SLC45A2 (solute carrier family 45 member 2)

Gene

• Entrez ID: 51151
• Gene name: Solute carrier family 45 member 2
• Gene symbol: SLC45A2
• Synonyms (NCBI Gene): 1A1, AIM1, MATP, OCA4, SHEP5
• Chromosome: 5
• Chromosome location: 5p13.2
• Summary: This gene encodes a transporter protein that mediates melanin synthesis. The protein is expressed in a high percentage of melanoma cell lines. Mutations in this gene are a cause of oculocutaneous albinism type 4, and polymorphisms in this gene are associa

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs116887602	G>A,C,T	Pathogenic-likely-pathogenic, benign	Intron variant, coding sequence variant, stop gained, synonymous variant
rs121912619	A>G	Pathogenic, uncertain-significance	Coding sequence variant, 3 prime UTR variant, missense variant
rs121912620	G>A	Pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs121912621	C>T	Pathogenic	Coding sequence variant, missense variant
rs146802593	C>G	Uncertain-significance, likely-pathogenic	Coding sequence variant, intron variant, missense variant
rs200122644	G>A,T	Pathogenic	Missense variant, coding sequence variant, synonymous variant, stop gained
rs387906317	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs387906318	GAA>-	Pathogenic	Intron variant, coding sequence variant, inframe deletion
rs562624441	G>A,T	Pathogenic	Synonymous variant, coding sequence variant, stop gained
rs730880270	C>T	Pathogenic	Splice acceptor variant, intron variant
rs730880271	A>-	Pathogenic	Coding sequence variant, 3 prime UTR variant, frameshift variant
rs748872789	G>A,T	Likely-pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs749544685	A>G	Likely-pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs753485165	CT>-	Uncertain-significance, pathogenic	Frameshift variant, coding sequence variant, 3 prime UTR variant
rs757331566	C>A,T	Likely-pathogenic	Missense variant, coding sequence variant
rs759411189	G>-	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs775387808	G>-	Pathogenic, likely-pathogenic	Coding sequence variant, frameshift variant
rs794727511	G>A	Pathogenic	Coding sequence variant, intron variant, stop gained
rs797045970	A>C	Likely-pathogenic	Coding sequence variant, intron variant, missense variant
rs886042344	A>C	Pathogenic	Coding sequence variant, 3 prime UTR variant, stop gained
rs1057518722	->A	Pathogenic	Coding sequence variant, frameshift variant
rs1294369944	C>A	Pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant, splice donor variant
rs1579547726	G>-	Likely-pathogenic	Intron variant, frameshift variant, coding sequence variant
rs1579564717	G>T	Likely-pathogenic	Missense variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT1364483	hsa-miR-1202	CLIP-seq
MIRT1364484	hsa-miR-1255a	CLIP-seq
MIRT1364485	hsa-miR-1255b	CLIP-seq
MIRT1364486	hsa-miR-1827	CLIP-seq
MIRT1364487	hsa-miR-3915	CLIP-seq
MIRT1364488	hsa-miR-3928	CLIP-seq
MIRT1364489	hsa-miR-3972	CLIP-seq
MIRT1364490	hsa-miR-4328	CLIP-seq
MIRT1364491	hsa-miR-4755-3p	CLIP-seq
MIRT1364492	hsa-miR-4776-3p	CLIP-seq
MIRT1364493	hsa-miR-940	CLIP-seq
MIRT2331972	hsa-miR-150	CLIP-seq
MIRT2331973	hsa-miR-15a	CLIP-seq
MIRT2331974	hsa-miR-15b	CLIP-seq
MIRT2331975	hsa-miR-16	CLIP-seq
MIRT2331976	hsa-miR-195	CLIP-seq
MIRT2331977	hsa-miR-424	CLIP-seq
MIRT2331978	hsa-miR-4317	CLIP-seq
MIRT2331979	hsa-miR-4522	CLIP-seq
MIRT2331980	hsa-miR-4524	CLIP-seq
MIRT2331981	hsa-miR-4713-5p	CLIP-seq
MIRT2331982	hsa-miR-497	CLIP-seq
MIRT2331983	hsa-miR-503	CLIP-seq
MIRT2331984	hsa-miR-532-3p	CLIP-seq
MIRT2331985	hsa-miR-646	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005356	Function	D-glucose:proton symporter activity	IEA
GO:0005356	Function	D-glucose:proton symporter activity	ISS
GO:0006583	Process	Melanin biosynthetic process from tyrosine	IDA	32966160
GO:0006583	Process	Melanin biosynthetic process from tyrosine	IEA
GO:0006583	Process	Melanin biosynthetic process from tyrosine	ISS
GO:0007601	Process	Visual perception	IEA
GO:0008506	Function	Sucrose:proton symporter activity	IBA
GO:0008506	Function	Sucrose:proton symporter activity	IEA
GO:0008506	Function	Sucrose:proton symporter activity	ISS
GO:0008645	Process	Hexose transmembrane transport	IEA
GO:0015293	Function	Symporter activity	IEA
GO:0015770	Process	Sucrose transport	IEA
GO:0015770	Process	Sucrose transport	ISS
GO:0016020	Component	Membrane	IBA
GO:0016020	Component	Membrane	IEA
GO:0022857	Function	Transmembrane transporter activity	IEA
GO:0033162	Component	Melanosome membrane	IDA	32966160
GO:0033162	Component	Melanosome membrane	IEA
GO:0035752	Process	Lysosomal lumen pH elevation	IDA	32966160
GO:0035752	Process	Lysosomal lumen pH elevation	IEA
GO:0035752	Process	Lysosomal lumen pH elevation	ISS
GO:0042438	Process	Melanin biosynthetic process	IEA
GO:0048066	Process	Developmental pigmentation	IEA
GO:0048066	Process	Developmental pigmentation	ISS
GO:0055085	Process	Transmembrane transport	IEA

