NDRG1 (N-myc downstream regulated 1)

Gene

• Entrez ID: 10397
• Gene name: N-myc downstream regulated 1
• Gene symbol: NDRG1
• Synonyms (NCBI Gene): CAP43, CMT4D, DRG-1, DRG1, GC4, HMSNL, NDR1, NMSL, PROXY1, RIT42, RTP, TARG1, TDD5
• Chromosome: 8
• Chromosome location: 8q24.22
• Summary: This gene is a member of the N-myc downregulated gene family which belongs to the alpha/beta hydrolase superfamily. The protein encoded by this gene is a cytoplasmic protein involved in stress responses, hormone responses, cell growth, and differentiation

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs11575976	C>G,T	Pathogenic, uncertain-significance	Splice acceptor variant
rs119483085	G>A	Pathogenic	Upstream transcript variant, genic upstream transcript variant, stop gained, coding sequence variant
rs143549909	G>A,T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, missense variant, coding sequence variant
rs145871479	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	5 prime UTR variant, intron variant, coding sequence variant, genic upstream transcript variant, missense variant
rs201959970	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, coding sequence variant
rs879254290	->G	Pathogenic	Frameshift variant, coding sequence variant
rs1060503092	C>T	Pathogenic	Splice donor variant, genic upstream transcript variant, intron variant
rs1586446057	C>T	Likely-pathogenic	Splice donor variant, genic upstream transcript variant
rs1588216753	C>A	Likely-pathogenic	Splice acceptor variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT018414	hsa-miR-335-5p	Microarray	18185580
MIRT025409	hsa-miR-34a-5p	Proteomics	21566225
MIRT025409	hsa-miR-34a-5p	Proteomics	21566225
MIRT025409	hsa-miR-34a-5p	Proteomics	21566225
MIRT052351	hsa-let-7b-5p	CLASH	23622248
MIRT041050	hsa-miR-505-3p	CLASH	23622248
MIRT038043	hsa-miR-423-5p	CLASH	23622248
MIRT438101	hsa-miR-182-5p	Luciferase reporter assay	23874837
MIRT438101	hsa-miR-182-5p	Luciferase reporter assay	23874837
MIRT224490	hsa-miR-4715-5p	HITS-CLIP	23824327
MIRT224489	hsa-miR-4259	HITS-CLIP	23824327
MIRT675156	hsa-miR-1228-3p	HITS-CLIP	23824327
MIRT675155	hsa-miR-342-3p	HITS-CLIP	23824327
MIRT675154	hsa-miR-564	HITS-CLIP	23824327
MIRT675153	hsa-miR-4743-5p	HITS-CLIP	23824327
MIRT675152	hsa-miR-4284	HITS-CLIP	23824327
MIRT675151	hsa-miR-24-3p	HITS-CLIP	23824327
MIRT675150	hsa-miR-7977	HITS-CLIP	23824327
MIRT544738	hsa-miR-548n	PAR-CLIP	21572407
MIRT544737	hsa-miR-548az-5p	PAR-CLIP	21572407
MIRT544736	hsa-miR-548t-5p	PAR-CLIP	21572407
MIRT544735	hsa-miR-548at-5p	PAR-CLIP	21572407
MIRT544734	hsa-miR-1265	PAR-CLIP	21572407
MIRT544733	hsa-miR-512-3p	PAR-CLIP	21572407
MIRT544732	hsa-miR-148a-3p	PAR-CLIP	21572407
MIRT544731	hsa-miR-148b-3p	PAR-CLIP	21572407
MIRT544730	hsa-miR-152-3p	PAR-CLIP	21572407
MIRT240124	hsa-miR-548aj-5p	PAR-CLIP	21572407
MIRT240120	hsa-miR-548f-5p	PAR-CLIP	21572407
MIRT240121	hsa-miR-548g-5p	PAR-CLIP	21572407
MIRT240123	hsa-miR-548x-5p	PAR-CLIP	21572407
MIRT544729	hsa-miR-1468-3p	PAR-CLIP	21572407
MIRT544728	hsa-miR-7160-5p	PAR-CLIP	21572407
MIRT544727	hsa-miR-3135b	PAR-CLIP	21572407
MIRT544726	hsa-miR-1287-5p	PAR-CLIP	21572407
MIRT544725	hsa-miR-4533	PAR-CLIP	21572407
MIRT544724	hsa-miR-3202	PAR-CLIP	21572407
MIRT544723	hsa-miR-4764-5p	PAR-CLIP	21572407
MIRT544722	hsa-miR-19a-3p	PAR-CLIP	21572407
MIRT544721	hsa-miR-19b-3p	PAR-CLIP	21572407
MIRT544720	hsa-miR-548aw	PAR-CLIP	21572407
MIRT442085	hsa-miR-548a-3p	PAR-CLIP	22100165
MIRT442084	hsa-miR-548ar-3p	PAR-CLIP	22100165
MIRT442083	hsa-miR-548az-3p	PAR-CLIP	22100165
MIRT442082	hsa-miR-548e-3p	PAR-CLIP	22100165
MIRT442081	hsa-miR-548f-3p	PAR-CLIP	22100165
MIRT442080	hsa-miR-1243	PAR-CLIP	22100165
MIRT442079	hsa-miR-4705	PAR-CLIP	22100165
MIRT442078	hsa-miR-378j	PAR-CLIP	22100165
MIRT442076	hsa-miR-6839-5p	PAR-CLIP	22100165
MIRT442077	hsa-miR-570-3p	PAR-CLIP	22100165
MIRT442075	hsa-miR-3167	PAR-CLIP	22100165
MIRT442074	hsa-miR-876-5p	PAR-CLIP	22100165
MIRT442073	hsa-miR-1290	PAR-CLIP	22100165
MIRT442072	hsa-miR-4503	PAR-CLIP	22100165
MIRT224490	hsa-miR-4715-5p	HITS-CLIP	23824327
MIRT224489	hsa-miR-4259	HITS-CLIP	23824327
MIRT675156	hsa-miR-1228-3p	HITS-CLIP	23824327
MIRT675155	hsa-miR-342-3p	HITS-CLIP	23824327
MIRT675154	hsa-miR-564	HITS-CLIP	23824327
MIRT675153	hsa-miR-4743-5p	HITS-CLIP	23824327
MIRT675152	hsa-miR-4284	HITS-CLIP	23824327
MIRT675151	hsa-miR-24-3p	HITS-CLIP	23824327
MIRT675150	hsa-miR-7977	HITS-CLIP	23824327
MIRT544738	hsa-miR-548n	PAR-CLIP	21572407
MIRT544737	hsa-miR-548az-5p	PAR-CLIP	21572407
MIRT544736	hsa-miR-548t-5p	PAR-CLIP	21572407
MIRT544735	hsa-miR-548at-5p	PAR-CLIP	21572407
MIRT544734	hsa-miR-1265	PAR-CLIP	21572407
MIRT544733	hsa-miR-512-3p	PAR-CLIP	21572407
MIRT544732	hsa-miR-148a-3p	PAR-CLIP	21572407
MIRT544731	hsa-miR-148b-3p	PAR-CLIP	21572407
MIRT544730	hsa-miR-152-3p	PAR-CLIP	21572407
MIRT240124	hsa-miR-548aj-5p	PAR-CLIP	21572407
MIRT240120	hsa-miR-548f-5p	PAR-CLIP	21572407
MIRT240121	hsa-miR-548g-5p	PAR-CLIP	21572407
MIRT240123	hsa-miR-548x-5p	PAR-CLIP	21572407
MIRT544729	hsa-miR-1468-3p	PAR-CLIP	21572407
MIRT544728	hsa-miR-7160-5p	PAR-CLIP	21572407
MIRT544727	hsa-miR-3135b	PAR-CLIP	21572407
MIRT544726	hsa-miR-1287-5p	PAR-CLIP	21572407
