TYR (tyrosinase)

Gene

• Entrez ID: 7299
• Gene name: Tyrosinase
• Gene symbol: TYR
• Synonyms (NCBI Gene): ATN, CMM8, OCA1, OCA1A, OCAIA, SHEP3
• Chromosome: 11
• Chromosome location: 11q14.3
• Summary: The enzyme encoded by this gene catalyzes the first 2 steps, and at least 1 subsequent step, in the conversion of tyrosine to melanin. The enzyme has both tyrosine hydroxylase and dopa oxidase catalytic activities, and requires copper for function. Mutati

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs61754399	->T	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant, downstream transcript variant
rs281865328	->C	Pathogenic, not-provided	Coding sequence variant, frameshift variant, genic downstream transcript variant, downstream transcript variant
rs1402167763	GGTCATGGCT>-	Likely-pathogenic	Coding sequence variant, frameshift variant, 3 prime UTR variant
rs1555100853	->T	Likely-pathogenic	Coding sequence variant, stop gained, 3 prime UTR variant
rs1590909462	G>-	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant, downstream transcript variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT733673	hsa-miR-1291	Luciferase reporter assay, qRT-PCR, Western blotting	33318297
MIRT733673	hsa-miR-1291	Luciferase reporter assay, qRT-PCR, Western blotting	33318297
MIRT1465650	hsa-miR-3154	CLIP-seq
MIRT1465651	hsa-miR-3179	CLIP-seq
MIRT2462696	hsa-miR-3120-3p	CLIP-seq
MIRT2462697	hsa-miR-3650	CLIP-seq
MIRT2462698	hsa-miR-3934	CLIP-seq
MIRT2462699	hsa-miR-451b	CLIP-seq
MIRT2462700	hsa-miR-4696	CLIP-seq
MIRT2462701	hsa-miR-552	CLIP-seq
MIRT2462702	hsa-miR-570	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
MITF	Activation	10080955;12034359;23872139
MITF	Unknown	10587587;12136092;18424413;21910056;22259223;9158138
OTX2	Activation	22259223
SOX9	Unknown	17702866
TFEB	Unknown	10707962

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004497	Function	Monooxygenase activity	IEA
GO:0004503	Function	Tyrosinase activity	IBA
GO:0004503	Function	Tyrosinase activity	IDA	11092760
GO:0004503	Function	Tyrosinase activity	IEA
GO:0005507	Function	Copper ion binding	IMP	11092760
GO:0005515	Function	Protein binding	IPI	16162817, 27720922, 28842328, 32814053
GO:0005737	Component	Cytoplasm	IDA	11092760
GO:0005764	Component	Lysosome	TAS	11092760
GO:0005798	Component	Golgi-associated vesicle	TAS	10823941
GO:0006583	Process	Melanin biosynthetic process from tyrosine	TAS	7704033
GO:0006726	Process	Eye pigment biosynthetic process	TAS	7704033
GO:0007601	Process	Visual perception	TAS	7704033
GO:0008283	Process	Cell population proliferation	IEA
GO:0009411	Process	Response to UV	IEA
GO:0009637	Process	Response to blue light	IDA	28842328
GO:0016020	Component	Membrane	IEA
GO:0016491	Function	Oxidoreductase activity	IEA
GO:0033162	Component	Melanosome membrane	IEA
GO:0033162	Component	Melanosome membrane	TAS
GO:0033280	Process	Response to vitamin D	IEA
GO:0042438	Process	Melanin biosynthetic process	IBA
GO:0042438	Process	Melanin biosynthetic process	IDA	8126111
GO:0042438	Process	Melanin biosynthetic process	IEA
GO:0042438	Process	Melanin biosynthetic process	IEA
GO:0042470	Component	Melanosome	IBA
GO:0042470	Component	Melanosome	IEA
GO:0042470	Component	Melanosome	ISS
GO:0042802	Function	Identical protein binding	IDA	28842328
GO:0042802	Function	Identical protein binding	IEA
GO:0042803	Function	Protein homodimerization activity	IEA
GO:0042803	Function	Protein homodimerization activity	ISS
GO:0043473	Process	Pigmentation	IBA
GO:0043473	Process	Pigmentation	IEA
GO:0043473	Process	Pigmentation	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0048471	Component	Perinuclear region of cytoplasm	IDA	11092760
GO:0048538	Process	Thymus development	IEA
GO:0051591	Process	Response to cAMP	IEA

Other IDs

• MIM: 606933
• HGNC: 12442
• e!Ensembl: ENSG00000077498

Protein

• UniProt ID: P14679
• Protein name: Tyrosinase (EC 1.14.18.1) (LB24-AB) (Monophenol monooxygenase) (SK29-AB) (Tumor rejection antigen AB)
• Protein function: This is a copper-containing oxidase that functions in the formation of pigments such as melanins and other polyphenolic compounds. Catalyzes the initial and rate limiting step in the cascade of reactions leading to melanin production from tyrosi
• PDB: 7RK7
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00264	Tyrosinase	170 → 403	Common central domain of tyrosinase	Domain

• Sequence:

  MLLAVLYCLLWSFQTSAGHFPRACVSSKNLMEKECCPPWSGDRSPCGQLSGRGSCQNILL
  SNAPLGPQFPFTGVDDRESWPSVFYNRTCQCSGNFMGFNCGNCKFGFWGPNCTERRLLVR
  RNIFDLSAPEKDKFFAYLTLAKHTISSDYVIPIGTYGQMKNGSTPMFNDINIYDLFVWMH
  YYVSMDALLGGSEIWRDIDFAHEAPAFLPWHRLFLLRWEQEIQKLTGDENFTIPYWDWRD
  AEKCDICTDEYMGGQHPTNPNLLSPASFFSSWQIVCSRLEEYNSHQSLCNGTPEGPLRRN
  PGNHDKSRTPRLPSSADVEFCLSLTQYESGSMDKAANFSFRNTLEGFASPLTGIADASQS
  SMHNALHIYMNGTMSQVQGSANDPIFLLHHAFVDSIFEQWLRRHRPLQEVYPEANAPIGH
  NRESYMVPFIPLYRNGDFFISSKDLGYDYSYLQDSDPDSFQDYIKSYLEQASRIWSWLLG
  AAMVGAVLTALLAGLVSLLCRHKRKQLPEEKQPLLMEKEDYHSLYQSHL

• Sequence length: 529

Pathways

KEGG:

Tyrosine metabolism
Metabolic pathways
Melanogenesis

Reactome:

Melanin biosynthesis

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	rs773970123	RCV000504775	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Abnormality of the skin	Likely pathogenic; Pathogenic	rs61754381, rs62645917, rs2135253415, rs61753190, rs28940881, rs773970123	RCV001814058 RCV001814059 RCV001814538 RCV001813947 RCV001836693 RCV001814229	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Albinism	Likely pathogenic; Pathogenic	rs61754381, rs28940876, rs28940881	RCV000626672 RCV000505170 RCV000626676	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Albinism or congenital nystagmus	Likely pathogenic; Pathogenic	rs61754381, rs62645917, rs61754362, rs104894314, rs61753185, rs61754392, rs28940881	RCV004782056 RCV004782234 RCV004782235 RCV005252663 RCV005252664 RCV005416024 RCV005646758	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Horizontal nystagmus	Likely pathogenic; Pathogenic	rs28940881	RCV000626675	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hypopigmentation of hair	Likely pathogenic; Pathogenic	rs28940881	RCV000626675	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hypopigmentation of the skin	Likely pathogenic; Pathogenic	rs28940881	RCV000626675	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Iris transillumination defect	Likely pathogenic; Pathogenic	rs28940881	RCV000626675	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Myopia	Likely pathogenic; Pathogenic	rs61754381, rs28940881	RCV000626672 RCV000626676	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nonsyndromic Oculocutaneous Albinism	Likely pathogenic; Pathogenic	rs61754381, rs62645917, rs62645904, rs121908011, rs61754392, rs61754375, rs1565386425, rs147574809, rs1565391977, rs781052288, rs773970123, rs758119014	RCV000755074 RCV000755079 RCV000755071 RCV000755077 RCV000755080 RCV000755072 RCV000755068 RCV000755069 RCV000755073 RCV000755075 RCV000755076 RCV000755078	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Nystagmus	Likely pathogenic; Pathogenic	rs61754381, rs28940881	RCV000626672 RCV000626676	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ocular albinism	Pathogenic	rs1057518763	RCV000414891	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ocular albinism with congenital sensorineural hearing loss	Likely pathogenic; Pathogenic	rs62645916, rs61753256, rs62645904, rs121908011, rs28940879, rs61753180, rs28940881	RCV000762871 RCV000763289 RCV000762869 RCV000762870 RCV000763288 RCV000763287 RCV000763286	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Oculocutaneous albinism	Likely pathogenic; Pathogenic	rs61754381, rs62645914, rs61753182, rs61753254, rs61753256, rs61754365, rs62645902, rs62645904, rs373333305, rs1013801316, rs746581409, rs749096874, rs200960909, rs61753184, rs750553908, rs28940876, rs104894314, rs61754388, rs121908011, rs61753185, rs28940879, rs61753180, rs61754375, rs61754387, rs104894316, rs104894317, rs61754399, rs28940881, rs2496552273, rs748669377, rs145610977, rs13312739, rs1482829698, rs1031268531, rs748901196, rs773970123	RCV000287375 RCV003230403 RCV005887723 RCV004800286 RCV006263662 RCV000778346 RCV004698823 RCV000778349 RCV004587236 RCV004785428 RCV004579584 RCV005925373 RCV005406567 RCV005406568 RCV004587414 RCV000599844 RCV000778348 RCV000335429 RCV003230346 RCV004782006 RCV000778345 RCV006263615 RCV003492282 RCV004526588 RCV003387715 RCV000602413 RCV004782008 RCV002466393 RCV003324356 RCV005407165 RCV004587532 RCV003994925 RCV003317249 RCV001109653 RCV005407929 RCV002272342	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Oculocutaneous albinism type 1	Likely pathogenic; Pathogenic	rs62645914, rs281865524, rs62645904, rs774670098, rs149912348, rs1565423615, rs779929859, rs796051880, rs28940876, rs28940877, rs28940880, rs61754392, rs61754375, rs104894316, rs770218017, rs1013801316, rs775683960, rs1555100853, rs1031268531, rs773970123	RCV005632240 RCV006257270 RCV005624323 RCV005624493 RCV005635381 RCV005635482 RCV005636690 RCV000186574 RCV003993735 RCV005632156 RCV005632157 RCV001554298 RCV005624280 RCV005632159 RCV005636941 RCV001730694 RCV005632449 RCV005357782 RCV005633656 RCV005624426	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Oculocutaneous albinism type 1A	Likely pathogenic; Pathogenic	rs61754382, rs61754381, rs61754386, rs62645916, rs62645917, rs61753181, rs61753184, rs61753187, rs61753253, rs61753254, rs61753256, rs61754361, rs61754362, rs61754364, rs61754365, rs61754369, rs61754370, rs61754371, rs62645904, rs61754374, rs755700581, rs763715899, rs2135253415, rs2135253148, rs2135281765, rs369610829, rs1374400414, rs373333305, rs763374476, rs776054795, rs1565386406, rs746581409, rs2135253151, rs750894109, rs149912348, rs1320376090, rs754661359, rs749096874, rs367543066, rs367543068, rs763648121, rs750553908, rs779929859, rs796051880, rs281865527, rs28940876, rs104894314, rs61754388, rs121908011, rs61753185, rs28940877, rs61754393, rs61754360, rs104894315, rs61754368, rs61753190, rs28940878, rs28940879, rs28940880, rs61754392, rs61753178, rs61753180, rs61754375, rs61754387, rs281865522, rs104894316, rs104894317, rs104894318, rs61754399, rs281865328, rs61754367, rs28940881, rs797046082, rs797046083, rs758115945, rs797046132, rs2496711997, rs61754385, rs2496528505, rs1943250802, rs2496726431, rs770218017, rs754654473, rs754250982, rs145610977, rs544365966, rs1321772595, rs1176150416, rs61753189, rs13312739, rs1304451467, rs1057518763, rs540911439, rs747095957, rs377209424, rs765329261, rs757754120, rs1013801316, rs773970123, rs775683960, rs747995722, rs137854890, rs1555100853, rs1565386582, rs1031268531, rs1565423674, rs748901196, rs1565386964, rs1207709557, rs1591133731, rs138487695, rs1590902150, rs1590902378, rs1590909462, rs1289685376, rs867751958, rs139091458	RCV000500289 RCV000177050 RCV001588916 RCV000503806 RCV000194121 RCV005008004 RCV000414815 RCV004796013 RCV005003462 RCV001588918 RCV000503968 RCV000003988 RCV000502990 RCV005008006 RCV000194283 RCV001588919 RCV006275860 RCV000194448 RCV000762869 RCV000503391 RCV001810042 RCV001587463 RCV002290718 RCV001730012 RCV001775444 RCV005005333 RCV005002696 RCV005006165 RCV005008393 RCV005008406 RCV004796690 RCV005002719 RCV005002723 RCV005253981 RCV005008306 RCV005006284 RCV005002726 RCV005002730 RCV000133602 RCV000133603 RCV002272787 RCV004796758 RCV005010892 RCV005010893 RCV005003521 RCV000003969 RCV000003970 RCV000192471 RCV000003973 RCV000003974 RCV000003975 RCV000003984 RCV004795371 RCV000003987 RCV000003989 RCV000003990 RCV000003991 RCV000003992 RCV000003993 RCV000003994 RCV000003995 RCV000003996 RCV000003997 RCV000004000 RCV000004002 RCV000004003 RCV000004004 RCV000004005 RCV000004006 RCV000004007 RCV000004008 RCV000004009 RCV000193173 RCV000195203 RCV000192311 RCV000193793 RCV000194340 RCV004820944 RCV003330206 RCV003443469 RCV003443470 RCV005003645 RCV003985899 RCV005003646 RCV004796827 RCV005013031 RCV005013147 RCV005013240 RCV005003740 RCV003890766 RCV005003749 RCV005006441 RCV001198201 RCV001591056 RCV000504265 RCV000501190 RCV000500843 RCV000501972 RCV000503855 RCV003325487 RCV001591179 RCV001591180 RCV000033111 RCV002497252 RCV000710040 RCV000710029 RCV000710031 