MC1R (melanocortin 1 receptor)

Gene

• Entrez ID: 4157
• Gene name: Melanocortin 1 receptor
• Gene symbol: MC1R
• Synonyms (NCBI Gene): CMM5, MSH-R, SHEP2
• Chromosome: 16
• Chromosome location: 16q24.3
• Summary: This intronless gene encodes the receptor protein for melanocyte-stimulating hormone (MSH). The encoded protein, a seven pass transmembrane G protein coupled receptor, controls melanogenesis. Two types of melanin exist: red pheomelanin and black eumelanin

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs1110400	T>C	Likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs1805006	C>A,G	Likely-benign, risk-factor, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs1805007	C>A,G,T	Pathogenic, association, likely-benign, benign, affects, risk-factor	Missense variant, coding sequence variant
rs1805008	C>T	Pathogenic, association, likely-benign, affects, risk-factor	Missense variant, coding sequence variant
rs34158934	C>T	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs34474212	T>C	Conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, coding sequence variant
rs34540312	G>A,C	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs104894523	C>A,T	Risk-factor	Coding sequence variant, missense variant
rs104894524	C>G,T	Risk-factor	Coding sequence variant, missense variant
rs201326893	C>A	Likely-benign, uncertain-significance, pathogenic	Stop gained, coding sequence variant
rs201533137	C>T	Likely-pathogenic, uncertain-significance	Stop gained, coding sequence variant
rs370441592	C>A,T	Conflicting-interpretations-of-pathogenicity	Stop gained, coding sequence variant, synonymous variant
rs373224783	C>A,G	Likely-pathogenic	Missense variant, coding sequence variant
rs376670171	G>A,T	Likely-pathogenic, benign, likely-benign	Missense variant, coding sequence variant
rs747777879	GTC>-	Likely-pathogenic	Inframe deletion, coding sequence variant
rs1310082996	TCT>-	Risk-factor	Coding sequence variant, inframe deletion

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT1136269	hsa-miR-1202	CLIP-seq
MIRT1136270	hsa-miR-1205	CLIP-seq
MIRT1136271	hsa-miR-1286	CLIP-seq
MIRT1136272	hsa-miR-3120-5p	CLIP-seq
MIRT1136273	hsa-miR-346	CLIP-seq
MIRT1136274	hsa-miR-3972	CLIP-seq
MIRT1136275	hsa-miR-4269	CLIP-seq
MIRT1136276	hsa-miR-4288	CLIP-seq
MIRT1136277	hsa-miR-4420	CLIP-seq
MIRT1136278	hsa-miR-4446-3p	CLIP-seq
MIRT1136279	hsa-miR-4514	CLIP-seq
MIRT1136280	hsa-miR-4649-5p	CLIP-seq
MIRT1136281	hsa-miR-4675	CLIP-seq
MIRT1136282	hsa-miR-4685-5p	CLIP-seq
MIRT1136283	hsa-miR-4692	CLIP-seq
MIRT1136284	hsa-miR-4722-5p	CLIP-seq
MIRT1136285	hsa-miR-4741	CLIP-seq
MIRT1136286	hsa-miR-4742-5p	CLIP-seq
MIRT1136287	hsa-miR-4755-3p	CLIP-seq
MIRT1136288	hsa-miR-4776-3p	CLIP-seq
MIRT1136289	hsa-miR-626	CLIP-seq
MIRT1136290	hsa-miR-632	CLIP-seq
MIRT1136291	hsa-miR-635	CLIP-seq
MIRT2038779	hsa-miR-1178	CLIP-seq
MIRT2038780	hsa-miR-122	CLIP-seq
MIRT2038781	hsa-miR-1343	CLIP-seq
MIRT2038782	hsa-miR-1915	CLIP-seq
MIRT2038783	hsa-miR-3074-5p	CLIP-seq
MIRT2038784	hsa-miR-3124-3p	CLIP-seq
MIRT2038785	hsa-miR-3165	CLIP-seq
MIRT2038786	hsa-miR-3189-5p	CLIP-seq
MIRT2038787	hsa-miR-342-5p	CLIP-seq
MIRT2038788	hsa-miR-3657	CLIP-seq
MIRT2038789	hsa-miR-3691-5p	CLIP-seq
MIRT2038790	hsa-miR-4264	CLIP-seq
MIRT1136275	hsa-miR-4269	CLIP-seq
MIRT1136277	hsa-miR-4420	CLIP-seq
MIRT2038791	hsa-miR-4433	CLIP-seq
MIRT2038792	hsa-miR-4481	CLIP-seq
MIRT1136279	hsa-miR-4514	CLIP-seq
MIRT2038793	hsa-miR-4651	CLIP-seq
MIRT2038794	hsa-miR-4664-5p	CLIP-seq
MIRT1136283	hsa-miR-4692	CLIP-seq
MIRT2038795	hsa-miR-4704-3p	CLIP-seq
MIRT2038796	hsa-miR-4726-3p	CLIP-seq
MIRT1136286	hsa-miR-4742-5p	CLIP-seq
MIRT2038797	hsa-miR-4745-5p	CLIP-seq
MIRT2038798	hsa-miR-499a-5p	CLIP-seq
MIRT2038799	hsa-miR-513a-5p	CLIP-seq
MIRT2038800	hsa-miR-556-3p	CLIP-seq
MIRT2038801	hsa-miR-608	CLIP-seq
MIRT2038802	hsa-miR-616	CLIP-seq
MIRT2038803	hsa-miR-665	CLIP-seq
MIRT2038804	hsa-miR-767-3p	CLIP-seq
MIRT2268784	hsa-miR-338-5p	CLIP-seq
MIRT2268785	hsa-miR-377	CLIP-seq
MIRT2268786	hsa-miR-3914	CLIP-seq
MIRT2268787	hsa-miR-873	CLIP-seq
MIRT2038780	hsa-miR-122	CLIP-seq
MIRT2038782	hsa-miR-1915	CLIP-seq
MIRT2038788	hsa-miR-3657	CLIP-seq
MIRT2038791	hsa-miR-4433	CLIP-seq
MIRT2038792	hsa-miR-4481	CLIP-seq
MIRT2038796	hsa-miR-4726-3p	CLIP-seq
MIRT2038797	hsa-miR-4745-5p	CLIP-seq
MIRT2038803	hsa-miR-665	CLIP-seq
MIRT2038782	hsa-miR-1915	CLIP-seq
MIRT2268785	hsa-miR-377	CLIP-seq
MIRT2268786	hsa-miR-3914	CLIP-seq
MIRT2268787	hsa-miR-873	CLIP-seq
MIRT2038782	hsa-miR-1915	CLIP-seq
MIRT2268785	hsa-miR-377	CLIP-seq
MIRT2268786	hsa-miR-3914	CLIP-seq
MIRT2268787	hsa-miR-873	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
MITF	Unknown	12204775