MIRT544725	hsa-miR-4533	PAR-CLIP	21572407
MIRT544724	hsa-miR-3202	PAR-CLIP	21572407
MIRT544723	hsa-miR-4764-5p	PAR-CLIP	21572407
MIRT544722	hsa-miR-19a-3p	PAR-CLIP	21572407
MIRT544721	hsa-miR-19b-3p	PAR-CLIP	21572407
MIRT544720	hsa-miR-548aw	PAR-CLIP	21572407
MIRT442085	hsa-miR-548a-3p	PAR-CLIP	22100165
MIRT442084	hsa-miR-548ar-3p	PAR-CLIP	22100165
MIRT442083	hsa-miR-548az-3p	PAR-CLIP	22100165
MIRT442082	hsa-miR-548e-3p	PAR-CLIP	22100165
MIRT442081	hsa-miR-548f-3p	PAR-CLIP	22100165
MIRT442080	hsa-miR-1243	PAR-CLIP	22100165
MIRT442079	hsa-miR-4705	PAR-CLIP	22100165
MIRT442078	hsa-miR-378j	PAR-CLIP	22100165
MIRT442076	hsa-miR-6839-5p	PAR-CLIP	22100165
MIRT442077	hsa-miR-570-3p	PAR-CLIP	22100165
MIRT442075	hsa-miR-3167	PAR-CLIP	22100165
MIRT442074	hsa-miR-876-5p	PAR-CLIP	22100165
MIRT442073	hsa-miR-1290	PAR-CLIP	22100165
MIRT442072	hsa-miR-4503	PAR-CLIP	22100165
MIRT1178161	hsa-miR-105	CLIP-seq
MIRT1178162	hsa-miR-1197	CLIP-seq
MIRT1178163	hsa-miR-1251	CLIP-seq
MIRT1178164	hsa-miR-193a-3p	CLIP-seq
MIRT1178165	hsa-miR-193b	CLIP-seq
MIRT1178166	hsa-miR-3914	CLIP-seq
MIRT1178167	hsa-miR-4436b-3p	CLIP-seq
MIRT1178168	hsa-miR-4632	CLIP-seq
MIRT1178169	hsa-miR-4682	CLIP-seq
MIRT1178170	hsa-miR-4685-5p	CLIP-seq
MIRT1178171	hsa-miR-4690-3p	CLIP-seq
MIRT1178172	hsa-miR-4779	CLIP-seq
MIRT1178173	hsa-miR-490-3p	CLIP-seq
MIRT1178174	hsa-miR-885-3p	CLIP-seq
MIRT1178175	hsa-miR-2052	CLIP-seq
MIRT1178176	hsa-miR-3127-3p	CLIP-seq
MIRT1178177	hsa-miR-3152-5p	CLIP-seq
MIRT1178178	hsa-miR-3667-3p	CLIP-seq
MIRT1178179	hsa-miR-3679-3p	CLIP-seq
MIRT1178180	hsa-miR-4640-3p	CLIP-seq
MIRT1178181	hsa-miR-4774-3p	CLIP-seq
MIRT1178182	hsa-miR-556-3p	CLIP-seq
MIRT1178183	hsa-miR-668	CLIP-seq
MIRT1551645	hsa-miR-1321	CLIP-seq
MIRT1551646	hsa-miR-3162-5p	CLIP-seq
MIRT1551647	hsa-miR-4739	CLIP-seq
MIRT1551648	hsa-miR-4756-5p	CLIP-seq
MIRT1551649	hsa-miR-583	CLIP-seq
MIRT1178162	hsa-miR-1197	CLIP-seq
MIRT1178167	hsa-miR-4436b-3p	CLIP-seq
MIRT1178170	hsa-miR-4685-5p	CLIP-seq
MIRT1178162	hsa-miR-1197	CLIP-seq
MIRT1178167	hsa-miR-4436b-3p	CLIP-seq
MIRT1178170	hsa-miR-4685-5p	CLIP-seq
MIRT2051538	hsa-miR-1231	CLIP-seq
MIRT2051539	hsa-miR-1282	CLIP-seq
MIRT2051540	hsa-miR-4288	CLIP-seq
MIRT2051541	hsa-miR-628-5p	CLIP-seq
MIRT2051542	hsa-miR-632	CLIP-seq
MIRT2280611	hsa-miR-1237	CLIP-seq
MIRT2280612	hsa-miR-3176	CLIP-seq
MIRT2280613	hsa-miR-3922-3p	CLIP-seq
MIRT2280614	hsa-miR-4256	CLIP-seq
MIRT2391447	hsa-miR-183	CLIP-seq
MIRT2391448	hsa-miR-199a-3p	CLIP-seq
MIRT2391449	hsa-miR-199b-3p	CLIP-seq
MIRT2391450	hsa-miR-2682	CLIP-seq
MIRT2391451	hsa-miR-3129-5p	CLIP-seq
MIRT2391452	hsa-miR-3714	CLIP-seq
MIRT2391453	hsa-miR-449c	CLIP-seq
MIRT2391454	hsa-miR-4700-3p	CLIP-seq
MIRT2391455	hsa-miR-4736	CLIP-seq
MIRT2391456	hsa-miR-548k	CLIP-seq
MIRT1551649	hsa-miR-583	CLIP-seq
MIRT2391457	hsa-miR-624	CLIP-seq
MIRT2454974	hsa-miR-3125	CLIP-seq
MIRT2454975	hsa-miR-3916	CLIP-seq
MIRT2454976	hsa-miR-4722-5p	CLIP-seq
MIRT2454977	hsa-miR-4768-3p	CLIP-seq
MIRT1551649	hsa-miR-583	CLIP-seq
MIRT2391448	hsa-miR-199a-3p	CLIP-seq
MIRT2391449	hsa-miR-199b-3p	CLIP-seq
MIRT2391450	hsa-miR-2682	CLIP-seq
MIRT2391451	hsa-miR-3129-5p	CLIP-seq
MIRT2579076	hsa-miR-337-3p	CLIP-seq
MIRT2579077	hsa-miR-338-5p	CLIP-seq
MIRT2579078	hsa-miR-3646	CLIP-seq
MIRT2579079	hsa-miR-3662	CLIP-seq
MIRT2391452	hsa-miR-3714	CLIP-seq
MIRT1178166	hsa-miR-3914	CLIP-seq
MIRT2280614	hsa-miR-4256	CLIP-seq
MIRT2579080	hsa-miR-4272	CLIP-seq
MIRT2391453	hsa-miR-449c	CLIP-seq
MIRT2579081	hsa-miR-4639-3p	CLIP-seq
MIRT2579082	hsa-miR-4668-3p	CLIP-seq
MIRT2579083	hsa-miR-4698	CLIP-seq
MIRT2391454	hsa-miR-4700-3p	CLIP-seq
MIRT2579084	hsa-miR-4712-3p	CLIP-seq
MIRT2579085	hsa-miR-4714-5p	CLIP-seq
MIRT2579086	hsa-miR-4792	CLIP-seq
MIRT1178173	hsa-miR-490-3p	CLIP-seq
MIRT2579087	hsa-miR-539	CLIP-seq
MIRT2391456	hsa-miR-548k	CLIP-seq
MIRT2391457	hsa-miR-624	CLIP-seq
MIRT2579088	hsa-miR-873	CLIP-seq
MIRT1178174	hsa-miR-885-3p	CLIP-seq
MIRT1178164	hsa-miR-193a-3p	CLIP-seq
MIRT1178165	hsa-miR-193b	CLIP-seq
MIRT2391448	hsa-miR-199a-3p	CLIP-seq
MIRT2391449	hsa-miR-199b-3p	CLIP-seq
MIRT2391450	hsa-miR-2682	CLIP-seq
MIRT2391451	hsa-miR-3129-5p	CLIP-seq
MIRT2579076	hsa-miR-337-3p	CLIP-seq
MIRT2579077	hsa-miR-338-5p	CLIP-seq
MIRT2579078	hsa-miR-3646	CLIP-seq
MIRT2579079	hsa-miR-3662	CLIP-seq
MIRT2391452	hsa-miR-3714	CLIP-seq
MIRT1178166	hsa-miR-3914	CLIP-seq
MIRT2280614	hsa-miR-4256	CLIP-seq
MIRT2579080	hsa-miR-4272	CLIP-seq
MIRT2391453	hsa-miR-449c	CLIP-seq
MIRT1178168	hsa-miR-4632	CLIP-seq
MIRT2579081	hsa-miR-4639-3p	CLIP-seq
MIRT2579082	hsa-miR-4668-3p	CLIP-seq
MIRT2579083	hsa-miR-4698	CLIP-seq
MIRT2391454	hsa-miR-4700-3p	CLIP-seq
MIRT2579084	hsa-miR-4712-3p	CLIP-seq
MIRT2579085	hsa-miR-4714-5p	CLIP-seq
MIRT2579086	hsa-miR-4792	CLIP-seq
MIRT1178173	hsa-miR-490-3p	CLIP-seq
MIRT2579087	hsa-miR-539	CLIP-seq
MIRT2391456	hsa-miR-548k	CLIP-seq
MIRT2391457	hsa-miR-624	CLIP-seq
MIRT2579088	hsa-miR-873	CLIP-seq
MIRT1178174	hsa-miR-885-3p	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
AR	Unknown	17075604
ETS1	Repression	18381358
FOXD3	Activation	24269992
MYC	Repression	11936845
MYC	Unknown	21976667
MYCN	Activation	19322780
MYCN	Repression	11936845
MYCN	Unknown	14734473;23554972
SIRT1	Unknown	16314423

