MTRR (5-methyltetrahydrofolate-homocysteine methyltransferase reductase)

Gene

• Entrez ID: 4552
• Gene name: 5-methyltetrahydrofolate-homocysteine methyltransferase reductase
• Gene symbol: MTRR
• Synonyms (NCBI Gene): MSR, cblE
• Chromosome: 5
• Chromosome location: 5p15.31
• Summary: This gene encodes a member of the ferredoxin-NADP(+) reductase (FNR) family of electron transferases. This protein functions in the synthesis of methionine by regenerating methionine synthase to a functional state. Because methionine synthesis requires me

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs137853061	G>A	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs137853062	C>T	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs142714881	C>T	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, non coding transcript variant
rs147277149	C>T	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs148909799	A>G	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant, non coding transcript variant
rs754990692	C>T	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs768980918	GAGA>-	Pathogenic, uncertain-significance	Splice acceptor variant, coding sequence variant, non coding transcript variant
rs796052001	GTT>-	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, non coding transcript variant, inframe deletion, intron variant
rs893229476	T>C	Pathogenic	Non coding transcript variant, intron variant
rs1189298981	G>-,GG	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1293600145	A>T	Likely-pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs1554006017	T>G	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs1579619636	G>-	Pathogenic	Intron variant, splice donor variant, non coding transcript variant, frameshift variant, coding sequence variant
rs1579758005	AG>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT001613	hsa-let-7b-5p	pSILAC	18668040
MIRT031186	hsa-miR-19b-3p	Sequencing	20371350
MIRT001613	hsa-let-7b-5p	Proteomics;Other	18668040
MIRT1165395	hsa-miR-2110	CLIP-seq
MIRT1165396	hsa-miR-3150a-3p	CLIP-seq
MIRT1165397	hsa-miR-3175	CLIP-seq
MIRT1165398	hsa-miR-3647-3p	CLIP-seq
MIRT1165399	hsa-miR-3670	CLIP-seq
MIRT1165400	hsa-miR-3922-5p	CLIP-seq
MIRT1165401	hsa-miR-4260	CLIP-seq
MIRT1165402	hsa-miR-4269	CLIP-seq
MIRT1165403	hsa-miR-4476	CLIP-seq
MIRT1165404	hsa-miR-4646-5p	CLIP-seq
MIRT1165405	hsa-miR-513a-5p	CLIP-seq
MIRT1165406	hsa-miR-939	CLIP-seq
MIRT1165407	hsa-miR-1271	CLIP-seq
MIRT1165395	hsa-miR-2110	CLIP-seq
MIRT1165408	hsa-miR-224	CLIP-seq
MIRT1165409	hsa-miR-3121-5p	CLIP-seq
MIRT1165396	hsa-miR-3150a-3p	CLIP-seq
MIRT1165397	hsa-miR-3175	CLIP-seq
MIRT1165410	hsa-miR-3199	CLIP-seq
MIRT1165411	hsa-miR-3202	CLIP-seq
MIRT1165399	hsa-miR-3670	CLIP-seq
MIRT1165400	hsa-miR-3922-5p	CLIP-seq
MIRT1165412	hsa-miR-3935	CLIP-seq
MIRT1165413	hsa-miR-409-3p	CLIP-seq
MIRT1165401	hsa-miR-4260	CLIP-seq
MIRT1165414	hsa-miR-4264	CLIP-seq
MIRT1165415	hsa-miR-4287	CLIP-seq
MIRT1165416	hsa-miR-4457	CLIP-seq
MIRT1165417	hsa-miR-4469	CLIP-seq
MIRT1165403	hsa-miR-4476	CLIP-seq
MIRT1165418	hsa-miR-4493	CLIP-seq
MIRT1165419	hsa-miR-4533	CLIP-seq
MIRT1165404	hsa-miR-4646-5p	CLIP-seq
MIRT1165420	hsa-miR-4677-3p	CLIP-seq
MIRT1165421	hsa-miR-4679	CLIP-seq
MIRT1165422	hsa-miR-4685-3p	CLIP-seq
MIRT1165423	hsa-miR-4704-3p	CLIP-seq
MIRT1165424	hsa-miR-4740-5p	CLIP-seq
MIRT1165425	hsa-miR-4781-3p	CLIP-seq
MIRT1165426	hsa-miR-4797-5p	CLIP-seq
MIRT1165427	hsa-miR-485-3p	CLIP-seq
MIRT1165428	hsa-miR-510	CLIP-seq
MIRT1165429	hsa-miR-512-5p	CLIP-seq
MIRT1165405	hsa-miR-513a-5p	CLIP-seq
MIRT1165430	hsa-miR-513b	CLIP-seq
MIRT1165431	hsa-miR-556-5p	CLIP-seq
MIRT1165432	hsa-miR-585	CLIP-seq
MIRT1165433	hsa-miR-593	CLIP-seq
MIRT1165434	hsa-miR-610	CLIP-seq
MIRT1165435	hsa-miR-622	CLIP-seq
MIRT1165436	hsa-miR-671-5p	CLIP-seq
MIRT1165437	hsa-miR-873	CLIP-seq
MIRT1165406	hsa-miR-939	CLIP-seq
MIRT1165438	hsa-miR-96	CLIP-seq
MIRT1165407	hsa-miR-1271	CLIP-seq
MIRT1165411	hsa-miR-3202	CLIP-seq
MIRT1165412	hsa-miR-3935	CLIP-seq
MIRT1165403	hsa-miR-4476	CLIP-seq
MIRT1165423	hsa-miR-4704-3p	CLIP-seq
