OCA2 (OCA2 melanosomal transmembrane protein)

Gene

• Entrez ID: 4948
• Gene name: OCA2 melanosomal transmembrane protein
• Gene symbol: OCA2
• Synonyms (NCBI Gene): BEY, BEY1, BEY2, BOCA, D15S12, EYCL, EYCL2, EYCL3, HCL3, P, PED, SHEP1, SLC13B1
• Chromosome: 15
• Chromosome location: 15q12-q13.1
• Summary: This gene encodes the human homolog of the mouse p (pink-eyed dilution) gene. The encoded protein is believed to be an integral membrane protein involved in small molecule transport, specifically tyrosine, which is a precursor to melanin synthesis. It is

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs1800401	G>A	Affects, likely-benign, benign	Missense variant, non coding transcript variant, coding sequence variant
rs1800407	C>T	Affects, likely-benign, benign	Missense variant, non coding transcript variant, coding sequence variant
rs1800408	C>G	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, non coding transcript variant, coding sequence variant
rs61738394	C>G,T	Likely-pathogenic, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, coding sequence variant, missense variant, genic upstream transcript variant, upstream transcript variant
rs74653330	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity, benign	Non coding transcript variant, missense variant, coding sequence variant
rs121918166	C>T	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs121918167	G>A	Pathogenic-likely-pathogenic, likely-pathogenic, pathogenic	Intron variant, coding sequence variant, missense variant, genic downstream transcript variant
rs121918168	G>A	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs121918169	C>G	Pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs121918170	T>A,C	Uncertain-significance, pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs121918171	C>T	Pathogenic	Intron variant, coding sequence variant, non coding transcript variant, missense variant
rs141949212	C>T	Likely-pathogenic	Intron variant, coding sequence variant, missense variant, genic downstream transcript variant
rs142931246	T>C,G	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs142988897	C>T	Pathogenic	Intron variant, coding sequence variant, missense variant, genic downstream transcript variant
rs144812594	G>A	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs145968118	C>T	Conflicting-interpretations-of-pathogenicity	Intron variant, coding sequence variant, missense variant, genic downstream transcript variant
rs147736385	G>A	Likely-pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant, intron variant
rs147816326	T>C	Likely-pathogenic, uncertain-significance	Missense variant, non coding transcript variant, coding sequence variant
rs183487020	G>A	Likely-pathogenic, conflicting-interpretations-of-pathogenicity	Missense variant, non coding transcript variant, coding sequence variant
rs185504549	C>A	Pathogenic	Splice donor variant
rs200457227	G>A,T	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, intron variant, missense variant
rs202091837	C>T	Conflicting-interpretations-of-pathogenicity	Upstream transcript variant, genic upstream transcript variant, synonymous variant, coding sequence variant, non coding transcript variant
rs368124046	C>T	Likely-pathogenic, pathogenic-likely-pathogenic, pathogenic	Intron variant
rs371412500	G>C,T	Likely-pathogenic, uncertain-significance	Coding sequence variant, genic downstream transcript variant, missense variant
rs371963034	C>T	Pathogenic	Intron variant, splice donor variant
rs387906240	C>A,T	Pathogenic	Genic downstream transcript variant, splice donor variant
rs387906241	C>-	Pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs570914443	G>A	Likely-pathogenic	Intron variant, coding sequence variant, non coding transcript variant, missense variant
rs749249918	G>A,C	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs757286784	T>G	Likely-pathogenic, uncertain-significance	Missense variant, non coding transcript variant, coding sequence variant
rs759740402	T>C	Likely-pathogenic	Intron variant, genic downstream transcript variant
rs763219039	C>A	Pathogenic	Splice donor variant
rs763819379	T>C	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs765779905	A>G,T	Likely-pathogenic, uncertain-significance	Intron variant, genic downstream transcript variant, missense variant, coding sequence variant
rs767092342	T>C	Likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs767489236	GGTGATAAGGCCAACAGC>-	Pathogenic-likely-pathogenic	Non coding transcript variant, inframe deletion, coding sequence variant
rs771620099	GGACA>-	Pathogenic	Intron variant, genic downstream transcript variant, frameshift variant, coding sequence variant
