GPNMB (glycoprotein nmb)

Gene

• Entrez ID: 10457
• Gene name: Glycoprotein nmb
• Gene symbol: GPNMB
• Synonyms (NCBI Gene): HGFIN, NMB, PLCA3
• Chromosome: 7
• Chromosome location: 7p15.3
• Summary: The protein encoded by this gene is a type I transmembrane glycoprotein which shows homology to the pMEL17 precursor, a melanocyte-specific protein. GPNMB shows expression in the lowly metastatic human melanoma cell lines and xenografts but does not show

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs140352180	C>A,T	Pathogenic	Synonymous variant, stop gained, coding sequence variant
rs747723062	TG>-	Pathogenic	Frameshift variant, coding sequence variant
rs763065333	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs770211260	T>C,G	Pathogenic	Coding sequence variant, synonymous variant, stop gained
rs773435101	GTTT>-	Pathogenic	Coding sequence variant, frameshift variant
rs1554300664	A>-	Pathogenic	Coding sequence variant, frameshift variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT030247	hsa-miR-26b-5p	Microarray	19088304
MIRT731326	hsa-miR-508-5p	Luciferase reporter assay	27003587
MIRT731326	hsa-miR-508-5p	Luciferase reporter assay	27003587
MIRT2005502	hsa-miR-3649	CLIP-seq
MIRT2005503	hsa-miR-548aa	CLIP-seq
MIRT2005504	hsa-miR-548ac	CLIP-seq
MIRT2005505	hsa-miR-548d-3p	CLIP-seq
MIRT2005506	hsa-miR-548z	CLIP-seq
MIRT2005507	hsa-miR-935	CLIP-seq
MIRT2542146	hsa-miR-1206	CLIP-seq
MIRT2542147	hsa-miR-1224-3p	CLIP-seq
MIRT2542148	hsa-miR-1254	CLIP-seq
MIRT2542149	hsa-miR-1260	CLIP-seq
MIRT2542150	hsa-miR-1260b	CLIP-seq
MIRT2542151	hsa-miR-127-5p	CLIP-seq
MIRT2542152	hsa-miR-128	CLIP-seq
MIRT2542153	hsa-miR-1280	CLIP-seq
MIRT2542154	hsa-miR-140-3p	CLIP-seq
MIRT2542155	hsa-miR-183	CLIP-seq
MIRT2542156	hsa-miR-205	CLIP-seq
MIRT2542157	hsa-miR-22	CLIP-seq
MIRT2542158	hsa-miR-2355-5p	CLIP-seq
MIRT2542159	hsa-miR-2861	CLIP-seq
MIRT2542160	hsa-miR-3116	CLIP-seq
MIRT2542161	hsa-miR-3119	CLIP-seq
MIRT2542162	hsa-miR-3129-3p	CLIP-seq
MIRT2542163	hsa-miR-3140-3p	CLIP-seq
MIRT2542164	hsa-miR-3148	CLIP-seq
MIRT2542165	hsa-miR-3157-5p	CLIP-seq
MIRT2542166	hsa-miR-3163	CLIP-seq
MIRT2542167	hsa-miR-320a	CLIP-seq
MIRT2542168	hsa-miR-320b	CLIP-seq
MIRT2542169	hsa-miR-320c	CLIP-seq
MIRT2542170	hsa-miR-320d	CLIP-seq
MIRT2542171	hsa-miR-323b-5p	CLIP-seq
MIRT2542172	hsa-miR-338-3p	CLIP-seq
MIRT2542173	hsa-miR-338-5p	CLIP-seq
MIRT2542174	hsa-miR-342-3p	CLIP-seq
MIRT2542175	hsa-miR-3609	CLIP-seq
MIRT2542176	hsa-miR-361-5p	CLIP-seq
MIRT2542177	hsa-miR-3616-5p	CLIP-seq
MIRT2542178	hsa-miR-3646	CLIP-seq
MIRT2542179	hsa-miR-3647-5p	CLIP-seq
MIRT2542180	hsa-miR-3654	CLIP-seq
MIRT2542181	hsa-miR-3659	CLIP-seq
MIRT2542182	hsa-miR-3688-3p	CLIP-seq
MIRT2542183	hsa-miR-378	CLIP-seq
MIRT2542184	hsa-miR-378b	CLIP-seq
MIRT2542185	hsa-miR-378c	CLIP-seq
MIRT2542186	hsa-miR-378d	CLIP-seq
MIRT2542187	hsa-miR-378e	CLIP-seq
MIRT2542188	hsa-miR-378f	CLIP-seq
MIRT2542189	hsa-miR-378h	CLIP-seq
MIRT2542190	hsa-miR-378i	CLIP-seq
MIRT2542191	hsa-miR-382	CLIP-seq
MIRT2542192	hsa-miR-3923	CLIP-seq
MIRT2542193	hsa-miR-3973	CLIP-seq
MIRT2542194	hsa-miR-3978	CLIP-seq
MIRT2542195	hsa-miR-410	CLIP-seq
MIRT2542196	hsa-miR-422a	CLIP-seq
MIRT2542197	hsa-miR-4272	CLIP-seq
MIRT2542198	hsa-miR-4303	CLIP-seq
MIRT2542199	hsa-miR-4310	CLIP-seq
MIRT2542200	hsa-miR-4328	CLIP-seq
MIRT2542201	hsa-miR-433	CLIP-seq