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	15607035, 17220478, 17786215, 25416956, 32814053, 35271311
GO:0005634	Component	Nucleus	IDA	9766676
GO:0005634	Component	Nucleus	IEA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IDA	9766676
GO:0005737	Component	Cytoplasm	IEA
GO:0005813	Component	Centrosome	IDA	15247272
GO:0005813	Component	Centrosome	IEA
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005856	Component	Cytoskeleton	IEA
GO:0005874	Component	Microtubule	IDA	15247272
GO:0005874	Component	Microtubule	IEA
GO:0005886	Component	Plasma membrane	IDA	12432451
GO:0005886	Component	Plasma membrane	IEA
GO:0005912	Component	Adherens junction	IDA	12432451
GO:0007165	Process	Signal transduction	IBA
GO:0008017	Function	Microtubule binding	IDA	15247272
GO:0008285	Process	Negative regulation of cell population proliferation	IEA
GO:0010038	Process	Response to metal ion	TAS	9605764
GO:0015630	Component	Microtubule cytoskeleton	IDA
GO:0016020	Component	Membrane	IEA
GO:0016151	Function	Nickel cation binding	EXP	36139110
GO:0016151	Function	Nickel cation binding	IPI	36139110
GO:0030330	Process	DNA damage response, signal transduction by p53 class mediator	IEP	9766676
GO:0031267	Function	Small GTPase binding	IDA	17786215
GO:0032287	Process	Peripheral nervous system myelin maintenance	IEA
GO:0043015	Function	Gamma-tubulin binding	IDA	15247272
GO:0045296	Function	Cadherin binding	HDA	25468996
GO:0045296	Function	Cadherin binding	IDA	17786215
GO:0045576	Process	Mast cell activation	IEA
GO:0048471	Component	Perinuclear region of cytoplasm	IDA	17786215
GO:0055038	Component	Recycling endosome membrane	IDA	17786215
GO:0070062	Component	Extracellular exosome	HDA	19056867
GO:0071456	Process	Cellular response to hypoxia	IEP	20810912