MIRT1165432	hsa-miR-585	CLIP-seq
MIRT1165438	hsa-miR-96	CLIP-seq
MIRT1165407	hsa-miR-1271	CLIP-seq
MIRT2276628	hsa-miR-1278	CLIP-seq
MIRT1165408	hsa-miR-224	CLIP-seq
MIRT2276629	hsa-miR-320a	CLIP-seq
MIRT2276630	hsa-miR-320b	CLIP-seq
MIRT2276631	hsa-miR-320c	CLIP-seq
MIRT2276632	hsa-miR-320d	CLIP-seq
MIRT2276633	hsa-miR-3923	CLIP-seq
MIRT1165414	hsa-miR-4264	CLIP-seq
MIRT1165415	hsa-miR-4287	CLIP-seq
MIRT2276634	hsa-miR-4429	CLIP-seq
MIRT1165416	hsa-miR-4457	CLIP-seq
MIRT1165417	hsa-miR-4469	CLIP-seq
MIRT2276635	hsa-miR-4668-3p	CLIP-seq
MIRT1165422	hsa-miR-4685-3p	CLIP-seq
MIRT1165423	hsa-miR-4704-3p	CLIP-seq
MIRT1165428	hsa-miR-510	CLIP-seq
MIRT1165429	hsa-miR-512-5p	CLIP-seq
MIRT1165430	hsa-miR-513b	CLIP-seq
MIRT1165431	hsa-miR-556-5p	CLIP-seq
MIRT1165434	hsa-miR-610	CLIP-seq
MIRT1165435	hsa-miR-622	CLIP-seq
MIRT2276636	hsa-miR-628-3p	CLIP-seq
MIRT1165438	hsa-miR-96	CLIP-seq
MIRT2575481	hsa-miR-1263	CLIP-seq
MIRT2575482	hsa-miR-205	CLIP-seq
MIRT2575483	hsa-miR-2053	CLIP-seq
MIRT1165411	hsa-miR-3202	CLIP-seq
MIRT2575484	hsa-miR-3607-3p	CLIP-seq
MIRT2575485	hsa-miR-3646	CLIP-seq
MIRT1165412	hsa-miR-3935	CLIP-seq
MIRT1165413	hsa-miR-409-3p	CLIP-seq
MIRT1165403	hsa-miR-4476	CLIP-seq
MIRT2276635	hsa-miR-4668-3p	CLIP-seq
MIRT2575486	hsa-miR-4716-5p	CLIP-seq
MIRT2575487	hsa-miR-4762-5p	CLIP-seq
MIRT1165432	hsa-miR-585	CLIP-seq
MIRT2575488	hsa-miR-640	CLIP-seq
MIRT1165437	hsa-miR-873	CLIP-seq
MIRT2575481	hsa-miR-1263	CLIP-seq
MIRT2685514	hsa-miR-134	CLIP-seq
MIRT2575482	hsa-miR-205	CLIP-seq
MIRT2575483	hsa-miR-2053	CLIP-seq
MIRT2685515	hsa-miR-3118	CLIP-seq
MIRT2685516	hsa-miR-3164	CLIP-seq
MIRT1165411	hsa-miR-3202	CLIP-seq
MIRT2575484	hsa-miR-3607-3p	CLIP-seq
MIRT2575485	hsa-miR-3646	CLIP-seq
MIRT1165412	hsa-miR-3935	CLIP-seq
MIRT1165403	hsa-miR-4476	CLIP-seq
MIRT2276635	hsa-miR-4668-3p	CLIP-seq
MIRT2575486	hsa-miR-4716-5p	CLIP-seq
MIRT2575487	hsa-miR-4762-5p	CLIP-seq
MIRT2685517	hsa-miR-4766-5p	CLIP-seq
MIRT1165432	hsa-miR-585	CLIP-seq
MIRT2575488	hsa-miR-640	CLIP-seq
MIRT2685518	hsa-miR-758	CLIP-seq
MIRT1165437	hsa-miR-873	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003958	Function	NADPH-hemoprotein reductase activity	IDA	11466310
GO:0005515	Function	Protein binding	IPI	17288554, 25416956, 27771510
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IBA
GO:0005829	Component	Cytosol	IDA	18221906
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	TAS
GO:0008652	Process	Amino acid biosynthetic process	IEA
GO:0009086	Process	Methionine biosynthetic process	IBA
GO:0009086	Process	Methionine biosynthetic process	IDA	11466310
GO:0009086	Process	Methionine biosynthetic process	IEA
GO:0009235	Process	Cobalamin metabolic process	IEA
GO:0009235	Process	Cobalamin metabolic process	TAS
GO:0010181	Function	FMN binding	IBA
GO:0010181	Function	FMN binding	IDA	11466310
GO:0010181	Function	FMN binding	IEA
GO:0016491	Function	Oxidoreductase activity	IEA
GO:0016723	Function	Oxidoreductase activity, acting on metal ions, NAD or NADP as acceptor	IDA	17892308
GO:0030586	Function	[methionine synthase] reductase (NADPH) activity	IBA
GO:0030586	Function	[methionine synthase] reductase (NADPH) activity	IDA	9501215, 11466310
GO:0030586	Function	[methionine synthase] reductase (NADPH) activity	IEA
GO:0030586	Function	[methionine synthase] reductase (NADPH) activity	TAS	17892308
GO:0033353	Process	S-adenosylmethionine cycle	ISS	17369066
GO:0043418	Process	Homocysteine catabolic process	IDA	11466310
GO:0045111	Component	Intermediate filament cytoskeleton	IDA
GO:0046655	Process	Folic acid metabolic process	IDA	11466310
GO:0046655	Process	Folic acid metabolic process	IEA
GO:0046655	Process	Folic acid metabolic process	ISS
GO:0050660	Function	Flavin adenine dinucleotide binding	IBA
GO:0050660	Function	Flavin adenine dinucleotide binding	IDA	17892308
GO:0050667	Process	Homocysteine metabolic process	IBA
GO:0050667	Process	Homocysteine metabolic process	IEA
GO:0070402	Function	NADPH binding	IDA	11466310
GO:0071949	Function	FAD binding	IDA	11466310
GO:0140104	Function	Molecular carrier activity	EXP	21071249