RCV001592934 RCV000850232 RCV000760986 RCV000767859 RCV000851370 RCV000851371 RCV000851373 RCV000851372 RCV000991224 RCV001593159 RCV005012440 RCV001290267	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Oculocutaneous albinism type 1B	Pathogenic; Likely pathogenic	rs1943996205, rs61754382, rs61754381, rs61753179, rs61754386, rs62645916, rs62645917, rs61753181, rs61753184, rs61753187, rs61753253, rs61753254, rs61753256, rs61754361, rs61754362, rs61754364, rs61754365, rs61754370, rs61754371, rs62645904, rs763715899, rs2135253415, rs369610829, rs1374400414, rs373333305, rs763374476, rs776054795, rs1565386406, rs746581409, rs2135253151, rs149912348, rs1320376090, rs754661359, rs749096874, rs367543066, rs367543068, rs1565423615, rs750553908, rs779929859, rs796051880, rs281865527, rs28940876, rs104894314, rs61754388, rs121908011, rs61753185, rs61754393, rs104894315, rs61754368, rs28940879, rs61754392, rs61753178, rs61753180, rs61754375, rs61754387, rs281865522, rs104894316, rs104894317, rs104894318, rs61754399, rs28940881, rs797046082, rs758115945, rs1388451551, rs2496711997, rs61754385, rs2496726431, rs770218017, rs754654473, rs1288816930, rs754250982, rs145610977, rs544365966, rs1321772595, rs1176150416, rs13312739, rs1304451467, rs540911439, rs377209424, rs757754120, rs747995722, rs1555100853, rs1031268531, rs748901196, rs773970123, rs1207709557, rs1591133731, rs1590909462, rs1289685376, rs867751958	RCV001328471 RCV002505019 RCV000789026 RCV005867898 RCV005008001 RCV000762871 RCV005008003 RCV005008004 RCV005394361 RCV004796013 RCV005003462 RCV005008005 RCV000763289 RCV005003464 RCV005003465 RCV005008006 RCV005003466 RCV006275860 RCV005008007 RCV000762869 RCV005005950 RCV006249392 RCV005005333 RCV004785402 RCV005006165 RCV005008393 RCV005008406 RCV004796690 RCV005002719 RCV005002723 RCV005008306 RCV005006284 RCV005002726 RCV005002730 RCV000133602 RCV000133603 RCV002273320 RCV004796758 RCV005010892 RCV005010893 RCV005003521 RCV004795370 RCV001249700 RCV000003972 RCV002476920 RCV000680155 RCV000984954 RCV003238721 RCV005007816 RCV005007817 RCV000763288 RCV002490305 RCV004783717 RCV000003998 RCV003488321 RCV005007820 RCV005003330 RCV005007821 RCV002496250 RCV005003331 RCV002496251 RCV000004011 RCV005003553 RCV005863036 RCV003326034 RCV003228193 RCV003330206 RCV005003645 RCV003985899 RCV005003646 RCV004527458 RCV004796827 RCV005013031 RCV005013147 RCV005013240 RCV005003740 RCV005003749 RCV005006441 RCV003338585 RCV005010441 RCV005010440 RCV004819227 RCV002497252 RCV006275873 RCV005010741 RCV000850232 RCV005012292 RCV006275875 RCV005012316 RCV001174526 RCV005012440	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN	Likely pathogenic; Pathogenic	rs61754382, rs61754381, rs62645909, rs61754386, rs62645916, rs62645917, rs62645924, rs61753181, rs61753182, rs61753184, rs61753187, rs281865524, rs61753253, rs61753254, rs61753255, rs61753256, rs61754361, rs61754362, rs61754364, rs61754365, rs61754369, rs61754371, rs62645904, rs281865526, rs61754374, rs763715899, rs2135253415, rs774670098, rs571810545, rs767003400, rs369610829, rs1374400414, rs1944765423, rs373333305, rs763374476, rs1013801316, rs776054795, rs1565386406, rs886044493, rs746581409, rs2135253151, rs149912348, rs1320376090, rs754661359, rs749096874, rs367543066, rs750553908, rs1463109821, rs779929859, rs796051880, rs281865527, rs28940876, rs104894314, rs61754388, rs121908011, rs61753185, rs61754393, rs104894315, rs61754368, rs61753190, rs28940879, rs28940880, rs61754392, rs61753178, rs61753180, rs61754375, rs61754387, rs281865522, rs104894316, rs104894317, rs104894318, rs61754399, rs28940881, rs797046082, rs797046083, rs2496530929, rs1364823765, rs2496726431, rs770218017, rs2496528552, rs2496528211, rs754654473, rs778881311, rs748669377, rs752344007, rs2496527665, rs1288816930, rs2496618179, rs2496529208, rs754250982, rs1171626324, rs145610977, rs544365966, rs1321772595, rs1176150416, rs13312739, rs1304451467, rs2496529313, rs2496711543, rs2496528663, rs745847253, rs2496552504, rs1057518763, rs540911439, rs377209424, rs757754120, rs773970123, rs1482829698, rs775683960, rs747995722, rs137854890, rs1555100853, rs748901196, rs1207709557, rs1590909462, rs1289685376, rs867751958, rs139091458	RCV002505019 RCV002477252 RCV003460775 RCV005008001 RCV000762871 RCV003460777 RCV003467005 RCV005008004 RCV003460778 RCV003467006 RCV003460779 RCV004566983 RCV003460780 RCV005008005 RCV003460781 RCV000763289 RCV003460782 RCV003460783 RCV003460784 RCV003467008 RCV003467009 RCV003460785 RCV000762869 RCV004566984 RCV003467010 RCV003463045 RCV003470858 RCV003470908 RCV003470916 RCV003470930 RCV003464201 RCV005002696 RCV003464296 RCV004571547 RCV005008393 RCV004571879 RCV003471261 RCV003464292 RCV003471243 RCV005002719 RCV005002723 RCV003464319 RCV003464274 RCV005002726 RCV005002730 RCV004567159 RCV003459724 RCV003459725 RCV005010893 RCV005003521 RCV003460412 RCV002496249 RCV001542595 RCV001542596 RCV000762870 RCV002476921 RCV003460415 RCV003460416 RCV003460417 RCV003460418 RCV000763288 RCV003460419 RCV002490305 RCV004566679 RCV000763287 RCV003460423 RCV005007820 RCV005003330 RCV003466802 RCV002496250 RCV004566680 RCV002496251 RCV000763286 RCV003462303 RCV004567398 RCV003459703 RCV004572970 RCV003464761 RCV003464762 RCV003464763 RCV003464764 RCV003464765 RCV003466488 RCV003464766 RCV003464767 RCV003466489 RCV003466490 RCV003464768 RCV003464769 RCV004574106 RCV004574107 RCV004574108 RCV004574191 RCV005013147 RCV005013240 RCV005003740 RCV005003749 RCV004573806 RCV004573807 RCV004573808 RCV004573809 RCV004573810 RCV004573811 RCV004567901 RCV003470379 RCV003464077 RCV005010440 RCV004568641 RCV003464078 RCV004568657 RCV004568665 RCV003464111 RCV003466887 RCV002497252 RCV005010741 RCV003461012 RCV005012292 RCV005012316 RCV004569822 RCV005012440 RCV003446688	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Temperature-sensitive oculocutaneous albinism type 1	Pathogenic	rs61754393	RCV000003985	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
TYR-related disorder	Likely pathogenic; Pathogenic	rs61754382, rs61754381, rs62645916, rs62645917, rs61753184, rs61753256, rs61754361, rs61754362, rs62645904, rs61754374, rs774670098, rs767003400, rs373333305, rs779929859, rs281865527, rs28940876, rs104894314, rs61754388, rs121908011, rs61753185, rs61754393, rs61754368, rs61753180, rs61754387, rs104894317, rs61754399, rs28940881, rs758115945, rs1364823765, rs137854890, rs752344007, rs2496712146, rs2496529123, rs377209424, rs1402167763, rs1031268531	RCV004739346 RCV004529897 RCV004739347 RCV004739348 RCV004739349 RCV004739350 RCV004739351 RCV004739352 RCV004529900 RCV004529901 RCV004741076 RCV005868376 RCV004741128 RCV004536545 RCV004739286 RCV003387499 RCV004532280 RCV003387500 RCV004532281 RCV004532282 RCV004739287 RCV004739288 RCV004532284 RCV004739289 RCV004540988 RCV004739290 RCV004739291 RCV004739578 RCV004528594 RCV004529270 RCV004741502 RCV004540739 RCV004738829 RCV004740286 RCV004530706 RCV004740419	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autosomal recessive ocular albinism	Conflicting classifications of pathogenicity; other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BASAL CELL CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BENIGN NEOPLASM OF EYE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BENIGN NEOPLASM OF SKIN	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BILIARY TRACT CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, BASAL CELL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIAC EMBOLISM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOEMBOLIC STROKE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CATARACT	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CERVICAL CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CILIOPATHY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital nystagmus	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