rs772324459	C>A,T	Likely-pathogenic, uncertain-significance	Missense variant, non coding transcript variant, coding sequence variant
rs772595552	A>-,AA	Pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs776814755	C>T	Likely-pathogenic	Intron variant, coding sequence variant, genic downstream transcript variant, missense variant
rs779461179	A>C	Likely-pathogenic	Intron variant
rs780296175	G>A	Uncertain-significance, likely-pathogenic	Intron variant, coding sequence variant, genic downstream transcript variant, missense variant
rs780625433	C>-	Pathogenic	Upstream transcript variant, coding sequence variant, non coding transcript variant, frameshift variant, genic upstream transcript variant
rs794727898	G>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs797044784	CCAG>GACC	Pathogenic-likely-pathogenic, likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs797045838	T>A,C	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs797045839	C>T	Likely-pathogenic	Intron variant, coding sequence variant, genic downstream transcript variant, missense variant
rs868238523	G>A	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs879253729	C>G	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs1057518192	->A	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1064796956	A>C	Pathogenic	Splice donor variant, intron variant, genic downstream transcript variant
rs1312967591	AG>-	Likely-pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1374558186	C>T	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, synonymous variant
rs1384042381	A>G	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs1555368749	C>G	Likely-pathogenic	Intron variant, missense variant, coding sequence variant, non coding transcript variant
rs1555375711	GCTGTGGCCGCCGCCACCTGGAGCCCAAAGCGTCAGCCTGGGTCAGCTCCACCACGATGTGCTCTTCCCTCCCAGGACGACTCGGCCCACTGGCCACTAGGGCCCCTGCCAGGTCCACCTGCAGCAGCGTGGAGTCCACGTGGCTGCTAAGGTTCACGGCT>-	Pathogenic	Splice acceptor variant, coding sequence variant, non coding transcript variant
rs1555391997	C>-	Pathogenic	Upstream transcript variant, coding sequence variant, frameshift variant, non coding transcript variant, genic upstream transcript variant
rs1555392037	GCTCCCCG>-	Pathogenic	Upstream transcript variant, coding sequence variant, frameshift variant, non coding transcript variant, genic upstream transcript variant
rs1555422232	C>T	Pathogenic	Splice acceptor variant, intron variant, genic downstream transcript variant
rs1566767423	T>G	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant, intron variant
rs1566797858	G>TCT	Likely-pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1567200202	->A	Likely-pathogenic	Splice donor variant, intron variant
rs1595660890	AA>C	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs1595717218	T>C	Likely-pathogenic	Splice acceptor variant
rs1595760903	G>T	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1595764680	A>G	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1595774445	GGGT>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant, intron variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT022272	hsa-miR-124-3p	Microarray	18668037
MIRT047322	hsa-miR-181a-5p	CLASH	23622248
MIRT446417	hsa-miR-6783-5p	PAR-CLIP	22100165
MIRT446416	hsa-miR-1249-5p	PAR-CLIP	22100165
MIRT446415	hsa-miR-6797-5p	PAR-CLIP	22100165
MIRT446414	hsa-miR-1299	PAR-CLIP	22100165
MIRT446413	hsa-miR-516b-5p	PAR-CLIP	22100165
MIRT446412	hsa-miR-4782-5p	PAR-CLIP	22100165
MIRT446410	hsa-miR-5706	PAR-CLIP	22100165
MIRT446411	hsa-miR-526b-5p	PAR-CLIP	22100165
MIRT446409	hsa-miR-6869-5p	PAR-CLIP	22100165
MIRT446408	hsa-miR-6515-5p	PAR-CLIP	22100165
MIRT446417	hsa-miR-6783-5p	PAR-CLIP	22100165
MIRT446416	hsa-miR-1249-5p	PAR-CLIP	22100165
MIRT446415	hsa-miR-6797-5p	PAR-CLIP	22100165
MIRT446414	hsa-miR-1299	PAR-CLIP	22100165
MIRT446413	hsa-miR-516b-5p	PAR-CLIP	22100165
MIRT446412	hsa-miR-4782-5p	PAR-CLIP	22100165
MIRT446410	hsa-miR-5706	PAR-CLIP	22100165
MIRT446411	hsa-miR-526b-5p	PAR-CLIP	22100165
MIRT446409	hsa-miR-6869-5p	PAR-CLIP	22100165
MIRT446408	hsa-miR-6515-5p	PAR-CLIP	22100165
MIRT446417	hsa-miR-6783-5p	PAR-CLIP	22100165
MIRT446416	hsa-miR-1249-5p	PAR-CLIP	22100165
MIRT446415	hsa-miR-6797-5p	PAR-CLIP	22100165
MIRT446414	hsa-miR-1299	PAR-CLIP	22100165
MIRT446413	hsa-miR-516b-5p	PAR-CLIP	22100165
MIRT446412	hsa-miR-4782-5p	PAR-CLIP	22100165
MIRT446410	hsa-miR-5706	PAR-CLIP	22100165
MIRT446411	hsa-miR-526b-5p	PAR-CLIP	22100165
MIRT446409	hsa-miR-6869-5p	PAR-CLIP	22100165
MIRT446408	hsa-miR-6515-5p	PAR-CLIP	22100165
MIRT446417	hsa-miR-6783-5p	PAR-CLIP	22100165
MIRT446416	hsa-miR-1249-5p	PAR-CLIP	22100165
MIRT446415	hsa-miR-6797-5p	PAR-CLIP	22100165