Other IDs

• MIM: 602568
• HGNC: 7473
• e!Ensembl: ENSG00000124275

Protein

• UniProt ID: Q9UBK8
• Protein name: Methionine synthase reductase (MSR) (EC 1.16.1.8) (Aquacobalamin reductase) (AqCbl reductase)
• Protein function: Key enzyme in methionine and folate homeostasis responsible for the reactivation of methionine synthase (MTR/MS) activity by catalyzing the reductive methylation of MTR-bound cob(II)alamin (PubMed:17892308). Cobalamin (vitamin B12) forms a compl
• PDB: 2QTL, 2QTZ
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00258	Flavodoxin_1	6 → 142	Flavodoxin	Domain
  PF00667	FAD_binding_1	267 → 492	FAD binding domain	Domain
  PF00175	NAD_binding_1	542 → 662	Oxidoreductase NAD-binding domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Found in all tissues tested, particularly abundant in skeletal muscle.
• Sequence:

  MRRFLLLYATQQGQAKAIAEEICEQAVVHGFSADLHCISESDKYDLKTETAPLVVVVSTT
  GTGDPPDTARKFVKEIQNQTLPVDFFAHLRYGLLGLGDSEYTYFCNGGKIIDKRLQELGA
  RHFYDTGHADDCVGLELVVEPWIAGLWPALRKHFRSSRGQEEISGALPVASPASSRTDLV
  KSELLHIESQVELLRFDDSGRKDSEVLKQNAVNSNQSNVVIEDFESSLTRSVPPLSQASL
  NIPGLPPEYLQVHLQESLGQEESQVSVTSADPVFQVPISKAVQLTTNDAIKTTLLVELDI
  SNTDFSYQPGDAFSVICPNSDSEVQSLLQRLQLEDKREHCVLLKIKADTKKKGATLPQHI
  PAGCSLQFIFTWCLEIRAIPKKAFLRALVDYTSDSAEKRRLQELCSKQGAADYSRFVRDA
  CACLLDLLLAFPSCQPPLSLLLEHLPKLQPRPYSCASSSLFHPGKLHFVFNIVEFLSTAT
  TEVLRKGVCTGWLALLVASVLQPNIHASHEDSGKALAPKISISPRTTNSFHLPDDPSIPI
  IMVGPGTGIAPFIGFLQHREKLQEQHPDGNFGAMWLFFGCRHKDRDYLFRKELRHFLKHG
  ILTHLKVSFSRDAPVGEEEAPAKYVQDNIQLHGQQVARILLQENGHIYVCGDAKNMAKDV
  HDALVQIISKEVGVEKLEAMKTLATLKEEKRYLQDIWS

• Sequence length: 698

Pathways

KEGG:

Cobalamin transport and metabolism

Reactome:

Methylation
Sulfur amino acid metabolism
Cobalamin (Cbl, vitamin B12) transport and metabolism
Defective MTRR causes methylmalonic aciduria and homocystinuria type cblE
Defective MTR causes methylmalonic aciduria and homocystinuria type cblG