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004930	Function	G protein-coupled receptor activity	IEA
GO:0004977	Function	Melanocortin receptor activity	IEA
GO:0004977	Function	Melanocortin receptor activity	TAS	9571181
GO:0004980	Function	Melanocyte-stimulating hormone receptor activity	IBA
GO:0004980	Function	Melanocyte-stimulating hormone receptor activity	IEA
GO:0004980	Function	Melanocyte-stimulating hormone receptor activity	IPI	19743876
GO:0005515	Function	Protein binding	IPI	19329486, 19743876, 31097585
GO:0005737	Component	Cytoplasm	IBA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	19452503, 31097585
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS	9571181
GO:0007165	Process	Signal transduction	IEA
GO:0007186	Process	G protein-coupled receptor signaling pathway	IEA
GO:0007187	Process	G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger	TAS	9571181
GO:0007189	Process	Adenylate cyclase-activating G protein-coupled receptor signaling pathway	IBA
GO:0007189	Process	Adenylate cyclase-activating G protein-coupled receptor signaling pathway	IDA	19329486, 19743876
GO:0007189	Process	Adenylate cyclase-activating G protein-coupled receptor signaling pathway	IEA
GO:0007200	Process	Phospholipase C-activating G protein-coupled receptor signaling pathway	IEA
GO:0007200	Process	Phospholipase C-activating G protein-coupled receptor signaling pathway	ISS	18292087
GO:0008528	Function	G protein-coupled peptide receptor activity	TAS	18292087
GO:0009650	Process	UV protection	TAS	7581459
GO:0010468	Process	Regulation of gene expression	IEA
GO:0016020	Component	Membrane	IEA
GO:0019233	Process	Sensory perception of pain	IEA
GO:0031625	Function	Ubiquitin protein ligase binding	IPI	19737927
GO:0032720	Process	Negative regulation of tumor necrosis factor production	IMP	10233018
GO:0035556	Process	Intracellular signal transduction	IEA
GO:0035556	Process	Intracellular signal transduction	ISS	18292087
GO:0042438	Process	Melanin biosynthetic process	IBA
GO:0042438	Process	Melanin biosynthetic process	IEA
GO:0042562	Function	Hormone binding	IEA
GO:0043473	Process	Pigmentation	TAS	18292087
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	ISS	18292087
GO:0060259	Process	Regulation of feeding behavior	IEA
GO:0070914	Process	UV-damage excision repair	IDA	18292087
GO:0141163	Process	Positive regulation of cAMP/PKA signal transduction	IBA
GO:0141163	Process	Positive regulation of cAMP/PKA signal transduction	IEA
GO:0141163	Process	Positive regulation of cAMP/PKA signal transduction	ISS	18292087
GO:2000253	Process	Positive regulation of feeding behavior	IEA