CUTANEOUS MELANOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CUTANEOUS SQUAMOUS CELL CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ENDOMETRIAL CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ENDOMETRIOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ERYTHEMATOSQUAMOUS DERMATOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESOPHAGEAL CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESTROGEN-RECEPTOR NEGATIVE BREAST CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EYE DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GASTRIC CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLAUCOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hearing impairment	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
HEARING LOSS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEPATOCELLULAR CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IRIS DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KERATINOCYTE CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG ADENOCARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MACULAR DEGENERATION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of breast	Conflicting classifications of pathogenicity; other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MELANOCYTIC NEVUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Conflicting classifications of pathogenicity	ClinVar CTD, GWAS catalog CTD, GWAS catalog	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Melanoma, cutaneous malignant, susceptibility to, 8	Conflicting classifications of pathogenicity; other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUROTIC DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-HODGKINS LYMPHOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-MELANOMA SKIN CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-SMALL CELL LUNG CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NONORGANIC PSYCHOSIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OPEN-ANGLE GLAUCOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN ENDOMETRIOID CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN SEROUS CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PANCREATIC CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pigmentary skin disorders	Conflicting classifications of pathogenicity; other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSYCHIATRIC DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSYCHOTIC DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RETINOSCHISIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	Disgenet, GWAS catalog Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEBACEOUS GLAND DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEBORRHEIC DERMATITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEBORRHEIC KERATOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SKIN CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SKIN DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SKIN NEOPLASM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SKIN NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Skin/hair/eye pigmentation 3, blue/green eyes	Conflicting classifications of pathogenicity; other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SQUAMOUS CELL CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SQUAMOUS CELL LUNG CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STRABISMUS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TOOTH DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VITILIGO	—	Disgenet, GWAS catalog Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
WAARDENBURG SYNDROME TYPE 2	—	Disgenet, GWAS catalog, Orphanet Disgenet, GWAS catalog, Orphanet Disgenet, GWAS catalog, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Actinic keratosis	Actinic keratosis	BEFREE	25724930		★☆☆☆☆ Found in Text Mining only
Acute Coronary Syndrome	Coronary Syndrome	BEFREE	30776353		★☆☆☆☆ Found in Text Mining only
Acute Kidney Tubular Necrosis	Renal tubular necrosis	BEFREE	29303765		★☆☆☆☆ Found in Text Mining only
Acute leukemia	Leukemia	BEFREE	29283382		★☆☆☆☆ Found in Text Mining only
Acute monocytic leukemia	Monocytic Leukemia	BEFREE	11277411		★☆☆☆☆ Found in Text Mining only
Adult T-Cell Lymphoma/Leukemia	T-Cell Lymphoma/Leukemia	BEFREE	9475178		★☆☆☆☆ Found in Text Mining only
Albinism	Albinism	BEFREE	10987646, 15146472, 1693779, 18296661, 19208379, 20861488, 21906913, 22294196, 23504663, 24392141, 25703744, 26167114, 27450914, 27537549, 27640074, 27647118, 27775880, 2846281, 28476152, 28484254, 28640309, 28667292, 28982372, 29658579, 30274819, 30467562, 30801828, 3141148, 6770679, 7955413, 8026428, 8128955, 8433006, 8618053, 8747512		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Albinism	Albinism	CLINVAR_DG	13680365, 1970634		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Albinism	Albinism	Pubtator	14685142, 1910093, 21541274, 24392141, 27640074, 27775880, 35488210, 35803923, 35933957, 37460203, 38232104, 39349469, 6770679	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Albinism	Albinism	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Albinism Ocular	Ocular albinism	Pubtator	21541274, 26167114, 28667292	Associate	★☆☆☆☆ Found in Text Mining only
Albinism Oculocutaneous	Oculocutaneous albinism	Pubtator	10321549, 10766867, 11179026, 1429711, 14961451, 15451, 16056219, 16417222, 1676041, 1711223, 1832718, 1899321, 1900307, 1903591, 1905879, 1909058, 1910093, 1970634, 20806075, 2120217, 21541274, 22294196, 22734612, 23882993, 24392141, 2517365, 25216246, 25919014, 26167114, 27829221, 28296950, 28667292, 29941477, 3148727, 35488210, 37327787, 7887411, 7902671, 8027570, 8128955, 8198130, 8302318, 8430701, 8434585, 8592327, 9059668, 9163730, 9215770, 9321758, 9345097	Associate	★☆☆☆☆ Found in Text Mining only
Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells	Albinism With Hemorrhagic Diathesis And Pigmented Reticuloendothelial Cells	BEFREE	26165494		★☆☆☆☆ Found in Text Mining only
Albinism, Ocular	Ocular albinism	LHGDN	18326704		★☆☆☆☆ Found in Text Mining only
Albinism, Ocular	Ocular albinism	BEFREE	19938076, 21541274, 27734839		★☆☆☆☆ Found in Text Mining only
Albinism, Ocular	Ocular albinism	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Albinism, Ocular	Ocular albinism	HPO_DG			★☆☆☆☆ Found in Text Mining only
ALBINISM, OCULAR, WITH LATE-ONSET SENSORINEURAL DEAFNESS (disorder)	Ocular Albinism With Sensorineural Deafness	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