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
Colon adenocarcinoma	Likely pathogenic	rs2126808287	RCV005927088	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Disorders of Intracellular Cobalamin Metabolism	Likely pathogenic; Pathogenic	rs137853062, rs893229476	RCV002512874 RCV002537460	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Homocystinuria without methylmalonic aciduria	Pathogenic	rs754990692	RCV000825568	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Methylcobalamin deficiency type cblE	Pathogenic; Likely pathogenic	rs1207820860, rs2126745614, rs1421007019, rs2126772123, rs1440404360, rs2126808162, rs761061866, rs1212701617, rs2126663415, rs2126745648, rs2126675629, rs2126793645, rs1737852706, rs772608494, rs2126727585, rs772547714, rs2126675707, rs754619743, rs1400065323, rs2126812977, rs2126676051, rs1353165398, rs757800887, rs2126692827, rs2479100979, rs2479102741, rs1254913477, rs771216289, rs147960130, rs2478802312, rs1748372023, rs2478892105, rs2478943007, rs2479100396, rs2478942663, rs201348649, rs2478740609, rs1737818730, rs2479101644, rs2479148171, rs2478805727, rs2479147977, rs2479073064, rs2126812944, rs137853061, rs2126808021, rs137853062, rs2126808287, rs147277149, rs747303076, rs2478648157, rs748533060, rs747041200, rs767610650, rs2478892282, rs1737148739, rs2479023142, rs867974337, rs1734858651, rs2478890930, rs2478700578, rs2478942096, rs2478705208, rs2478743643, rs2478703868, rs146940932, rs751833826, rs2478942250, rs919772858, rs2479102700, rs1748694912, rs1554006017, rs1293600145, rs768980918, rs1579619636, rs1579758005, rs893229476, rs754990692, rs1189298981, rs1747827267, rs375908206, rs778738842, rs1747853230, rs1408257020, rs1734931275, rs1737110583, rs1748371268, rs1734927527, rs752858024, rs1561245416, rs777997657, rs1219605974	RCV001380274 RCV001383252 RCV001380276 RCV001385070 RCV001383913 RCV001382154 RCV001836441 RCV001782470 RCV001994586 RCV001941840 RCV001960278 RCV001942388 RCV001952302 RCV002020460 RCV002000164 RCV002035229 RCV001994688 RCV001979539 RCV002033125 RCV001953506 RCV002046730 RCV002503659 RCV001914825 RCV002012576 RCV003091956 RCV003097546 RCV002595427 RCV002600189 RCV002725733 RCV002770836 RCV002820743 RCV002815149 RCV002842594 RCV002863739 RCV002881842 RCV002886271 RCV002988551 RCV003013433 RCV003003293 RCV003034051 RCV003046283 RCV003034770 RCV003047515 RCV000007443 RCV000007446 RCV000007447 RCV000007449 RCV003143428 RCV001068078 RCV004783066 RCV005036814 RCV005036815 RCV003507512 RCV005100186 RCV003486328 RCV003507681 RCV003507696 RCV003508399 RCV003507119 RCV003507172 RCV003507115 RCV003507921 RCV003507987 RCV003618182 RCV003617420 RCV003617567 RCV003825216 RCV003822840 RCV003830114 RCV003842431 RCV003873944 RCV005038715 RCV000625774 RCV001834982 RCV000824011 RCV000805731 RCV000805181 RCV000820217 RCV001869267 RCV001066391 RCV001059702 RCV001043620 RCV001042201 RCV001036277 RCV001206309 RCV001201719 RCV001206236 RCV001212318 RCV001204859 RCV001226344 RCV001226293 RCV001236196 RCV001243293 RCV001233224	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
MTRR-related disorder	Likely pathogenic; Pathogenic	rs2126675707, rs768980918	RCV003395318 RCV004753037	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neural tube defects, folate-sensitive	Pathogenic; Likely pathogenic	rs1421007019, rs761061866, rs772547714, rs754619743, rs1400065323, rs1353165398, rs2479100979, rs2479102741, rs147960130, rs1737818730, rs137853061, rs137853062, rs767124472, rs2126808287, rs147277149, rs2479159008, rs2476220505, rs780448175, rs2478797022, rs747303076, rs2478742432, rs1181934270, rs1748331186, rs1212701617, rs2126645870, rs2478648157, rs772608494, rs748533060, rs1189298981, rs1738695332, rs2478742839, rs2478800173, rs1532268, rs747041200, rs1737854315, rs2479147425, rs2478705556, rs767610650, rs2478947085, rs2479103276, rs2478890236, rs2479023948, rs2478965467, rs2479148728, rs143058455, rs1748694912, rs1293600145, rs768980918, rs1579619636, rs893229476, rs754990692, rs375908206, rs1734858651, rs778738842, rs1408257020, rs1734931275, rs752858024, rs777997657	RCV005038175 RCV002501867 RCV004571699 RCV003464333 RCV003470947 RCV002503659 RCV003465958 RCV003459750 RCV003465817 RCV003465890 RCV003460433 RCV003460434 RCV004572835 RCV004572859 RCV003469197 RCV003461980 RCV003461981 RCV003461982 RCV003461983 RCV003461984 RCV003470268 RCV003461985 RCV003470269 RCV003461986 RCV003470270 RCV003461987 RCV003470271 RCV003461988 RCV003461989 RCV003461990 RCV003461991 RCV003461992 RCV003461993 RCV003470272 RCV003461994 RCV003463063 RCV003470273 RCV003470274 RCV003463065 RCV003463066 RCV003463067 RCV003463068 RCV003463069 RCV003470275 RCV004576279 RCV004576280 RCV004576283 RCV003465365 RCV003465707 RCV003467413 RCV003467497 RCV002487868 RCV003461302 RCV002481908 RCV003461459 RCV003461431 RCV003462674 RCV003462692 RCV003462774 RCV004570619	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANENCEPHALY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
APROSENCEPHALY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC LEFT-SIDED ULCERATIVE COLITIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL SEPTAL DEFECT OF HEART	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Down syndrome, susceptibility to	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastrointestinal stromal tumor	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART DISEASES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA DUE TO DEFECT IN COBALAMIN METABOLISM, CBLE COMPLEMENTATION TYPE	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, CBLE TYPE	—	HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERHOMOCYSTEINEMIA	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INFERTILITY, MALE	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MALE INFERTILITY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Methotrexate response	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Methylcobalamin deficiency type cblG	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NERVOUS SYSTEM DISEASES	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NERVOUS SYSTEM DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURAL TUBE DEFECT, FOLATE-SENSITIVE	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neural tube defects, folate-sensitive, susceptibility to	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARKINSON DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ULCERATIVE COLITIS	—	Disgenet	★★☆☆☆ 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