MIRT2542202	hsa-miR-4429	CLIP-seq
MIRT2542203	hsa-miR-4432	CLIP-seq
MIRT2542204	hsa-miR-4433	CLIP-seq
MIRT2542205	hsa-miR-4438	CLIP-seq
MIRT2542206	hsa-miR-4453	CLIP-seq
MIRT2542207	hsa-miR-4459	CLIP-seq
MIRT2542208	hsa-miR-4496	CLIP-seq
MIRT2542209	hsa-miR-451b	CLIP-seq
MIRT2542210	hsa-miR-4530	CLIP-seq
MIRT2542211	hsa-miR-4538	CLIP-seq
MIRT2542212	hsa-miR-4637	CLIP-seq
MIRT2542213	hsa-miR-4639-5p	CLIP-seq
MIRT2542214	hsa-miR-4654	CLIP-seq
MIRT2542215	hsa-miR-4658	CLIP-seq
MIRT2542216	hsa-miR-4666-5p	CLIP-seq
MIRT2542217	hsa-miR-4682	CLIP-seq
MIRT2542218	hsa-miR-4691-3p	CLIP-seq
MIRT2542219	hsa-miR-4693-3p	CLIP-seq
MIRT2542220	hsa-miR-4712-3p	CLIP-seq
MIRT2542221	hsa-miR-4729	CLIP-seq
MIRT2542222	hsa-miR-4738-3p	CLIP-seq
MIRT2542223	hsa-miR-4762-3p	CLIP-seq
MIRT2542224	hsa-miR-4763-5p	CLIP-seq
MIRT2542225	hsa-miR-4768-3p	CLIP-seq
MIRT2542226	hsa-miR-4769-5p	CLIP-seq
MIRT2542227	hsa-miR-4774-5p	CLIP-seq
MIRT2542228	hsa-miR-4795-5p	CLIP-seq
MIRT2542229	hsa-miR-4802-3p	CLIP-seq
MIRT2542230	hsa-miR-4803	CLIP-seq
MIRT2542231	hsa-miR-487a	CLIP-seq
MIRT2542232	hsa-miR-491-3p	CLIP-seq
MIRT2542233	hsa-miR-494	CLIP-seq
MIRT2542234	hsa-miR-499-5p	CLIP-seq
MIRT2542235	hsa-miR-512-5p	CLIP-seq
MIRT2542236	hsa-miR-513b	CLIP-seq
MIRT2542237	hsa-miR-532-3p	CLIP-seq
MIRT2542238	hsa-miR-548ah	CLIP-seq
MIRT2542239	hsa-miR-548t	CLIP-seq
MIRT2542240	hsa-miR-573	CLIP-seq
MIRT2542241	hsa-miR-574-5p	CLIP-seq
MIRT2542242	hsa-miR-582-5p	CLIP-seq
MIRT2542243	hsa-miR-586	CLIP-seq
MIRT2542244	hsa-miR-595	CLIP-seq
MIRT2542245	hsa-miR-624	CLIP-seq
MIRT2542246	hsa-miR-627	CLIP-seq
MIRT2542247	hsa-miR-633	CLIP-seq
MIRT2542248	hsa-miR-635	CLIP-seq
MIRT2542249	hsa-miR-642a	CLIP-seq
MIRT2542250	hsa-miR-648	CLIP-seq
MIRT2542251	hsa-miR-651	CLIP-seq
MIRT2542252	hsa-miR-660	CLIP-seq
MIRT2542253	hsa-miR-661	CLIP-seq
MIRT2542254	hsa-miR-668	CLIP-seq
MIRT2542255	hsa-miR-766	CLIP-seq
MIRT2542256	hsa-miR-924	CLIP-seq
MIRT2005507	hsa-miR-935	CLIP-seq
MIRT2542146	hsa-miR-1206	CLIP-seq
MIRT2542147	hsa-miR-1224-3p	CLIP-seq
MIRT2542148	hsa-miR-1254	CLIP-seq
MIRT2542149	hsa-miR-1260	CLIP-seq
MIRT2542150	hsa-miR-1260b	CLIP-seq
MIRT2542153	hsa-miR-1280	CLIP-seq
MIRT2542154	hsa-miR-140-3p	CLIP-seq
MIRT2542155	hsa-miR-183	CLIP-seq
MIRT2542158	hsa-miR-2355-5p	CLIP-seq
MIRT2542159	hsa-miR-2861	CLIP-seq
MIRT2542160	hsa-miR-3116	CLIP-seq
MIRT2542161	hsa-miR-3119	CLIP-seq
MIRT2542162	hsa-miR-3129-3p	CLIP-seq
MIRT2542164	hsa-miR-3148	CLIP-seq
MIRT2542165	hsa-miR-3157-5p	CLIP-seq
MIRT2542166	hsa-miR-3163	CLIP-seq
MIRT2542171	hsa-miR-323b-5p	CLIP-seq
MIRT2542172	hsa-miR-338-3p	CLIP-seq
MIRT2542173	hsa-miR-338-5p	CLIP-seq
MIRT2542174	hsa-miR-342-3p	CLIP-seq
MIRT2542175	hsa-miR-3609	CLIP-seq
MIRT2542177	hsa-miR-3616-5p	CLIP-seq
MIRT2542179	hsa-miR-3647-5p	CLIP-seq
MIRT2542180	hsa-miR-3654	CLIP-seq
MIRT2542181	hsa-miR-3659	CLIP-seq
MIRT2542182	hsa-miR-3688-3p	CLIP-seq
MIRT2542183	hsa-miR-378	CLIP-seq
MIRT2542184	hsa-miR-378b	CLIP-seq
MIRT2542185	hsa-miR-378c	CLIP-seq
MIRT2542186	hsa-miR-378d	CLIP-seq
MIRT2542187	hsa-miR-378e	CLIP-seq
MIRT2542188	hsa-miR-378f	CLIP-seq
MIRT2542189	hsa-miR-378h	CLIP-seq
MIRT2542190	hsa-miR-378i	CLIP-seq
MIRT2542193	hsa-miR-3973	CLIP-seq
MIRT2542194	hsa-miR-3978	CLIP-seq
MIRT2542195	hsa-miR-410	CLIP-seq
MIRT2542196	hsa-miR-422a	CLIP-seq
MIRT2542197	hsa-miR-4272	CLIP-seq
