RPE65 (retinoid isomerohydrolase RPE65)

Gene

• Entrez ID: 6121
• Gene name: Retinoid isomerohydrolase RPE65
• Gene symbol: RPE65
• Synonyms (NCBI Gene): BCO3, LCA2, RP20, mRPE65, p63, rd12, sRPE65
• Chromosome: 1
• Chromosome location: 1p31.3
• Summary: The protein encoded by this gene is a component of the vitamin A visual cycle of the retina which supplies the 11-cis retinal chromophore of the photoreceptors opsin visual pigments. It is a member of the carotenoid cleavage oxygenase superfamily. All mem

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs61751276	C>T	Pathogenic-likely-pathogenic, pathogenic, likely-pathogenic	Intron variant
rs61751279	T>A	Not-provided, pathogenic	Splice acceptor variant, intron variant
rs61751281	C>T	Pathogenic	Missense variant, coding sequence variant, intron variant
rs61751282	C>T	Not-provided, likely-pathogenic	Missense variant, coding sequence variant, intron variant
rs61752871	G>A	Pathogenic	5 prime UTR variant, coding sequence variant, missense variant
rs61752877	G>A,T	Not-provided, pathogenic	Stop gained, coding sequence variant, synonymous variant
rs61752883	C>A	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs61752895	G>A	Pathogenic, not-provided	Stop gained, coding sequence variant
rs61752896	A>C,G	Not-provided, pathogenic	Missense variant, coding sequence variant
rs61752902	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs61752904	T>A	Pathogenic	Stop gained, coding sequence variant
rs61752908	C>T	Not-provided, likely-pathogenic	Missense variant, coding sequence variant
rs61752909	A>G	Pathogenic, not-provided	Missense variant, coding sequence variant
rs62636300	T>C	Pathogenic, not-provided	Missense variant, coding sequence variant
rs62637004	A>C	Pathogenic, not-provided	Missense variant, coding sequence variant
rs62642583	AAATTCTGTTATGACGATCC>-	Not-provided, pathogenic	Coding sequence variant, frameshift variant
rs62642584	C>A,T	Pathogenic, likely-pathogenic, not-provided	Missense variant, stop gained, coding sequence variant
rs62653011	A>G	Pathogenic, not-provided	Missense variant, coding sequence variant
rs62653015	C>A,T	Likely-pathogenic	Missense variant, coding sequence variant
rs121917744	G>A,T	Pathogenic	Missense variant, coding sequence variant
rs121917745	G>A	Likely-pathogenic, pathogenic, not-provided	Missense variant, coding sequence variant
rs121918844	A>-,AA	Pathogenic	Frameshift variant, coding sequence variant
rs146357166	G>T	Conflicting-interpretations-of-pathogenicity	Intron variant, synonymous variant, coding sequence variant
rs150260489	T>C	Conflicting-interpretations-of-pathogenicity	Intron variant, synonymous variant, coding sequence variant
rs192907397	C>A,T	Likely-pathogenic	Missense variant, coding sequence variant
rs199683808	G>A,C	Likely-pathogenic	Missense variant, coding sequence variant, 5 prime UTR variant
rs281865520	T>-,TT	Pathogenic, not-provided	Coding sequence variant, frameshift variant
rs368088025	G>A,T	Pathogenic, likely-pathogenic	Intron variant, coding sequence variant, synonymous variant, stop gained
rs747393487	G>-	Pathogenic	Coding sequence variant, frameshift variant, 5 prime UTR variant
rs752058510	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs768445391	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs774130993	C>T	Pathogenic	Coding sequence variant, stop gained
rs777879312	C>A,T	Conflicting-interpretations-of-pathogenicity	Intron variant
rs786205444	C>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs886042807	AA>-	Pathogenic	Intron variant, coding sequence variant, stop gained
rs988133284	G>A,C	Pathogenic	Stop gained, synonymous variant, coding sequence variant
rs1057518922	C>A,T	Pathogenic	Splice donor variant
rs1064795255	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1191496583	C>T	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs1193631220	C>A	Pathogenic	Missense variant, coding sequence variant
rs1420672586	C>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1429137932	C>A	Likely-pathogenic	Missense variant, intron variant, coding sequence variant
rs1553152989	T>C	Pathogenic	Synonymous variant, coding sequence variant
rs1553153243	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1557595199	T>G	Likely-pathogenic	Splice acceptor variant
rs1557600322	T>A,C	Pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs1571158279	T>C	Pathogenic	Coding sequence variant, missense variant
rs1571158755	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1571164333	G>A	Pathogenic	Coding sequence variant, stop gained
rs1571164534	T>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1571165140	->CCA	Likely-pathogenic	Coding sequence variant, inframe insertion
rs1571172233	T>G	Pathogenic	Coding sequence variant, intron variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT018146	hsa-miR-335-5p	Microarray	18185580
MIRT028349	hsa-miR-32-5p	Sequencing	20371350
MIRT1315590	hsa-miR-3140-3p	CLIP-seq
MIRT1315591	hsa-miR-3658	CLIP-seq
MIRT1315592	hsa-miR-935	CLIP-seq
MIRT2093904	hsa-miR-4468	CLIP-seq
MIRT1315592	hsa-miR-935	CLIP-seq
MIRT2614219	hsa-miR-127-5p	CLIP-seq
MIRT2614220	hsa-miR-4264	CLIP-seq
MIRT2614221	hsa-miR-4328	CLIP-seq
MIRT2614222	hsa-miR-4797-3p	CLIP-seq
MIRT2614219	hsa-miR-127-5p	CLIP-seq
MIRT2614220	hsa-miR-4264	CLIP-seq
MIRT2614221	hsa-miR-4328	CLIP-seq
MIRT2614222	hsa-miR-4797-3p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001523	Process	Retinoid metabolic process	IDA	25112876
GO:0001523	Process	Retinoid metabolic process	TAS
GO:0001786	Function	Phosphatidylserine binding	ISS
GO:0001895	Process	Retina homeostasis	IMP	15557452
GO:0003407	Process	Neural retina development	IEA
GO:0003834	Function	Beta-carotene 15,15'-dioxygenase activity	IBA
GO:0005515	Function	Protein binding	IPI	28514442, 33961781
GO:0005634	Component	Nucleus	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IDA	29659842
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006776	Process	Vitamin A metabolic process	TAS	9326941
GO:0007601	Process	Visual perception	IEA
GO:0007601	Process	Visual perception	TAS	9326941
GO:0007623	Process	Circadian rhythm	IEA
GO:0009416	Process	Response to light stimulus	IEA
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	ISS
GO:0016702	Function	Oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0016853	Function	Isomerase activity	IDA	28874556
GO:0016853	Function	Isomerase activity	IEA
GO:0031210	Function	Phosphatidylcholine binding	ISS
GO:0042572	Process	Retinol metabolic process	IEA
GO:0042574	Process	Retinal metabolic process	IBA
GO:0042574	Process	Retinal metabolic process	IEA
GO:0043010	Process	Camera-type eye development	IEA
GO:0044297	Component	Cell body	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0050251	Function	Retinol isomerase activity	IBA
GO:0050908	Process	Detection of light stimulus involved in visual perception	IMP	15557452
GO:0052884	Function	All-trans-retinyl-palmitate hydrolase, 11-cis retinol forming activity	IDA	25112876
GO:0052884	Function	All-trans-retinyl-palmitate hydrolase, 11-cis retinol forming activity	IEA
GO:0052884	Function	All-trans-retinyl-palmitate hydrolase, 11-cis retinol forming activity	TAS
GO:0052885	Function	All-trans-retinyl-ester hydrolase, 11-cis retinol forming activity	IBA
GO:0052885	Function	All-trans-retinyl-ester hydrolase, 11-cis retinol forming activity	IEA
GO:0052885	Function	All-trans-retinyl-ester hydrolase, 11-cis retinol forming activity	ISS
GO:1901612	Function	Cardiolipin binding	ISS
GO:1901827	Process	Zeaxanthin biosynthetic process	IBA
GO:1901827	Process	Zeaxanthin biosynthetic process	IDA	28874556

Other IDs

• MIM: 180069
• HGNC: 10294
• e!Ensembl: ENSG00000116745

Protein

• UniProt ID: Q16518
• Protein name: Retinoid isomerohydrolase (EC 3.1.1.64) (All-trans-retinyl-palmitate hydrolase) (Lutein isomerase) (Meso-zeaxanthin isomerase) (EC 5.3.3.22) (Retinal pigment epithelium-specific 65 kDa protein) (Retinol isomerase)
• Protein function: Critical isomerohydrolase in the retinoid cycle involved in regeneration of 11-cis-retinal, the chromophore of rod and cone opsins. Catalyzes the cleavage and isomerization of all-trans-retinyl fatty acid esters to 11-cis-retinol which is furthe
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF03055	RPE65	15 → 532	Retinal pigment epithelial membrane protein	Family

• Tissue specificity: TISSUE SPECIFICITY: Retina (at protein level). Retinal pigment epithelium specific. {ECO:0000269|PubMed:17848510, ECO:0000269|PubMed:21493626}.
• Sequence:

  MSIQVEHPAGGYKKLFETVEELSSPLTAHVTGRIPLWLTGSLLRCGPGLFEVGSEPFYHL
  FDGQALLHKFDFKEGHVTYHRRFIRTDAYVRAMTEKRIVITEFGTCAFPDPCKNIFSRFF
  SYFRGVEVTDNALVNVYPVGEDYYACTETNFITKINPETLETIKQVDLCNYVSVNGATAH
  PHIENDGTVYNIGNCFGKNFSIAYNIVKIPPLQADKEDPISKSEIVVQFPCSDRFKPSYV
  HSFGLTPNYIVFVETPVKINLFKFLSSWSLWGANYMDCFESNETMGVWLHIADKKRKKYL
  NNKYRTSPFNLFHHINTYEDNGFLIVDLCCWKGFEFVYNYLYLANLRENWEEVKKNARKA
  PQPEVRRYVLPLNIDKADTGKNLVTLPNTTATAILCSDETIWLEPEVLFSGPRQAFEFPQ
  INYQKYCGKPYTYAYGLGLNHFVPDRLCKLNVKTKETWVWQEPDSYPSEPIFVSHPDALE
  EDDGVVLSVVVSPGAGQKPAYLLILNAKDLSEVARAEVEINIPVTFHGLFKKS