Other IDs

• MIM: 605262
• HGNC: 7679
• e!Ensembl: ENSG00000104419

Protein

• UniProt ID: Q92597
• Protein name: Protein NDRG1 (Differentiation-related gene 1 protein) (DRG-1) (N-myc downstream-regulated gene 1 protein) (Nickel-specific induction protein Cap43) (Reducing agents and tunicamycin-responsive protein) (RTP) (Rit42)
• Protein function: Stress-responsive protein involved in hormone responses, cell growth, and differentiation. Acts as a tumor suppressor in many cell types. Necessary but not sufficient for p53/TP53-mediated caspase activation and apoptosis. Has a role in cell tra
• PDB: 6ZMM
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF03096	Ndr	34 → 316	Ndr family	Domain

• Tissue specificity: TISSUE SPECIFICITY: Ubiquitous; expressed most prominently in placental membranes and prostate, kidney, small intestine, and ovary tissues. Also expressed in heart, brain, skeletal muscle, lung, liver and pancreas. Low levels in peripheral blood leukocyte
• Sequence:

  MSREMQDVDLAEVKPLVEKGETITGLLQEFDVQEQDIETLHGSVHVTLCGTPKGNRPVIL
  TYHDIGMNHKTCYNPLFNYEDMQEITQHFAVCHVDAPGQQDGAASFPAGYMYPSMDQLAE
  MLPGVLQQFGLKSIIGMGTGAGAYILTRFALNNPEMVEGLVLINVNPCAEGWMDWAASKI
  SGWTQALPDMVVSHLFGKEEMQSNVEVVHTYRQHIVNDMNPGNLHLFINAYNSRRDLEIE
  RPMPGTHTVTLQCPALLVVGDSSPAVDAVVECNSKLDPTKTTLLKMADCGGLPQISQPAK
  LAEAFKYFVQGMGYMPSASMTRLMRSRTASGSSVTSLDGTRSRSHTSEGTRSRSHTSEGT
  RSRSHTSEGAHLDITPNSGAAGNSAGPKSMEVSC

• Sequence length: 394

Pathways

Reactome:

TP53 regulates transcription of several additional cell death genes whose specific roles in p53-dependent apoptosis remain uncertain