MIRT2542198	hsa-miR-4303	CLIP-seq
MIRT2542199	hsa-miR-4310	CLIP-seq
MIRT2542201	hsa-miR-433	CLIP-seq
MIRT2542204	hsa-miR-4433	CLIP-seq
MIRT2542205	hsa-miR-4438	CLIP-seq
MIRT2542206	hsa-miR-4453	CLIP-seq
MIRT2542207	hsa-miR-4459	CLIP-seq
MIRT2542208	hsa-miR-4496	CLIP-seq
MIRT2542209	hsa-miR-451b	CLIP-seq
MIRT2542210	hsa-miR-4530	CLIP-seq
MIRT2542211	hsa-miR-4538	CLIP-seq
MIRT2542212	hsa-miR-4637	CLIP-seq
MIRT2542214	hsa-miR-4654	CLIP-seq
MIRT2542215	hsa-miR-4658	CLIP-seq
MIRT2542216	hsa-miR-4666-5p	CLIP-seq
MIRT2542217	hsa-miR-4682	CLIP-seq
MIRT2542218	hsa-miR-4691-3p	CLIP-seq
MIRT2542219	hsa-miR-4693-3p	CLIP-seq
MIRT2542220	hsa-miR-4712-3p	CLIP-seq
MIRT2542221	hsa-miR-4729	CLIP-seq
MIRT2542222	hsa-miR-4738-3p	CLIP-seq
MIRT2542223	hsa-miR-4762-3p	CLIP-seq
MIRT2542225	hsa-miR-4768-3p	CLIP-seq
MIRT2542226	hsa-miR-4769-5p	CLIP-seq
MIRT2542227	hsa-miR-4774-5p	CLIP-seq
MIRT2542228	hsa-miR-4795-5p	CLIP-seq
MIRT2542229	hsa-miR-4802-3p	CLIP-seq
MIRT2542231	hsa-miR-487a	CLIP-seq
MIRT2542232	hsa-miR-491-3p	CLIP-seq
MIRT2542235	hsa-miR-512-5p	CLIP-seq
MIRT2542237	hsa-miR-532-3p	CLIP-seq
MIRT2542238	hsa-miR-548ah	CLIP-seq
MIRT2542239	hsa-miR-548t	CLIP-seq
MIRT2542240	hsa-miR-573	CLIP-seq
MIRT2542241	hsa-miR-574-5p	CLIP-seq
MIRT2542242	hsa-miR-582-5p	CLIP-seq
MIRT2542243	hsa-miR-586	CLIP-seq
MIRT2542244	hsa-miR-595	CLIP-seq
MIRT2542245	hsa-miR-624	CLIP-seq
MIRT2542246	hsa-miR-627	CLIP-seq
MIRT2542247	hsa-miR-633	CLIP-seq
MIRT2542248	hsa-miR-635	CLIP-seq
MIRT2542250	hsa-miR-648	CLIP-seq
MIRT2542251	hsa-miR-651	CLIP-seq
MIRT2542252	hsa-miR-660	CLIP-seq
MIRT2542253	hsa-miR-661	CLIP-seq
MIRT2542254	hsa-miR-668	CLIP-seq
MIRT2542255	hsa-miR-766	CLIP-seq
MIRT2542256	hsa-miR-924	CLIP-seq
MIRT2005507	hsa-miR-935	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
MITF	Activation	18983539
TP53	Unknown	15684612

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001818	Process	Negative regulation of cytokine production	IDA	19350579
GO:0005178	Function	Integrin binding	IBA
GO:0005178	Function	Integrin binding	IEA
GO:0005515	Function	Protein binding	IPI	12609765, 26751287
GO:0005768	Component	Endosome	IEA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0007155	Process	Cell adhesion	IBA
GO:0007155	Process	Cell adhesion	IEA
GO:0007165	Process	Signal transduction	IMP	19350579
GO:0007267	Process	Cell-cell signaling	IMP	19350579
GO:0008201	Function	Heparin binding	IDA	19350579
GO:0008201	Function	Heparin binding	IEA
GO:0008285	Process	Negative regulation of cell population proliferation	TAS	7814155
GO:0016020	Component	Membrane	IDA	12609765
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	TAS	7814155
GO:0030335	Process	Positive regulation of cell migration	IDA	20711474
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0031901	Component	Early endosome membrane	IEA
GO:0032720	Process	Negative regulation of tumor necrosis factor production	IEA
GO:0033162	Component	Melanosome membrane	IEA
GO:0034103	Process	Regulation of tissue remodeling	IDA	25010402
GO:0034103	Process	Regulation of tissue remodeling	IEA
GO:0042056	Function	Chemoattractant activity	NAS	20711474
GO:0042130	Process	Negative regulation of T cell proliferation	IDA	19350579
GO:0045545	Function	Syndecan binding	IPI	19350579
GO:0045765	Process	Regulation of angiogenesis	NAS	20711474