Other IDs

• MIM: 155555
• HGNC: 6929
• e!Ensembl: ENSG00000258839

Protein

• UniProt ID: Q01726
• Protein name: Melanocyte-stimulating hormone receptor (MSH-R) (Melanocortin receptor 1) (MC1-R)
• Protein function: Receptor for MSH (alpha, beta and gamma) and ACTH (PubMed:11442765, PubMed:11707265, PubMed:1325670, PubMed:1516719, PubMed:8463333). The activity of this receptor is mediated by G proteins which activate adenylate cyclase (PubMed:11707265, PubM
• PDB: 7F4D, 7F4F, 7F4H, 7F4I
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00001	7tm_1	55 → 298	7 transmembrane receptor (rhodopsin family)	Family

• Tissue specificity: TISSUE SPECIFICITY: Expressed in melanocytes (PubMed:1325670, PubMed:31097585). Expressed in corticoadrenal tissue (PubMed:1325670). {ECO:0000269|PubMed:1325670, ECO:0000269|PubMed:31097585}.
• Sequence:

  MAVQGSQRRLLGSLNSTPTAIPQLGLAANQTGARCLEVSISDGLFLSLGLVSLVENALVV
  ATIAKNRNLHSPMYCFICCLALSDLLVSGSNVLETAVILLLEAGALVARAAVLQQLDNVI
  DVITCSSMLSSLCFLGAIAVDRYISIFYALRYHSIVTLPRARRAVAAIWVASVVFSTLFI
  AYYDHVAVLLCLVVFFLAMLVLMAVLYVHMLARACQHAQGIARLHKRQRPVHQGFGLKGA
  VTLTILLGIFFLCWGPFFLHLTLIVLCPEHPTCGCIFKNFNLFLALIICNAIIDPLIYAF
  HSQELRRTLKEVLTCSW

• Sequence length: 317

Pathways

KEGG:

Neuroactive ligand-receptor interaction
Hormone signaling
Melanogenesis

Reactome:

Peptide ligand-binding receptors
G alpha (s) signalling events
ADORA2B mediated anti-inflammatory cytokines production