• Sequence length: 533

Pathways

KEGG:

Retinol metabolism
Metabolic pathways

Reactome:

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
Abnormal electroretinogram	Pathogenic	rs1057518922	RCV000415360	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Abnormality of the eye	Likely pathogenic; Pathogenic	rs1375943362, rs61752871	RCV001814345 RCV001813981	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Abnormality of vision	Pathogenic	rs1057518922	RCV000415360	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Autism	Pathogenic	rs1571164333	RCV001003571	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Autosomal recessive retinitis pigmentosa	Pathogenic; Likely pathogenic	rs61751282, rs61752884, rs786205444, rs61752871, rs1645879569, rs1645826941, rs1645898413, rs767478543	RCV001257816 RCV001257821 RCV001257817 RCV001257818 RCV001257822 RCV001257815 RCV001257820 RCV001257819	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cone-rod dystrophy	Likely pathogenic	rs767528365	RCV000678616	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Congenital blindness	Pathogenic	rs1057518922	RCV000415360	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Congenital isolated adrenocorticotropic hormone deficiency	Pathogenic	rs988133284	RCV000754599	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Global developmental delay	Pathogenic	rs1571164333	RCV001003571	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Leber congenital amaurosis	Pathogenic; Likely pathogenic	rs281865520, rs61751276, rs61751281, rs62636298, rs62636299, rs61751282, rs62653015, rs61752866, rs61752873, rs62642583, rs281865285, rs62642584, rs61752877, rs61752883, rs61751277, rs61752896, rs61751279, rs61752905, rs61752908, rs2100806889, rs2100827985, rs1357241537, rs1344724754, rs768448761, rs2100831413, rs1348031618, rs1375943362, rs936592713, rs1204023432, rs767478543, rs2523402677, rs61752891, rs61752895, rs61752871, rs121917744, rs61752909, rs121917745, rs2523403039, rs2100821857, rs61752902, rs368088025, rs62653011, rs62636300, rs1420672586, rs1553152989, rs199683808, rs1191496583, rs192907397, rs121918844, rs1429137932, rs1395763356, rs774130993, rs752058510, rs1571172233, rs768445391, rs34627040, rs1444234037, rs1171545533, rs373652862, rs750724065, rs778768116, rs1201299067, rs905365719, rs1645945363	RCV001826772 RCV001275342 RCV001275340 RCV002509207 RCV004767068 RCV001275338 RCV001826773 RCV005237530 RCV001275336 RCV000754976 RCV005606645 RCV001275333 RCV001275332 RCV001831894 RCV002222384 RCV001831895 RCV001003189 RCV003323394 RCV005606646 RCV001831334 RCV001826126 RCV004801002 RCV005606818 RCV001826156 RCV004690118 RCV004699598 RCV003987987 RCV005239635 RCV005608895 RCV005239705 RCV005608849 RCV003226664 RCV001831567 RCV001095690 RCV001826460 RCV001831568 RCV001826461 RCV005240933 RCV004586291 RCV001275330 RCV001275339 RCV001275328 RCV003317042 RCV000515733 RCV000515747 RCV001834621 RCV000754974 RCV000754973 RCV000754975 RCV000754977 RCV004702311 RCV001830624 RCV001830793 RCV003324538 RCV001003188 RCV001199757 RCV001836068 RCV001827346 RCV005408682 RCV005408752 RCV001833815 RCV001829042 RCV001833994 RCV001830054 RCV002307711 RCV005606796	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Leber congenital amaurosis 2	Pathogenic; Likely pathogenic	rs281865520, rs62646883, rs61751276, rs61751281, rs62636295, rs62636298, rs62636299, rs61751282, rs61752865, rs62637006, rs62637007, rs62653015, rs281865292, rs61752866, rs61752869, rs61752873, rs62642583, rs281865285, rs62642584, rs61752875, rs61752877, rs61752880, rs61752882, rs281865288, rs61752883, rs61752884, rs61752888, rs61752891, rs61751277, rs61752896, rs61752899, rs281865289, rs61752903, rs281865286, rs61751279, rs61752905, rs61752906, rs61752908, rs2100806889, rs1421696563, rs2100821984, rs2100827985, rs1357241537, rs774211361, rs1395763356, rs2100817136, rs2100818444, rs2100818575, rs746127684, rs2100819190, rs777966849, rs1459110114, rs1344724754, rs768448761, rs758550330, rs2100831413, rs2100819756, rs2100805351, rs2100818777, rs2100819151, rs2100834154, rs1317871521, rs2100805193, rs2100827990, rs1348031618, rs1645879495, rs2100807036, rs2100817031, rs56021047, rs121918844, rs2100804954, rs1355979496, rs1202384396, rs1194458561, rs2100819197, rs2100821898, rs2100828545, rs1645928294, rs1260969698, rs2100816844, rs2100821707, rs866809120, rs1375943362, rs761471961, rs1366781286, rs936592713, rs2523458378, rs1204023432, rs767478543, rs764189309, rs1289316104, rs2523396904, rs2523423130, rs1422501788, rs2523424941, rs1645885777, rs748096417, rs1355323529, rs2523402677, rs878853372, rs2523452284, rs886042220, rs61752895, rs61752871, rs62637004, rs121917744, rs61752909, rs121917745, rs2523458090, rs2523401947, rs2523426253, rs2523423097, rs1480368460, rs2523423126, rs2523425413, rs2523445043, rs1173011770, rs61752876, rs764160079, rs2523396663, rs2523432498, rs1233702775, rs2523425771, rs1645823354, rs2523426837, rs1400678650, rs61752892, rs2523403039, rs1479443954, rs2523432202, rs1645959896, rs2523452134, rs1448061146, rs974466164, rs2523452435, rs2523426757, rs2523401629, rs2523426491, rs2523423116, rs2523458600, rs1557600450, rs2523432243, rs1294621553, rs763437650, rs980844308, rs2523402528, rs988133284, rs2523404458, rs2100821857, rs61752902, rs1057518922, rs368088025, rs62653011, rs61752904, rs62636300, rs1064795255, rs1420672586, rs1553152989, rs199683808, rs1191496583, rs1553153243, rs1169420841, rs1553153135, rs192907397, rs1429137932, rs747393487, rs1557595199, rs1571170561, rs774130993, rs1571165140, rs1571158279, rs1193631220, rs1571158755, rs1571164534, rs752058510, rs768445391, rs749242996, rs34627040, rs1645898563, rs1645945978, rs562037932, rs1444234037, rs1645823028, rs1645824187, rs774309607, rs1015895028, rs1171545533, rs373652862, rs1645896934, rs1645882447, rs1645898265, rs1469460289, rs750724065, rs778768116, rs1645806893, rs1557595745, rs1645826120, rs1645879569, rs1645880232, rs1645880293, rs1645883131, rs1645885900, rs1189903735, rs1645927790, rs1201299067, rs1645928251, rs1645945582, rs1645945599, rs1645945643, rs1645882103, rs905365719, rs1645945363	RCV000013992 RCV001854496 RCV000022752 RCV001047503 RCV001383021 RCV001041992 RCV001323215 RCV000701390 RCV001250677 RCV001250694 RCV001250706 RCV001250703 RCV003764789 RCV003466999 RCV003764790 RCV001061074 RCV001250683 RCV000815030 RCV001377675 RCV005031580 RCV000763389 RCV001588914 RCV000538669 RCV001854498 RCV001250685 RCV001857420 RCV001250708 RCV001250687 RCV001388257 RCV001388255 RCV003467001 RCV001218527 RCV000678618 RCV001250702 RCV001270786 RCV002226457 RCV003467002 RCV004566980 RCV000668398 RCV001089895 RCV003467003 RCV001250691 RCV001376939 RCV001378085 RCV001379142 RCV001377276 RCV001379122 RCV001383020 RCV001381888 RCV001384746 RCV001380833 RCV001382384 RCV001385212 RCV001383023 RCV001384685 RCV001389735 RCV001388256 RCV001380404 RCV001380405 RCV001382080 RCV001591854 RCV001591855 RCV001591856 RCV001591859 RCV001591861 RCV001682631 RCV003120686 RCV002004304 RCV001924893 RCV002038812 RCV001963808 RCV001993735 RCV002037689 RCV001999881 RCV001999882 RCV001941811 RCV001963988 RCV001935730 RCV001953857 RCV001953858 RCV002030369 RCV001982688 RCV001892333 RCV002007617 RCV001942144 RCV002031094 RCV001941576 RCV001950064 RCV001958678 RCV001895237 RCV001866871 RCV002226568 RCV003096295 RCV003068133 RCV003065733 RCV003061518 RCV003088739 RCV002620275 RCV002634293 RCV002634294 RCV002824485 RCV002829784 RCV002847075 RCV002862290 RCV002885100 RCV002894779 RCV002998800 RCV003007948 RCV003032078 RCV003059569 RCV003052506 RCV003765455 RCV003778716 RCV003466042 RCV004567825 RCV000013993 RCV000527143 RCV001304649 RCV000815732 RCV000986328 RCV000014000 RCV003466241 RCV003466242 RCV003466244 RCV003466245 RCV003466246 RCV003466247 RCV003466248 RCV003466249 RCV003466251 RCV003466252 RCV003466253 RCV003466255 RCV003466256 RCV003466257 RCV003466258 RCV003781938 RCV003782954 RCV003780947 RCV003782613 RCV003795314 RCV003790390 RCV003794227 RCV003806552 RCV003803495 RCV003805986 RCV003800562 RCV003801208 RCV003795144 RCV003800197 RCV003800646 RCV003800675 RCV003800685 RCV003800751 RCV003808996 RCV003809233 RCV003804670 RCV003817740 RCV003815220 RCV003807241 RCV003805052 RCV005038624 RCV004573380 RCV004574793 RCV004574794 RCV004574795 RCV005038731 RCV001225799 RCV001066256 RCV000528380 RCV000022750 RCV000022753 RCV000022754 RCV005398695 RCV001245608 RCV002248718 RCV001250673 RCV000542372 RCV000626100 RCV000672144 RCV000672055 RCV001244442 RCV001387317 RCV001098872 RCV000678615 RCV000689657 