GO:0048018	Function	Receptor ligand activity	IMP	19350579
GO:0050868	Process	Negative regulation of T cell activation	IMP	19350579
GO:0050918	Process	Positive chemotaxis	NAS	20711474
GO:0070374	Process	Positive regulation of ERK1 and ERK2 cascade	IEA
GO:0070374	Process	Positive regulation of ERK1 and ERK2 cascade	TAS	22891158
GO:2000134	Process	Negative regulation of G1/S transition of mitotic cell cycle	IDA	19350579

Other IDs

• MIM: 604368
• HGNC: 4462
• e!Ensembl: ENSG00000136235

Protein

• UniProt ID: Q14956
• Protein name: Transmembrane glycoprotein NMB (Hematopoietic growth factor inducible neurokinin-1 type)
• Protein function: Could be a melanogenic enzyme.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00801	PKD	270 → 321	PKD domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Widely expressed, but very low expression, if any, in the brain (PubMed:12609765, PubMed:16609006). Expressed in the epidermis with higher levels in melanocytes compared with keratinocytes and Langerhans cells (at protein level) (PubMe
• Sequence:

  MECLYYFLGFLLLAARLPLDAAKRFHDVLGNERPSAYMREHNQLNGWSSDENDWNEKLYP
  VWKRGDMRWKNSWKGGRVQAVLTSDSPALVGSNITFAVNLIFPRCQKEDANGNIVYEKNC
  RNEAGLSADPYVYNWTAWSEDSDGENGTGQSHHNVFPDGKPFPHHPGWRRWNFIYVFHTL
  GQYFQKLGRCSVRVSVNTANVTLGPQLMEVTVYRRHGRAYVPIAQVKDVYVVTDQIPVFV
  TMFQKNDRNSSDETFLKDLPIMFDVLIHDPSHFLNYSTINYKWSFGDNTGLFVSTNHTVN
  HTYVLNGTFSLNLTVKAAAPGPCPPPPPPPRPSKPTPSLATTLKSYDSNTPGPAGDNPLE
  LSRIPDENCQINRYGHFQATITIVEGILEVNIIQMTDVLMPVPWPESSLIDFVVTCQGSI
  PTEVCTIISDPTCEITQNTVCSPVDVDEMCLLTVRRTFNGSGTYCVNLTLGDDTSLALTS
  TLISVPDRDPASPLRMANSALISVGCLAIFVTVISLLVYKKHKEYNPIENSPGNVVRSKG
  LSVFLNRAKAVFFPGNQEKDPLLKNQEFKGVS

• Sequence length: 572

Pathways

Reactome:

PTK6 promotes HIF1A stabilization

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
Amyloidosis, primary localized cutaneous, 3	Likely pathogenic; Pathogenic	rs758729806, rs777204409, rs140352180, rs770211260, rs763065333, rs1554300664, rs747723062, rs773435101, rs547758286	RCV001782226 RCV003325298 RCV000591352 RCV000594391 RCV000597417 RCV000592008 RCV000594114 RCV000597606 RCV001263469	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Familial cancer of breast	Likely pathogenic	rs371776692	RCV005932761	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
GPNMB-related disorder	Likely pathogenic; Pathogenic	rs758729806, rs371776692	RCV004752049 RCV003412177	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
AMYLOIDOSIS CUTIS DYSCHROMIA	—	Disgenet, Orphanet Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, PANCREATIC DUCTAL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ENDOMETRIOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KIDNEY FAILURE, ACUTE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS, EXPERIMENTAL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER FAILURE, ACUTE	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	-	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARKINSON DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute Kidney Insufficiency	Acute Kidney Insufficiency	CTD_human_DG	23052191		★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	BEFREE	30400781		★☆☆☆☆ Found in Text Mining only
Adrenoleukodystrophy	Adrenoleukodystrophy	Pubtator	35568699	Stimulate	★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	35568699	Stimulate	★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	36504281, 39380021	Associate	★☆☆☆☆ Found in Text Mining only