ALBINISM, OCULAR, WITH SENSORINEURAL DEAFNESS (disorder)	Ocular Albinism With Congenital Sensorineural Deafness	GENOMICS_ENGLAND_DG	28778995		★☆☆☆☆ Found in Text Mining only
ALBINISM, OCULAR, WITH SENSORINEURAL DEAFNESS (disorder)	Ocular Albinism With Congenital Sensorineural Deafness	ORPHANET_DG	9158138		★☆☆☆☆ Found in Text Mining only
ALBINISM, OCULAR, WITH SENSORINEURAL DEAFNESS (disorder)	Ocular Albinism With Congenital Sensorineural Deafness	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Albinism, Oculocutaneous	Oculocutaneous albinism	BEFREE	10751629, 10823941, 10929771, 10960773, 11295837, 11352574, 11574907, 11829136, 12190874, 12469324, 13680365, 14961451, 15146472, 15381243, 15452859, 16185271, 1642278, 16570240, 16907708, 18326704, 1832718, 18463683, 1899321, 1900307, 1905879, 19060277, 1951438, 1970634, 19865097, 20006830, 20426782, 20447099, 20601102, 20806075, 20861488, 21541274, 22734612, 23668539, 24392141, 24647637, 24721949, 24934919, 25060099, 2517365, 25216246, 25687215, 25703744, 25919014, 26165494, 26167114, 27734839, 27829221, 28112372, 28525403, 28629449, 28667292, 29050284, 29658579, 30274819, 30341532, 30347088, 30447237, 30558096, 30679655, 30791930, 30996339, 31196117, 3918447, 7298260, 7849740, 7902671, 7963676, 8027570, 8128955, 8129415, 8190479, 8644824, 8651291, 9163730, 9321758, 9345097, 9568405		★☆☆☆☆ Found in Text Mining only
Albinism, Oculocutaneous	Oculocutaneous albinism	CLINVAR_DG	11284711, 13680365, 1429711, 15146472, 15381243, 15635296, 16056219, 16170149, 1642278, 18326704, 18463683, 18821858, 1903591, 1905879, 19060277, 19320745, 1970634, 19865097, 20806075, 20861488, 21906913, 22042571, 22294196, 22734612, 23324268, 2342539, 24123366, 24721949, 25216246, 25919014, 26167114, 26818737, 27775880, 28266639, 28451379, 28629449, 7704033, 7902671, 8128955, 8430701, 8434585, 9163730, 9242509		★☆☆☆☆ Found in Text Mining only
Albinism, Oculocutaneous	Oculocutaneous albinism	LHGDN	12028586, 15146472, 15677452, 16517127, 16907708, 17516931, 18326704, 18701257, 18821858, 19060277		★☆☆☆☆ Found in Text Mining only
Albinism, Oculocutaneous	Oculocutaneous albinism	GENOMICS_ENGLAND_DG	18326704		★☆☆☆☆ Found in Text Mining only
Albinism, Oculocutaneous	Oculocutaneous albinism	CTD_human_DG	2511845, 9158138		★☆☆☆☆ Found in Text Mining only
ALBINISM, OCULOCUTANEOUS, TYPE I, TEMPERATURE-SENSITIVE	Oculocutaneous albinism	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
ALBINISM, OCULOCUTANEOUS, TYPE IB (disorder)	Oculocutaneous albinism	UNIPROT_DG	10987646, 1900309, 1903591, 8128955		★☆☆☆☆ Found in Text Mining only
ALBINISM, OCULOCUTANEOUS, TYPE IB (disorder)	Oculocutaneous albinism	CLINVAR_DG	1429711, 21985232, 2342539		★☆☆☆☆ Found in Text Mining only
ALBINISM, OCULOCUTANEOUS, TYPE IB (disorder)	Oculocutaneous albinism	GENOMICS_ENGLAND_DG	18326704, 28778995		★☆☆☆☆ Found in Text Mining only
ALBINISM, OCULOCUTANEOUS, TYPE IB (disorder)	Oculocutaneous albinism	BEFREE	28667292, 8618053		★☆☆☆☆ Found in Text Mining only
ALBINISM, OCULOCUTANEOUS, TYPE IB (disorder)	Oculocutaneous albinism	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Albinism, Tyrosinase-Negative	Tyrosinase-negative oculocutaneous albinism	CTD_human_DG	2511845, 9158138		★☆☆☆☆ Found in Text Mining only
Albinism, Tyrosinase-Negative	Tyrosinase-negative oculocutaneous albinism	BEFREE	8433006		★☆☆☆☆ Found in Text Mining only
Albinism, Tyrosinase-Positive	Tyrosinase-positive oculocutaneous albinism	CTD_human_DG	2511845, 9158138		★☆☆☆☆ Found in Text Mining only
Anaplasia	Anaplasia	BEFREE	9177196		★☆☆☆☆ Found in Text Mining only
Angina, Unstable	Intermediate coronary syndrome	BEFREE	30776353		★☆☆☆☆ Found in Text Mining only
Astigmatism	Astigmatism	BEFREE	30343058		★☆☆☆☆ Found in Text Mining only
Astigmatism	Astigmatism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ataxia Telangiectasia	Ataxia Telangiectasia	LHGDN	18791269		★☆☆☆☆ Found in Text Mining only
Atypical Teratoid Rhabdoid Tumor	Teratoid Rhabdoid Tumor	BEFREE	30010851		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	10587362, 15946243		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune disease	Pubtator	28630054	Stimulate	★☆☆☆☆ Found in Text Mining only
Basal Cell Cancer	Basal Cell Neoplasm	GWASCAT_DG	27539887, 31174203		★☆☆☆☆ Found in Text Mining only
Basal cell carcinoma	Carcinoma	LHGDN	18488027		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Basal cell carcinoma	Carcinoma	GWASCAT_DG	27539887, 31174203		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Basal Cell Neoplasm	Basal Cell Neoplasm	GWASCAT_DG	27539887, 31174203		★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar Disorder	BEFREE	1677600		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Brain Neoplasms	Brain Neoplasms	BEFREE	17912445		★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain neoplasms	Pubtator	35018490	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	31128918, 31370334, 31599026		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carcinoma, Basal Cell	Carcinoma	BEFREE	18488027, 21906913		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carcinoma, Basal Cell	Carcinoma	CTD_human_DG	18488027		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carcinoma, Basal Cell	Carcinoma	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cataract	Cataract	BEFREE	28712540		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Central Nervous System Neoplasms	Central Nervous System Neoplasms	BEFREE	29428974		★☆☆☆☆ Found in Text Mining only
Central Nervous System Neoplasms	Central nervous system neoplasm	Pubtator	29428974	Associate	★☆☆☆☆ Found in Text Mining only
Chediak-Higashi Syndrome	Chediak-Higashi Syndrome	BEFREE	10094567		★☆☆☆☆ Found in Text Mining only
Chloasma	Melasma	BEFREE	27378491, 30107341, 30825454, 31089372		★☆☆☆☆ Found in Text Mining only
Chronic progressive external ophthalmoplegia	Progressive External Ophthalmoplegia	BEFREE	11756614		★☆☆☆☆ Found in Text Mining only
Clear Cell Sarcoma of Soft Tissue	Sarcoma	BEFREE	10598869		★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	10223723		★☆☆☆☆ Found in Text Mining only
Congenital chromosomal disease	Congenital Chromosomal Disease	BEFREE	1677600		★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	27499381		★☆☆☆☆ Found in Text Mining only
Conjunctivitis	Conjunctivitis	BEFREE	17960121		★☆☆☆☆ Found in Text Mining only
Cryptophthalmos Unilateral or Bilateral Isolated	Cryptophthalmos syndrome	Pubtator	10321549	Associate	★☆☆☆☆ Found in Text Mining only
Cutaneous Melanoma	Melanoma	BEFREE	11255333, 11952287, 15457095, 16272362, 18488027, 19710684, 21906913, 24926819, 27363653, 29036293, 29696968, 30892163, 7599046		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cutaneous Melanoma	Melanoma	GWASCAT_DG	30429480		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cystathionine beta-Synthase Deficiency Disease	Cystathionine Beta-Synthase Deficiency Disease	BEFREE	7611281		★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic Fibrosis	BEFREE	8747512		★☆☆☆☆ Found in Text Mining only
