MTHFD1 (methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1)

Gene

• Entrez ID: 4522
• Gene name: Methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1
• Gene symbol: MTHFD1
• Synonyms (NCBI Gene): CIMAH, MTHFC, MTHFD
• Chromosome: 14
• Chromosome location: 14q23.3
• Summary: This gene encodes a protein that possesses three distinct enzymatic activities, 5,10-methylenetetrahydrofolate dehydrogenase, 5,10-methenyltetrahydrofolate cyclohydrolase and 10-formyltetrahydrofolate synthetase. Each of these activities catalyzes one of

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs2236225	G>A	Benign, risk-factor	Coding sequence variant, missense variant
rs34181110	G>A	Likely-benign, risk-factor	Coding sequence variant, missense variant
rs141210410	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs370444838	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs760889414	G>T	Pathogenic	Stop gained, coding sequence variant
rs781065280	G>A	Pathogenic	Splice donor variant
rs1329424461	C>T	Likely-pathogenic	Stop gained, coding sequence variant
rs1456143398	G>A	Pathogenic	Coding sequence variant, synonymous variant
rs1555336810	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1555337681	C>T	Likely-pathogenic	Coding sequence variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT016506	hsa-miR-193b-3p	Proteomics	21512034
MIRT052561	hsa-let-7a-5p	CLASH	23622248
MIRT050788	hsa-miR-17-3p	CLASH	23622248
MIRT044374	hsa-miR-106b-5p	CLASH	23622248
MIRT043098	hsa-miR-324-5p	CLASH	23622248
MIRT037507	hsa-miR-744-5p	CLASH	23622248
MIRT037267	hsa-miR-877-5p	CLASH	23622248
MIRT438747	hsa-miR-197-3p	Luciferase reporter assay, qRT-PCR, Western blot	24123340
MIRT438746	hsa-miR-9-5p	Luciferase reporter assay, qRT-PCR, Western blot	24123340
MIRT438747	hsa-miR-197-3p	Luciferase reporter assay, qRT-PCR, Western blot	24123340
MIRT438746	hsa-miR-9-5p	Luciferase reporter assay, qRT-PCR, Western blot	24123340
MIRT701737	hsa-miR-34b-3p	HITS-CLIP	23313552
MIRT701736	hsa-miR-4768-3p	HITS-CLIP	23313552
MIRT701735	hsa-miR-6840-3p	HITS-CLIP	23313552
MIRT701734	hsa-miR-377-5p	HITS-CLIP	23313552
MIRT701733	hsa-miR-6086	HITS-CLIP	23313552
MIRT532585	hsa-miR-6499-3p	HITS-CLIP	23313552
MIRT701732	hsa-miR-139-3p	HITS-CLIP	23313552