Acromegaly	Acromegaly	BEFREE	26154858		★☆☆☆☆ Found in Text Mining only
Acute leukemia	Leukemia	BEFREE	22706675		★☆☆☆☆ Found in Text Mining only
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	15797993, 17454638, 19775302, 21657963, 24261678, 31002356		★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	CTD_human_DG	17389618		★☆☆☆☆ Found in Text Mining only
Adenoma of large intestine	Colorectal adenoma	BEFREE	17389618, 31740010		★☆☆☆☆ Found in Text Mining only
Adenoma, Basal Cell	Adenoma	CTD_human_DG	17389618		★☆☆☆☆ Found in Text Mining only
Adenoma, Microcystic	Adenoma	CTD_human_DG	17389618		★☆☆☆☆ Found in Text Mining only
Adenoma, Monomorphic	Adenoma	CTD_human_DG	17389618		★☆☆☆☆ Found in Text Mining only
Adenoma, Trabecular	Adenoma	CTD_human_DG	17389618		★☆☆☆☆ Found in Text Mining only
Adrenoleukodystrophy	Adrenoleukodystrophy	Pubtator	19353223	Associate	★☆☆☆☆ Found in Text Mining only
Adult Acute Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	15159311, 15797993, 17454638, 21657963, 24261678, 31002356		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease, Late Onset	Alzheimer disease	BEFREE	22034983		★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Anemia Macrocytic	Macrocytic anemia	Pubtator	25526710	Associate	★☆☆☆☆ Found in Text Mining only
Anemia Megaloblastic	Megaloblastic anemia	Pubtator	9501215	Associate	★☆☆☆☆ Found in Text Mining only
Anemia, Megaloblastic	Anemia	BEFREE	10484769, 17554763		★☆☆☆☆ Found in Text Mining only
Anemia, Megaloblastic	Anemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Anencephaly	Anencephaly	BEFREE	26045171		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Aortic Aneurysm Abdominal	Aortic aneurysm	Pubtator	20871623	Associate	★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm, Abdominal	Aortic Aneurysm	BEFREE	18635682		★☆☆☆☆ Found in Text Mining only
Aortic Dissection	Aortic dissection	Pubtator	20871623	Associate	★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	10407492		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	10407492		★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	29348398		★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	BEFREE	19440165, 27755291		★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	Pubtator	22057956	Associate	★☆☆☆☆ Found in Text Mining only
Azoospermia	Azoospermia	BEFREE	25578539		★☆☆☆☆ Found in Text Mining only
Azoospermia Nonobstructive	Nonobstructive azoospermia	Pubtator	31377750	Associate	★☆☆☆☆ Found in Text Mining only
Azoospermia, Nonobstructive	Azoospermia	BEFREE	31377750		★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar Disorder	LHGDN	17417062		★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	17311259, 19837268		★☆☆☆☆ Found in Text Mining only
Brain Tumor, Primary	Brain Neoplasms	BEFREE	18483342		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	18174236, 18204969, 18842997, 20180013, 20411324, 21105050, 21987236, 22236648, 22373582, 24130171, 24815481, 25648260, 27347936, 31246991		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	18842997, 22373582, 24130171, 25598430, 25801246, 27347936	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	19035314, 25318605, 27936032	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	17311259, 19837268		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	16006998, 17468511, 17533396, 23372658, 28537809		★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	24278388	Associate	★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	17553479		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	28253292	Associate	★☆☆☆☆ Found in Text Mining only
Cartilage Diseases	Cartilage disease	Pubtator	27469625	Associate	★☆☆☆☆ Found in Text Mining only
Celiac Disease	Celiac disease	Pubtator	21688148	Associate	★☆☆☆☆ Found in Text Mining only
Cerebral atrophy	Cerebral Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebral cortical atrophy	Cerebral cortical atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Ischemic stroke	Pubtator	21935458, 30884202	Associate	★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	LHGDN	17461517		★☆☆☆☆ Found in Text Mining only
Cerebrovascular Disorders	Cerebrovascular Disorders	BEFREE	16894458		★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	19760026, 21349258, 29740106		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical Intraepithelial Neoplasia	Cervical Intraepithelial Neoplasia	BEFREE	19760026		★☆☆☆☆ Found in Text Mining only
Cervix carcinoma	Cervix carcinoma	BEFREE	19760026, 21349258, 29740106		★☆☆☆☆ Found in Text Mining only
Childhood Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	BEFREE	15797993, 17454638, 20955826, 21657963, 23940529, 24261678, 31002356		★☆☆☆☆ Found in Text Mining only
Childhood Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	CTD_human_DG	17136115		★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	BEFREE	23595572		★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	BEFREE	18635682		★☆☆☆☆ Found in Text Mining only
Cleft Lip	Cleft lip	Pubtator	26963196, 27604992	Associate	★☆☆☆☆ Found in Text Mining only
Cleft Palate	Cleft palate	Pubtator	27167580	Associate	★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognitive disorder	BEFREE	25173634		★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	25526710	Associate	★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	19776626, 21438757, 22961839		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	21603981	Associate	★☆☆☆☆ Found in Text Mining only