Amyloidosis	Amyloidosis	BEFREE	29336782		★☆☆☆☆ Found in Text Mining only
Amyloidosis	Amyloidosis	Pubtator	29336782	Associate	★☆☆☆☆ Found in Text Mining only
Amyloidosis cutis dyschromia	Amyloidosis Cutis Dyschromia	BEFREE	29336782		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Amyloidosis cutis dyschromia	Amyloidosis Cutis Dyschromia	ORPHANET_DG	29336782		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Amyloidosis cutis dyschromia	Amyloidosis Cutis Dyschromia	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AMYLOIDOSIS, PRIMARY LOCALIZED CUTANEOUS, 3	Amyloidosis	GENOMICS_ENGLAND_DG	29336782		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
AMYLOIDOSIS, PRIMARY LOCALIZED CUTANEOUS, 3	Amyloidosis	ORPHANET_DG	29336782		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
AMYLOIDOSIS, PRIMARY LOCALIZED CUTANEOUS, 3	Amyloidosis	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	22891158, 25010402, 26140698, 27132081, 27935101, 28856541, 31701227		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic lateral sclerosis	Pubtator	33417599, 35568699	Associate	★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	BEFREE	27132081		★☆☆☆☆ Found in Text Mining only
Anxiety Disorders	Anxiety Disorder	BEFREE	27132081		★☆☆☆☆ Found in Text Mining only
Arthritis Psoriatic	Psoriatic arthritis	Pubtator	26086874	Stimulate	★☆☆☆☆ Found in Text Mining only
Bardet-Biedl Syndrome	Bardet-Biedl Syndrome	BEFREE	11194934		★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	28443476		★☆☆☆☆ Found in Text Mining only
Bone Diseases	Bone Disease	BEFREE	21395506		★☆☆☆☆ Found in Text Mining only
Brain Ischemia	Cerebral Ischemia	BEFREE	25010402		★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain Neoplasms	BEFREE	16609006		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	17845721, 17951401, 20215530, 20711474, 25772243, 30224376, 30914799, 31127873		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	CTD_human_DG	18507500		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	17845721	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Neoplasms	Breast neoplasm	Pubtator	26077887, 30992322, 36061142	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Neoplasms	Breast neoplasm	Pubtator	37067377	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bronchopulmonary Dysplasia	Bronchopulmonary Dysplasia	BEFREE	25054912		★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	17845721, 27334625	Associate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	30484490	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	28443476		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	1563005, 20388507		★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	37095531	Associate	★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	30484490		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervix carcinoma	Cervix carcinoma	BEFREE	30484490		★☆☆☆☆ Found in Text Mining only
Cirrhosis	Cirrhosis	BEFREE	14568261		★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognitive disorder	BEFREE	27539743		★☆☆☆☆ Found in Text Mining only