RCV001382566 RCV000812394 RCV000761520 RCV002535759 RCV001089892 RCV000815733 RCV001068036 RCV000986326 RCV000986327 RCV000986329 RCV000986330 RCV003769401 RCV001208105 RCV001054425 RCV001054822 RCV001039691 RCV001051752 RCV002554658 RCV001089888 RCV001089890 RCV001862663 RCV001206190 RCV001089893 RCV001212438 RCV001206748 RCV001210075 RCV001250705 RCV001227820 RCV001238369 RCV001245546 RCV001243775 RCV001230466 RCV001250710 RCV001250695 RCV001250701 RCV001250692 RCV001250690 RCV001250689 RCV001250709 RCV001250699 RCV001250686 RCV001250707 RCV001250704 RCV001250696 RCV001250678 RCV001250680 RCV001250679 RCV001250688 RCV001250681 RCV005225342	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Melanoma	Pathogenic	rs768448761	RCV005912628	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodevelopmental disorder	Likely pathogenic; Pathogenic	rs1571158279	RCV002279647	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nystagmus	Pathogenic	rs1571164333	RCV001003571	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinal degeneration	Pathogenic	rs1057518922	RCV000415360	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinal disorder	Likely pathogenic	rs62653015	RCV006445503	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinal dystrophy	Pathogenic; Likely pathogenic	rs61751276, rs61751281, rs62636295, rs62636299, rs61752873, rs281865285, rs62642584, rs61752877, rs62642582, rs61751279, rs61752906, rs121918844, rs878853372, rs61752895, rs61752871, rs61752909, rs121917745, rs1645822647, rs61752902, rs1057518922, rs368088025, rs62653011, rs199683808, rs988133284, rs281865520, rs774130993, rs1571158279, rs1571164333, rs768445391, rs1645824260, rs562037932, rs886042220, rs1444234037, rs905365719	RCV000505050 RCV001074416 RCV004815047 RCV001074061 RCV004815048 RCV004815049 RCV004815050 RCV003888467 RCV001075170 RCV001074560 RCV001074533 RCV004794565 RCV000225374 RCV004794340 RCV001073556 RCV004814898 RCV003887868 RCV003890693 RCV001074534 RCV004816644 RCV003889879 RCV004814916 RCV000504723 RCV004817950 RCV001074144 RCV001075233 RCV001074701 RCV001003571 RCV001073324 RCV001074419 RCV001073373 RCV001074561 RCV001073555 RCV004813910 RCV004814022	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinitis pigmentosa	Pathogenic; Likely pathogenic	rs61751281, rs61752873, rs61752871, rs121917745, rs368088025, rs62653011, rs199683808, rs1429137932, rs988133284, rs1571170561, rs752058510, rs1557600322, rs1645824187	RCV000132582 RCV001731373 RCV000787698 RCV000132583 RCV000787883 RCV000787920 RCV001724032 RCV001098873 RCV001731903 RCV000787882 RCV003324537 RCV001003187 RCV001102321	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinitis pigmentosa 20	Pathogenic; Likely pathogenic	rs281865520, rs62646883, rs61751276, rs61751281, rs62636295, rs62636298, rs62636299, rs61751282, rs62637006, rs62637007, rs62653015, rs281865292, rs61752869, rs61752873, rs62642583, rs281865285, rs62642584, rs61752877, rs61752880, rs281865288, rs61752883, rs61752884, rs61752888, rs61751277, rs61752896, rs61752899, rs281865286, rs61751279, rs61752905, rs61752906, rs61752908, rs2100806889, rs1421696563, rs2100821984, rs2100827985, rs1357241537, rs774211361, rs1395763356, rs2100817136, rs2100818444, rs2100818575, rs746127684, rs2100819190, rs777966849, rs1459110114, rs1344724754, rs768448761, rs758550330, rs2100806806, rs2100831413, rs1235881190, rs1317871521, rs2100805193, rs2100827990, rs1348031618, rs1645879495, rs2100807036, rs2100817031, rs56021047, rs121918844, rs2100804954, rs61752891, rs1355979496, rs1202384396, rs1194458561, rs2100819197, rs2100821898, rs2100828545, rs1645928294, rs1260969698, rs2100816844, rs2100821707, rs866809120, rs1375943362, rs761471961, rs2523451761, rs1366781286, rs936592713, rs2523458378, rs1204023432, rs61752875, rs767478543, rs764189309, rs1289316104, rs2523396904, rs2523423130, rs1422501788, rs2523424941, rs1645885777, rs748096417, rs1355323529, rs2523402677, rs878853372, rs2523452284, rs886042220, rs61752895, rs61752871, rs62637004, rs121917744, rs61752909, rs121917745, rs1645823354, rs2523426837, rs1400678650, rs61752892, rs2523403039, rs1479443954, rs2523432202, rs1645959896, rs2523452134, rs1448061146, rs974466164, rs2523452435, rs2523426757, rs2523401629, rs2523426491, rs2523423116, rs2523458600, rs1557600450, rs2523432243, rs1294621553, rs763437650, rs980844308, rs2523402528, rs1173011770, rs2100821857, rs61752902, rs1057518922, rs368088025, rs62653011, rs61752904, rs62636300, rs1064795255, rs1420672586, rs1553152989, rs199683808, rs1191496583, rs1169420841, rs1553153135, rs192907397, rs1429137932, rs747393487, rs988133284, rs1571170561, rs774130993, rs1571165140, rs1571158279, rs1571158755, rs752058510, rs768445391, rs749242996, rs34627040, rs1645898563, rs1645945978, rs562037932, rs1444234037, rs1645823028, rs1645824187, rs774309607, rs1171545533, rs373652862, rs1645896934, rs1645882447, rs1645898265, rs1469460289, rs750724065, rs778768116, rs1557595745, rs1645879569, rs1645885900, rs1189903735, rs1201299067, rs905365719, rs1645945363	RCV001383022 RCV001854496 RCV000524808 RCV001047503 RCV001383021 RCV001041992 RCV001323215 RCV000701390 RCV002513922 RCV004786365 RCV001854497 RCV003764789 RCV003764790 RCV001061074 RCV000815030 RCV001376504 RCV005031580 RCV000763389 RCV000538669 RCV001854498 RCV001857420 RCV000678617 RCV001388257 RCV001388255 RCV001218527 RCV001207227 RCV001388254 RCV002513924 RCV001376508 RCV000668398 RCV001854499 RCV001233846 RCV000808234 RCV001376939 RCV001378085 RCV001379142 RCV001377276 RCV001379122 RCV001383020 RCV001381888 RCV001384746 RCV001380833 RCV001382384 RCV001385212 RCV001383023 RCV001384685 RCV001389735 RCV001388256 RCV001380404 RCV001380405 RCV001382080 RCV001591853 RCV005038270 RCV001591858 RCV001775532 RCV002004304 RCV001924893 RCV002038812 RCV001963808 RCV001993735 RCV002037689 RCV001999881 RCV001999882 RCV001941811 RCV001963988 RCV001935730 RCV001953857 RCV001953858 RCV002030369 RCV001982688 RCV001892333 RCV002007617 RCV001942144 RCV002031094 RCV001941576 RCV001950064 RCV001958678 RCV001895237 RCV001866871 RCV003101291 RCV003096295 RCV002281669 RCV003068133 RCV003065733 RCV003061518 RCV003088739 RCV002620275 RCV002634293 RCV002634294 RCV002824485 RCV002829784 RCV002847075 RCV002862290 RCV002885100 RCV002894779 RCV002998800 RCV003007948 RCV003032078 RCV003059569 RCV003052506 RCV003765455 RCV003778716 RCV003779809 RCV002519096 RCV001236263 RCV000013994 RCV000013995 RCV000013996 RCV000013997 RCV000013999 RCV003781938 RCV003782954 RCV003780947 RCV003782613 RCV003795314 RCV003790390 RCV003794227 RCV003806552 RCV003803495 RCV003805986 RCV003800562 RCV003801208 RCV003795144 RCV003800197 RCV003800646 RCV003800675 RCV003800685 RCV003800751 RCV003808996 RCV003809233 RCV003804670 RCV003817740 RCV003815220 RCV003807241 RCV003805052 RCV005038624 RCV005023574 RCV005038731 RCV001225799 RCV001198362 RCV000528380 RCV000022749 RCV002490403 RCV001054426 RCV005398695 RCV001245608 RCV001865522 RCV001377674 RCV000542372 RCV000672144 RCV000672055 RCV001244442 RCV001387317 RCV001053470 RCV001868293 RCV000689657 RCV001382566 RCV000812394 RCV002535759 RCV000817537 RCV000815733 RCV001068036 RCV001858636 RCV001219364 RCV003769401 RCV001029769 RCV001054425 RCV001054822 RCV001039691 RCV001051752 RCV002554658 RCV002554669 RCV001201914 RCV001862663 RCV001206190 RCV001212438 RCV001206748 RCV001210075 RCV001224577 RCV001227820 RCV001238369 RCV001245546 RCV001243775 RCV001230466 RCV001339011 RCV002570429 RCV001390652 RCV003770301 RCV001388258 RCV002570428 RCV005225342	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinitis pigmentosa 87 with choroidal involvement	Pathogenic; Likely pathogenic	rs61751276, rs61751281, rs62636299, rs62653015, rs61752873, rs62642583, rs281865285, rs62642584, rs61752877, rs61752883, rs61752896, rs281865286, rs61751279, rs746127684, rs758550330, rs2100831413, rs2100817031, rs1289316104, rs61752871, rs62637004, rs121917744, rs61752909, rs2523402528, rs1173011770, rs2100821857, rs61752902, rs1057518922, rs62653011, rs61752904, rs1064795255, rs199683808, rs1169420841, rs192907397, rs774130993, rs1571158279, rs768445391, rs774309607, rs878853372, rs1201299067, rs905365719	RCV002498448 RCV002498450 RCV005025143 RCV005025144 RCV005031578 RCV005031579 RCV005025145 RCV005031580 RCV002490740 RCV005031581 RCV005357534 RCV005031582 RCV002498451 RCV005023138 RCV005038182 RCV005038270 RCV004796689 RCV005027984 RCV005031436 RCV005025051 RCV005025052 RCV002496352 RCV005038624 RCV005023574 RCV005038731 RCV005033939 RCV005033948 RCV005025077 RCV002490403 RCV005398695 RCV002496962 RCV005034264 RCV005034282 RCV005029504 RCV000927801 RCV005036298 RCV005036393 RCV005036492 RCV002499440 RCV002480862	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Rod-cone dystrophy	Pathogenic	rs1571164333	RCV001003571	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