MIRT532584	hsa-miR-455-3p	HITS-CLIP	23313552
MIRT532583	hsa-miR-6516-5p	HITS-CLIP	23313552
MIRT701731	hsa-miR-1273e	HITS-CLIP	23313552
MIRT683168	hsa-miR-548a-5p	HITS-CLIP	23706177
MIRT683167	hsa-miR-548ab	HITS-CLIP	23706177
MIRT683166	hsa-miR-548ad-5p	HITS-CLIP	23706177
MIRT683165	hsa-miR-548ae-5p	HITS-CLIP	23706177
MIRT683164	hsa-miR-548ak	HITS-CLIP	23706177
MIRT683163	hsa-miR-548am-5p	HITS-CLIP	23706177
MIRT683162	hsa-miR-548ap-5p	HITS-CLIP	23706177
MIRT683161	hsa-miR-548aq-5p	HITS-CLIP	23706177
MIRT683160	hsa-miR-548ar-5p	HITS-CLIP	23706177
MIRT683159	hsa-miR-548as-5p	HITS-CLIP	23706177
MIRT683158	hsa-miR-548au-5p	HITS-CLIP	23706177
MIRT683157	hsa-miR-548ay-5p	HITS-CLIP	23706177
MIRT683156	hsa-miR-548b-5p	HITS-CLIP	23706177
MIRT683155	hsa-miR-548bb-5p	HITS-CLIP	23706177
MIRT683154	hsa-miR-548c-5p	HITS-CLIP	23706177
MIRT683153	hsa-miR-548d-5p	HITS-CLIP	23706177
MIRT683152	hsa-miR-548h-5p	HITS-CLIP	23706177
MIRT683151	hsa-miR-548i	HITS-CLIP	23706177
MIRT683150	hsa-miR-548j-5p	HITS-CLIP	23706177
MIRT683149	hsa-miR-548o-5p	HITS-CLIP	23706177
MIRT683148	hsa-miR-548w	HITS-CLIP	23706177
MIRT683147	hsa-miR-548y	HITS-CLIP	23706177
MIRT683146	hsa-miR-559	HITS-CLIP	23706177
MIRT683145	hsa-miR-548aj-5p	HITS-CLIP	23706177
MIRT683144	hsa-miR-548f-5p	HITS-CLIP	23706177
MIRT683143	hsa-miR-548g-5p	HITS-CLIP	23706177
MIRT683142	hsa-miR-548x-5p	HITS-CLIP	23706177
MIRT683141	hsa-miR-1468-3p	HITS-CLIP	23706177
MIRT683140	hsa-miR-19a-3p	HITS-CLIP	23706177
MIRT683139	hsa-miR-19b-3p	HITS-CLIP	23706177
MIRT443780	hsa-miR-203a-5p	HITS-CLIP	23706177
MIRT443779	hsa-miR-1273g-5p	HITS-CLIP	23706177
MIRT683138	hsa-miR-548aw	HITS-CLIP	23706177
MIRT443778	hsa-miR-2681-5p	HITS-CLIP	23706177
MIRT443777	hsa-miR-548ag	HITS-CLIP	23706177
MIRT683137	hsa-miR-548q	HITS-CLIP	23706177
MIRT627069	hsa-miR-3713	HITS-CLIP	23824327
MIRT627068	hsa-miR-6867-5p	HITS-CLIP	23824327
MIRT627067	hsa-miR-4455	HITS-CLIP	23824327
MIRT627066	hsa-miR-574-5p	HITS-CLIP	23824327
MIRT532589	hsa-miR-4999-3p	PAR-CLIP	22012620
MIRT532588	hsa-miR-3160-3p	PAR-CLIP	22012620
MIRT532587	hsa-miR-558	PAR-CLIP	22012620
MIRT532586	hsa-miR-4487	PAR-CLIP	22012620
MIRT532585	hsa-miR-6499-3p	PAR-CLIP	22012620
MIRT532584	hsa-miR-455-3p	PAR-CLIP	22012620
MIRT532583	hsa-miR-6516-5p	PAR-CLIP	22012620