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
Charcot-Marie-Tooth disease	Likely pathogenic; Pathogenic	rs879254290	RCV001173032	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Charcot-Marie-Tooth disease type 4	Likely pathogenic; Pathogenic	rs2130785568, rs1586451553, rs1060503092, rs2130727371, rs1320417829, rs2130719686, rs112360093, rs1170222257, rs1855844502, rs2538025012, rs119483085, rs1405633183, rs2538018196, rs2538050254, rs2538131347, rs2538050102, rs2538059618, rs2538050013, rs2538050109, rs1586446057, rs1855957969, rs1586407193, rs758718584, rs1856488064	RCV001376869 RCV001386600 RCV001883545 RCV001946854 RCV002050614 RCV001949435 RCV002022983 RCV003098581 RCV003104548 RCV002608919 RCV002647147 RCV000469692 RCV002711355 RCV003049919 RCV003583836 RCV003745767 RCV003744143 RCV003744233 RCV003743302 RCV003864118 RCV000468626 RCV000808279 RCV001048631 RCV001065004 RCV001040768 RCV001214054	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Charcot-Marie-Tooth disease type 4D	Likely pathogenic; Pathogenic	rs199928197, rs2130719557, rs2130727581, rs2538056425, rs119483085, rs2538069534, rs879254290, rs2538042150, rs1060503092, rs1588216753	RCV001353163 RCV001837547 RCV001784718 RCV002283960 RCV000005427 RCV003135341 RCV001782735 RCV004526333 RCV001782955 RCV000985080	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Ovarian serous cystadenocarcinoma	Likely pathogenic	rs2538056425	RCV005930267	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ASTROCYTOMA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, NON-SMALL-CELL LUNG	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, PANCREATIC DUCTAL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, RENAL CELL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 4D	—	HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4D	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEJERINE-SOTTAS DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOBLASTOMA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEREDITARY MOTOR AND SENSORY NEUROPATHIES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPES I-IV	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTROPHIC NEUROPATHY OF INFANCY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KIDNEY NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS, EXPERIMENTAL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Likely benign; Conflicting classifications of pathogenicity; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Uncertain significance	ClinVar CTD	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
MOUTH NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NDRG1-related disorder	Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUROPATHY, HEREDITARY MOTOR AND SENSORY, LOM TYPE	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OROPHARYNGEAL NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERONEAL MUSCULAR ATROPHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POST-TRAUMATIC STRESS DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATIC NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ROUSSY-LEVY SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SMALL CELL LUNG CARCINOMA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SQUAMOUS CELL CARCINOMA OF HEAD AND NECK	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute Promyelocytic Leukemia	Promyelocytic Leukemia	BEFREE	19775754		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	LHGDN	16778198		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	22481237, 29431240		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	23549264, 29431240		★☆☆☆☆ Found in Text Mining only
Adenoma of large intestine	Colorectal adenoma	BEFREE	14966915		★☆☆☆☆ Found in Text Mining only
Anaplastic astrocytoma	Anaplastic Astrocytoma	CTD_human_DG	15341671		★☆☆☆☆ Found in Text Mining only
Androgen-Insensitivity Syndrome	Androgen-Insensitivity Syndrome	BEFREE	29431240		★☆☆☆☆ Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	28350132		★☆☆☆☆ Found in Text Mining only
Aortic Valve Insufficiency	Aortic Valve Insufficiency	BEFREE	23130941		★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	CTD_human_DG	15341671		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Astrocytoma	Astrocytoma	Pubtator	33709284	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bladder Neoplasm	Bladder Neoplasm	BEFREE	18288642, 30914736		★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain Neoplasms	LHGDN	19082468		★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain neoplasms	Pubtator	40530439	Associate	★☆☆☆☆ Found in Text Mining only
Breast adenocarcinoma	Breast Adenocarcinoma	BEFREE	25335733		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	15184886, 15520163, 16707596, 18224398, 18653908, 23899187, 25732125, 26419593, 26852918, 27654269, 27711123, 29535820, 29898756, 31443698		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	CTD_human_DG	15341671		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	21909787	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Neoplasms	Breast neoplasm	Pubtator	23899187, 25732125, 26852918, 30337371, 30497328, 31443698, 35508987, 35859293, 36127332, 36307826, 37338518, 37600707, 37854018, 39770056, 40530439	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Neoplasms	Breast neoplasm	Pubtator	31253870	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cancer of Digestive System	Gastric Cancer	BEFREE	30313035		★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	14966915	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	18377423, 18653908, 21909787, 22678098, 26245647	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	21775055		★☆☆☆☆ Found in Text Mining only
Carcinoma Endometrioid	Endometrioid carcinoma	Pubtator	18653908, 39603644	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	17170744	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	19682504, 24302615, 25335733, 26883192, 27831650, 29795057, 33726698, 34355586, 34745496, 37517087, 38013127, 38097352, 40465781	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Merkel Cell	Merkel cell carcinoma	Pubtator	31694959	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	30914736		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	22481237, 22722710, 23526365, 28456659, 29768183, 30443171		★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	37298315	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	40234880	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	24299561	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Basal Cell	Carcinoma	BEFREE	25428551		★☆☆☆☆ Found in Text Mining only
Carcinoma, Endometrioid	Endometrioid cancer	BEFREE	18653908		★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	23524894, 24626771		★☆☆☆☆ Found in Text Mining only
Carcinoma, Pancreatic Ductal	Pancreatic Ductal Carcinoma	CTD_human_DG	16778198		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CATARACT, ANTERIOR POLAR	Cataract	BEFREE	25227214		★☆☆☆☆ Found in Text Mining only