Colonic Diseases	Colonic disease	Pubtator	30400781	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	CTD_human_DG	18507500, 21278247		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	24204606, 30400781		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	CTD_human_DG	18507500, 21278247		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	19750230, 24204606, 30400781	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital contractural arachnodactyly	Congenital Contractural Arachnodactyly	BEFREE	27593106		★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	31043488		★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic Fibrosis	BEFREE	29703589		★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	20060954, 24635637		★☆☆☆☆ Found in Text Mining only
Dementia, Vascular	Dementia	BEFREE	27539743		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 1	Diabetes mellitus, type 1	Pubtator	32425885	Associate	★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathies	Diabetic neuropathy	Pubtator	32425885	Associate	★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	GWASCAT_DG	28881265		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Esophageal Neoplasms	Esophageal neoplasm	Pubtator	36090016	Associate	★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	36862875	Associate	★☆☆☆☆ Found in Text Mining only
Fulminant hepatitis	Fulminant Hepatitis	BEFREE	15763343		★☆☆☆☆ Found in Text Mining only
Gastrinoma	Gastrinoma	BEFREE	8943970		★☆☆☆☆ Found in Text Mining only
Gaucher Disease	Gaucher disease	Pubtator	10961902, 38610104	Associate	★☆☆☆☆ Found in Text Mining only
Gaucher Disease	Gaucher Disease	BEFREE	28003098, 30149180		★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	BEFREE	31057322		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	16609006		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	37005748	Stimulate	★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	16609006		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	LHGDN	16609006		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	27334625	Associate	★☆☆☆☆ Found in Text Mining only
Glycogen Storage Disease Type II	Glycogen storage disease	Pubtator	39523364	Associate	★☆☆☆☆ Found in Text Mining only
Head and Neck Neoplasms	Head and neck neoplasm	Pubtator	32600105	Associate	★☆☆☆☆ Found in Text Mining only
Heart Failure	Heart failure	Pubtator	31554410	Associate	★☆☆☆☆ Found in Text Mining only
Hemolytic Uremic Syndrome	Hemolytic uremic syndrome	Pubtator	19833906	Stimulate	★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	27539743		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory bowel disease	Pubtator	15452158	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney disease	Pubtator	19833906	Stimulate	★☆☆☆☆ Found in Text Mining only
Kidney Failure, Acute	Kidney Failure	CTD_human_DG	23052191		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kidney Neoplasms	Kidney neoplasm	Pubtator	25594584, 37331486	Associate	★☆☆☆☆ Found in Text Mining only
Lewy Body Disease	Lewy body disease	Pubtator	38610104	Associate	★☆☆☆☆ Found in Text Mining only
liposarcoma	Liposarcoma	BEFREE	28459858		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	14568261		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	BEFREE	14568261		★☆☆☆☆ Found in Text Mining only