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
Skin and Hair Hypopigmentation	Likely pathogenic	rs143395134	RCV000851265	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 2	Likely pathogenic; Pathogenic	rs2045705764	RCV001310272	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Tyrosinase-positive oculocutaneous albinism	Likely pathogenic	rs143395134	RCV000662304	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ALBINISM, OCULOCUTANEOUS, TYPE II, MODIFIER OF	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BASAL CELL CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
bilateral breast cancer	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BLEPHARITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, BASAL CELL	—	CTD	★★☆☆☆ 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
DEPRESSIVE DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ERYTHEMATOSQUAMOUS DERMATOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial melanoma	Uncertain significance	ClinVar Orphanet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Hereditary cancer-predisposing syndrome	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERALGESIA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Increased analgesia from kappa-opioid receptor agonist, female-specific	Uncertain significance; Conflicting classifications of pathogenicity; Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KERATINOCYTE CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Macular degeneration, age-related, neovascular type	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSION, SINGLE EPISODE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant Melanoma Susceptibility	Conflicting classifications of pathogenicity; Uncertain significance; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of breast	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MC1R-related disorder	Likely benign; Conflicting classifications of pathogenicity; Benign; Uncertain significance; risk factor	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Conflicting classifications of pathogenicity; risk factor	ClinVar CTD, GWAS catalog CTD, GWAS catalog	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
MELANOMA, CUTANEOUS MALIGNANT	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma, cutaneous malignant, susceptibility to, 1	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma, cutaneous malignant, susceptibility to, 5	Uncertain significance; Likely benign; Benign; Conflicting classifications of pathogenicity; risk factor	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL DEPRESSION	—	Disgenet	★★☆☆☆ 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, Disgenet, Orphanet CTD, Disgenet, Orphanet CTD, Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RECURRENT MAJOR DEPRESSIVE EPISODES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RESPIRATORY SYSTEM NEOPLASM	—	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
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 2, blond hair/fair skin	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Skin/hair/eye pigmentation 2, red hair/fair skin	Conflicting classifications of pathogenicity; risk factor; Benign	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
UV-induced skin damage, susceptibility to	risk factor; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VITILIGO	—	CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Aarskog syndrome	Aarskog Syndrome	BEFREE	22337906		★☆☆☆☆ Found in Text Mining only
ABCD syndrome	Abcd syndrome	Pubtator	22965007	Associate	★☆☆☆☆ Found in Text Mining only
Actinic keratosis	Actinic keratosis	BEFREE	25724930, 27646882		★☆☆☆☆ Found in Text Mining only
Adult Hodgkin Lymphoma	Hodgkin Lymphoma	BEFREE	17438182		★☆☆☆☆ Found in Text Mining only
Albinism	Albinism	Pubtator	21541274, 35488210	Associate	★☆☆☆☆ Found in Text Mining only
Albinism	Albinism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Albinism Oculocutaneous	Oculocutaneous albinism	Pubtator	12876664, 21052032	Associate	★☆☆☆☆ Found in Text Mining only
Albinism, Oculocutaneous	Oculocutaneous albinism	BEFREE	12876664, 21052032, 27776349		★☆☆☆☆ Found in Text Mining only
Albinism, Oculocutaneous	Oculocutaneous albinism	LHGDN	12876664, 17960121		★☆☆☆☆ Found in Text Mining only
Allergic rhinitis (disorder)	Allergic rhinitis	BEFREE	27196703		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	24742402, 28059796	Associate	★☆☆☆☆ Found in Text Mining only
Alzheimer Disease, Late Onset	Alzheimer disease	BEFREE	28059796		★☆☆☆☆ Found in Text Mining only
Angelman Syndrome	Angelman Syndrome	BEFREE	20571502, 21733131		★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	BEFREE	19571053, 23146638		★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety disorder	Pubtator	19571053, 35301265	Associate	★☆☆☆☆ Found in Text Mining only