Other IDs

• MIM: 606202
• HGNC: 16472
• e!Ensembl: ENSG00000164175

Protein

• UniProt ID: Q9UMX9
• Protein name: Membrane-associated transporter protein (Melanoma antigen AIM1) (Protein AIM-1) (Solute carrier family 45 member 2)
• Protein function: Proton-associated glucose and sucrose transporter (By similarity). May be able to transport also fructose (By similarity). Expressed at a late melanosome maturation stage where functions as proton/glucose exporter which increase lumenal pH by de
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF13347	MFS_2	37 → 261		Family

• Tissue specificity: TISSUE SPECIFICITY: Expressed in mature melanocytes. {ECO:0000269|PubMed:32966160}.
• Sequence:

  MGSNSGQAGRHIYKSLADDGPFDSVEPPKRPTSRLIMHSMAMFGREFCYAVEAAYVTPVL
  LSVGLPSSLYSIVWFLSPILGFLLQPVVGSASDHCRSRWGRRRPYILTLGVMMLVGMALY
  LNGATVVAALIANPRRKLVWAISVTMIGVVLFDFAADFIDGPIKAYLFDVCSHQDKEKGL
  HYHALFTGFGGALGYLLGAIDWAHLELGRLLGTEFQVMFFFSALVLTLCFTVHLCSISEA
  PLTEVAKGIPPQQTPQDPPLSSDGMYEYGSIEKVKNGYVNPELAMQGAKNKNHAEQTRRA
  MTLKSLLRALVNMPPHYRYLCISHLIGWTAFLSNMLFFTDFMGQIVYRGDPYSAHNSTEF
  LIYERGVEVGCWGLCINSVFSSLYSYFQKVLVSYIGLKGLYFTGYLLFGLGTGFIGLFPN
  VYSTLVLCSLFGVMSSTLYTVPFNLITEYHREEEKERQQAPGGDPDNSVRGKGMDCATLT
  CMVQLAQILVGGGLGFLVNTAGTVVVVVITASAVALIGCCFVALFVRYVD