MIRT443781	hsa-miR-4714-3p	PAR-CLIP	22100165
MIRT443780	hsa-miR-203a-5p	PAR-CLIP	22100165
MIRT443779	hsa-miR-1273g-5p	PAR-CLIP	22100165
MIRT443778	hsa-miR-2681-5p	PAR-CLIP	22100165
MIRT443777	hsa-miR-548ag	PAR-CLIP	22100165
MIRT701731	hsa-miR-1273e	PAR-CLIP	27292025
MIRT701732	hsa-miR-139-3p	PAR-CLIP	27292025
MIRT701734	hsa-miR-377-5p	PAR-CLIP	27292025
MIRT701736	hsa-miR-4768-3p	PAR-CLIP	27292025
MIRT701733	hsa-miR-6086	PAR-CLIP	27292025
MIRT701735	hsa-miR-6840-3p	PAR-CLIP	27292025
MIRT701737	hsa-miR-34b-3p	HITS-CLIP	23313552
MIRT701736	hsa-miR-4768-3p	HITS-CLIP	23313552
MIRT701735	hsa-miR-6840-3p	HITS-CLIP	23313552
MIRT701734	hsa-miR-377-5p	HITS-CLIP	23313552
MIRT701733	hsa-miR-6086	HITS-CLIP	23313552
MIRT532585	hsa-miR-6499-3p	HITS-CLIP	23313552
MIRT701732	hsa-miR-139-3p	HITS-CLIP	23313552
MIRT532584	hsa-miR-455-3p	HITS-CLIP	23313552
MIRT532583	hsa-miR-6516-5p	HITS-CLIP	23313552
MIRT701731	hsa-miR-1273e	HITS-CLIP	23313552
MIRT683168	hsa-miR-548a-5p	HITS-CLIP	23706177
MIRT683167	hsa-miR-548ab	HITS-CLIP	23706177
MIRT683166	hsa-miR-548ad-5p	HITS-CLIP	23706177
MIRT683165	hsa-miR-548ae-5p	HITS-CLIP	23706177
MIRT683164	hsa-miR-548ak	HITS-CLIP	23706177
MIRT683163	hsa-miR-548am-5p	HITS-CLIP	23706177
MIRT683162	hsa-miR-548ap-5p	HITS-CLIP	23706177
MIRT683161	hsa-miR-548aq-5p	HITS-CLIP	23706177
MIRT683160	hsa-miR-548ar-5p	HITS-CLIP	23706177
MIRT683159	hsa-miR-548as-5p	HITS-CLIP	23706177
MIRT683158	hsa-miR-548au-5p	HITS-CLIP	23706177
MIRT683157	hsa-miR-548ay-5p	HITS-CLIP	23706177
MIRT683156	hsa-miR-548b-5p	HITS-CLIP	23706177
MIRT683155	hsa-miR-548bb-5p	HITS-CLIP	23706177
MIRT683154	hsa-miR-548c-5p	HITS-CLIP	23706177
MIRT683153	hsa-miR-548d-5p	HITS-CLIP	23706177
MIRT683152	hsa-miR-548h-5p	HITS-CLIP	23706177
MIRT683151	hsa-miR-548i	HITS-CLIP	23706177
MIRT683150	hsa-miR-548j-5p	HITS-CLIP	23706177
MIRT683149	hsa-miR-548o-5p	HITS-CLIP	23706177
MIRT683148	hsa-miR-548w	HITS-CLIP	23706177
MIRT683147	hsa-miR-548y	HITS-CLIP	23706177
MIRT683146	hsa-miR-559	HITS-CLIP	23706177
MIRT683145	hsa-miR-548aj-5p	HITS-CLIP	23706177
MIRT683144	hsa-miR-548f-5p	HITS-CLIP	23706177
MIRT683143	hsa-miR-548g-5p	HITS-CLIP	23706177
MIRT683142	hsa-miR-548x-5p	HITS-CLIP	23706177
MIRT683141	hsa-miR-1468-3p	HITS-CLIP	23706177