MIRT446414	hsa-miR-1299	PAR-CLIP	22100165
MIRT446413	hsa-miR-516b-5p	PAR-CLIP	22100165
MIRT446412	hsa-miR-4782-5p	PAR-CLIP	22100165
MIRT446410	hsa-miR-5706	PAR-CLIP	22100165
MIRT446411	hsa-miR-526b-5p	PAR-CLIP	22100165
MIRT446409	hsa-miR-6869-5p	PAR-CLIP	22100165
MIRT446408	hsa-miR-6515-5p	PAR-CLIP	22100165
MIRT1201759	hsa-miR-337-3p	CLIP-seq
MIRT1201760	hsa-miR-3685	CLIP-seq
MIRT1201761	hsa-miR-384	CLIP-seq
MIRT1201762	hsa-miR-3924	CLIP-seq
MIRT1201763	hsa-miR-4694-5p	CLIP-seq
MIRT1201764	hsa-miR-4711-3p	CLIP-seq
MIRT1201765	hsa-miR-4764-5p	CLIP-seq
MIRT1201766	hsa-miR-511	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
HLTF	Activation	22234890
LEF1	Activation	22234890
MITF	Activation	22234890

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005254	Function	Chloride channel activity	IDA	25513726
GO:0005515	Function	Protein binding	IPI	19116314
GO:0005765	Component	Lysosomal membrane	IDA	19116314
GO:0005789	Component	Endoplasmic reticulum membrane	IDA	19116314
GO:0006583	Process	Melanin biosynthetic process from tyrosine	IDA	25513726, 32966160
GO:0007286	Process	Spermatid development	IEA
GO:0008283	Process	Cell population proliferation	IEA
GO:0010008	Component	Endosome membrane	IDA	19116314
GO:0016020	Component	Membrane	IEA
GO:0030318	Process	Melanocyte differentiation	IBA
GO:0030318	Process	Melanocyte differentiation	IEA
GO:0033162	Component	Melanosome membrane	IBA
GO:0033162	Component	Melanosome membrane	IDA	19116314
GO:0033162	Component	Melanosome membrane	IEA
GO:0035752	Process	Lysosomal lumen pH elevation	IDA	25513726, 32966160
GO:0042438	Process	Melanin biosynthetic process	IBA
GO:0042438	Process	Melanin biosynthetic process	IEA
GO:0043473	Process	Pigmentation	IEA
GO:0048066	Process	Developmental pigmentation	IEA
GO:0055085	Process	Transmembrane transport	IEA
GO:1902476	Process	Chloride transmembrane transport	IEA

Other IDs

• MIM: 611409
• HGNC: 8101
• e!Ensembl: ENSG00000104044

Protein

• UniProt ID: Q04671
• Protein name: P protein (Melanocyte-specific transporter protein) (Pink-eyed dilution protein homolog)
• Protein function: Contributes to a melanosome-specific anion (chloride) current that modulates melanosomal pH for optimal tyrosinase activity required for melanogenesis and the melanosome maturation (PubMed:11310796, PubMed:15262401, PubMed:22234890, PubMed:25513
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF03600	CitMHS	342 → 775	Citrate transporter	Family

• Tissue specificity: TISSUE SPECIFICITY: Expressed in melanocytes and retinal pigment epithelium. {ECO:0000269|PubMed:25513726, ECO:0000269|PubMed:32966160}.
• Sequence:

  MHLEGRDGRRYPGAPAVELLQTSVPSGLAELVAGKRRLPRGAGGADPSHSCPRGAAGQSS
  WAPAGQEFASFLTKGRSHSSLPQMSSSRSKDSCFTENTPLLRNSLQEKGSRCIPVYHPEF
  ITAEESWEDSSADWERRYLLSREVSGLSASASSEKGDLLDSPHIRLRLSKLRRCVQWLKV
  MGLFAFVVLCSILFSLYPDQGKLWQLLALSPLENYSVNLSSHVDSTLLQVDLAGALVASG
  PSRPGREEHIVVELTQADALGSRWRRPQQVTHNWTVYLNPRRSEHSVMSRTFEVLTRETV
  SISIRASLQQTQAVPLLMAHQYLRGSVETQVTIATAILAGVYALIIFEIVHRTLAAMLGS
  LAALAALAVIGDRPSLTHVVEWIDFETLALLFGMMILVAIFSETGFFDYCAVKAYRLSRG
  RVWAMIIMLCLIAAVLSAFLDNVTTMLLFTPVTIRLCEVLNLDPRQVLIAEVIFTNIGGA
  ATAIGDPPNVIIVSNQELRKMGLDFAGFTAHMFIGICLVLLVCFPLLRLLYWNRKLYNKE
  PSEIVELKHEIHVWRLTAQRISPASREETAVRRLLLGKVLALEHLLARRLHTFHRQISQE
  DKNWETNIQELQKKHRISDGILLAKCLTVLGFVIFMFFLNSFVPGIHLDLGWIAILGAIW
  LLILADIHDFEIILHRVEWATLLFFAALFVLMEALAHLHLIEYVGEQTALLIKMVPEEQR
  LIAAIVLVVWVSALASSLIDNIPFTATMIPVLLNLSHDPEVGLPAPPLMYALAFGACLGG
  NGTLIGASANVVCAGIAEQHGYGFSFMEFFRLGFPMMVVSCTVGMCYLLVAHVVVGWN

• Sequence length: 838

Pathways

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
Albinism	Likely pathogenic; Pathogenic	rs141949212, rs1384042381	RCV000505060 RCV000504873	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Albinism or congenital nystagmus	Likely pathogenic; Pathogenic	rs121918166, rs142988897	RCV004584136 RCV006261989	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Brown oculocutaneous albinism	Pathogenic	rs1555375711	RCV000001003	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hypophosphatasia	Pathogenic	rs201791790	RCV004540683	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Melanoma	Likely pathogenic; Pathogenic	rs797045839	RCV005892342	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nonsyndromic Oculocutaneous Albinism	Likely pathogenic; Pathogenic	rs121918167, rs1555368749, rs200457227, rs1566767423, rs1566797858, rs759740402, rs779461179, rs1567200202	RCV000755092 RCV000755085 RCV000755093 RCV000755083 RCV000755081 RCV000755091 RCV000755082 RCV000755086	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