Anxiety Disorders	Anxiety Disorder	BEFREE	19571053, 23146638		★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	28450348, 29284608		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	28450348, 29284608		★☆☆☆☆ Found in Text Mining only
Basal Cell Cancer	Basal Cell Neoplasm	GWASCAT_DG	21700618, 27539887, 31174203		★☆☆☆☆ Found in Text Mining only
Basal Cell Cancer	Basal Cell Neoplasm	BEFREE	31437847		★☆☆☆☆ Found in Text Mining only
Basal cell carcinoma	Carcinoma	LHGDN	16645598, 18067130		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Basal cell carcinoma	Carcinoma	GWASCAT_DG	21700618, 27539887, 31174203		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Basal Cell Neoplasm	Basal Cell Neoplasm	GWASCAT_DG	21700618, 27539887, 31174203		★☆☆☆☆ Found in Text Mining only
Basal Cell Nevus Syndrome	Basal Cell Neoplasm	BEFREE	18539553		★☆☆☆☆ Found in Text Mining only
Basal Cell Nevus Syndrome	Basal cell nevus syndrome	Pubtator	25159867	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	16988943		★☆☆☆☆ Found in Text Mining only
Carcinoma Basal Cell	Basal cell carcinoma	Pubtator	11179997, 11254446, 16645598, 21700618, 22158557, 25159867, 25858289, 26103569	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	11179997, 11254446, 22797298, 24238329, 24742402, 26103569, 27424798, 29054604, 29405243	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Basal Cell	Carcinoma	BEFREE	10029451, 10340440, 10383895, 11179997, 15105175, 16645598, 16721784, 18067130, 18488027, 18637131, 20546211, 21270109, 21700618, 22158557, 22512251, 25080371, 25159867, 25809071, 25858289, 26381319		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carcinoma, Basal Cell	Carcinoma	CTD_human_DG	18539553		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carcinoma, Basal Cell	Carcinoma	GWASDB_DG	21700618		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carcinoma, Basal Cell	Carcinoma	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chloasma	Melasma	BEFREE	29846953		★☆☆☆☆ Found in Text Mining only
Color Vision Defects	Color vision deficiency	Pubtator	24000325	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	32375704, 34698109, 35484177, 36356413	Associate	★☆☆☆☆ Found in Text Mining only
Congenital melanocytic nevus	Congenital Melanocytic Nevus	BEFREE	22572819		★☆☆☆☆ Found in Text Mining only
Congenital melanocytic nevus	Congenital Melanocytic Nevus	ORPHANET_DG	22572819		★☆☆☆☆ Found in Text Mining only
Congenital Mesoblastic Nephroma	Congenital Mesoblastic Nephroma	BEFREE	22572819		★☆☆☆☆ Found in Text Mining only
Congenital nystagmus	Congenital nystagmus	BEFREE	21541274		★☆☆☆☆ Found in Text Mining only
Cutaneous Melanoma	Melanoma	BEFREE	10631149, 11254446, 11481256, 11500806, 11511307, 12601281, 12883368, 14612910, 15105175, 16567973, 16601669, 17072629, 17223878, 18488027, 18510673, 18637131, 18657399, 18761657, 19077144, 19493000, 19571821, 19710684, 20539244, 21128237, 21693730, 22325793, 22804906, 22978401, 23096702, 24443365, 24588892, 24742402, 24917043, 27473757		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cutaneous Melanoma	Melanoma	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Depressive disorder	Mental Depression	BEFREE	21052032		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Depressive disorder	Mental Depression	PSYGENET_DG	21052032		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Depressive Disorder	Major depressive disorder	Pubtator	21052032, 35301265	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Depressive Disorder Major	Major depressive disorder	Pubtator	21052032, 35955479	Associate	★☆☆☆☆ Found in Text Mining only
Dermatitis	Dermatitis	BEFREE	31220451		★☆☆☆☆ Found in Text Mining only
Dermatologic disorders	Dermatologic Disorders	BEFREE	17916200		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	35955479	Associate	★☆☆☆☆ Found in Text Mining only
Diffuse Large B-Cell Lymphoma	Diffuse Lymphoma	BEFREE	20129839		★☆☆☆☆ Found in Text Mining only
Dyschromatosis universalis hereditaria	Dyschromatosis Universalis Hereditaria	BEFREE	28382689		★☆☆☆☆ Found in Text Mining only
Dyschromatosis universalis hereditaria	Dyschromatosis symmetrica hereditaria	Pubtator	28382689	Associate	★☆☆☆☆ Found in Text Mining only
Dysplastic Nevus	Dysplastic Nevus	BEFREE	16214921, 19484507, 25809071		★☆☆☆☆ Found in Text Mining only
Epidermal Nevus	Epidermal nevus	Pubtator	22965007, 35701387	Associate	★☆☆☆☆ Found in Text Mining only
Essential Tremor	Tremor	BEFREE	30252209		★☆☆☆☆ Found in Text Mining only
Essential Tremor	Essential tremor	Pubtator	30252209	Associate	★☆☆☆☆ Found in Text Mining only