Dentatorubral-Pallidoluysian Atrophy	Dentatorubral Pallidoluysian Atrophy	BEFREE	29023314		★☆☆☆☆ Found in Text Mining only
Dermatitis	Dermatitis	BEFREE	31437444		★☆☆☆☆ Found in Text Mining only
Dermatitis, Atopic	Dermatitis	BEFREE	31244373		★☆☆☆☆ Found in Text Mining only
Dermatologic disorders	Dermatologic Disorders	BEFREE	28026947, 28478573, 28872626, 28891289, 29067862, 29126486, 29404955, 29533643, 30149701, 30384179, 30410332, 31233796, 31334690, 31432056, 31614273		★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Development Disorder	BEFREE	17355913		★☆☆☆☆ Found in Text Mining only
Disorder of eye	Disorder Of Eye	GENOMICS_ENGLAND_DG	28778995		★☆☆☆☆ Found in Text Mining only
Eczema	Eczema	BEFREE	31244373		★☆☆☆☆ Found in Text Mining only
Exotropia	Exotropia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Familial Atypical Mole Melanoma Syndrome	Atypical Mole Melanoma Syndrome	BEFREE	15457095		★☆☆☆☆ Found in Text Mining only
Gilles de la Tourette syndrome	Tourette Syndrome	BEFREE	7619976		★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	BEFREE	28079657		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioblastoma	Glioblastoma	BEFREE	16447258, 30889203		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	30889203, 9176405	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	30889203		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	17255279, 31104065	Associate	★☆☆☆☆ Found in Text Mining only
Hemangiosarcoma	Hemangiosarcoma	BEFREE	28556023		★☆☆☆☆ Found in Text Mining only
Hepatolenticular Degeneration	Hepatolenticular Degeneration	BEFREE	30558096		★☆☆☆☆ Found in Text Mining only
Hepatorenal Syndrome	Hepatorenal Syndrome	BEFREE	29303765		★☆☆☆☆ Found in Text Mining only
Hermanski-Pudlak Syndrome	Hermansky-Pudlak Syndrome	BEFREE	10094567, 27647118, 30791930		★☆☆☆☆ Found in Text Mining only
Homocystinuria	Homocystinuria	BEFREE	7611281		★☆☆☆☆ Found in Text Mining only
Homocystinuria	Homocystinuria	Pubtator	7611281	Associate	★☆☆☆☆ Found in Text Mining only
Horizontal Nystagmus	Horizontal nystagmus	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hydrophthalmos	Glaucoma, congenital	BEFREE	16565383		★☆☆☆☆ Found in Text Mining only
Hyperkeratosis	Hyperkeratosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hyperopia	Hyperopia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypersensitivity Immediate	Hypersensitivity	Pubtator	8434585	Associate	★☆☆☆☆ Found in Text Mining only
Hypopigmentation disorder	Hypopigmentation Disorder	BEFREE	10559577, 10587362, 1900309, 21079976, 21410768, 21677667, 28019642, 28204812, 28478573, 29045474, 29271951, 29359158, 29439519, 29456788, 29990716, 30030001, 30445206, 30907884, 31437444, 3578281, 7611281, 8204666		★☆☆☆☆ Found in Text Mining only
Hypopigmentation disorder	Hypopigmentation Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypopigmentation disorder	Hypopigmentation Disorder	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	31597710		★☆☆☆☆ Found in Text Mining only
Inflammatory dermatosis	Dermatitis	BEFREE	31437444		★☆☆☆☆ Found in Text Mining only
Kidney Failure, Acute	Kidney Failure	BEFREE	28443283, 29197870, 29303765		★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	28183263, 31344629, 8535054, 9420288		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	11277411		★☆☆☆☆ Found in Text Mining only
Leukemia, T-Cell	T-cell leukemia	BEFREE	9475178		★☆☆☆☆ Found in Text Mining only
Leukodystrophy	Leukodystrophy	BEFREE	11134238		★☆☆☆☆ Found in Text Mining only
Linear atrophy	Atrophy	BEFREE	30401931		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	BEFREE	29303765		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	7934446		★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	8245518, 9506446	Associate	★☆☆☆☆ Found in Text Mining only
Macular Degeneration	Macular degeneration	Pubtator	21541274, 22259223	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Macular Edema, Cystoid	Cystoid macular edema	BEFREE	30006272		★☆☆☆☆ Found in Text Mining only
Macular retinal edema	Macular edema	BEFREE	30006272		★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	GWASCAT_DG	29662059, 29942085		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant Glioma	Glioma	BEFREE	12843792		★☆☆☆☆ Found in Text Mining only
Malignant melanoma of skin of lower limb	Malignant melanoma of skin	GWASCAT_DG	30429480		★☆☆☆☆ Found in Text Mining only
Malignant melanoma of skin of upper limb	Malignant melanoma of skin	GWASCAT_DG	30429480		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	31128918, 31599026		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	11720436, 15748648, 31599026		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of skin	Skin cancer	CTD_human_DG	18488027		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of skin	Skin cancer	BEFREE	19320745, 21906913		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of testis	Malignant Neoplasm Of Testis	BEFREE	9547346		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	28119155, 29943981, 29957472, 3112530, 31172223, 8245518, 8722221, 9443408		★☆☆☆☆ Found in Text Mining only
Melanocytic nevus	Melanocytic nevus	BEFREE	30232588		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanocytic nevus	Melanocytic nevus	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
melanoma	Melanoma	BEFREE	10080955, 10223723, 10340438, 10340881, 10354071, 10360670, 10403306, 10417512, 10417513, 10473072, 10504440, 10519409, 10576666, 10587362, 10597191, 10620110, 10746555, 10748239, 10803711, 10890385, 10901368, 10971051, 11051224, 11112213, 11115581, 11118049, 11131660, 11251559, 11255333, 11268478, 11282104, 11394498, 11397121, 11449181, 11536167, 11595894, 11844833, 11851885, 11876547, 11903234, 11952287, 12031085, 12133625, 12183423, 12201672, 12460203, 12543800, 12594285, 12684396, 12711281, 12843792, 12928225, 13679456, 1400379, 14597395, 14714561, 15053864, 15057052, 15242524, 15459222, 15525827, 15654977, 15746042, 15746944, 15832768, 15891771, 15946243, 16020961, 16054123, 16107497, 16247014, 16272362, 16410782, 16477373, 16788251, 16788751, 17163814, 1720016, 17204098, 17334354, 17726460, 18425346, 18488027, 18612636, 18791269, 18845991, 18927334, 18981467, 19074888, 19079609, 19320745, 19438551, 19578364, 19747905, 1977251, 20357686, 20357814, 20427771, 20442676, 20670430, 20844763, 20926276, 20939692, 21069321, 21196432, 21670269, 21906913, 22126691, 22128787, 22447455, 22464347, 22497519, 22555175, 22943168, 23537197, 23792190, 24709887, 2499655, 25837821, 26387540, 26685147, 27378491, 27450914, 27750220, 28017864, 2854305, 28556023, 28583798, 28602669, 28872626, 29126486, 29198104, 29383286, 29413752, 29900058, 29943981, 29975041, 30118988, 30458279, 30467562, 30476649, 30605301, 30639118, 30680790, 30916930, 31207106, 31336432, 31339696, 31384852, 31529964, 7479744, 7531726, 7599046, 7611281, 7636555, 7646526, 7667256, 8181865, 8289799, 8340755, 8566071, 8609659, 8617263, 8722221, 8740795, 8971169, 8983271, 9008229, 9028734, 9256124, 9256125, 9378549, 9443408, 9506446, 9609139, 9625038, 9692858, 9739060, 9801000, 9874512		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Melanoma	Melanoma	Pubtator	10360670, 10576666, 11033019, 11112213, 11459172, 12088451, 14562017, 15103749, 15654977, 15679052, 15921959, 16272362, 16638862, 18275944, 18317358, 18382126, 18791269, 19414786, 19578364, 19725869, 20939692, 21559390, 21670269, 22021080, 22654640, 22696054, 22895835, 22905195, 23884313, 24427375, 25077817, 25837821, 26179334, 26239596, 2854305, 28630054, 30042336, 31054264, 31941038, 32674468, 33167923, 34072104, 34199192, 35162988, 35357426, 35650266, 6770995, 7615964, 7986144, 8006593, 8245518, 8600463, 8618015, 8627164, 8740795, 8780380, 9176405, 9177196, 9740247, 9862344	Associate	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