OCA2-related disorder	Likely pathogenic; Pathogenic	rs758894409, rs772019064, rs746307353, rs765235945, rs1368074390, rs121918166, rs121918170, rs2036555943, rs1169783208, rs774822330, rs141545475, rs748287294, rs781727577, rs797044784, rs368124046, rs780628028, rs2036554820, rs2506065436, rs2506064927, rs2506397508, rs767489236, rs776814755, rs772595552, rs141949212, rs371963034, rs771620099, rs1595660890	RCV004743448 RCV003910909 RCV004743555 RCV003395322 RCV004743670 RCV003415611 RCV003421891 RCV004744336 RCV003408208 RCV004744540 RCV004744541 RCV003418721 RCV003395573 RCV003398903 RCV004742323 RCV004741589 RCV003391402 RCV003416734 RCV003400331 RCV003420911 RCV003418094 RCV004742450 RCV003424048 RCV004742457 RCV003424061 RCV003424163 RCV003396593	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Oculocutaneous albinism	Pathogenic; Likely pathogenic	rs774822330, rs387906240, rs121918167, rs121918169, rs121918170, rs748287294, rs763819379, rs1297737900, rs373775562, rs780628028, rs201791790, rs2548339234, rs766188851, rs1389984924, rs183101063, rs2041233118, rs2548363498, rs1057518192, rs772595552, rs141949212, rs147736385, rs1595660890, rs1312967591	RCV005406236 RCV003323345 RCV005406715 RCV003317027 RCV003492280 RCV003331419 RCV004689667 RCV003155832 RCV004701347 RCV003317723 RCV004526261 RCV005240776 RCV004765847 RCV003493355 RCV004690434 RCV005433413 RCV005407240 RCV004767248 RCV003492077 RCV003330734 RCV004702403 RCV003492198 RCV003331021	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES	Likely pathogenic; Pathogenic	rs758894409, rs762262964, rs772019064, rs769408559, rs746307353, rs1476192724, rs759876062, rs1344047706, rs747408689, rs770635415, rs749661379, rs747395624, rs2041525028, rs752460023, rs777893926, rs959570803, rs2141347507, rs200398581, rs775008954, rs1226502822, rs748537823, rs387906240, rs121918166, rs121918167, rs121918168, rs121918169, rs121918170, rs1254334474, rs1169783208, rs2548345817, rs774822330, rs141545475, rs752727398, rs1322260893, rs748287294, rs776631782, rs1263195991, rs374415755, rs797044784, rs185504549, rs781118824, rs797045839, rs368124046, rs763819379, rs1297737900, rs373775562, rs780628028, rs781471173, rs201791790, rs769370108, rs2548453322, rs2548671431, rs2548339234, rs766188851, rs2548350288, rs2548473575, rs2548671260, rs1338085924, rs2548338916, rs772595552, rs2548495546, rs2548359835, rs2548435893, rs2505569617, rs2548495706, rs183101063, rs2042809582, rs2548495233, rs2548339012, rs2548495539, rs2548494983, rs2505282185, rs2042921188, rs767489236, rs1057518192, rs1064796956, rs776814755, rs141949212, rs371963034, rs763219039, rs1384042381, rs771620099, rs780625433, rs147736385, rs749249918, rs767092342, rs1595717218, rs768934658, rs142988897, rs1595660890, rs987780496	RCV002499794 RCV005005257 RCV003470868 RCV002477856 RCV005005979 RCV005006050 RCV003470914 RCV004572005 RCV003464297 RCV003464272 RCV005006159 RCV005006229 RCV004571729 RCV003471002 RCV003464210 RCV005002672 RCV003471112 RCV003471115 RCV003471139 RCV005008307 RCV004571770 RCV004566666 RCV000477815 RCV000762938 RCV003466773 RCV001262139 RCV000762940 RCV003471310 RCV003471311 RCV004571173 RCV003459728 RCV004572732 RCV003459729 RCV003459730 RCV003465926 RCV005010961 RCV005010962 RCV005011020 RCV003468873 RCV006275861 RCV005002891 RCV003468885 RCV000762939 RCV005008126 RCV003466027 RCV005008218 RCV004572919 RCV003463219 RCV003463220 RCV003463221 RCV003463222 RCV003463223 RCV003463224 RCV003463225 RCV003471626 RCV003463226 RCV003471627 RCV003471628 RCV003471629 RCV003471631 RCV003471632 RCV003471633 RCV003471634 RCV003471636 RCV003471637 RCV003471638 RCV003471639 RCV005003669 RCV005003670 RCV004574216 RCV004573146 RCV004574410 RCV004574411 RCV004574412 RCV004574413 RCV004574414 RCV004574415 RCV002480264 RCV004567899 RCV003470590 RCV000762937 RCV000762936 RCV003464075 RCV002490839 RCV005010444 RCV004568314 RCV005004272 RCV003465688 RCV006275876 RCV003465687 RCV004796302 RCV005004413 RCV002497282 RCV003467584 RCV003467756	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Tyrosinase-positive oculocutaneous albinism	Likely pathogenic; Pathogenic	