Exotropia	Exotropia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Familial Atypical Mole Melanoma Syndrome	Atypical Mole Melanoma Syndrome	BEFREE	11500806		★☆☆☆☆ Found in Text Mining only
Familial Atypical Mole Melanoma Syndrome	Atypical Mole Melanoma Syndrome	ORPHANET_DG	24238329, 24258989		★☆☆☆☆ Found in Text Mining only
Familial glucocorticoid deficiency	Glucocorticoid Deficiency	BEFREE	22337906		★☆☆☆☆ Found in Text Mining only
Familial melanoma	Melanoma	Orphanet			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
GIANT PIGMENTED HAIRY NEVUS	Large congenital melanocytic nevus	ORPHANET_DG	22572819		★☆☆☆☆ Found in Text Mining only
GIANT PIGMENTED HAIRY NEVUS	Large congenital melanocytic nevus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	BEFREE	20856883		★☆☆☆☆ Found in Text Mining only
Glucocorticoid Deficiency 2	Glucocorticoid deficiency	Pubtator	22337906	Associate	★☆☆☆☆ Found in Text Mining only
Head and Neck Neoplasms	Head and neck neoplasm	Pubtator	20721616, 23096702	Associate	★☆☆☆☆ Found in Text Mining only
Heart Defects Congenital	Congenital heart defect	Pubtator	28947386	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary Melanoma	Hereditary cutaneous melanoma	BEFREE	20539244, 23392000, 28146043, 29405243		★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin Disease	BEFREE	17438182		★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington disease	Pubtator	24742402	Associate	★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington Disease	BEFREE	27924526		★☆☆☆☆ Found in Text Mining only
Hydrocephalus	Hydrocephalus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypopigmentation disorder	Hypopigmentation Disorder	BEFREE	21733131		★☆☆☆☆ Found in Text Mining only
Hypotrichosis simplex	Hypotrichosis simplex	BEFREE	26030184		★☆☆☆☆ Found in Text Mining only
Idiopathic Membranous Glomerulonephritis	Membranous Glomerulonephritis	BEFREE	27270328		★☆☆☆☆ Found in Text Mining only
INCREASED ANALGESIA FROM KAPPA-OPIOID RECEPTOR AGONIST, FEMALE-SPECIFIC (disorder)	Increased analgesia from kappa-opioid receptor agonist, female-specific	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Inflammatory abnormality of the eye	Inflammatory abnormality of the eye	BEFREE	30692924		★☆☆☆☆ Found in Text Mining only
Large congenital melanocytic nevus	Large congenital melanocytic nevus	Orphanet			★☆☆☆☆ Found in Text Mining only
Lentigo maligna melanoma	Lentigo maligna melanoma	BEFREE	23647022		★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid	Myeloid leukemia	Pubtator	12177778	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoma, Follicular	Lymphoma	BEFREE	20129839		★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	BEFREE	21052032		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	16988943		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	11720436, 15748648		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of skin	Skin cancer	BEFREE	10340440, 11254446, 11487574, 11918717, 12006619, 12394181, 15372380, 15533235, 15650023, 15972726, 16681590, 16721784, 16982779, 17130136, 17222061, 17279550, 17616515, 17916200, 18067130, 18402696, 18510673, 18539553, 18637131, 18717860, 19338054, 19384953, 19452503, 20126537, 20374726, 20601102, 21084381, 21222265, 21270109, 21749400, 22158557, 22447455, 22862891, 23000456, 24742402, 24759085, 24807163, 24917043, 25219681, 25858289, 25943250, 26381319, 28030792, 29124692, 29178624, 29714486, 29801061, 29968341, 31437847		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of thyroid	Thyroid cancer	BEFREE	19493000		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	16417234, 16845407, 17222061, 19493000, 19755124, 19932942, 21084381, 25080371, 28138237, 28259754		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	HPO_DG			★☆☆☆☆ Found in Text Mining only
Melanocytic nevus	Melanocytic nevus	BEFREE	10465111, 14709592, 15005091, 16214921, 22965007, 25003831, 25307738, 25410285, 25736238, 27993549, 29340229, 30585306, 30820946, 31674665		★☆☆☆☆ Found in Text Mining only
Melanocytic nevus syndrome congenital	Melanocytic nevus	Pubtator	10465111	Associate	★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	10471058, 10596908, 10631149, 10644013, 11179997, 11500805, 11500806, 11511307, 11708951, 11833005, 11900878, 12439754, 12473109, 12601281, 12789280, 12883368, 14612910, 14709592, 15005091, 15221796, 15883616, 15889046, 15998953, 16172233, 16567973, 16601669, 16720302, 16721784, 16809487, 16982779, 16988943, 17066441, 17072629, 17223878, 17397031, 17434924, 17492760, 17496785, 18366057, 18368129, 18454494, 18488027, 18510673, 18637131, 18641652, 18683857, 18717677, 18761657, 18787543, 18795926, 18983535, 19077144, 19095153, 19269164, 19338054, 19339902, 19484507, 19493000, 19571821, 19578364, 