MIRT683140	hsa-miR-19a-3p	HITS-CLIP	23706177
MIRT683139	hsa-miR-19b-3p	HITS-CLIP	23706177
MIRT443780	hsa-miR-203a-5p	HITS-CLIP	23706177
MIRT443779	hsa-miR-1273g-5p	HITS-CLIP	23706177
MIRT683138	hsa-miR-548aw	HITS-CLIP	23706177
MIRT443778	hsa-miR-2681-5p	HITS-CLIP	23706177
MIRT443777	hsa-miR-548ag	HITS-CLIP	23706177
MIRT683137	hsa-miR-548q	HITS-CLIP	23706177
MIRT627069	hsa-miR-3713	HITS-CLIP	23824327
MIRT627068	hsa-miR-6867-5p	HITS-CLIP	23824327
MIRT627067	hsa-miR-4455	HITS-CLIP	23824327
MIRT627066	hsa-miR-574-5p	HITS-CLIP	23824327
MIRT532589	hsa-miR-4999-3p	PAR-CLIP	22012620
MIRT532588	hsa-miR-3160-3p	PAR-CLIP	22012620
MIRT532587	hsa-miR-558	PAR-CLIP	22012620
MIRT532586	hsa-miR-4487	PAR-CLIP	22012620
MIRT532585	hsa-miR-6499-3p	PAR-CLIP	22012620
MIRT532584	hsa-miR-455-3p	PAR-CLIP	22012620
MIRT532583	hsa-miR-6516-5p	PAR-CLIP	22012620
MIRT443781	hsa-miR-4714-3p	PAR-CLIP	22100165
MIRT443780	hsa-miR-203a-5p	PAR-CLIP	22100165
MIRT443779	hsa-miR-1273g-5p	PAR-CLIP	22100165
MIRT443778	hsa-miR-2681-5p	PAR-CLIP	22100165
MIRT443777	hsa-miR-548ag	PAR-CLIP	22100165
MIRT1163110	hsa-miR-1207-5p	CLIP-seq
MIRT1163111	hsa-miR-1272	CLIP-seq
MIRT1163112	hsa-miR-1285	CLIP-seq
MIRT1163113	hsa-miR-1909	CLIP-seq
MIRT1163114	hsa-miR-193a-3p	CLIP-seq
MIRT1163115	hsa-miR-193b	CLIP-seq
MIRT1163116	hsa-miR-2053	CLIP-seq
MIRT1163117	hsa-miR-2110	CLIP-seq
MIRT1163118	hsa-miR-2861	CLIP-seq
MIRT1163119	hsa-miR-30a	CLIP-seq
MIRT1163120	hsa-miR-30b	CLIP-seq
MIRT1163121	hsa-miR-30c	CLIP-seq
MIRT1163122	hsa-miR-30d	CLIP-seq
MIRT1163123	hsa-miR-30e	CLIP-seq
MIRT1163124	hsa-miR-3134	CLIP-seq
MIRT1163125	hsa-miR-3182	CLIP-seq
MIRT1163126	hsa-miR-3190	CLIP-seq
MIRT1163127	hsa-miR-3662	CLIP-seq
MIRT1163128	hsa-miR-3942-3p	CLIP-seq
MIRT1163129	hsa-miR-3973	CLIP-seq
MIRT1163130	hsa-miR-4271	CLIP-seq
MIRT1163131	hsa-miR-4314	CLIP-seq
MIRT1163132	hsa-miR-4426	CLIP-seq
MIRT1163133	hsa-miR-4427	CLIP-seq
MIRT1163134	hsa-miR-4435	CLIP-seq
MIRT1163135	hsa-miR-4470	CLIP-seq
MIRT1163136	hsa-miR-4635	CLIP-seq
MIRT1163137	hsa-miR-4647	CLIP-seq
MIRT1163138	hsa-miR-4656	CLIP-seq
MIRT1163139	hsa-miR-4662b	CLIP-seq
MIRT1163140	hsa-miR-4667-5p	CLIP-seq
MIRT1163141	hsa-miR-4699-5p	CLIP-seq
MIRT1163142	hsa-miR-4700-5p	CLIP-seq
MIRT1163143	hsa-miR-4709-3p	CLIP-seq
