE	30979730, 31237438		★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis Pigmentosa	CTD_human_DG	16968212		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinitis Pigmentosa	Retinitis Pigmentosa	BEFREE	17389517, 18779497, 21151602, 23900199, 31801355		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinitis Pigmentosa	Retinitis Pigmentosa	LHGDN	17512964		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinitis Pigmentosa	Retinitis pigmentosa	Pubtator	17512964, 21151602, 32014858, 34031043, 34216980, 37264419, 37322672, 40296824	Associate	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinitis pigmentosa	Retinitis Pigmentosa	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinitis Pigmentosa	Retinitis Pigmentosa	CLINVAR_DG	30718709		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinitis Pigmentosa	Retinitis Pigmentosa	GENOMICS_ENGLAND_DG	31505163		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
RETINITIS PIGMENTOSA 53	Retinitis Pigmentosa	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Rod-Cone Dystrophy	Rod-cone dystrophy	BEFREE	15322982, 17512964, 30372751		★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	32934959	Associate	★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	40217479	Associate	★☆☆☆☆ Found in Text Mining only
Vision Disorders	Visual disorder	Pubtator	32014858, 37714431	Associate	★☆☆☆☆ Found in Text Mining only