Liver Failure, Acute	Liver failure	CTD_human_DG	15763343		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Liver neoplasms	Liver neoplasms	BEFREE	16964280		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	20388507	Associate	★☆☆☆☆ Found in Text Mining only
Lymphangioleiomyomatosis	Lymphangiomyomatosis	BEFREE	26880751		★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	36090016	Stimulate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	37960806	Associate	★☆☆☆☆ Found in Text Mining only
Malignant Glioma	Glioma	BEFREE	16609006		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	17845721, 17951401, 20215530, 20711474, 25772243, 30224376, 30914799, 31127873		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	CTD_human_DG	18507500		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	1563005, 20388507		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	25426614		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	22290289		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	31498430		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	28443476		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	16609006, 17845721, 21395506, 25426614, 26636434, 27515299, 27979841, 28295306, 28443476, 28546082, 30224376, 30992322, 31127873		★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	30484490		★☆☆☆☆ Found in Text Mining only
Mammary Carcinoma, Human	Marfan Syndrome	CTD_human_DG	18507500		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	LHGDN	17951401		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	CTD_human_DG	18507500		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	25772243		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms, Human	Mammary Neoplasms	CTD_human_DG	18507500		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	LHGDN	14696968		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	16247014, 19383330, 25267741, 26077887	Associate	★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	16489096, 19383330, 26387540, 27515299		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	37067377	Stimulate	★☆☆☆☆ Found in Text Mining only
Mental impairment	Mental Depression	BEFREE	27132081		★☆☆☆☆ Found in Text Mining only
Microphthalmos	Microphthalmos	BEFREE	24789918		★☆☆☆☆ Found in Text Mining only
MiT family translocation renal cell carcinoma	Renal Carcinoma	BEFREE	31043488		★☆☆☆☆ Found in Text Mining only
Monoclonal Gammopathy of Undetermined Significance	Monoclonal Gammapathies	BEFREE	28727816		★☆☆☆☆ Found in Text Mining only
Motor neuron atrophy	Motor neuron atrophy	BEFREE	22891158		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple sclerosis	Pubtator	33417599, 35568699	Associate	★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy Duchenne	Duchenne muscular dystrophy	Pubtator	24190443	Associate	★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	28148779		★☆☆☆☆ Found in Text Mining only
Myocarditis	Myocarditis	Pubtator	36226312	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	10961902, 11485826, 14568261, 15528253, 17845721, 17951401, 19383330, 20711474, 22290289, 24589892, 25772243, 26620706, 27979841, 28546082, 29262642, 30605337, 30690710, 30914799, 31127873, 8391296		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	23466651		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	35568699	Associate	★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	25010402, 28856541		