• Sequence length: 530

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
Abnormal bleeding	Likely pathogenic; Pathogenic	rs779983065	RCV001270520	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Albinism or congenital nystagmus	Likely pathogenic; Pathogenic	rs146802593	RCV005253000	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Oculocutaneous albinism type 4	Pathogenic; Likely pathogenic	rs757344228, rs760780597, rs1177355814, rs896495198, rs1307137184, rs752370234, rs759043037, rs530738094, rs751978811, rs145379710, rs752501574, rs753041550, rs730880270, rs387906317, rs387906318, rs121912621, rs730880271, rs759411189, rs797045970, rs775387808, rs764544992, rs116887602, rs2478775996, rs944029472, rs1427916078, rs375077956, rs2478762696, rs750747932, rs2478921389, rs1057518722, rs1294369944, rs562624441, rs200122644, rs146802593, rs202120684, rs1579564717, rs1753106609, rs779983065	RCV001542578 RCV003323931 RCV001814625 RCV005416129 RCV004770365 RCV004785405 RCV003235634 RCV004587269 RCV004770313 RCV005042685 RCV005032017 RCV005032020 RCV000004756 RCV000004758 RCV000004759 RCV000004761 RCV000004764 RCV000234810 RCV000193320 RCV000779473 RCV005034541 RCV004786654 RCV003337797 RCV004701733 RCV006275900 RCV005356493 RCV004596604 RCV003985199 RCV004595247 RCV000415377 RCV000500008 RCV000503552 RCV002491149 RCV001093591 RCV005407815 RCV000851384 RCV003441148 RCV005408791	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
SKIN/HAIR/EYE PIGMENTATION 5, BLACK/NONBLACK HAIR	Likely pathogenic; Pathogenic	rs896495198, rs530738094, rs145379710, rs752501574, rs753041550, rs387906317, rs759411189, rs775387808, rs764544992, rs116887602, rs1427916078, rs2478762696, rs200122644, rs146802593, rs1579547726	RCV005040400 RCV005031988 RCV005042685 RCV005032017 RCV005032020 RCV004566683 RCV005031726 RCV004567769 RCV005034541 RCV005044540 RCV006275900 RCV006275902 RCV002491149 RCV006275870 RCV001028049	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
SLC45A2-related disorder	Pathogenic; Likely pathogenic	rs757344228, rs530738094, rs145379710, rs775387808, rs2478839974, rs146802593, rs202120684	RCV003394125 RCV004756328 RCV003948872 RCV004755829 RCV003400351 RCV004755990 RCV004755989	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Thrombocytopenia	Likely pathogenic; Pathogenic	rs779983065	RCV001270520	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Uveal melanoma	Likely pathogenic; Pathogenic	rs116887602	RCV005895747	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
BASAL CELL CARCINOMA	—	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
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
CARCINOMA, SQUAMOUS CELL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CERVICAL CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER	—	GWAS catalog	★★☆☆☆ 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
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
GASTRIC CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEPATOCELLULAR CARCINOMA	—	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
Malignant melanoma of skin	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MELANOCYTIC NEVUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MELANOMA	—	CTD, GWAS catalog CTD, 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
Nonsyndromic Oculocutaneous Albinism	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Oculocutaneous albinism	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OCULOCUTANEOUS ALBINISM, TYPE IV	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ 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
PROSTATE CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ROSACEA	—	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/HAIR/EYE PIGMENTATION, VARIATION IN, 5	—	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