RPE65-related disorder	Pathogenic; Likely pathogenic	rs61751276, rs61751282, rs62642584, rs61752877, rs61752883, rs61752871, rs368088025, rs62653011, rs62636300, rs281865520, rs1571158279, rs752058510	RCV004732661 RCV004528783 RCV001249229 RCV005867891 RCV000778252 RCV001095690 RCV001249416 RCV000348257 RCV004732553 RCV004733037 RCV001034696 RCV002255100	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
RPE65-related recessive retinopathy	Pathogenic; Likely pathogenic	rs281865520, rs62646883, rs61751276, rs62653012, rs61751281, rs62636295, rs62636299, rs61751282, rs61752865, rs62637007, rs62653015, rs61752866, rs61752869, rs61752873, rs62642583, rs62642584, rs61752875, rs61752877, rs61752880, rs61752882, rs281865288, rs61752883, rs61752884, rs61752888, rs61751277, rs61752896, rs63749059, rs281865289, rs281865286, rs61751279, rs61752906, rs61752908, rs2100821984, rs1395763356, rs746127684, rs1459110114, rs1344724754, rs2100831413, rs2100818777, rs1317871521, rs2100805193, rs1645879495, rs2100807036, rs2100817031, rs2100804954, rs1194458561, rs1375943362, rs936592713, rs748096417, rs2523402677, rs878853372, rs886042220, rs61752895, rs61752871, rs62637004, rs121917744, rs61752909, rs121917745, rs2523445043, rs1645959896, rs2523404003, rs2100816844, rs2523444526, rs2523402528, rs2523432243, rs988133284, rs2100806802, rs1315607990, rs2523431817, rs2523426476, rs1459522532, rs2523403024, rs2523396890, rs61752902, rs1057518922, rs368088025, rs62653011, rs61752904, rs62636300, rs1064795255, rs1420672586, rs1553152989, rs199683808, rs1191496583, rs1169420841, rs1553153135, rs121918844, rs1429137932, rs767528365, rs1571170561, rs774130993, rs1571165140, rs114379164, rs1193631220, rs752058510, rs1571164333, rs749242996, rs34627040, rs562037932, rs1444234037, rs1645823028, rs1645824187, rs774309607, rs1015895028, rs1171545533, rs373652862, rs1645898265, rs750724065, rs1645806893, rs1557595745, rs1645826120, rs1645883131, rs1189903735, rs1645927790, rs1201299067, rs1645945599, rs905365719, rs1645826941, rs1645898413, rs767478543	RCV002466426 RCV004801916 RCV003460766 RCV003764785 RCV004527312 RCV005252749 RCV003764786 RCV005620901 RCV004595853 RCV003764787 RCV003764788 RCV005425724 RCV004801917 RCV003764791 RCV005425725 RCV003764792 RCV003764793 RCV005425726 RCV003764794 RCV004595854 RCV005620902 RCV003460769 RCV004527316 RCV004527317 RCV003460770 RCV003764796 RCV003764797 RCV004527319 RCV004527320 RCV003764798 RCV003460771 RCV004527321 RCV005620903 RCV003462960 RCV003771239 RCV003462987 RCV004527424 RCV003771233 RCV003771781 RCV003771782 RCV004527431 RCV004527436 RCV003773037 RCV004527440 RCV004527441 RCV005253993 RCV004527438 RCV004527444 RCV004801943 RCV005425068 RCV003777039 RCV004527450 RCV005252828 RCV003765588 RCV003460467 RCV004595852 RCV004801914 RCV003460468 RCV003764564 RCV003764565 RCV004595864 RCV004527467 RCV003881699 RCV003881701 RCV003881702 RCV003881703 RCV003881704 RCV003881705 RCV004527499 RCV004527500 RCV004527501 RCV004527502 RCV004527503 RCV004527504 RCV004595872 RCV003766145 RCV005252881 RCV002466496 RCV003764626 RCV003764627 RCV003764628 RCV003766693 RCV003766756 RCV004527377 RCV004527379 RCV003767007 RCV004801923 RCV004527392 RCV003768021 RCV004527393 RCV004801924 RCV003768029 RCV003768223 RCV004595858 RCV003461248 RCV003768526 RCV003768834 RCV005427492 RCV003769292 RCV004595860 RCV004527406 RCV005253695 RCV004527410 RCV004801928 RCV003768999 RCV004801929 RCV003769013 RCV003769014 RCV004801930 RCV004595861 RCV004801931 RCV005633937 RCV005253749 RCV003770275 RCV004801934 RCV005621091 RCV005428154 RCV005253769 RCV005621090 RCV005621087 RCV005621089 RCV005621088 RCV005253768 RCV003770300 RCV004801935 RCV005253773 RCV005428156	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
AMAUROSIS CONGENITA OF LEBER, TYPE 2	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISTIC DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BLINDNESS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BLINDNESS AND LOW VISION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONE-ROD DYSTROPHIES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cone-rod dystrophy 15	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
CONGENITAL NYSTAGMUS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EYE DISEASES, HEREDITARY	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLAUCOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Joubert syndrome 9	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NYSTAGMUS, CONGENITAL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OPEN-ANGLE GLAUCOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OPTIC ATROPHY, HEREDITARY, LEBER	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RETINITIS PIGMENTOSA 1	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Retinitis Pigmentosa, Recessive	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RPE65-RELATED DOMINANT RETINOPATHY	—	ClinGen, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STARGARDT DISEASE 1	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
ACTH Deficiency, Isolated	ACTH Deficiency	CLINVAR_DG	30576320		★☆☆☆☆ Found in Text Mining only
Actinic keratosis	Actinic keratosis	BEFREE	16181461		★☆☆☆☆ Found in Text Mining only
Acute Promyelocytic Leukemia	Promyelocytic Leukemia	BEFREE	24481878		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	11727253, 14562279, 14612504, 15551738, 16575619, 16884378, 20332665, 22935826, 24166777, 24194854, 25189640, 25982011, 27889037, 28394798, 28417484, 28498881, 28730709, 29848682, 31206846, 31653135		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of large intestine	Colorectal Cancer	BEFREE	11727253		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	25189640, 26603857		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of prostate	Prostate adenocarcinoma	BEFREE	29894516		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma, Clear Cell	Adenocarcinoma	BEFREE	16445626		★☆☆☆☆ Found in Text Mining only
Adenoid Cystic Carcinoma	Adenocarcinoma	BEFREE	31653135		★☆☆☆☆ Found in Text Mining only
Adenoma of large intestine	Colorectal adenoma	BEFREE	16575619		★☆☆☆☆ Found in Text Mining only
Adult Diffuse Large B-Cell Lymphoma	B-cell Lymphoma	BEFREE	26332336, 31711519		★☆☆☆☆ Found in Text Mining only
ADULT SYNDROME	ADULT Syndrome	BEFREE	11929852, 16724007, 17041931, 18388131, 19781362, 20543567, 23407076		★☆☆☆☆ Found in Text Mining only
Age related macular degeneration	Age-related macular degeneration	BEFREE	28202390		★☆☆☆☆ Found in Text Mining only
Amaurosis	Amaurosis	CTD_human_DG	16150724, 16226919		★☆☆☆☆ Found in Text Mining only
Amaurosis congenita of Leber type 1	Leber congenital amaurosis	Pubtator	34289237	Associate	★☆☆☆☆ Found in Text Mining only
Amaurosis congenita of Leber type 2	Leber congenital amaurosis	Pubtator	18441370, 21606598, 22171060, 23474247, 36225124, 38631180	Associate	★☆☆☆☆ Found in Text Mining only
Amaurosis congenita of Leber, type 1	Leber congenital amaurosis	BEFREE	10766140, 12015276, 14611946, 14962443, 15106616, 15765048, 15837919, 16828753, 17594175, 17724218, 17848510, 17960108, 18484312, 18539930, 18632300, 18766986, 18774912, 18809924, 19117922, 19339306, 19805034, 20079931, 20399883, 20484585, 21299439, 21555576, 21602930, 21654732, 22231356, 22509104, 22953002, 23335596, 23341016, 23341635, 24066033, 24664772, 24702845, 25495949, 25537204, 25635059, 27686653, 29033008, 29133760, 29721936, 30195768, 30695025, 30870047, 31273949, 31572124, 31604676, 31671202, 9501220		★☆☆☆☆ Found in Text Mining only
Ameloblastoma	Ameloblastoma	BEFREE	15752257, 28390135, 31187467		★☆☆☆☆ Found in Text Mining only
Amelogenesis Imperfecta	Amelogenesis imperfecta	BEFREE	16546853		★☆☆☆☆ Found in Text Mining only
Anaplasia	Anaplasia	BEFREE	10594758		★☆☆☆☆ Found in Text Mining only
Anaplastic carcinoma	Anaplastic Carcinoma	BEFREE	12234063		★☆☆☆☆ Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	22053213		★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	BEFREE	30580197		★☆☆☆☆ Found in Text Mining only
Anxiety Disorders	Anxiety Disorder	BEFREE	30580197		★☆☆☆☆ Found in Text Mining only
Arrhythmogenic Right Ventricular Dysplasia	Arrhythmogenic right ventricular cardiomyopathy	BEFREE	18603493		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	23837456, 26315281		★☆☆☆☆ Found in Text Mining only