rs758894409, rs762262964, rs772019064, rs769408559, rs746307353, rs1476192724, rs2140619474, rs752727398, rs2140706418, rs747408689, rs770635415, rs749661379, rs747395624, rs2041525028, rs752460023, rs959570803, rs2141347507, rs200398581, rs868098120, rs1226502822, rs2140704811, rs1555375711, rs387906240, rs121918166, rs121918167, rs387906241, rs121918168, rs121918169, rs121918170, rs1046172334, rs2140965742, rs2036555943, rs756918960, rs774784508, rs1254334474, rs1169783208, rs2548345817, rs779382711, rs141545475, rs776631782, rs1263195991, rs374415755, rs794727898, rs797044784, rs879253729, rs185504549, rs781118824, rs797045839, rs797045838, rs368124046, rs763819379, rs2548363796, rs2506400245, rs2506575769, rs370239668, rs771063630, rs570914443, rs2548363238, rs373775562, rs780628028, rs2548441801, rs2548441808, rs2524458707, rs1004064327, rs201791790, rs2548339234, rs766188851, rs2548671260, rs1338085924, rs772595552, rs2548345877, rs183101063, rs1322260893, rs2036558249, rs957981838, rs2548495570, rs2042921188, rs767489236, rs776814755, rs141949212, rs1555422232, rs371963034, rs763219039, rs1555391997, rs1555392037, rs1384042381, rs771620099, rs780625433, rs779461179, rs147736385, rs749249918, rs1595760903, rs1595764680, rs1595774445, rs767092342, rs1595717218, rs768934658, rs142988897, rs1595660890, rs987780496, rs2042382744, rs2041306355, rs2040273876	RCV001797836 RCV005005257 RCV001810100 RCV002477856 RCV005005979 RCV005006050 RCV001797002 RCV001806445 RCV001808893 RCV005006316 RCV005006277 RCV004017879 RCV003452160 RCV005002720 RCV005002635 RCV005002672 RCV006275890 RCV003128278 RCV003232462 RCV002274238 RCV002052129 RCV000001002 RCV000001004 RCV000001006 RCV000001007 RCV000001008 RCV000001009 RCV000001011 RCV000001012 RCV002274285 RCV002274286 RCV002274287 RCV002282795 RCV002283622 RCV002283758 RCV002284014 RCV002470202 RCV003128321 RCV005002929 RCV004782995 RCV005010961 RCV003128325 RCV005011020 RCV005632284 RCV000180125 RCV000234793 RCV000234803 RCV005002891 RCV000193498 RCV000194788 RCV000193557 RCV000192364 RCV003128358 RCV003128359 RCV003128361 RCV003128362 RCV003128363 RCV003128364 RCV003128365 RCV003128241 RCV005003054 RCV003318427 RCV003319596 RCV003443471 RCV003443472 RCV005012963 RCV004796813 RCV005636940 RCV003484421 RCV005012964 RCV003883219 RCV003485992 RCV005003669 RCV005003670 RCV004796841 RCV006249901 RCV005624515 RCV005003768 RCV001797713 RCV000762937 RCV000496043 RCV000500809 RCV000504359 RCV000502094 RCV000501883 RCV000500321 RCV000500286 RCV005010444 RCV001797757 RCV002282270 RCV002250689 RCV000851380 RCV000851379 RCV000851378 RCV000851377 RCV000851376 RCV000851375 RCV000851381 RCV000779152 RCV000989277 RCV005012438 RCV003128258 RCV001269031 RCV001249766 RCV001263486	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
AMBLYOPIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANGELMAN SYNDROME DUE TO MATERNAL 15Q11Q13 DELETION	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANGELMAN SYNDROME DUE TO MATERNAL MONOSOMY 15Q11Q13	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ASTHMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	★★☆☆☆ 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
BILIARY TRACT CANCER	—	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
CATARACT	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CERVICAL CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Benign	ClinVar GWAS catalog	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Cone-rod dystrophy	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL NYSTAGMUS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
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
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
FEBRILE CONVULSIONS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar GWAS catalog	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
HEPATOCELLULAR CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG ADENOCARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar GWAS catalog	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
LUNG CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★☆☆☆ 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
OCULOCUTANEOUS ALBINISM TYPE 2	—	CTD, ClinGen, Disgenet, GenCC, Orphanet CTD, ClinGen, Disgenet, GenCC, Orphanet CTD, ClinGen, Disgenet, GenCC, Orphanet CTD, ClinGen, Disgenet, GenCC, Orphanet	★★☆☆☆ 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
Ovarian serous cystadenocarcinoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PANCREATIC CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARKINSON DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PRADER-WILLI SYNDROME DUE TO MATERNAL UNIPARENTAL DISOMY OF CHROMOSOME 15	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PRADER-WILLI SYNDROME DUE TO PATERNAL DELETION OF 15Q11Q13 TYPE 1	—	Disgenet, Orphanet Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PRADER-WILLI SYNDROME DUE TO PATERNAL DELETION OF 15Q11Q13 TYPE 2	—	Disgenet, Orphanet Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RESPIRATORY TRACT INFECTIONS	—	Disgenet	★★☆☆☆ 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 NEOPLASM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 1	—	HPO	★★☆☆☆ 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