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	10545285, 20388507		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	15585758, 20010906, 23879873, 27634552		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	15585758, 18271693, 27634552	Associate	★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	20060954	Associate	★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	BEFREE	29843046, 30768922		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	26305408		★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	25426614		★☆☆☆☆ Found in Text Mining only
Papillary thyroid carcinoma	Papillary thyroid carcinoma	BEFREE	29552294		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	21738488, 27132081, 28391543, 29290481, 30149180, 30880162		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Parkinson Disease	Parkinson disease	GWASCAT_DG	25064009, 28892059		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Parkinson Disease	Parkinson disease	Pubtator	28391543, 29290481, 33523105, 33726823, 34857772, 35981040, 36504281, 36759259, 36982982	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Parkinson Disease	Parkinson disease	Pubtator	28391543, 35981040	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Periodontal Diseases	Periodontal Diseases	BEFREE	30793225		★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Peripheral nervous system disease	Pubtator	36671424	Associate	★☆☆☆☆ Found in Text Mining only
Prolactinoma	Prolactinoma	BEFREE	1488105		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	22290289		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	24589892	Associate	★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	37067377	Stimulate	★☆☆☆☆ Found in Text Mining only
Pulmonary edema of mountaineers	Pulmonary edema	Pubtator	28242600	Associate	★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	31043488		★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	BEFREE	15920699		★☆☆☆☆ Found in Text Mining only
Sarcoma Alveolar Soft Part	Sarcoma	Pubtator	38219952	Associate	★☆☆☆☆ Found in Text Mining only
Scleroderma Systemic	Systemic sclerosis	Pubtator	35280996	Associate	★☆☆☆☆ Found in Text Mining only
Small cell carcinoma of lung	Lung carcinoma	BEFREE	8959679		★☆☆☆☆ Found in Text Mining only
Small Cell Lung Carcinoma	Small cell lung carcinoma	Pubtator	1655761	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	26636434		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	26636434, 28295306, 35365934, 36061142, 37960806	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	28295306		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	31498430		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	20507635, 26077887, 38631604	Associate	★☆☆☆☆ Found in Text Mining only
SVEINSSON CHORIORETINAL ATROPHY	Sveinsson Chorioretinal Atrophy	BEFREE	30400781		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	28400538		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	34108545	Stimulate	★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	28443476	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	30484490	Stimulate	★☆☆☆☆ Found in Text Mining only
Vascular Calcification	Vascular calcification	Pubtator	19833906	Associate	★☆☆☆☆ Found in Text Mining only
Vitiligo	Vitiligo	Pubtator	32188902, 34639184	Inhibit	★☆☆☆☆ Found in Text Mining only