Color Blindness, Blue	Color blindness	BEFREE	25809864		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	12020105, 16351505, 20549016, 21211571, 22719222, 24377513, 26214647, 28691890, 31740010		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	CTD_human_DG	16985020, 17389618		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	CTD_human_DG	16985020, 17389618		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	19776626, 20549016, 21603981, 22719222, 22961839, 26108676, 29925788, 31554631, 31740010, 36364857, 38514198	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	22719222	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital Heart Defects	Congenital heart defects	BEFREE	17087642, 22057956, 24913415		★☆☆☆☆ Found in Text Mining only
Congenital Heart Defects	Congenital heart defects	LHGDN	17087642		★☆☆☆☆ Found in Text Mining only
Congenital heart disease	Congenital Heart Disease	BEFREE	22179537, 24595101, 28778621, 30333252		★☆☆☆☆ Found in Text Mining only
Conotruncal cardiac defects	Conotruncal cardiac defect	Pubtator	19493349, 24585533, 30165839, 31851787	Associate	★☆☆☆☆ Found in Text Mining only
Conotruncal defect	Conotruncal defect	BEFREE	30165839		★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	24278388		★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	12801615		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	12801615, 16268464, 17553479, 22339686		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	Pubtator	20962453	Associate	★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	12801615, 17087642, 18226574, 20718043, 21780915, 22057956, 22179537, 24595101, 24913415, 26045171, 28758112, 28778621, 28876333, 30333252		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	BEFREE	17925002		★☆☆☆☆ Found in Text Mining only
Cystathionine beta-Synthase Deficiency Disease	Cystathionine Beta-Synthase Deficiency Disease	CTD_human_DG	12555939, 15714522		★☆☆☆☆ Found in Text Mining only
Deep Vein Thrombosis	Thrombosis	BEFREE	18034637, 29927730		★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	27469625, 28624198		★☆☆☆☆ Found in Text Mining only
Dental Caries	Dental caries	Pubtator	37531512	Associate	★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	23280573		★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	9501215	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Gestational	Gestational diabetes	Pubtator	35631247	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	27983710	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	18774994		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	27983710		★☆☆☆☆ Found in Text Mining only
Diffuse Large B-Cell Lymphoma	Diffuse Lymphoma	BEFREE	18042267		★☆☆☆☆ Found in Text Mining only
Double Outlet Right Ventricle	Double outlet right ventricle	Pubtator	22057956, 29293099	Associate	★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down Syndrome	BEFREE	10930360, 11443546, 11807890, 12626825, 12807760, 12923861, 14656028, 15889417, 16115349, 16575899, 16845273, 17934692, 18257130, 18273817, 19096127, 20718043, 20868477, 21045269, 22925068, 23094987, 24068460, 24965145, 25544792, 29130768		★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down syndrome	Pubtator	10930360, 11443546, 15585767, 18257130, 18273817, 19096127, 20868477, 21045269, 22377700	Associate	★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down Syndrome	LHGDN	12923861, 18257130		★☆☆☆☆ Found in Text Mining only
Ductus Arteriosus Patent	Patent ductus arteriosus	Pubtator	22057956	Associate	★☆☆☆☆ Found in Text Mining only
Dyslipidemias	Dyslipidemias	BEFREE	26337056, 30786773		★☆☆☆☆ Found in Text Mining only
Dyslipidemias	Dyslipidemias	Pubtator	26337056, 30786773	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	17904392		★☆☆☆☆ Found in Text Mining only
Esophagitis	Esotropia	Pubtator	25337902	Associate	★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty Liver	BEFREE	29332859		★☆☆☆☆ Found in Text Mining only
Folate Malabsorption Hereditary	Hereditary folate malabsorption	Pubtator	26266420, 26561410, 35631247	Associate	★☆☆☆☆ Found in Text Mining only
Folic Acid Deficiency	Folic Acid Deficiency	BEFREE	26154858, 26266420		★☆☆☆☆ Found in Text Mining only
Follicular adenoma	Adenoma	CTD_human_DG	17389618		★☆☆☆☆ Found in Text Mining only
Giant Cell Arteritis	Giant Cell Arteritis	BEFREE	14652285		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	22887477		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	22887477		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	LHGDN	18483342		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	28915669		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hashimoto Disease	Hashimoto Disease	BEFREE	23039890		★☆☆☆☆ Found in Text Mining only
Hashimoto Disease	Hashimoto disease	Pubtator	23039890	Associate	★☆☆☆☆ Found in Text Mining only
Head and Neck Neoplasms	Head And Neck Neoplasms	LHGDN	15894670		★☆☆☆☆ Found in Text Mining only
Heart Defects Congenital	Congenital heart defect	Pubtator	22057956, 28758112, 37183022	Associate	★☆☆☆☆ Found in Text Mining only
Heart Septal Defects Ventricular	Congenital heart septal defect	Pubtator	28758112, 29293099, 33757570	Associate	★☆☆☆☆ Found in Text Mining only
Hepatitis B Chronic	Hepatitis b	Pubtator	38634541	Associate	★☆☆☆☆ Found in Text Mining only
Homocystinuria	Homocystinuria	BEFREE	12555939, 12971424, 15714522, 17554763, 25878036, 9501215		★☆☆☆☆ Found in Text Mining only
Homocystinuria	Homocystinuria	CTD_human_DG	12555939, 15714522		★☆☆☆☆ Found in Text Mining only
Homocystinuria	Homocystinuria	Pubtator	25878036, 9501215	Associate	★☆☆☆☆ Found in Text Mining only
Homocystinuria	Homocystinuria	HPO_DG			★☆☆☆☆ Found in Text Mining only