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Benign; Conflicting classifications of pathogenicity	ClinVar GWAS catalog	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	24419753		★☆☆☆☆ Found in Text Mining only
Age related macular degeneration	Age-related macular degeneration	BEFREE	28153442, 29404860		★☆☆☆☆ Found in Text Mining only
Albinism	Albinism	BEFREE	12469324, 16369963, 24361966, 25060099, 27647118		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Albinism	Albinism	Pubtator	29036293, 30414346, 33808351, 35328057, 37431738, 38279271, 39349469, 7762554	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Albinism	Albinism	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Albinism	Albinism	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Albinism Ocular	Ocular albinism	Pubtator	20806075, 21541274	Associate	★☆☆☆☆ Found in Text Mining only
Albinism Oculocutaneous	Oculocutaneous albinism	Pubtator	20806075, 21541274, 22734612, 28266639, 31199599, 31345173, 33124154, 33800529, 34246199, 35328057, 35704304, 35870188, 36672876, 37431738, 37882226, 8651291, 9321758	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	21264491, 21541274, 25060099, 28667292		★☆☆☆☆ Found in Text Mining only
Albinism, Oculocutaneous	Oculocutaneous albinism	BEFREE	10649493, 11574907, 13680365, 14722913, 16916463, 17931990, 18326704, 18463683, 19060277, 20019752, 20426782, 20806075, 21541274, 22734612, 23124039, 24617981, 25736709, 25919014, 26165494, 28456133, 28667292, 28973042, 29437493, 31196117, 31199599, 31345173, 7963676, 8651291, 9321758, 9345097		★☆☆☆☆ Found in Text Mining only
Albinism, Oculocutaneous	Oculocutaneous albinism	LHGDN	12028586, 12469324, 12727022, 15712365, 16453125, 17960121, 18326704, 18680187, 19060277		★☆☆☆☆ Found in Text Mining only
Albinism, Oculocutaneous	Oculocutaneous albinism	GENOMICS_ENGLAND_DG	8302318		★☆☆☆☆ Found in Text Mining only
Amyloidosis	Amyloidosis	BEFREE	30817935		★☆☆☆☆ Found in Text Mining only
Aneurysm, Dissecting	Aortic Aneurysm	BEFREE	28962011		★☆☆☆☆ Found in Text Mining only
Angelman Syndrome	Angelman Syndrome	BEFREE	12749060, 21733131, 28009282, 7942854, 8421497, 8641697, 8929945		★☆☆☆☆ Found in Text Mining only
Angelman syndrome due to maternal 15q11q13 deletion	Angelman Syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Aniridia	Aniridia	BEFREE	21264491		★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	BEFREE	29378968		★☆☆☆☆ Found in Text Mining only
Anxiety Disorders	Anxiety Disorder	BEFREE	29378968		★☆☆☆☆ Found in Text Mining only
Astigmatism	Astigmatism	Pubtator	30306274, 30747064	Associate	★☆☆☆☆ Found in Text Mining only
Astigmatism	Astigmatism	BEFREE	30343058		★☆☆☆☆ Found in Text Mining only
Autoimmune Chronic Hepatitis	Autoimmune hepatitis	BEFREE	31422415		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	16696180		★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	29328385, 30651766		★☆☆☆☆ Found in Text Mining only
B-CELL MALIGNANCY, LOW-GRADE	Lymphocytic Leukemia	BEFREE	17192900		★☆☆☆☆ Found in Text Mining only
Borderline Personality Disorder	Borderline personality disorder	Pubtator	25612291	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	16061647, 17270363, 29409738		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Neoplasms	Breast neoplasm	Pubtator	18284607	Associate	★☆☆☆☆ Found in Text Mining only
Bronchiolitis	Bronchiolitis	BEFREE	29944781		★☆☆☆☆ Found in Text Mining only
Brown Oculocutaneous Albinism	Brown oculocutaneous albinism	Pubtator	11179026	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Brown oculocutaneous albinism	Brown Oculocutaneous Albinism	GENOMICS_ENGLAND_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Brown oculocutaneous albinism	Brown Oculocutaneous Albinism	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Bulimia	Bulimia	BEFREE	29330176, 31845390		★☆☆☆☆ Found in Text Mining only
Bulimia Nervosa	Bulimia	BEFREE	29330176		★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	33144545	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	27424798, 28456133	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Basal Cell	Carcinoma	BEFREE	19384953, 21270109		★☆☆☆☆ Found in Text Mining only
Carcinoma, Basal Cell	Carcinoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	30837361		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervix carcinoma	Cervix carcinoma	BEFREE	30837361		★☆☆☆☆ Found in Text Mining only
Chediak-Higashi Syndrome	Chediak-Higashi Syndrome	BEFREE	10094567		★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	17192900		★☆☆☆☆ Found in Text Mining only