Cerebral Astrocytoma	Astrocytoma	CTD_human_DG	15341671		★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	18217980, 31242951		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervix carcinoma	Cervix carcinoma	BEFREE	18217980, 31242951		★☆☆☆☆ Found in Text Mining only
Charcot-Marie-Tooth Disease	Charcot-Marie-Tooth Disease	BEFREE	12872253, 17142040, 22978647, 24136616, 29724652		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Charcot-Marie-Tooth Disease	Charcot-Marie-Tooth Disease	LHGDN	12872253		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Charcot-Marie-Tooth disease type 4	Charcot-Marie-Tooth Disease	CLINVAR_DG	12872253, 23996628		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Charcot-Marie-Tooth disease type 4D	Charcot-Marie-Tooth Disease	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4D	Charcot-Marie-Tooth Disease	ORPHANET_DG	10831399		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4D	Charcot-Marie-Tooth Disease	GENOMICS_ENGLAND_DG	10831399, 28776325		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4D	Charcot-Marie-Tooth Disease	BEFREE	15082788, 17142040, 23813961, 24028195, 27982524, 28776325, 29724652		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4D	Charcot-Marie-Tooth Disease	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4D	Charcot-Marie-Tooth Disease	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Charcot-Marie-Tooth Disease, Type Ia (disorder)	Charcot-Marie-Tooth disease	BEFREE	31372974		★☆☆☆☆ Found in Text Mining only
Childhood Cerebral Astrocytoma	Astrocytoma	CTD_human_DG	15341671		★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	Pubtator	39199357	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Choreoathetosis Hypothyroidism And Neonatal Respiratory Distress	Choreoathetosis	Pubtator	12429530	Stimulate	★☆☆☆☆ Found in Text Mining only
Chromophobe Renal Cell Carcinoma	Chromophobe Carcinoma	CTD_human_DG	15108329		★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	BEFREE	28216640		★☆☆☆☆ Found in Text Mining only
Colitis Ulcerative	Ulcerative colitis	Pubtator	36445533	Associate	★☆☆☆☆ Found in Text Mining only
Collecting Duct Carcinoma of the Kidney	Renal Carcinoma	CTD_human_DG	15108329		★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	10676663, 15184886, 15520163, 17178897, 19259744, 26895766, 27338835, 30340826		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic Neoplasms	LHGDN	12432451		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	14966915, 17569115, 19259744, 23874544, 27338835, 28346422, 28537875, 29137287, 30033230, 30313035, 30407715, 31831018		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	14966915, 22187533, 23973486, 26895766, 32564470, 34965023, 36862005	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	LHGDN	15867226, 17569115		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	17569115	Stimulate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	23874544	Inhibit	★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	11448934		★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	CTD_human_DG	15108329		★☆☆☆☆ Found in Text Mining only
Craniosynostosis	Craniosynostosis	BEFREE	28191699, 30925220		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn disease	Pubtator	26636514	Associate	★☆☆☆☆ Found in Text Mining only
Cutaneous Melanoma	Melanoma	BEFREE	31594284		★☆☆☆☆ Found in Text Mining only
Demyelinating Diseases	Demyelinating Diseases	BEFREE	15082788		★☆☆☆☆ Found in Text Mining only
Demyelinating Diseases	Demyelinating diseases	Pubtator	28981455, 36499320	Associate	★☆☆☆☆ Found in Text Mining only
Diffuse Astrocytoma	Astrocytoma	CTD_human_DG	15341671		★☆☆☆☆ Found in Text Mining only
Distal amyotrophy	Distal amyotrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	18377423, 22678098, 31201812		★☆☆☆☆ Found in Text Mining only
Endometrial Hyperplasia	Endometrial hyperplasia	Pubtator	18377423	Stimulate	★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial Neoplasms	LHGDN	18377423		★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	18377423, 22678098	Associate	★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	BEFREE	29283328		★☆☆☆☆ Found in Text Mining only
Esophageal carcinoma	Esophageal Carcinoma	BEFREE	17069588, 19414333, 27414086		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophagus Neoplasm	BEFREE	19414333, 27414086		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophageal neoplasm	Pubtator	19414333, 25232961	Associate	★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	32106831	Associate	★☆☆☆☆ Found in Text Mining only
Familial lichen amyloidosis	Lichen amyloidosis	BEFREE	29236331		★☆☆☆☆ Found in Text Mining only
Fibrillary Astrocytoma	Fibrillary Astrocytoma	CTD_human_DG	15341671		★☆☆☆☆ Found in Text Mining only
Follicular adenoma	Adenoma	BEFREE	20835551		★☆☆☆☆ Found in Text Mining only
Gallbladder Carcinoma	Gallbladder cancer	BEFREE	30313035		★☆☆☆☆ Found in Text Mining only
Gemistocytic astrocytoma	Gemistocytic Astrocytoma	CTD_human_DG	15341671		★☆☆☆☆ Found in Text Mining only
Giant Cell Glioblastoma	Giant Cell Glioblastoma	CTD_human_DG	15341671		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	CTD_human_DG	15341671		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioblastoma	Glioblastoma	BEFREE	18636206, 28498432, 30538287, 31723002		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioblastoma	Glioblastoma	Pubtator	30538287, 35813230	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioblastoma Multiforme	Glioblastoma	CTD_human_DG	15341671		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	18636206, 28498432, 30538287, 31723002		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	19337694, 25777142, 26297987, 27698340, 31723002		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	24395351, 27698340, 33709284, 34913078, 35813230	Associate	★☆☆☆☆ Found in Text Mining only
Grade I Astrocytoma	Grade I Astrocytoma	CTD_human_DG	15341671		★☆☆☆☆ Found in Text Mining only
Hemangioblastoma	Hemangioblastoma	CTD_human_DG	15341671		★☆☆☆☆ Found in Text Mining only
Hemangioma	Hemangioma	BEFREE	29569762		★☆☆☆☆ Found in Text Mining only
Hepatitis C	Hepatitis c	Pubtator	29118118	Inhibit	★☆☆☆☆ Found in Text Mining only
Hereditary hemochromatosis	Hereditary Hemochromatosis	BEFREE	19177570		★☆☆☆☆ Found in Text Mining only
Hereditary Motor and Sensory Neuropathies	Hereditary motor and sensory neuropathy	BEFREE	12872253, 15082788, 16920733, 22978647, 28003645		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary Sensory and Motor Neuropathy	Hereditary sensory and motor neuropathy	Pubtator	10831399, 24136616	Associate	★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	12429530, 15341671, 16314423, 16832411, 21976667, 22116304, 23549264, 26852918, 29303911, 36127332	Stimulate	★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	18381358, 18653908, 26028238, 36140669, 36807042	Associate	★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	30497328	Inhibit	★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	BEFREE	17178897		★☆☆☆☆ Found in Text Mining only