Ataxia Telangiectasia	Ataxia Telangiectasia	BEFREE	24482479		★☆☆☆☆ Found in Text Mining only
Ataxia, Spinocerebellar	Spinocerebellar Ataxia	BEFREE	16020312		★☆☆☆☆ Found in Text Mining only
Atrophy	Atrophy	Pubtator	11264131, 32014860, 36142423	Associate	★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune disease	Pubtator	16030131	Associate	★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	12838557, 16918993, 26332336, 31831043		★☆☆☆☆ Found in Text Mining only
Barrett Esophagus	Barrett esophagus	BEFREE	11727253, 14562279, 21703447		★☆☆☆☆ Found in Text Mining only
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE	Bestrophinopathy	BEFREE	29540715		★☆☆☆☆ Found in Text Mining only
Bladder Exstrophy and Epispadias Complex	Bladder Exstrophy And Epispadias Complex	BEFREE	23913486		★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	10910040, 12368193, 22253920, 22361733, 24213852, 28794159, 29956121, 30104251		★☆☆☆☆ Found in Text Mining only
Blindness	Blindness	Pubtator	14611946, 19583479, 20043869, 22323828, 27375040, 32034665, 32879773, 35129589	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Blindness, Acquired	Blindness	CTD_human_DG	16150724, 16226919		★☆☆☆☆ Found in Text Mining only
Blindness, Legal	Blindness	CTD_human_DG	16150724, 16226919		★☆☆☆☆ Found in Text Mining only
Blindness, Monocular	Blindness	CTD_human_DG	16150724, 16226919		★☆☆☆☆ Found in Text Mining only
Bone Diseases	Bone disease	Pubtator	11264131, 33952291	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	12007564, 12653579, 14689049, 15489655, 15849742, 17639392, 19173015, 20225093, 20552547, 23548208, 24316488, 27555661, 28349272, 29484502, 31524947		★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	10897041, 10910040, 11358835, 11381365, 11592094, 11948487, 11956072, 12185332, 12358808, 14654529, 15183414, 15489655, 15752257, 16445626, 17385050, 17460449, 20225093, 21765392, 26330357, 26406948, 26988609, 27060708, 28236059, 30258209		★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	12368193, 14654529, 22253920, 22361733, 24213852, 28794159, 29956121, 30104251		★☆☆☆☆ Found in Text Mining only
Carcinoma of larynx	Laryngeal carcinoma	BEFREE	15768819		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	14612504, 15466179, 20332665, 22441934, 25982011		★☆☆☆☆ Found in Text Mining only
Carcinoma, Basal Cell	Carcinoma	BEFREE	11532371, 12358808, 16181461, 26068789, 31278765		★☆☆☆☆ Found in Text Mining only
Carcinoma, Neuroendocrine	Carcinoma	BEFREE	11381365		★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	23095717		★☆☆☆☆ Found in Text Mining only
Carcinoma, Spindle-Cell	Carcinoma	BEFREE	24418859, 28821190		★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	16884378, 20442293, 30973901		★☆☆☆☆ Found in Text Mining only
Cervix carcinoma	Cervix carcinoma	BEFREE	10568821, 20442293, 21980285, 30973901, 31211485		★☆☆☆☆ Found in Text Mining only
Chondroblastoma	Chondroblastoma	BEFREE	18192965		★☆☆☆☆ Found in Text Mining only
Chondrosarcoma	Chondrosarcoma	BEFREE	29441939		★☆☆☆☆ Found in Text Mining only
Choriocarcinoma	Choriocarcinoma	BEFREE	16979518, 30359635		★☆☆☆☆ Found in Text Mining only
Choroideremia	Choroideremia	BEFREE	27307694, 29947567		★☆☆☆☆ Found in Text Mining only
Choroideremia	Choroideremia	Pubtator	27307694, 29947567	Associate	★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	21906144, 30447004		★☆☆☆☆ Found in Text Mining only
Ciliopathies	Ciliopathies	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	22155142		★☆☆☆☆ Found in Text Mining only
Color Vision Defects	Color vision deficiency	Pubtator	29332120	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	16575619, 30393117, 31056618		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	BEFREE	16575619		★☆☆☆☆ Found in Text Mining only
Comedone	Comedone	BEFREE	23548208		★☆☆☆☆ Found in Text Mining only
Conductive hearing loss	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cone Dystrophy	Cone dystrophy	Pubtator	18599565	Associate	★☆☆☆☆ Found in Text Mining only
Congenital Amaurosis of Retinal Origin	Dysgenesis Neuroepithelialis Retinae	CTD_human_DG	19339306, 9326927, 9501220		★☆☆☆☆ Found in Text Mining only
Congenital ankyloblepharon	Congenital Ankyloblepharon	BEFREE	12692135, 12766194, 12932250, 17164413, 21965674, 22329826, 23407076		★☆☆☆☆ Found in Text Mining only
Congenital blindness	Congenital blindness	BEFREE	31043342		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Congenital blindness	Congenital blindness	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Congenital cerebral hernia	Congenital Cerebral Hernia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital Foot Deformity	Congenital deformity of foot	BEFREE	11787035, 17915261		★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of penis	Congenital Hypoplasia Of Penis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	29716728		★☆☆☆☆ Found in Text Mining only
Craniopharyngioma	Craniopharyngioma	BEFREE	20128632		★☆☆☆☆ Found in Text Mining only
Craniosynostosis	Craniosynostosis	BEFREE	30925220		★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	29442026		★☆☆☆☆ Found in Text Mining only
Dermatitis, Atopic	Dermatitis	BEFREE	26768665		★☆☆☆☆ Found in Text Mining only
Dermatologic disorders	Dermatologic Disorders	BEFREE	15248062		★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Development Disorder	BEFREE	23355676, 31413199		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Diabetic Retinopathy	Diabetic Retinopathy	BEFREE	18837956		★☆☆☆☆ Found in Text Mining only
Diabetic Retinopathy	Diabetic retinopathy	Pubtator	37318461	Associate	★☆☆☆☆ Found in Text Mining only
Diffuse Large B-Cell Lymphoma	Diffuse Lymphoma	BEFREE	26332336, 31711519		★☆☆☆☆ Found in Text Mining only
Disorder of eye	Disorder Of Eye	BEFREE	24702846, 31273949		★☆☆☆☆ 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	23404124		★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down Syndrome	BEFREE	22751441		★☆☆☆☆ Found in Text Mining only
Drusen	Drusen	BEFREE	11264131		★☆☆☆☆ Found in Text Mining only
Ductal Breast Carcinoma	Breast Carcinoma	BEFREE	12185332, 20225093, 25810244		★☆☆☆☆ Found in Text Mining only
Ductal Carcinoma	Ductal Carcinoma	BEFREE	11474290, 12653579, 20225093, 25810244		★☆☆☆☆ Found in Text Mining only
Ectodermal Dysplasia	Ectodermal Dysplasia	BEFREE	11879774, 11903230, 12766194, 15550149, 15725251, 16187309, 16546853, 16679535, 16691622, 16724007, 17164413, 17224651, 18603493, 19676060, 21471985, 21906144, 22069181, 23407076, 23442358, 24569166		★☆☆☆☆ Found in Text Mining only
Ectrodactyly	Ectrodactyly	BEFREE	10769197, 11012604, 11462173, 11595015, 11929852, 12164578, 12766194, 14656652, 14699611, 17041931, 22069181, 22342398, 30566872		★☆☆☆☆ Found in Text Mining only
ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 1	Ectrodactyly	BEFREE	21652629, 23355676, 23355677, 24569166, 28513979, 30566872		★☆☆☆☆ Found in Text Mining only
Eczema	Eczema	BEFREE	26768665		★☆☆☆☆ Found in Text Mining only
Endometrial adenocarcinoma	Endometrial Adenocarcinoma	BEFREE	22441934		★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	22441934, 28511869		★☆☆☆☆ Found in Text Mining only
Enhanced S-Cone Syndrome	Enhanced S-Cone Syndrome	BEFREE	16020312		★☆☆☆☆ Found in Text Mining only
Epidermodysplasia Verruciformis	Epidermodysplasia Verruciformis	BEFREE	28595997		★☆☆☆☆ Found in Text Mining only
Epithelioma	Epithelioma	BEFREE	17264681		★☆☆☆☆ Found in Text Mining only
Esophageal carcinoma	Esophageal Carcinoma	BEFREE	12447998, 19725154, 24718831		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophagus Neoplasm	BEFREE	12447998, 24718831		★☆☆☆☆ Found in Text Mining only
Ewings sarcoma-primitive neuroectodermal tumor (PNET)	Ewing sarcoma	BEFREE	18769338		★☆☆☆☆ Found in Text Mining only
Exfoliative dermatitis	Exfoliative Dermatitis	BEFREE	19840326		★☆☆☆☆ Found in Text Mining only
Eye Diseases	Eye disease	Pubtator	36950921	Associate	★☆☆☆☆ Found in Text Mining only
Eye Diseases, Hereditary	Eye Diseases	CTD_human_DG	16968212		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Eye Diseases, Hereditary	Eye Diseases	GENOMICS_ENGLAND_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Eye poking	Motor Manifestations	HPO_DG			★☆☆☆☆ Found in Text Mining only
Familial benign pemphigus	Benign Pemphigus	BEFREE	25256005		★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty Liver	BEFREE	28480888		★☆☆☆☆ Found in Text Mining only
Fibroadenoma	Fibroadenoma	BEFREE	11474290		★☆☆☆☆ Found in Text Mining only