Homocystinuria-Megaloblastic Anemia due to Defect in Cobalamin Metabolism, CblE Complementation Type	Homocystinuria-Megaloblastic Anemia	UNIPROT_DG	10484769, 9501215		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Homocystinuria-Megaloblastic Anemia due to Defect in Cobalamin Metabolism, CblE Complementation Type	Homocystinuria-Megaloblastic Anemia	GENOMICS_ENGLAND_DG	15714522, 27604308, 9501215		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Homocystinuria-Megaloblastic Anemia due to Defect in Cobalamin Metabolism, CblE Complementation Type	Homocystinuria-Megaloblastic Anemia	CLINVAR_DG	25526710, 9501215		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Homocystinuria-Megaloblastic Anemia due to Defect in Cobalamin Metabolism, CblE Complementation Type	Homocystinuria-Megaloblastic Anemia	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Huntington Disease	Huntington Disease	BEFREE	15354395		★☆☆☆☆ Found in Text Mining only
Hyperhomocysteinemia	Hyperhomocysteinemia	BEFREE	10484769, 15135249, 24686188, 24913415, 29644956, 30024025		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperhomocysteinemia	Hyperhomocysteinemia	Pubtator	15612980, 30786773, 9501215	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperhomocysteinemia	Hyperhomocysteinemia	CTD_human_DG	16575899, 17369066		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperhomocysteinemia	Hyperhomocysteinemia	LHGDN	18792976		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertension	Hypertension	Pubtator	23188888, 26266420, 26337056, 30786773, 32410296, 37154151	Associate	★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	19776634, 23188888, 26337056, 29995270, 30786773		★☆☆☆☆ Found in Text Mining only
Hypertriglyceridemia	Hypertriglyceridemia	Pubtator	26337056, 30786773	Associate	★☆☆☆☆ Found in Text Mining only
Insulin Resistance	Diabetes mellitus, type 2	Pubtator	31200713	Associate	★☆☆☆☆ Found in Text Mining only
Insulin Resistance	Diabetes mellitus, type 2	Pubtator	31246991	Stimulate	★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	BEFREE	21935458, 30884202		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	BEFREE	15135249, 18774994		★☆☆☆☆ Found in Text Mining only
L2 Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	CTD_human_DG	17136115		★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	LHGDN	18610829		★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	24261678		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	19035314		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	LHGDN	19035314		★☆☆☆☆ Found in Text Mining only
Lung Diseases	Lung disease	Pubtator	24307700	Associate	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	23372658, 24307700	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	25648260		★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	25840420	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoma, Non-Hodgkin	Non-Hodgkin lymphoma	BEFREE	15159311, 18042267, 21055808, 23913011		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	18174236, 18204969, 18842997, 20180013, 20411324, 21105050, 21987236, 22236648, 22373582, 24130171, 24815481, 25648260, 27347936, 31246991		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	BEFREE	25337902		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	16006998, 17468511, 17533396, 23372658, 28537809		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	18515090, 18843018		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	23459165, 7689419		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	17220339, 22796266, 25337902		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	17311259, 19837268		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	19035314, 20099281, 21547363, 24261678, 25337902, 28243331		★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	19760026, 21349258, 29740106		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	19776626, 21438757, 22961839		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	LHGDN	18174236		★☆☆☆☆ Found in Text Mining only
Meniere Disease	Meniere Disease	BEFREE	23560644		★☆☆☆☆ Found in Text Mining only
Meningioma	Meningioma	BEFREE	18483342, 23959833, 28915669		★☆☆☆☆ Found in Text Mining only
Meningioma	Meningioma	LHGDN	18483342		★☆☆☆☆ Found in Text Mining only
Meningioma	Meningioma	Pubtator	18483342, 34169999	Associate	★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	23280573		★☆☆☆☆ Found in Text Mining only
Mesothelioma Malignant	Mesothelioma	Pubtator	32429658	Associate	★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic syndrome	Pubtator	25318605, 28253292	Associate	★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome	Metabolic syndrome	Pubtator	25429430	Associate	★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	25429430		★☆☆☆☆ Found in Text Mining only
Metastatic Prostate Carcinoma	Metastatic Prostate Carcinoma	BEFREE	10673282, 7689419		★☆☆☆☆ Found in Text Mining only
Methylcobalamin deficiency type cblE	Methylcobalamin Deficiency	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Methylmalonic Aciduria and Homocystinuria CblF Type	Methylmalonic acidemia	Pubtator	25978498	Associate	★☆☆☆☆ Found in Text Mining only
Migraine Disorders	Migraine	BEFREE	22926161		★☆☆☆☆ Found in Text Mining only
Migraine Disorders	Migraine	Pubtator	23430981	Associate	★☆☆☆☆ Found in Text Mining only
Migraine with Aura	Migraine with Aura	BEFREE	23430981		★☆☆☆☆ Found in Text Mining only
Migraine with Aura	Migraine	Pubtator	23430981	Inhibit	★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	LHGDN	17546637		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	17655928		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	17113603, 31038186		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple sclerosis	Pubtator	31038186	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	10673282, 21547363, 21603981, 7689419		★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	CTD_human_DG	21064136		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neural tube defect, folate-sensitive	Neural Tube Defect	GENOMICS_ENGLAND_DG	27604308		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neural tube defect, folate-sensitive	Neural Tube Defect	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neural Tube Defects	Neural tube defect	Pubtator	10930360, 15060097, 26334892, 32410296	Associate	★☆☆☆☆ Found in Text Mining only