19585506, 19755124, 19799798, 19837749, 20010862, 20189796, 20301115, 20374726, 20526219, 20539244, 20629734, 20721616, 20876876, 21052032, 21128237, 21270109, 21559390, 21693730, 21926416, 22095472, 22251241, 22325793, 22464347, 22475760, 22493442, 22497519, 22621339, 22804906, 22965007, 22978401, 23000456, 23096702, 23116461, 23384855, 23392000, 23486431, 23522749, 23537197, 23647022, 23763620, 23962207, 23973372, 24134749, 24170137, 24241239, 24258989, 24588892, 24660985, 24665948, 24742402, 24807163, 24814217, 24917043, 24982914, 25003831, 25017567, 25219681, 25284244, 25346513, 25382380, 25631192, 25736238, 25790105, 25943250, 25980496, 26349638, 26628245, 26702765, 26807515, 27050141, 27131830, 27403562, 27473757, 27540956, 27755135, 27993549, 28019657, 28024115, 28094871, 28138237, 28146043, 28382155, 28452072, 28463841, 28486572, 28578648, 28625749, 28676423, 28714883, 28746718, 28842324, 28869973, 28950052, 29058865, 29061376, 29094944, 29179997, 29182034, 29316344, 29317335, 29622793, 29714486, 29898205, 29968341, 30117292, 30224375, 30267482, 30404861, 30585306, 30680790, 30763112, 30787281, 30798934, 30820946, 30901323, 30912594, 31016712, 31297699, 31318566, 31398282, 31437847, 31472961, 31488411, 31567591, 31630191, 31674665, 31794051, 8894704, 9699720		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Melanoma	Melanoma	Pubtator	10536983, 11179997, 11500805, 11500806, 11511307, 11833005, 12177778, 16417234, 16601669, 17611626, 18025365, 18368129, 18454494, 18510673, 18787543, 18795926, 18803811, 19578364, 19799798, 20467398, 20519635, 20721616, 20876876, 21052032, 21559390, 21983785, 22011200, 22095472, 22325793, 22464597, 22797298, 22965007, 22978401, 23096702, 23360207, 23384855, 23393597, 23647022, 23908401, 24134749, 24588892, 24742402, 24884915, 24917043, 24982914, 25003831, 25382380, 25790105, 25794181, 25980496, 26168232, 26349638, 27131830, 27403562, 27683220, 27755135, 27776349, 27993549, 28094871, 28146043, 28746718, 28842324, 29061376, 29246956, 29317335, 29583157, 29801061, 29890168, 29898205, 29968341, 30252209, 30414346, 30872112, 31016712, 31437847, 31488411, 31630191, 32455486, 32773237, 32898390, 34689017, 34698109, 35357426, 35552458, 35701387, 36879448, 37762683, 37958811, 9699720	Associate	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
melanoma	Melanoma	LHGDN	11500805, 11500806, 12177778, 12439754, 14757863, 15221796, 15998953, 16601669, 16809487, 17072629, 17397031, 17434924, 17496785, 18368129, 18657399, 18683857, 18983535		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
melanoma	Melanoma	CTD_human_DG	19578364, 21559390, 21983785		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
melanoma	Melanoma	GWASCAT_DG	28212542		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
melanoma	Melanoma	HPO_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Melanoma Amelanotic	Melanoma	Pubtator	28746718	Associate	★☆☆☆☆ Found in Text Mining only
Melanoma Cutaneous Malignant	Melanoma	Pubtator	10465111, 10631149, 11254446, 11511307, 14612910, 16601669, 18510673, 18761657, 18803811, 19710684, 22095472, 22325793, 22464597, 22978401, 23096702, 24238329, 24588892, 24742402, 24917043, 27403562, 32898390	Associate	★☆☆☆☆ Found in Text Mining only
Melanoma, Amelanotic	Melanoma	BEFREE	19339902, 22497519, 28746718		★☆☆☆☆ Found in Text Mining only
Melanosis	Melanosis	GWASCAT_DG	17952075, 30166351		★☆☆☆☆ Found in Text Mining only
Melanosis	Melanosis	BEFREE	31296164		★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	21052032		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mental Depression	Mental Depression	PSYGENET_DG	21052032		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mesothelioma	Mesothelioma	BEFREE	14576363		★☆☆☆☆ Found in Text Mining only
Metastatic melanoma	Metastatic Melanoma	BEFREE	21222265, 27540956, 30404861, 30763112, 31318566		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	14729004, 18711112, 28501589		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	LHGDN	18711112		★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neck Neoplasms	Neck Neoplasms	BEFREE	23486431		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	12439754, 14612910, 15159314, 16172233, 16809487, 18761657, 19077144, 19837749, 20546211, 22325793, 23096702, 23116461, 23384855, 23763620, 24742402, 25790105, 28024115, 28382155, 28578648, 29317335, 29873290, 30267482, 30404861, 30763112, 31163066, 31318566		★☆☆☆☆ Found in Text Mining only
Nephrotic Syndrome	Nephrotic Syndrome	BEFREE	30356069		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	24742402, 28947386	Associate	★☆☆☆☆ Found in Text Mining only
Nevus	Nevus	BEFREE	14709592, 16214921, 22158557, 22965007, 25003831, 25410285, 25736238, 27993549, 30820946, 31674665		★☆☆☆☆ Found in Text Mining only