melanoma	Melanoma	LHGDN	11812790, 12710945, 16272362, 17496782, 17496783, 18181974, 18425346, 18488027, 18791269, 18845991		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
melanoma	Melanoma	CTD_human_DG	18488027, 19578364, 21559390, 26640592		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
melanoma	Melanoma	GWASCAT_DG	19578364, 21983787, 24980573, 28212542		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
melanoma	Melanoma	GWASDB_DG	19578364, 21706340, 21983787, 24980573		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Melanoma	Melanoma	Pubtator	28811486	Stimulate	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
melanoma	Melanoma	HPO_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Melanoma Amelanotic	Melanoma	Pubtator	19133143, 22555175, 8245515, 8245518, 9177196	Associate	★☆☆☆☆ Found in Text Mining only
Melanoma Cutaneous Malignant	Melanoma	Pubtator	9820172	Associate	★☆☆☆☆ Found in Text Mining only
Melanoma, Amelanotic	Melanoma	BEFREE	10598869, 10620110, 10890385, 19133143, 22497519, 8245515		★☆☆☆☆ Found in Text Mining only
Melanoma, Amelanotic	Melanoma	LHGDN	14634018		★☆☆☆☆ Found in Text Mining only
Melanosis	Melanosis	GWASCAT_DG	17952075		★☆☆☆☆ Found in Text Mining only
Mental disorders	Mental Disorders	BEFREE	1677600		★☆☆☆☆ Found in Text Mining only
Merkel cell carcinoma	Merkel cell carcinoma	BEFREE	9252753		★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic Diseases	BEFREE	30587771		★☆☆☆☆ Found in Text Mining only
Metastatic melanoma	Metastatic Melanoma	BEFREE	10340438, 10371507, 10504440, 10971051, 11255333, 11511319, 11701975, 12133625, 14760074, 16179868, 16638862, 17675535, 20427771, 25586991, 29484133, 7986144, 9609139, 9683535, 9874512		★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	Pubtator	35577105	Associate	★☆☆☆☆ Found in Text Mining only
Microphthalmos	Microphthalmos	BEFREE	10707962, 11277411, 11886515, 16394501, 21745488, 28884442, 29621941, 30849679, 31322203, 31785464, 7478537, 9700169, 9830058		★☆☆☆☆ Found in Text Mining only
Microphthalmos	Microphthalmos	Pubtator	11886515	Associate	★☆☆☆☆ Found in Text Mining only
Minimal pigment oculocutaneous albinism type 1	Minimal Pigment Oculocutaneous Albinism	Orphanet			★☆☆☆☆ Found in Text Mining only
Mood Disorders	Mood Disorder	BEFREE	8383424		★☆☆☆☆ Found in Text Mining only
Multiple lentigines	Multiple lentigines	HPO_DG			★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	15210908		★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia	Myeloid Leukemia	BEFREE	26241492		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	30776353		★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	BEFREE	30372732		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Myopia	Myopia	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Myopia	Myopia	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	GWASDB_DG	20512145		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	10371507, 10598869, 10971051, 10985670, 11016721, 11178974, 11536167, 12031085, 12201672, 12900765, 14646622, 15242524, 16299244, 17163814, 17204098, 17912445, 17986862, 18020932, 18791269, 20427771, 20442676, 20607422, 20624956, 21196432, 22126691, 22753591, 22925930, 23211290, 24292713, 24709887, 24936769, 25394503, 26861670, 27283901, 27519597, 28097678, 28119155, 28605142, 30010851, 7599046, 7667256, 7777568, 8205528, 8722221, 8970601, 8983271, 9177196, 9252753, 9256124, 9256125, 9498746		★☆☆☆☆ Found in Text Mining only
Neoplasms, Intracranial	Intracranial Neoplasm	BEFREE	22753591		★☆☆☆☆ Found in Text Mining only
Neurilemmoma	Neurilemmoma	BEFREE	9252753		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	16447258		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	17234188, 27640074	Associate	★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	29383286, 29430350, 31744100		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	24292713		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonorganic psychosis	Nonorganic Psychosis	BEFREE	11352574		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonorganic psychosis	Nonorganic Psychosis	PSYGENET_DG	11352574		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nystagmus	Nystagmus	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nystagmus	Nystagmus	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nystagmus Congenital	Nystagmus	Pubtator	21541274	Associate	★☆☆☆☆ Found in Text Mining only
Nystagmus Pathologic	Nystagmus	Pubtator	23882993	Associate	★☆☆☆☆ Found in Text Mining only
Ocular albinism with congenital sensorineural deafness	Ocular Albinism With Congenital Sensorineural Deafness	Orphanet			★☆☆☆☆ Found in Text Mining only
Ocular albinism, type I	Ocular albinism	BEFREE	21541274, 27720922, 27734839		★☆☆☆☆ Found in Text Mining only
Oculocutaneous albinism type 1	Oculocutaneous albinism	BEFREE	10571953, 10671066, 10960773, 11284711, 11295837, 11858948, 12190874, 1487241, 15635296, 15677452, 15885985, 15895460, 15937636, 16907708, 17355913, 1900309, 19208379, 19865097, 20447099, 21968110, 22088535, 24392141, 24721949, 25216246, 27537549, 27775880, 28112372, 28858842, 29870551, 8026428, 8618053, 8644824		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Oculocutaneous albinism type 1	Oculocutaneous albinism	Pubtator	11134238, 1429711, 1899321, 1900309, 1905879, 21625599, 22294196, 23882993, 24392141, 25216246, 25577957, 27775880, 28858842, 29870551, 32019134, 34360537, 35413289, 35488210, 37685839, 9242509	Associate	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Oculocutaneous albinism type 1	Oculocutaneous albinism	CTD_human_DG	11781109		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Oculocutaneous albinism type 1	Oculocutaneous albinism	CLINVAR_DG	26167114		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Oculocutaneous albinism type 1	Oculocutaneous albinism	Pubtator	38287676	Stimulate	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Oculocutaneous albinism type 1	Oculocutaneous albinism	Pubtator	8618053	Inhibit	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Oculocutaneous albinism type 1	Oculocutaneous albinism	GENOMICS_ENGLAND_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Oculocutaneous albinism type 1A	Oculocutaneous albinism	UNIPROT_DG	10571953, 10671066, 10987646, 11295837, 11858948, 1487241, 15146472, 1642278, 1899321, 1943686, 1970634, 22981120, 2342539, 23504663, 24934919, 7902671, 7955413, 8128955, 8644824, 9259202		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Oculocutaneous albinism type 1A	Oculocutaneous albinism	