Infantile hemangioma	Hemangioma	BEFREE	29569762		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	26636514		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory bowel disease	Pubtator	26636514	Associate	★☆☆☆☆ Found in Text Mining only
Intracranial Astrocytoma	Intracranial Astrocytoma	CTD_human_DG	15341671		★☆☆☆☆ Found in Text Mining only
Juvenile Pilocytic Astrocytoma	Astrocytoma	CTD_human_DG	15341671		★☆☆☆☆ Found in Text Mining only
Kaposi Sarcoma	Kaposi Sarcoma	BEFREE	30811506		★☆☆☆☆ Found in Text Mining only
Kidney Neoplasm	Kidney Neoplasm	LHGDN	12767066		★☆☆☆☆ Found in Text Mining only
Kidney Neoplasm	Kidney Neoplasm	CTD_human_DG	15341671		★☆☆☆☆ Found in Text Mining only
Kidney Neoplasms	Kidney neoplasm	Pubtator	29991691	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	19775754		★☆☆☆☆ Found in Text Mining only
Lip and Oral Cavity Carcinoma	Lip and Oral Cavity Carcinoma	BEFREE	15645429		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	17170744, 17316623, 18207320, 20573444, 21763068, 21775055, 24302615, 25335733, 26359353, 26419593, 28521460, 28701735, 29248714, 30128866, 30922920		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	LHGDN	19020710		★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	CTD_human_DG	15341671		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung Neoplasms	Lung neoplasms	Pubtator	24299561, 30443171	Associate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	23899187, 27154576	Associate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	23973486, 30914736, 37793886, 39603644	Stimulate	★☆☆☆☆ Found in Text Mining only
Malformations of Cortical Development	Cortical development malformation	Pubtator	28222113	Stimulate	★☆☆☆☆ Found in Text Mining only
Malignant Glioma	Glioma	BEFREE	27698340		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	15184886, 15520163, 16707596, 16920733, 18224398, 18653908, 23899187, 25732125, 26419593, 26852918, 27654269, 27711123, 29535820, 29898756, 31443698		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	CTD_human_DG	15341671		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of endometrium	Endometrial Cancer	BEFREE	22678098, 31201812		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of esophagus	Esophagus Neoplasm	BEFREE	19414333, 27414086		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of gallbladder	Gallbladder cancer	BEFREE	30313035		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of kidney	Kidney Cancer	BEFREE	12046693, 12429530, 12767066		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of kidney	Kidney Cancer	CTD_human_DG	15341671		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	CTD_human_DG	15341671		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	BEFREE	30313035		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	22481237, 22722710, 23526365, 28456659, 29768183, 30443171		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of mouth	Malignant neoplasm of mouth	BEFREE	15645429		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of mouth	Malignant neoplasm of mouth	CTD_human_DG	22972152		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	23524894, 24626771		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	16778198, 16832411, 18582504, 19491262, 20173668, 21236457, 22462691, 24970329, 28350132, 29303911, 29389953, 30313035		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	12702552, 16920733, 17178897, 17220478, 19649210, 20118910, 20466611, 21454613, 23287991, 23377825, 23874837, 26202882, 28216640, 28371345, 29733518		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	CTD_human_DG	15341671		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	20388062, 22844455, 23099645, 23846687, 24985974, 27154576		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	30914736		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	12046693, 12429530, 12702552, 15645429, 15761963, 16920733, 17178897, 17916902, 19259744, 19414333, 20300662, 21236457, 21398495, 21784644, 22481237, 22678098, 22844455, 22886631, 23188716, 23671130, 23750037, 25335733, 25860930, 26202882, 26349604, 26431493, 27414086, 28075464, 28350132, 28545025, 28579171, 28615452, 29768183, 29898756, 30313035, 30443171, 30538287, 30582284, 31132412, 31694959, 31723002		★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	18217980, 31242951		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	10676663, 15184886, 15520163, 17178897, 19259744, 21184144, 26895766, 27338835, 30340826		★☆☆☆☆ Found in Text Mining only
Mammary Carcinoma, Human	Marfan Syndrome	CTD_human_DG	15341671		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	15184886, 20348948, 23899187, 31253870		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	CTD_human_DG	15341671		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	LHGDN	16707596		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms, Human	Mammary Neoplasms	CTD_human_DG	15341671		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	12046693, 12429530, 31594284		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
melanoma	Melanoma	CTD_human_DG	15341671		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Meningioma	Meningioma	Pubtator	34385566	Associate	★☆☆☆☆ Found in Text Mining only
Merkel cell carcinoma	Merkel cell carcinoma	BEFREE	31694959		★☆☆☆☆ Found in Text Mining only
Metastatic Prostate Carcinoma	Metastatic Prostate Carcinoma	BEFREE	28371345		★☆☆☆☆ Found in Text Mining only
Miscarriage	Miscarriage	BEFREE	31339191		★☆☆☆☆ Found in Text Mining only
Mixed oligoastrocytoma	Oligoastrocytoma	CTD_human_DG	15341671		★☆☆☆☆ Found in Text Mining only
Mouth Neoplasms	Mouth Neoplasms	CTD_human_DG	22972152		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Moyamoya Disease	Moyamoya disease	Pubtator	37400835	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Hemangioblastomas	Multiple Hemangioblastomas	CTD_human_DG	15341671		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple sclerosis	Pubtator	28981455	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple sclerosis	Pubtator	36499320	Inhibit	★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	BEFREE	25520514, 29738439		★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Carcinoma	Nasopharyngeal carcinoma	Pubtator	25520514	Inhibit	★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Carcinoma	Nasopharyngeal carcinoma	Pubtator	29738439, 37479693	Associate	★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Neoplasms	Nasopharyngeal carcinoma	Pubtator	29738439	Inhibit	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	12426141, 12432451, 12872253, 15341671, 15645429, 16707596, 16778198, 16920733, 17170744, 17569115, 18377423, 19491262, 20173668, 20388062, 20416281, 20466611, 20606648, 21236457, 21463610, 21775055, 21912630, 22462691, 22481237, 22678098, 22722710, 22972152, 23581296, 23671130, 23874837, 23899187, 24302615, 24626771, 24970329, 24985974, 25335733, 25777142, 26202882, 26297987, 26359353, 26852918, 27154576, 27338835, 27414086, 27589737, 27782193, 28075464, 28498432, 28537875, 29137287, 29236331, 29248714, 29283328, 29389953, 29569762, 29738439, 30033230, 30914736, 31132412, 31452779, 31694959, 31723002, 31831018, 9766676		★☆☆☆☆ Found in Text Mining only