Fundus Albipunctatus	Fundus Albipunctatus	BEFREE	21211845, 31273949		★☆☆☆☆ Found in Text Mining only
Germ cell tumor	Tumor	BEFREE	16979518		★☆☆☆☆ Found in Text Mining only
Giant Cell Tumor of Bone	Giant cell tumor of bone	BEFREE	18192965		★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Global developmental delay	Developmental Delay	BEFREE	29396915		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Global developmental delay	Developmental Delay	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Graft-vs-Host Disease	Graft-Vs-Host Disease	BEFREE	16393253		★☆☆☆☆ Found in Text Mining only
Hay-Wells syndrome	Hay-Wells syndrome	BEFREE	11159940, 12692135, 12766194, 12932250, 16177572, 16190990, 16258268, 16365259, 16532463, 16679535, 18364388, 19676060, 20738799, 21615690, 21652629, 22247000, 22329826, 23108156, 23407076, 25645146, 28513979, 29339502		★☆☆☆☆ Found in Text Mining only
Head and Neck Carcinoma	Head And Neck Carcinoma	BEFREE	27034006		★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	29716728		★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic Neoplasms	BEFREE	22497596		★☆☆☆☆ Found in Text Mining only
Hemiplegia/hemiparesis	Hemiplegia/hemiparesis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hydatidiform Mole	Hydatidiform Mole	BEFREE	30558966		★☆☆☆☆ Found in Text Mining only
Hyperinsulinism	Hyperinsulinism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hyperkeratosis	Hyperkeratosis	BEFREE	28595997		★☆☆☆☆ Found in Text Mining only
Hyperopia	Hyperopia	Pubtator	31273949	Associate	★☆☆☆☆ Found in Text Mining only
Hypogonadism	Hypogonadism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypohidrosis	Hypohidrosis	BEFREE	30088137		★☆☆☆☆ Found in Text Mining only
Hypopigmentation disorder	Hypopigmentation Disorder	BEFREE	19840326		★☆☆☆☆ Found in Text Mining only
ICHTHYOSIS PREMATURITY SYNDROME	ICHTHYOSIS PREMATURITY SYNDROME	BEFREE	31595490		★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	17498688		★☆☆☆☆ Found in Text Mining only
Inflammatory Breast Carcinoma	Breast Cancer	BEFREE	20225093		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Invasive Ductal Breast Carcinoma	Invasive Duct and Lobular Carcinoma	BEFREE	12185332		★☆☆☆☆ Found in Text Mining only
Keratoconjunctivitis Sicca	Keratoconjunctivitis Sicca	BEFREE	23921950		★☆☆☆☆ Found in Text Mining only
Keratoconus	Keratoconus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Keratocystic Odontogenic Tumor	Keratocystic Odontogenic Tumor	BEFREE	31187467		★☆☆☆☆ Found in Text Mining only
Keratosis	Keratosis	BEFREE	28595997		★☆☆☆☆ Found in Text Mining only
Ki-1+ Anaplastic Large Cell Lymphoma	Anaplastic Lymphoma	BEFREE	28153507, 30719810, 31706671		★☆☆☆☆ Found in Text Mining only
Laryngeal Squamous Cell Carcinoma	Laryngeal Carcinoma	BEFREE	12379767		★☆☆☆☆ Found in Text Mining only
LATE-ONSET RETINAL DEGENERATION (disorder)	RETINAL DEGENERATION	BEFREE	16020312		★☆☆☆☆ Found in Text Mining only
LATERAL MENINGOCELE SYNDROME	Lateral Meningocele Syndrome	BEFREE	23407076		★☆☆☆☆ Found in Text Mining only
Leber Congenital Amaurosis	Leber congenital amaurosis	Pubtator	10615133, 11062306, 11264131, 14611946, 15024725, 16272259, 16828753, 18055820, 18539930, 18682808, 18809924, 18936139, 19117922, 19431183, 19583479, 19753312, 19840725, 19854499, 19959640, 20043869, 20103038, 20811156, 21602930, 21911650, 22323828, 23341016, 24066033, 25383945, 25537204, 25752820, 26147992, 26364624, 26626312, 29033008, 29133760, 29332120, 29414951, 30025081, 30711060, 30996589, 31273949, 31580392, 31878136, 32014860, 32714643, 32864823, 33838313, 34000280, 34158306, 35001204, 35121194, 35569774, 35748082, 36017377, 36123082, 36950921, 37240262, 38538211, 38627549, 39596324, 39728598, 39788486, 39828244, 40384766, 40725401, 9501220	Associate	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Leber Congenital Amaurosis	Leber Congenital Amaurosis	BEFREE	10766140, 10869443, 11062306, 11462243, 14962443, 15037595, 15106616, 15512997, 15557452, 15565294, 15765048, 15837919, 16020312, 16034607, 16096063, 16828753, 16942444, 17594175, 17848510, 17933883, 17960108, 18274907, 18484312, 18539930, 18774912, 18809924, 19117922, 19339306, 19373675, 19583479, 19805034, 19840725, 19854499, 20043869, 20103038, 20399883, 20484585, 20811047, 21299439, 21555576, 21654732, 21715356, 21911650, 22323828, 22509104, 23341016, 23341635, 24126856, 24664772, 24702842, 24702845, 24702846, 25030840, 25286304, 25383945, 25495949, 25537204, 25635059, 25752820, 25938638, 26626312, 27102010, 27653967, 28041994, 28754419, 28880021, 29033008, 29097191, 29133760, 29332120, 29874126, 30025081, 30046128, 30055151, 30170104, 30195768, 30870047, 30996589, 31273949, 31572124, 31580392, 31604676, 31671202, 9501220		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Leber Congenital Amaurosis	Leber Congenital Amaurosis	CLINGEN_DG	11264131, 11326284, 15557452, 15765048, 16096063, 17032058, 19339744, 22509104, 25752820, 26147992, 26626312, 27375040, 28712537, 9808841		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Leber Congenital Amaurosis	Leber Congenital Amaurosis	CTD_human_DG	19339306, 9326927, 9501220		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Leber Congenital Amaurosis	Leber congenital amaurosis	Pubtator	19953081	Inhibit	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Leber Congenital Amaurosis	Leber Congenital Amaurosis	ORPHANET_DG	25495949, 25685757		★★★★★ 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	GENOMICS_ENGLAND_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Leber Congenital Amaurosis	Leber Congenital Amaurosis	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
LEBER CONGENITAL AMAUROSIS 9 (disorder)	Leber Congenital Amaurosis	GENOMICS_ENGLAND_DG	9326927		★☆☆☆☆ Found in Text Mining only
LEBER CONGENITAL AMAUROSIS, TYPE II (disorder)	Leber Congenital Amaurosis	UNIPROT_DG	10090910, 10766140, 11462243, 14611946, 14962443, 15024725, 16205573, 17297704, 17724218, 18682808, 28418496, 9326927, 9326941, 9801879		★☆☆☆☆ Found in Text Mining only
LEBER CONGENITAL AMAUROSIS, TYPE II (disorder)	Leber Congenital Amaurosis	CLINVAR_DG	10766140, 11095629, 11462243, 15024725, 15557452, 16096063, 16150724, 16754667, 16828753, 17724218, 18539930, 18682808, 19117922, 19431183, 19854499, 19959640, 20079931, 20604683, 20683928, 21151602, 21153841, 21911650, 25495949, 25752820, 26024124, 26427455, 26626312, 26906952, 28181551, 29681726, 9501220		★☆☆☆☆ Found in Text Mining only
LEBER CONGENITAL AMAUROSIS, TYPE II (disorder)	Leber Congenital Amaurosis	BEFREE	12124981, 22171060, 26390089, 26684444, 28662231, 30335549		★☆☆☆☆ Found in Text Mining only
LEBER CONGENITAL AMAUROSIS, TYPE II (disorder)	Leber Congenital Amaurosis	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
LEBER CONGENITAL AMAUROSIS, TYPE II (disorder)	Leber Congenital Amaurosis	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Leukoplakia	Leukoplakia	BEFREE	28346726		★☆☆☆☆ Found in Text Mining only
Limb Deformities, Congenital	Congenital anomaly of limb	BEFREE	16691622, 16724007, 17041931, 17224651, 19676060		★☆☆☆☆ Found in Text Mining only
LIMB-MAMMARY SYNDROME	Limb-Mammary Syndrome	BEFREE	11462173, 17164413, 23407076		★☆☆☆☆ Found in Text Mining only
Limbal stem cell deficiency	Limbal stem cell deficiency	BEFREE	21959367, 28758321		★☆☆☆☆ Found in Text Mining only
Lip and Oral Cavity Carcinoma	Lip and Oral Cavity Carcinoma	BEFREE	23725313		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	20233581, 28350813		★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	BEFREE	31488173		★☆☆☆☆ Found in Text Mining only
Lung diseases	Lung Diseases	BEFREE	11354544		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	BEFREE	15551738		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	36224547	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	26332336		★☆☆☆☆ Found in Text Mining only
Lymphoma, Follicular	Lymphoma	BEFREE	15887287		★☆☆☆☆ Found in Text Mining only
Lymphoma, T-Cell, Cutaneous	Lymphoma	BEFREE	17107393		★☆☆☆☆ Found in Text Mining only
Macular Degeneration	Macular degeneration	Pubtator	11264131, 23404124	Associate	★☆☆☆☆ Found in Text Mining only
Malformations of Cortical Development, Group II	Malformation of cortical development	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malignant Cystosarcoma Phyllodes	Cystosarcoma Phyllodes	BEFREE	28968268		★☆☆☆☆ Found in Text Mining only
Malignant Head and Neck Neoplasm	Head and neck cancer	BEFREE	27034006		★☆☆☆☆ Found in Text Mining only
Malignant mesothelioma	Malignant Mesothelioma	BEFREE	17115439		★☆☆☆☆ Found in Text Mining only