Neural Tube Defects	Neural Tube Defect	BEFREE	12649067, 12812837, 14656028, 15060097, 15306729, 15979034, 17024475, 17688469, 20047525, 23266814, 23425389, 23593147, 25005003, 26334892, 29392422, 30941645, 31238314		★☆☆☆☆ Found in Text Mining only
Neural Tube Defects	Neural Tube Defect	LHGDN	12810988		★☆☆☆☆ Found in Text Mining only
Neurodevelopmental Disorders	Neurodevelopmental Disorders	BEFREE	17853476		★☆☆☆☆ Found in Text Mining only
Neutropenia	Neutropenia	Pubtator	30927276	Associate	★☆☆☆☆ Found in Text Mining only
Non-obstructive azoospermia	Non-obstructive azoospermia	BEFREE	26196053		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	17533396, 20737570		★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	17993766, 26016497, 27793164, 27983710, 31246991		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	27793164, 27983710	Associate	★☆☆☆☆ Found in Text Mining only
Orofacial Cleft 1	Orofacial cleft	Pubtator	26963196, 27167580	Associate	★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	27469625	Associate	★☆☆☆☆ Found in Text Mining only
Ovarian Failure, Premature	Ovarian Failure	BEFREE	26874989		★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	18515090, 18843018		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasm	Pancreatic Neoplasm	LHGDN	18843018		★☆☆☆☆ Found in Text Mining only
Papillary adenoma	Papillary Adenoma	CTD_human_DG	17389618		★☆☆☆☆ Found in Text Mining only
Papilledema	Papilledema	BEFREE	31415055		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	21070756, 25648260		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Paroxysmal ventricular fibrillation	Paroxysmal ventricular fibrillation	Pubtator	27759448	Associate	★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic ovary syndrome	Pubtator	31482954	Inhibit	★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic ovary syndrome	Pubtator	31482954, 33407572	Associate	★☆☆☆☆ Found in Text Mining only
Precursor Cell Lymphoblastic Leukemia Lymphoma	Lymphoblastic Leukemia	CTD_human_DG	17136115		★☆☆☆☆ Found in Text Mining only
Premature Menopause	Premature Menopause	BEFREE	26874989		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	23459165, 7689419		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	10673282, 31127906	Associate	★☆☆☆☆ Found in Text Mining only
Rectal Neoplasms	Rectal Neoplasms	BEFREE	21603981		★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal Diseases	BEFREE	18774994		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	17611986, 28821984, 30546311		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	LHGDN	17611986		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	LHGDN	17417062		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	22813657		★☆☆☆☆ Found in Text Mining only
Skin Diseases	Skin disease	Pubtator	29421402	Associate	★☆☆☆☆ Found in Text Mining only
Skin lesion	Skin Lesion	BEFREE	29421402		★☆☆☆☆ Found in Text Mining only
Small cell carcinoma of lung	Lung carcinoma	BEFREE	17533396		★☆☆☆☆ Found in Text Mining only
Spina Bifida	Spina Bifida	BEFREE	10444342, 10791559, 12590188, 12649067, 17024475, 19493349, 28712006		★☆☆☆☆ Found in Text Mining only
Spina Bifida	Spina Bifida	LHGDN	12375236, 12590188, 17024475		★☆☆☆☆ Found in Text Mining only
Spina Bifida	Spina Bifida	HPO_DG			★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	14652285		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	17596206	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	15894670, 17596206		★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	BEFREE	29332859		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	17220339, 22796266, 25337902		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	20099281, 25337902, 25840420, 27456431, 30884202	Associate	★☆☆☆☆ Found in Text Mining only
Stomatitis	Stomatitis	BEFREE	27452984		★☆☆☆☆ Found in Text Mining only
Stomatitis	Stomatitis	Pubtator	27452984	Associate	★☆☆☆☆ Found in Text Mining only
T-Cell Lymphoma	T-Cell Lymphoma	BEFREE	18042267		★☆☆☆☆ Found in Text Mining only
Thrombophilia	Thrombophilia	BEFREE	22023244		★☆☆☆☆ Found in Text Mining only
Thyroiditis Autoimmune	Thyroiditis	Pubtator	23039890	Associate	★☆☆☆☆ Found in Text Mining only
Tourette Syndrome	Tourette syndrome	Pubtator	21618417	Associate	★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	BEFREE	18700049, 21947961		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	28348449	Associate	★☆☆☆☆ Found in Text Mining only
Urinary Tract Infections	Urinary tract infection	Pubtator	39303450	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	29740106	Associate	★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular Diseases	BEFREE	19348062		★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular disease	Pubtator	9501215	Associate	★☆☆☆☆ Found in Text Mining only
Ventricular Septal Defects	Ventricular septal defect	BEFREE	28758112, 29293099		★☆☆☆☆ Found in Text Mining only
Vitiligo	Vitiligo	BEFREE	30720153		★☆☆☆☆ Found in Text Mining only
Vitiligo	Vitiligo	Pubtator	30720153	Associate	★☆☆☆☆ Found in Text Mining only
VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding)	Vitiligo-associated SYSTEMIC LUPUS ERYTHEMATOSUS	BEFREE	30720153		★☆☆☆☆ Found in Text Mining only
Xanthomatosis Cerebrotendinous	Xanthomatosis	Pubtator	15612980	Associate	★☆☆☆☆ Found in Text Mining only
Xanthomatosis, Cerebrotendinous	Cholestanol storage disease	BEFREE	15612980		★☆☆☆☆ Found in Text Mining only
Xeroderma Pigmentosum, Complementation Group D	Xeroderma Pigmentosum	BEFREE	15093278		★☆☆☆☆ Found in Text Mining only