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Albinism	Albinism	BEFREE	14722913, 22294196, 25060099, 26016411, 27706749, 28982372		★☆☆☆☆ Found in Text Mining only
Albinism	Albinism	Pubtator	20861488, 27706749, 32966289, 35488210	Associate	★☆☆☆☆ Found in Text Mining only
Albinism	Albinism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Albinism Oculocutaneous	Oculocutaneous albinism	Pubtator	14961451, 18463683, 20806075, 21677667, 22294196, 22734612, 28298193, 30679655, 31077556, 31199599, 37471664	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	25060099		★☆☆☆☆ Found in Text Mining only
Albinism, Oculocutaneous	Oculocutaneous albinism	BEFREE	11574907, 14722913, 14961451, 16185271, 17768386, 18463683, 19060277, 20426782, 20806075, 21677667, 22734612, 23668539, 24096233, 24647637, 25093188, 25760657, 26165494, 27829221, 28737247, 28982372, 29437493, 31199599, 31630438		★☆☆☆☆ Found in Text Mining only
Albinism, Oculocutaneous	Oculocutaneous albinism	LHGDN	11574907, 14722913, 17516931, 17768386, 18326704, 18986462, 19060277		★☆☆☆☆ Found in Text Mining only
Albinism, Oculocutaneous	Oculocutaneous albinism	GENOMICS_ENGLAND_DG	14722913		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	26057128		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune disease	Pubtator	28630054	Inhibit	★☆☆☆☆ Found in Text Mining only
Basal Cell Cancer	Basal Cell Neoplasm	GWASCAT_DG	27539887, 31174203		★☆☆☆☆ Found in Text Mining only
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
Breast Carcinoma	Breast Carcinoma	BEFREE	22292665		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carcinoma Basal Cell	Basal cell carcinoma	Pubtator	19578363	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	19384953, 19578363, 27424798	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Basal Cell	Carcinoma	BEFREE	19578363, 25227856		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carcinoma, Basal Cell	Carcinoma	CTD_human_DG	19578363		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carcinoma, Basal Cell	Carcinoma	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Color Vision Defects	Color vision deficiency	Pubtator	18483556, 23555287	Associate	★☆☆☆☆ Found in Text Mining only
Cutaneous Melanoma	Melanoma	BEFREE	19710684, 21693730, 24926819, 31233279		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Disorder of eye	Disorder Of Eye	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Hypopigmentation disorder	Hypopigmentation Disorder	BEFREE	21677667, 23171239		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	23171239	Associate	★☆☆☆☆ Found in Text Mining only
Leukopenia	Leukopenia	BEFREE	21677667		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	22292665		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	22127895, 24769028, 28747635, 30544954		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	28630054		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	11323215, 11700328, 18563784, 18683857, 19194464, 19578363, 21559390, 21693730, 22402438, 22464347, 23537197, 23786662, 25093503, 26057890, 28630054, 31233279, 8700511, 9096375		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Melanoma	Pubtator	16116595, 19384953, 19578363, 21559390, 23393597, 23786662, 25093503, 26057890, 28630054, 33167923, 34334114	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
melanoma	Melanoma	LHGDN	18563784, 18683857		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
melanoma	Melanoma	CTD_human_DG	18563784, 21559390		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
melanoma	Melanoma	GWASDB_DG	21983787		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
melanoma	Melanoma	GWASCAT_DG	21983787, 28212542		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
melanoma	Melanoma	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma Cutaneous Malignant	Melanoma	Pubtator	19710684	Associate	★☆☆☆☆ Found in Text Mining only
Melanosis	Melanosis	GWASCAT_DG	30166351		★☆☆☆☆ Found in Text Mining only
Metastatic melanoma	Metastatic Melanoma	BEFREE	22402438		★☆☆☆☆ Found in Text Mining only
Metastatic Prostate Carcinoma	Metastatic Prostate Carcinoma	BEFREE	28747635		★☆☆☆☆ Found in Text Mining only
Mixed anxiety and depressive disorder	Mixed Anxiety And Depressive Disorder	BEFREE	30183556		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	19548309		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	22402438, 22510872, 24647637		★☆☆☆☆ Found in Text Mining only
Neutropenia	Neutropenia	BEFREE	21677667		★☆☆☆☆ Found in Text Mining only
Neutropenia	Neutropenia	Pubtator	21677667	Associate	★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	BEFREE	24096233		★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nystagmus Pathologic	Nystagmus	Pubtator	34078970, 36553465	Associate	★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	30183556		★☆☆☆☆ Found in Text Mining only
Ocular albinism, type I	Ocular albinism	BEFREE	30679655		★☆☆☆☆ Found in Text Mining only
Oculocutaneous albinism type 1	Oculocutaneous albinism	Pubtator	31077556, 31199599	Associate	★☆☆☆☆ Found in Text Mining only
Oculocutaneous albinism type 2	Oculocutaneous albinism	BEFREE	20806075		★☆☆☆☆ Found in Text Mining only
Oculocutaneous albinism type 2	Oculocutaneous albinism	Pubtator	31199599	Associate	★☆☆☆☆ Found in Text Mining only
Oculocutaneous albinism type 4	Oculocutaneous albinism	BEFREE	12128226, 14722913, 17768386, 23171239, 28192564, 28737247, 28982372		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Oculocutaneous albinism type 4	Oculocutaneous albinism	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Oculocutaneous Albinism Type IV	Oculocutaneous albinism	Pubtator	21677667, 23171239, 26057890, 28298193, 31199599, 34078970, 35225164	Associate	★☆☆☆☆ Found in Text Mining only
Oculocutaneous Albinism, Type IV	Oculocutaneous albinism	UNIPROT_DG	11574907, 14722913, 14961451, 15656822, 17768386, 19865097, 23504663		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Oculocutaneous Albinism, Type IV	Oculocutaneous albinism	GENOMICS_ENGLAND_DG	14722913		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Oculocutaneous Albinism, Type IV	Oculocutaneous albinism	CLINVAR_DG	15565285, 24845642, 26818737		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Oculocutaneous Albinism, Type IV	Oculocutaneous albinism	BEFREE	17768386, 19610114, 19865097, 23171239, 26016411, 27019209, 28192564, 28737247		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Oculocutaneous Albinism, Type IV	Oculocutaneous albinism	ORPHANET_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Oculocutaneous Albinism, Type IV	Oculocutaneous albinism	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Patent ductus arteriosus	Patent ductus arteriosus	BEFREE	31519154		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	22127895, 24769028, 30544954		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	25238935, 29518100, 30307468, 34417538	Associate	★☆☆☆☆ Found in Text Mining only
Rufous oculocutaneous albinism	Rufous oculocutaneous albinism	Pubtator	20861488, 23171239, 31077556	Associate	★☆☆☆☆ Found in Text Mining only
Skin Diseases	Skin disease	Pubtator	21712187	Associate	★☆☆☆☆ Found in Text Mining only
Skin Neoplasms	Skin neoplasm	Pubtator	21712187	Associate	★☆☆☆☆ Found in Text Mining only
Sleep Apnea Syndromes	Sleep apnea	Pubtator	34446064	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	19578363		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Squamous cell carcinoma	Carcinoma	CTD_human_DG	19578363		★★☆☆☆ 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
Strabismus	Strabismus	HPO_DG			★☆☆☆☆ Found in Text Mining only