Color Vision Defects	Color vision deficiency	Pubtator	17236130, 18252222, 18483556, 23548203, 23555287	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	23481023		★☆☆☆☆ Found in Text Mining only
Congenital chromosomal disease	Congenital Chromosomal Disease	BEFREE	26335514		★☆☆☆☆ Found in Text Mining only
Cutaneous Melanoma	Melanoma	BEFREE	19710684		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cutaneous Melanoma	Melanoma	GWASCAT_DG	26237428		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Depressive disorder	Mental Depression	BEFREE	31733642		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	20452983, 9670003	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	9670003	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	20648624, 30806316		★☆☆☆☆ Found in Text Mining only
Disorder of eye	Disorder Of Eye	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down Syndrome	BEFREE	15221505		★☆☆☆☆ Found in Text Mining only
Dysmorphic features	Dysmorphic Features	CLINVAR_DG	10094567, 11310796, 11464238, 12469324, 15712365, 15889046, 21085994, 21292473, 23504663, 25093188, 26818737, 8421497		★☆☆☆☆ Found in Text Mining only
Erectile dysfunction	Erectile Dysfunction	BEFREE	28374859		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophagus Neoplasm	GWASDB_DG	22960999		★☆☆☆☆ Found in Text Mining only
Exotropia	Exotropia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	17700518		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	19432816	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	17700518		★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart Diseases	BEFREE	1696282		★☆☆☆☆ Found in Text Mining only
Hereditary Melanoma	Hereditary cutaneous melanoma	BEFREE	23103111		★☆☆☆☆ Found in Text Mining only
Hermanski-Pudlak Syndrome	Hermansky-Pudlak Syndrome	BEFREE	10094567, 27647118		★☆☆☆☆ Found in Text Mining only
Hypercholesterolemia, Familial	Hypercholesterolemia	BEFREE	17347910, 8828968		★☆☆☆☆ Found in Text Mining only
Hyperlipoproteinemia Type IIa	Hyperlipoproteinemia	BEFREE	8828968		★☆☆☆☆ Found in Text Mining only
Hypopigmentation disorder	Hypopigmentation Disorder	BEFREE	20019752, 21565543, 21733131, 28009282		★☆☆☆☆ Found in Text Mining only
Insulin Resistance	Diabetes mellitus, type 2	Pubtator	9670003	Associate	★☆☆☆☆ Found in Text Mining only
Intracranial Aneurysm	Intracranial Aneurysm	BEFREE	30239959, 30240853		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	29072691		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	BEFREE	18284607		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	18284607	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus	Lupus Erythematosus	BEFREE	30075696		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Discoid	Lupus Erythematosus	BEFREE	30075696		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	1696282, 2479275, 29461425, 30075696, 8348266		★☆☆☆☆ Found in Text Mining only
Lupus Vulgaris	Lupus Vulgaris	BEFREE	30075696		★☆☆☆☆ Found in Text Mining only
Macular Degeneration	Macular degeneration	Pubtator	21541274, 30747064	Associate	★☆☆☆☆ Found in Text Mining only
Malignant melanoma of skin of lower limb	Malignant melanoma of skin	GWASCAT_DG	26237428		★☆☆☆☆ Found in Text Mining only
Malignant melanoma of skin of upper limb	Malignant melanoma of skin	GWASCAT_DG	26237428		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	16061647, 17270363, 29409738		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of skin	Skin cancer	BEFREE	15889046, 21270109, 28456133		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	20648624, 24477641, 24617981, 29072691, 30837361		★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	30837361		★☆☆☆☆ Found in Text Mining only
Melanocytic nevus	Melanocytic nevus	BEFREE	25410285		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	14709592, 15889046, 18683857, 19320733, 21270109, 21926416, 23103111, 23537197, 24617981, 30414346, 30977151, 31630191		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Melanoma	Melanoma	Pubtator	17611626, 18252222, 30414346, 31630191	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
melanoma	Melanoma	GWASCAT_DG	28212542		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
melanoma	Melanoma	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Melanoma Cutaneous Malignant	Melanoma	Pubtator	19710684, 29036293	Associate	★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	31733642		★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic Diseases	BEFREE	17347910		★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	Pubtator	29346494	Associate	★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Myopia Degenerative	Myopia	Pubtator	30747064	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	18284607, 20308648, 21040949, 24477641, 29901097		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	9787107		★☆☆☆☆ Found in Text Mining only