Nervous System Diseases	Nervous system disease	Pubtator	27716814	Associate	★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	12962147, 18022432, 24269992, 26653549, 27894074, 29018329		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	24269992, 27894074, 35008802	Associate	★☆☆☆☆ Found in Text Mining only
Neuroectodermal Tumor, Primitive	Neuroectodermal Tumors	BEFREE	12962147		★☆☆☆☆ Found in Text Mining only
Neuropathy	Neuropathy	BEFREE	24136616		★☆☆☆☆ Found in Text Mining only
Neuropathy hereditary motor and sensory LOM type	Hereditary motor and sensory neuropathy	Pubtator	24136616, 39201732	Associate	★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	CTD_human_DG	15341671		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	22481237, 28456659, 29431240, 30443171		★☆☆☆☆ Found in Text Mining only
Oropharyngeal Carcinoma	Oropharyngeal Carcinoma	CTD_human_DG	22972152		★☆☆☆☆ Found in Text Mining only
Oropharyngeal Neoplasms	Oropharyngeal Neoplasm	CTD_human_DG	22972152		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteosarcoma	Osteosarcoma	BEFREE	20664979, 28906492, 29072693, 29524631		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	21706236, 28906492, 34099022	Associate	★☆☆☆☆ Found in Text Mining only
Ovarian Carcinoma	Ovarian Carcinoma	BEFREE	23524894		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	24626771		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	26735889, 35840928, 37793886	Associate	★☆☆☆☆ Found in Text Mining only
PANCREATIC AND CEREBELLAR AGENESIS	PANCREATIC AND CEREBELLAR AGENESIS	BEFREE	20173668		★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	16778198, 16832411, 18582504, 19491262, 20173668, 21236457, 22462691, 24970329, 28350132, 29303911, 29389953, 30313035		★☆☆☆☆ Found in Text Mining only
Pancreatic Ductal Adenocarcinoma	Pancreatic adenocarcinoma	BEFREE	16778198, 28350132		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasm	Pancreatic Neoplasm	LHGDN	18582504		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	16832411, 20173668, 29303911	Associate	★☆☆☆☆ Found in Text Mining only
Papillary Renal Cell Carcinoma	Papillary Renal Carcinoma	CTD_human_DG	15108329		★☆☆☆☆ Found in Text Mining only
Papillary thyroid carcinoma	Papillary thyroid carcinoma	BEFREE	20835551		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	23430405		★☆☆☆☆ Found in Text Mining only
Peripheral demyelinating neuropathy	Demyelinating neuropathy	BEFREE	12872253, 17142040, 28003645, 29898756		★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Nervous System Diseases	BEFREE	15082788, 29724652		★☆☆☆☆ Found in Text Mining only
Peripheral Neuropathy	Peripheral Neuropathy	BEFREE	15082788, 29724652		★☆☆☆☆ Found in Text Mining only
Peritonitis	Peritonitis	Pubtator	37793886	Associate	★☆☆☆☆ Found in Text Mining only
Pilocytic Astrocytoma	Astrocytoma	CTD_human_DG	15341671		★☆☆☆☆ Found in Text Mining only
Poikiloderma with Neutropenia	Poikiloderma With Neutropenia	BEFREE	30538287		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	12702552, 16920733, 17178897, 17220478, 19649210, 20118910, 20466611, 21454613, 23287991, 23377825, 23874837, 26202882, 28216640, 28371345, 29733518		★☆☆☆☆ Found in Text Mining only
Prostatic Intraepithelial Neoplasias	Prostatic Neoplasms	BEFREE	22886631		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	BEFREE	10428464, 28371345		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	15247272, 18712736, 19649210, 20118910, 20466611, 21178489, 23287991, 23377825, 23874837, 24386364, 33398037, 33483585, 34298089, 34785213, 37047218	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic Neoplasms	CTD_human_DG	15341671		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic Neoplasms	LHGDN	17220478		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	17220478, 23634903, 26895766	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Protoplasmic astrocytoma	Protoplasmic Astrocytoma	CTD_human_DG	15341671		★☆☆☆☆ Found in Text Mining only
Rectal Carcinoma	Rectal Carcinoma	BEFREE	29801473		★☆☆☆☆ Found in Text Mining only
Renal carcinoma	Renal Carcinoma	BEFREE	12767066		★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	11448934		★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	CTD_human_DG	15108329		★☆☆☆☆ Found in Text Mining only
Sarcoma Ewing	Sarcoma	Pubtator	32968877	Associate	★☆☆☆☆ Found in Text Mining only
Sarcomatoid Renal Cell Carcinoma	Renal Carcinoma	CTD_human_DG	15108329		★☆☆☆☆ Found in Text Mining only
Secondary malignant neoplasm of colon and/or rectum	Colorectal Neoplasms	BEFREE	27338835		★☆☆☆☆ Found in Text Mining only
Sensory neuropathy	Sensory neuropathy	BEFREE	28776325		★☆☆☆☆ Found in Text Mining only
Sick Sinus Syndrome	Sick sinus syndrome	Pubtator	23973486	Associate	★☆☆☆☆ Found in Text Mining only
Small cell carcinoma of lung	Lung carcinoma	CTD_human_DG	15341671		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	LHGDN	17069588		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	22481237, 22722710, 22972152		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	17069588, 23192272, 27414086		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of oropharynx	Oropharyngeal carcinoma	BEFREE	22972152		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	CTD_human_DG	22972152		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	20388062, 22844455, 23099645, 23846687, 24985974, 27154576, 31452779		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	15761963, 21052891	Associate	★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	27154576	Inhibit	★☆☆☆☆ Found in Text Mining only
Strawberry nevus of skin	Strawberry Nevus Of Skin	BEFREE	29569762		★☆☆☆☆ Found in Text Mining only
Subependymal Giant Cell Astrocytoma	Astrocytoma	CTD_human_DG	15341671		★☆☆☆☆ Found in Text Mining only
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	20835551	Stimulate	★☆☆☆☆ Found in Text Mining only
Thyroid carcinoma	Thyroid Carcinoma	BEFREE	20835551		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	BEFREE	20835551		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	35459269, 36594086	Associate	★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	BEFREE	28219902		★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	26249737, 30813460	Associate	★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	30914736	Stimulate	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	18217980, 31242951, 32975231, 37329997	Associate	★☆☆☆☆ Found in Text Mining only