BEFREE	10671066, 11858948, 1711223, 1905879, 2120217, 23085273, 2511845, 2517365, 7955413, 8430701, 8433007, 8434585, 8477259, 8608346, 8953413, 9059668, 9568405		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Oculocutaneous albinism type 1A	Oculocutaneous albinism	CTD_human_DG	11781109		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Oculocutaneous albinism type 1A	Oculocutaneous albinism	CLINVAR_DG	13680365, 1429711, 15146472, 16570240, 18326704, 18463683, 20861488, 2113511, 21458243, 21985232, 22042571, 22294196, 2342539, 23504663, 25703744, 8128955, 9259202		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Oculocutaneous albinism type 1A	Oculocutaneous albinism	GENOMICS_ENGLAND_DG	18326704, 28778995		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Oculocutaneous albinism type 1A	Oculocutaneous albinism	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Oculocutaneous albinism type 1B	Oculocutaneous albinism	Pubtator	1903591, 27775880	Associate	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Oculocutaneous albinism type 1B	Oculocutaneous albinism	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Oculocutaneous albinism type 2	Oculocutaneous albinism	BEFREE	1498098, 16199032, 20601102, 20806075, 23668539, 3109790, 7557977, 8302318, 8421497		★☆☆☆☆ Found in Text Mining only
Oculocutaneous albinism type 2	Oculocutaneous albinism	Pubtator	28667292, 35488210, 9163730, 9345097	Associate	★☆☆☆☆ Found in Text Mining only
Oculocutaneous albinism type 3	Oculocutaneous albinism	BEFREE	14634018		★☆☆☆☆ Found in Text Mining only
Papilloma	Papilloma	BEFREE	19133143		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	15773923, 18248610, 20480001, 29696968, 30846695, 31334690, 31365785		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	LHGDN	18390556		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	18390556, 27640074	Associate	★☆☆☆☆ Found in Text Mining only
Patent ductus arteriosus	Patent ductus arteriosus	BEFREE	30897181		★☆☆☆☆ Found in Text Mining only
Pericardial effusion	Pericardial effusion	BEFREE	15832768		★☆☆☆☆ Found in Text Mining only
Peripheral Arterial Disease	Peripheral arterial disease	Pubtator	19586928	Associate	★☆☆☆☆ Found in Text Mining only
Piebaldism	Piebaldism	BEFREE	19436266		★☆☆☆☆ Found in Text Mining only
Pigmentation Disorders	Pigmentation Disorders	BEFREE	28873682, 30366788, 30629444, 30856375, 31372740		★☆☆☆☆ Found in Text Mining only
Prader-Willi Syndrome	Prader-Willi Syndrome	BEFREE	3578281		★☆☆☆☆ Found in Text Mining only
Primary congenital glaucoma	Congenital glaucoma	BEFREE	16565383, 17355913		★☆☆☆☆ Found in Text Mining only
Proliferative vitreoretinopathy	Proliferative Vitreoretinopathy	BEFREE	9872531		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	11720436, 15748648, 31599026		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Psoriasis	Psoriasis	BEFREE	23303587		★☆☆☆☆ Found in Text Mining only
Psychotic Disorders	Psychosis	BEFREE	11352574		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Psychotic Disorders	Psychosis	PSYGENET_DG	11352574		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Retinal Detachment	Retinal Detachment	BEFREE	29502235		★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	BEFREE	11180971		★☆☆☆☆ Found in Text Mining only
Rufous oculocutaneous albinism	Rufous oculocutaneous albinism	Pubtator	15451, 1676041, 1903591, 36412553, 8198130	Associate	★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	Pubtator	22235783	Associate	★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	11352574, 1677600, 8383424, 8475213		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	PSYGENET_DG	11352574		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Seborrheic keratosis	Seborrheic keratosis	BEFREE	8977712		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Skin Diseases	Skin disease	Pubtator	27829221, 9475178	Associate	★☆☆☆☆ Found in Text Mining only
Skin lesion	Skin Lesion	BEFREE	27378491		★☆☆☆☆ Found in Text Mining only
Skin Neoplasms	Skin Neoplasms	CTD_human_DG	18488027		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Squamous cell carcinoma	Carcinoma	BEFREE	19384953		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Squamous cell carcinoma	Carcinoma	GWASCAT_DG	26829030, 31174203		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Squamous cell carcinoma of skin	Skin carcinoma	GWASCAT_DG	27424798		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of skin	Skin carcinoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Stage IV Skin Melanoma	Skin Melanoma	BEFREE	11511319, 22128787		★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	Pubtator	23882993	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Strabismus	Strabismus	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Strabismus	Strabismus	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Temperature-sensitive oculocutaneous albinism type 1	Temperature-Sensitive Oculocutaneous Albinism	Orphanet			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Trigeminal Neuralgia	Trigeminal neuralgia	BEFREE	19438551		★☆☆☆☆ Found in Text Mining only
Tuberous Sclerosis	Tuberous Sclerosis	BEFREE	1959929		★☆☆☆☆ Found in Text Mining only
Tyrosinemia, Type I	Tyrosinemia	BEFREE	27397503		★☆☆☆☆ Found in Text Mining only
Usher syndrome, type 1A	Usher Syndrome	BEFREE	8499899		★☆☆☆☆ Found in Text Mining only
Usher Syndrome, Type I	Usher Syndrome	BEFREE	8499899		★☆☆☆☆ Found in Text Mining only
Uveal melanoma	Uveal Melanoma	BEFREE	17317826, 20442676, 7599046, 8344785, 8970601		★☆☆☆☆ Found in Text Mining only
Uveal melanoma	Uveal melanoma	Pubtator	9820172	Associate	★☆☆☆☆ Found in Text Mining only
Uveomeningoencephalitic Syndrome	Uveomeningoencephalitic Syndrome	BEFREE	17200659, 17253112		★☆☆☆☆ Found in Text Mining only
Uveomeningoencephalitic Syndrome	Uveomeningoencephalitic syndrome	Pubtator	17200659	Associate	★☆☆☆☆ Found in Text Mining only
Vision Disorders	Visual disorder	Pubtator	27829221, 35803923	Associate	★☆☆☆☆ Found in Text Mining only
Vitamin A Deficiency	Vitamin A Deficiency	BEFREE	30401931		★☆☆☆☆ Found in Text Mining only
Vitiligo	Vitiligo	BEFREE	10469315, 10748239, 11167683, 15946243, 16272362, 16389417, 20083666, 20213835, 22943168, 25896941, 29126486, 29199612, 29696968, 29943981, 30400170, 30771911, 7934446, 8204666, 9328128		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Vitiligo	Vitiligo	Pubtator	10469315, 16272362, 20410501, 32838589	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Vitiligo	Vitiligo	LHGDN	16272362		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Vitiligo	Vitiligo	GWASDB_DG	20410501, 21326295, 22561518		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Vitiligo	Vitiligo	GWASCAT_DG	20410501, 27723757		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding)	Vitiligo-associated SYSTEMIC LUPUS ERYTHEMATOSUS	BEFREE	10469315, 10748239, 11167683, 15946243, 16272362, 16389417, 20083666, 20213835, 22943168, 25896941, 29126486, 29199612, 29696968, 29943981, 30400170, 30771911, 7934446, 8204666, 9328128		★☆☆☆☆ Found in Text Mining only
Waardenburg Syndrome	Waardenburg Syndrome	BEFREE	9830058		★☆☆☆☆ Found in Text Mining only