Nevus	Nevus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nevus, Blue	Blue Nevus	BEFREE	28950052		★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	17228030	Stimulate	★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	21787368, 27394708		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	27394708	Associate	★☆☆☆☆ Found in Text Mining only
Oculocutaneous albinism type 2	Oculocutaneous albinism	BEFREE	12876664, 19710684, 20019752		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Oculocutaneous albinism type 2	Oculocutaneous albinism	ORPHANET_DG	12876664		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Oculocutaneous albinism type 2	Oculocutaneous albinism	Pubtator	12876664	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Oculocutaneous albinism type 2	Oculocutaneous albinism	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Oculocutaneous albinism type 2	Oculocutaneous albinism	CLINVAR_DG	26197705		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Oculocutaneous albinism type 2	Oculocutaneous albinism	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pain Insensitivity Congenital	Congenital pain insensitivity	Pubtator	21052032	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasm	Pancreatic Neoplasm	HPO_DG			★☆☆☆☆ Found in Text Mining only
Papillary thyroid carcinoma	Papillary thyroid carcinoma	BEFREE	19493000		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	17492760, 25284244, 25631192, 26628245, 27084066, 27131830, 28019657, 30252209		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	19194882, 24742402, 27131830, 30252209	Associate	★☆☆☆☆ Found in Text Mining only
Piebaldism	Piebaldism	BEFREE	22670867, 24000325		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	11720436, 15748648		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	11720436, 23860522, 29518100	Associate	★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	BEFREE	17916200, 20802377		★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal Diseases	HPO_DG			★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma	Rhabdomyosarcoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
SCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT	Scapuloperoneal Myopathy, X-Linked	BEFREE	16172233, 20721616		★☆☆☆☆ Found in Text Mining only
Septicemia	Septicemia	BEFREE	27488084		★☆☆☆☆ Found in Text Mining only
Skin carcinoma	Skin Carcinoma	BEFREE	11254446, 11511307, 11708951, 20374726, 24742402, 26103569		★☆☆☆☆ Found in Text Mining only
Skin carcinoma	Skin Carcinoma	GWASDB_DG	23548203		★☆☆☆☆ Found in Text Mining only
Skin Diseases	Skin disease	Pubtator	11179997, 29898205, 34326492	Associate	★☆☆☆☆ Found in Text Mining only
Skin lesion	Skin Lesion	BEFREE	11179997		★☆☆☆☆ Found in Text Mining only
Skin Neoplasms	Skin neoplasm	Pubtator	11254446, 17130136, 18402696, 18510673, 19452503, 21700618, 22862891, 24134749, 24742402, 25705849, 26103569, 26702765, 28030792, 29968341, 31437847, 32350296, 34326492, 34455851, 35845857, 38546209, 9665397	Associate	★☆☆☆☆ Found in Text Mining only
Skin Neoplasms	Skin Neoplasms	LHGDN	12006619, 12753400, 15972726, 16721784, 17130136, 17960564, 18717860, 18803811		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	11179997, 16721784, 24742402, 26103569, 29405243		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Squamous cell carcinoma	Carcinoma	GWASCAT_DG	31174203		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Squamous cell carcinoma of skin	Skin carcinoma	BEFREE	15105175		★☆☆☆☆ Found in Text Mining only
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
Stomach Neoplasms	Stomach Neoplasms	HPO_DG			★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Subarachnoid Hemorrhage	Subarachnoid hemorrhage	BEFREE	31486022		★☆☆☆☆ Found in Text Mining only
Thyroid carcinoma	Thyroid Carcinoma	BEFREE	19493000		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	BEFREE	19493000		★☆☆☆☆ Found in Text Mining only
Unipolar Depression	Mental Depression	BEFREE	21052032		★☆☆☆☆ Found in Text Mining only
Uveal melanoma	Uveal Melanoma	BEFREE	11481256, 14612910		★☆☆☆☆ Found in Text Mining only
Vitiligo	Vitiligo	BEFREE	18282185, 25219681, 26437741, 29145845, 31306558		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Vitiligo	Vitiligo	CTD_human_DG	22561518		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Vitiligo	Vitiligo	Pubtator	33757175, 33790887, 35411132	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding)	Vitiligo-associated SYSTEMIC LUPUS ERYTHEMATOSUS	BEFREE	18282185, 25219681, 26437741, 29145845, 31306558		★☆☆☆☆ Found in Text Mining only
Xeroderma Pigmentosum	Xeroderma Pigmentosum	BEFREE	28916831, 29178624		★☆☆☆☆ Found in Text Mining only