Malignant Mesothelioma of Peritoneum	Peritoneal mesothelioma	BEFREE	29048219		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	12007564, 15849742, 17639392, 19173015, 21363924, 24316488, 24525232, 25893299, 26825981, 27555661, 28349272, 29484502, 31524947		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of endometrium	Endometrial Cancer	BEFREE	28511869		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of esophagus	Esophagus Neoplasm	BEFREE	12447998, 24718831		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	14612504, 15466179, 20332665, 22441934, 25982011		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of mouth	Malignant neoplasm of mouth	BEFREE	23725313		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	21917857, 23095717		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	29772221		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	11956072, 12553000, 14607218, 18781151, 19142959, 22949650, 26990571, 29241741, 29761525		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of skin	Skin cancer	BEFREE	22249251, 31744230		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	26406948		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of thyroid	Thyroid cancer	BEFREE	16322335, 17395974		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	12368193, 22253920, 22361733, 24213852, 28794159, 29956121, 30104251		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	10618710, 12750249, 14654529, 14689049, 15095006, 15248062, 15280445, 15564824, 15990899, 16084953, 16359856, 16445626, 16462763, 16861923, 16918993, 17264676, 17287142, 17395974, 17426453, 17992394, 18477895, 18801697, 19142959, 19754415, 20054805, 20298673, 21127042, 21289519, 21363924, 21436470, 21442444, 21515338, 21741828, 21760596, 21917857, 22441934, 23344544, 24658133, 24718831, 25409149, 25510918, 25726529, 26071105, 26374530, 26652033, 26784942, 28468801, 28714958, 28756980, 28915717, 29339502, 29441939, 29520104, 29588647, 29879069, 30104251, 31789342		★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	20442293, 30973901		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	22155142, 30700826		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	24316488, 25893299, 26840455		★☆☆☆☆ Found in Text Mining only
Mediastinal (Thymic) Large B-Cell Lymphoma	B-Cell Lymphoma	BEFREE	31831043		★☆☆☆☆ Found in Text Mining only
Medullary carcinoma	Megalencephaly, Polymicrogyria, Polydactyly, Hydrocephalus Syndrome	BEFREE	19536621		★☆☆☆☆ Found in Text Mining only
Medullary carcinoma of thyroid	Megalencephaly, Polymicrogyria, Polydactyly, Hydrocephalus Syndrome	BEFREE	19536621		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	12429996, 21951600		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Merkel cell carcinoma	Merkel cell carcinoma	BEFREE	19400830, 21765392, 31809560		★☆☆☆☆ Found in Text Mining only
Mesothelioma	Mesothelioma	BEFREE	29048219		★☆☆☆☆ Found in Text Mining only
Mitochondrial Encephalomyopathies	Mitochondrial encephalomyopathy	BEFREE	16020312		★☆☆☆☆ Found in Text Mining only
Mucoepidermoid Carcinoma	Mucoepidermoid Carcinoma	BEFREE	21777943, 24513264, 29975250		★☆☆☆☆ Found in Text Mining only
Multiple Acyl Coenzyme A Dehydrogenase Deficiency	Multiple Acyl-CoA Dehydrogenase Deficiency	BEFREE	31169683		★☆☆☆☆ Found in Text Mining only
Nasal Polyps	Nasal polyposis	BEFREE	21269671, 27807867		★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	BEFREE	18813784		★☆☆☆☆ Found in Text Mining only
Neck Neoplasms	Neck Neoplasms	BEFREE	15564824		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	10568821, 10769197, 10897041, 11136565, 11358835, 11381365, 11532371, 11592094, 11957139, 12234063, 12358808, 12368193, 12429996, 12434410, 12447998, 12838557, 14654529, 14659698, 15033906, 15095006, 15183414, 15201986, 15221786, 15254416, 15489655, 15551738, 15564824, 15781645, 16021638, 16359856, 16462763, 16512680, 16575619, 16618715, 16687923, 16885358, 17018588, 17224650, 17264676, 17297308, 17426453, 17639392, 17909026, 18192965, 18289041, 18348649, 18758480, 18832062, 19142959, 19173015, 19536621, 20054805, 20062014, 20074064, 20543567, 21289519, 21515338, 21527555, 21577326, 21761340, 21765392, 21906144, 21951666, 22253920, 22357254, 22623071, 22631682, 23319821, 23344544, 23548208, 23681076, 24350278, 24732135, 24901051, 25285922, 25510918, 25655427, 25710588, 25893299, 26032560, 26138851, 26406948, 26990571, 27091942, 27282352, 27359057, 27391460, 27555661, 27634385, 27760825, 28110711, 28129571, 28212728, 28236059, 28350813, 28417484, 28423575, 28645102, 28774266, 28794159, 28846747, 28942309, 28968268, 28975366, 29028127, 29307398, 29441939, 29475913, 29672360, 30104251, 31056618, 31417937, 31491579, 31789342		★☆☆☆☆ Found in Text Mining only
Nephroblastoma	Nephroblastoma	BEFREE	19173015, 31132652		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	10769197		★☆☆☆☆ Found in Text Mining only
Neuroendocrine Tumors	Neuroendocrine Tumors	BEFREE	11381365, 15551738, 28417484		★☆☆☆☆ Found in Text Mining only
Night blindness, congenital stationary	Night blindness	BEFREE	10937591		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	14612504, 21289519, 23064619, 23319821, 28730709, 30798982, 31206846, 31614634		★☆☆☆☆ Found in Text Mining only
Noninfiltrating Intraductal Carcinoma	Ductal carcinoma	BEFREE	12185332, 26330357, 26343330, 27060708, 28549030		★☆☆☆☆ Found in Text Mining only
Nyctalopia	Nyctalopia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	BEFREE	10615133		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nystagmus	Nystagmus	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nystagmus Pathologic	Nystagmus	Pubtator	11264131, 18599565, 36950921	Associate	★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	HPO_DG			★☆☆☆☆ Found in Text Mining only
obsolete Rod-cone dystrophy	Rod-cone dystrophy	CLINGEN_DG	11462243, 16205573, 21654732, 26626312, 28041994		★☆☆☆☆ Found in Text Mining only
Oculocerebrorenal Syndrome	Oculocerebrorenal syndrome	Pubtator	36950921	Associate	★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Optic Atrophy, Hereditary, Leber	Hereditary Leber Optic Atrophy	CTD_human_DG	16828753, 17011878		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Optic Atrophy, Hereditary, Leber	Hereditary Leber Optic Atrophy	BEFREE	24702846, 29856367		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Optic Atrophy, Hereditary, Leber	Hereditary Leber Optic Atrophy	GENOMICS_ENGLAND_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteosarcoma	Osteosarcoma	BEFREE	17568187, 22623071, 25085524		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	16445626, 17880529, 23095717		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	36224547	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	29772221		★☆☆☆☆ Found in Text Mining only
Pancreatic Ductal Adenocarcinoma	Pancreatic adenocarcinoma	BEFREE	22053213		★☆☆☆☆ Found in Text Mining only
Papillary craniopharyngioma	Papillary Craniopharyngioma	BEFREE	20128632		★☆☆☆☆ Found in Text Mining only
Papillary thyroid carcinoma	Papillary thyroid carcinoma	BEFREE	19493635, 25577570, 29201169		★☆☆☆☆ Found in Text Mining only
Patterned dystrophy of retinal pigment epithelium	Patterned macular dystrophy	Pubtator	32014860	Associate	★☆☆☆☆ Found in Text Mining only
Phyllodes Tumor	Phyllodes Tumor	BEFREE	15489655, 28968268		★☆☆☆☆ Found in Text Mining only
Poikiloderma of Kindler	Poikiloderma Of Kindler	BEFREE	23278235		★☆☆☆☆ Found in Text Mining only
Precursor B-cell lymphoblastic leukemia	Lymphoblastic Leukemia	BEFREE	27341130		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	11956072, 12553000, 14607218, 18781151, 19142959, 22949650, 26990571, 29241741		★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	BEFREE	16417229, 21373745		★☆☆☆☆ Found in Text Mining only
Pterygium	Pterygium	BEFREE	19288018		★☆☆☆☆ Found in Text Mining only
RAPP-HODGKIN SYNDROME	RAPP-HODGKIN SYNDROME	BEFREE	12766194, 15725251, 15807690, 16190990, 16532463, 18364388, 19676060, 22342398		★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	23158209		★☆☆☆☆ Found in Text Mining only