Nevus	Nevus	BEFREE	25410285		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	18284607, 20388802, 20648624		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonketotic Hyperglycinemia	Nonketotic Hyperglycinemia	BEFREE	10451514, 11286506, 12126939, 12948742, 1396281, 15791207, 1634607, 1996985, 8412015		★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nystagmus Congenital	Nystagmus	Pubtator	21541274	Associate	★☆☆☆☆ Found in Text Mining only
Nystagmus Pathologic	Nystagmus	Pubtator	22734612, 31345173	Associate	★☆☆☆☆ Found in Text Mining only
Ocular albinism, type I	Ocular albinism	BEFREE	21541274		★☆☆☆☆ Found in Text Mining only
Oculocutaneous albinism type 1	Oculocutaneous albinism	Pubtator	31199599	Associate	★☆☆☆☆ Found in Text Mining only
Oculocutaneous albinism type 2	Oculocutaneous albinism	UNIPROT_DG	10649493, 10671067, 10987646, 12713581, 12727022, 12876664, 17385796, 23504663, 7762554, 7874125, 9259203		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Oculocutaneous albinism type 2	Oculocutaneous albinism	CLINVAR_DG	10649493, 10905897, 10987646, 12713581, 12876664, 15712365, 17960121, 18326704, 18463683, 18821858, 19060277, 19865097, 20426782, 20861488, 22734612, 23744323, 24118800, 24361966, 24845642, 25513726, 25919014, 26165494, 26474496, 26818737, 27231233, 27468418, 28266639, 28451379, 8302318, 8980282, 9259203		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Oculocutaneous albinism type 2	Oculocutaneous albinism	BEFREE	10671067, 16369963, 17385796, 20019752, 20806075, 21392365, 23103111, 23124039, 23504663, 24361966, 25736709, 28973042, 7887411, 9215770		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Oculocutaneous albinism type 2	Oculocutaneous albinism	Pubtator	12713581, 18528436, 22065085, 31199599, 31345173, 36059514, 37882226, 7762554	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Oculocutaneous albinism type 2	Oculocutaneous albinism	GENOMICS_ENGLAND_DG	8302318		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Oculocutaneous albinism type 2	Oculocutaneous albinism	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Oculocutaneous albinism type 2	Oculocutaneous albinism	ORPHANET_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Oculocutaneous albinism type 2	Oculocutaneous albinism	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Oculocutaneous Albinism Type IV	Oculocutaneous albinism	Pubtator	31199599	Associate	★☆☆☆☆ Found in Text Mining only
Osteoglophonic dwarfism	Osteoglosphonic dysplasia	BEFREE	29115424		★☆☆☆☆ Found in Text Mining only
Periodontal Diseases	Periodontal Diseases	BEFREE	30729535		★☆☆☆☆ Found in Text Mining only
Piebaldism	Piebaldism	BEFREE	15889046		★☆☆☆☆ Found in Text Mining only
Prader-Willi Syndrome	Prader-Willi Syndrome	BEFREE	21735174, 28009282, 7942854, 8641697		★☆☆☆☆ Found in Text Mining only
Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15	Prader-Willi Syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	Prader-Willi Syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	Prader-Willi Syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	29518100	Associate	★☆☆☆☆ Found in Text Mining only
Regular astigmatism - corneal	Corneal astigmatism	BEFREE	30306274		★☆☆☆☆ Found in Text Mining only
Retinal Pigment Epithelial Detachment	Retinal Pigment Epithelial Detachment	BEFREE	31012539		★☆☆☆☆ Found in Text Mining only
Skin Neoplasms	Skin neoplasm	Pubtator	17236130, 23548203, 28456133	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	21270109, 24617981		★★☆☆☆ 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	BEFREE	28456133		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of skin	Skin carcinoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Subarachnoid Hemorrhage	Subarachnoid hemorrhage	BEFREE	28962011		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasms	Thyroid cancer	Pubtator	16452205, 36059514	Associate	★☆☆☆☆ Found in Text Mining only
Usher syndrome type 1B	Usher syndrome	Pubtator	31345173	Associate	★☆☆☆☆ Found in Text Mining only
Uveal melanoma	Uveal melanoma	Pubtator	27499155	Associate	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Uveal melanoma	Uveal Melanoma	GWASCAT_DG	28781888		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Vesicular Stomatitis	Vesicular Stomatitis	BEFREE	24257610		★☆☆☆☆ Found in Text Mining only
Vitiligo	Vitiligo	Pubtator	40052928	Associate	★☆☆☆☆ Found in Text Mining only