Retinal Degeneration	Retinal degeneration	Pubtator	11727200, 14611946, 26352687, 26427455, 28130426, 28945494, 29033008, 31273949, 32879773, 33684911, 35129589, 36878196, 36950921, 37660736, 37704110, 38002999, 39828244, 40384766	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinal Diseases	Retinal Diseases	BEFREE	18837956, 19373675, 20484585, 22080959, 27307694, 30711060, 31318398		★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal detachment	Pubtator	25752820, 27307694, 30658988, 30711060, 31877759, 32423767, 33798654, 33952291, 34088339, 35765055, 36352427, 36429068, 37547722, 40384766	Associate	★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal Diseases	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Retinal Dystrophies	Retinal Dystrophy	BEFREE	11062306, 11095629, 16754667, 16828753, 17933883, 18599565, 19373675, 20811160, 21268677, 21555576, 23878505, 24664772, 25972377, 27307694, 27375040, 28712537, 29659842, 29869534, 31443789, 31572124, 9326941, 9801879		★☆☆☆☆ Found in Text Mining only
Retinal Dystrophies	Retinal Dystrophy	CLINVAR_DG	18599565, 9326941		★☆☆☆☆ Found in Text Mining only
Retinal Dystrophies	Retinal Dystrophy	CTD_human_DG	9326941		★☆☆☆☆ Found in Text Mining only
Retinal Dystrophy, Early Onset Severe	Retinal Dystrophy	BEFREE	15288992, 15565294, 16034607, 18441371, 19151647, 25383945, 26605849, 28697496, 30025081		★☆☆☆☆ Found in Text Mining only
Retinal Dystrophy, Early Onset Severe	Retinal Dystrophy	ORPHANET_DG			★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis pigmentosa	Pubtator	11264131, 16272259, 26626312, 29947567, 32014860, 35569774, 35726567, 35748082, 36142423, 36950921, 37322672, 37578425, 38627549, 40384766, 9501220	Associate	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinitis Pigmentosa	Retinitis Pigmentosa	CLINGEN_DG	11462243, 16205573, 21654732, 26626312, 28041994		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinitis Pigmentosa	Retinitis Pigmentosa	LHGDN	12357075, 16272259, 16518657		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinitis Pigmentosa	Retinitis Pigmentosa	BEFREE	16020312, 21654732, 23341016, 26656277, 27503804, 28041994, 29097191, 29659842, 30195768, 30695025, 30975014		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinitis Pigmentosa	Retinitis Pigmentosa	CTD_human_DG	16272259, 16968212, 9501220		★★★★★ 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			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinitis Pigmentosa	Retinitis Pigmentosa	HPO_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinitis Pigmentosa 20	Retinitis Pigmentosa	CLINVAR_DG	10766140, 11095629, 11462243, 15024725, 15557452, 16096063, 16150724, 16754667, 16828753, 17724218, 18539930, 18682808, 19117922, 19431183, 19854499, 19959640, 20079931, 20604683, 20683928, 21151602, 21153841, 21911650, 25495949, 25752820, 26024124, 26427455, 26626312, 26906952, 28181551, 29681726, 9501220		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinitis Pigmentosa 20	Retinitis Pigmentosa	UNIPROT_DG	11095629, 12960219, 15557452, 22334370, 23878505, 9501220		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinitis Pigmentosa 20	Retinitis Pigmentosa	BEFREE	30335549		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinitis Pigmentosa 20	Retinitis Pigmentosa	GENOMICS_ENGLAND_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinitis Pigmentosa 20	Retinitis Pigmentosa	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Rhabdomyosarcoma	Rhabdomyosarcoma	BEFREE	11675006, 25209525, 28129571		★☆☆☆☆ Found in Text Mining only
Rod-Cone Dystrophy	Rod-cone dystrophy	BEFREE	10527670, 10937591, 15288992, 16518657		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Rod-Cone Dystrophy	Rod-cone dystrophy	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Rudiger syndrome 1	Rudiger syndrome	BEFREE	10535733, 10839977, 11012604, 11159940, 11462173, 11903230, 11929852, 12161593, 17041931, 18603493, 20180707, 21652629, 21959367, 22056627, 23407076, 24569166, 26891374, 30566872, 31413199		★☆☆☆☆ Found in Text Mining only
Salivary Gland Neoplasms	Salivary gland neoplasm	BEFREE	16084953		★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	BEFREE	15489655, 19898465, 29441939		★☆☆☆☆ Found in Text Mining only
Seminoma	Seminoma	BEFREE	16979518, 30359635		★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	BEFREE	23589895		★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Severe early-childhood-onset retinal dystrophy	Retinal Dystrophy	Orphanet			★☆☆☆☆ Found in Text Mining only
Skin Erosion	Skin Erosion	BEFREE	19681128		★☆☆☆☆ Found in Text Mining only
Skin Neoplasms	Skin Neoplasms	BEFREE	16181461		★☆☆☆☆ Found in Text Mining only
Small cell carcinoma of lung	Lung carcinoma	BEFREE	16512680, 20332665, 25906121, 31263838		★☆☆☆☆ Found in Text Mining only
Soft Tissue Neoplasms	Soft Tissue Neoplasms	BEFREE	18192965		★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxia Type 7	Spinocerebellar Ataxia	BEFREE	16020312		★☆☆☆☆ Found in Text Mining only
Split foot	Split Hand Foot Deformity	BEFREE	11787035		★☆☆☆☆ Found in Text Mining only
Split hand foot deformity 1	Split hand foot deformity	BEFREE	10769197, 11012604, 11462173, 11595015, 11929852, 12164578, 12766194, 14656652, 14699611, 17041931, 22069181, 22342398, 30566872		★☆☆☆☆ Found in Text Mining only
SPLIT-HAND/FOOT MALFORMATION 3	Split-Hand-Foot Malformation	BEFREE	14699611		★☆☆☆☆ Found in Text Mining only
SPLIT-HAND/FOOT MALFORMATION 4	Split-Hand-Foot Malformation	BEFREE	16258268, 16861923		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	11531258, 11727253, 11957139, 12086851, 12358808, 12447998, 12934112, 14562279, 14612504, 15183414, 15201986, 15551738, 16181461, 16687923, 17018588, 17637751, 17909026, 19267405, 19391123, 20332665, 20372069, 20442293, 20607803, 21170261, 21293058, 21527555, 21646640, 21741828, 22631682, 22690848, 24127607, 24166777, 24194854, 24590290, 24718831, 24732135, 25906121, 25982011, 26068789, 26251276, 26973202, 27499003, 27889037, 28041841, 28099906, 28645102, 28730709, 28756980, 29024544, 29187465, 29217659, 29781860, 30337687, 30798982, 31206846, 31263838		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	14562279, 19725154, 27029934		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of lung	Lung carcinoma	BEFREE	31206846, 31551362		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of mouth	Oral cavity carcinoma	BEFREE	14997391		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of skin	Skin carcinoma	BEFREE	24417641		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	12782800, 15201986, 15564824, 16273222, 16393253, 16885742, 17418619, 17935121, 18087216, 18418053, 19391123, 21088498, 21705376, 28041841, 29162693		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of tongue	Tongue carcinoma	BEFREE	21705376		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of vulva	Carcinoma Of Vulva	BEFREE	27223861		★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	BEFREE	28480888, 28621331		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	26406948		★☆☆☆☆ Found in Text Mining only
Sveinsson Chorioretinal Atrophy	Sveinsson chorioretinal atrophy	Pubtator	33838313	Associate	★☆☆☆☆ Found in Text Mining only
Syndactyly	Syndactyly	BEFREE	17915261		★☆☆☆☆ Found in Text Mining only
T-Cell Lymphoma	T-Cell Lymphoma	BEFREE	10769197		★☆☆☆☆ Found in Text Mining only
TARSAL-CARPAL COALITION SYNDROME	Tarsal-Carpal Coalition Syndrome	BEFREE	17880529		★☆☆☆☆ Found in Text Mining only
Teratoma	Teratoma	BEFREE	17880529, 30359635, 31572124		★☆☆☆☆ Found in Text Mining only
Testicular Germ Cell Tumor	Testicular Germ Cell Tumor	BEFREE	30359635		★☆☆☆☆ Found in Text Mining only
Thyroid carcinoma	Thyroid Carcinoma	BEFREE	16322335, 17395974		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	BEFREE	12234063, 16322335, 17395974		★☆☆☆☆ Found in Text Mining only
Transitional cell carcinoma of bladder	Bladder carcinoma	BEFREE	28488128		★☆☆☆☆ Found in Text Mining only
Trichohepatoenteric Syndrome	Trichohepatoenteric Syndrome	BEFREE	20180707		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	21252285, 22801492, 28349272, 29484502		★☆☆☆☆ Found in Text Mining only
Undifferentiated carcinoma	Carcinoma	BEFREE	11381365, 25902392		★☆☆☆☆ Found in Text Mining only
Uranostaphyloschisis	Uranostaphyloschisis	BEFREE	21965674, 28604778, 28803895		★☆☆☆☆ Found in Text Mining only
Urothelial Carcinoma	Urothelial Carcinoma	BEFREE	14654529, 28088268		★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasm	Uterine cervix neoplasm	BEFREE	11381365		★☆☆☆☆ Found in Text Mining only
Uveal melanoma	Uveal Melanoma	BEFREE	18477895, 27584665		★☆☆☆☆ Found in Text Mining only
Vision Disorders	Visual disorder	Pubtator	16828753, 18441371, 22171060, 27307694, 28237426, 29133760, 30025081, 30658988, 30711060, 32879773, 33952291, 36429068, 36950921, 40384766	Associate	★☆☆☆☆ Found in Text Mining only
Vitelliform Macular Dystrophy	Vitelliform macular dystrophy	Pubtator	27307694	Associate	★☆☆☆☆ Found in Text Mining only
Vulvar Lichen Sclerosus	Vulvar Lichen Sclerosus	BEFREE	27223861		★☆☆☆☆ Found in Text Mining only