MIRT1163144	hsa-miR-4725-3p	CLIP-seq
MIRT1163145	hsa-miR-4753-3p	CLIP-seq
MIRT1163146	hsa-miR-4763-3p	CLIP-seq
MIRT1163147	hsa-miR-4764-3p	CLIP-seq
MIRT1163148	hsa-miR-4775	CLIP-seq
MIRT1163149	hsa-miR-4778-5p	CLIP-seq
MIRT1163150	hsa-miR-4789-5p	CLIP-seq
MIRT1163151	hsa-miR-499a-5p	CLIP-seq
MIRT1163152	hsa-miR-520g	CLIP-seq
MIRT1163153	hsa-miR-520h	CLIP-seq
MIRT1163154	hsa-miR-526b	CLIP-seq
MIRT1163155	hsa-miR-548h	CLIP-seq
MIRT1163156	hsa-miR-548j	CLIP-seq
MIRT1163157	hsa-miR-548k	CLIP-seq
MIRT1163158	hsa-miR-548l	CLIP-seq
MIRT1163159	hsa-miR-562	CLIP-seq
MIRT1163160	hsa-miR-569	CLIP-seq
MIRT1163161	hsa-miR-607	CLIP-seq
MIRT1163162	hsa-miR-617	CLIP-seq
MIRT1163163	hsa-miR-637	CLIP-seq
MIRT1163164	hsa-miR-942	CLIP-seq
MIRT2046856	hsa-miR-1193	CLIP-seq
MIRT1163110	hsa-miR-1207-5p	CLIP-seq
MIRT1163111	hsa-miR-1272	CLIP-seq
MIRT1163112	hsa-miR-1285	CLIP-seq
MIRT1163113	hsa-miR-1909	CLIP-seq
MIRT1163114	hsa-miR-193a-3p	CLIP-seq
MIRT1163115	hsa-miR-193b	CLIP-seq
MIRT1163116	hsa-miR-2053	CLIP-seq
MIRT1163117	hsa-miR-2110	CLIP-seq
MIRT1163118	hsa-miR-2861	CLIP-seq
MIRT1163119	hsa-miR-30a	CLIP-seq
MIRT1163120	hsa-miR-30b	CLIP-seq
MIRT1163121	hsa-miR-30c	CLIP-seq
MIRT1163122	hsa-miR-30d	CLIP-seq
MIRT1163123	hsa-miR-30e	CLIP-seq
MIRT1163124	hsa-miR-3134	CLIP-seq
MIRT1163125	hsa-miR-3182	CLIP-seq
MIRT1163126	hsa-miR-3190	CLIP-seq
MIRT2046857	hsa-miR-3647-3p	CLIP-seq
MIRT1163127	hsa-miR-3662	CLIP-seq
MIRT2046858	hsa-miR-3929	CLIP-seq
MIRT1163128	hsa-miR-3942-3p	CLIP-seq
MIRT1163129	hsa-miR-3973	CLIP-seq
MIRT1163130	hsa-miR-4271	CLIP-seq
MIRT1163131	hsa-miR-4314	CLIP-seq
MIRT2046859	hsa-miR-4419b	CLIP-seq
MIRT1163132	hsa-miR-4426	CLIP-seq
MIRT1163133	hsa-miR-4427	CLIP-seq
MIRT1163134	hsa-miR-4435	CLIP-seq
MIRT2046860	hsa-miR-4478	CLIP-seq
MIRT1163136	hsa-miR-4635	CLIP-seq
MIRT1163137	hsa-miR-4647	CLIP-seq
MIRT1163138	hsa-miR-4656	CLIP-seq
MIRT1163139	hsa-miR-4662b	CLIP-seq
MIRT1163140	hsa-miR-4667-5p	CLIP-seq
MIRT1163141	hsa-miR-4699-5p	CLIP-seq
MIRT1163142	hsa-miR-4700-5p	CLIP-seq
MIRT1163143	hsa-miR-4709-3p	CLIP-seq
MIRT1163144	hsa-miR-4725-3p	CLIP-seq
MIRT1163145	hsa-miR-4753-3p	CLIP-seq
MIRT1163146	hsa-miR-4763-3p	CLIP-seq
MIRT1163148	hsa-miR-4775	CLIP-seq
MIRT1163149	hsa-miR-4778-5p	CLIP-seq
MIRT1163150	hsa-miR-4789-5p	CLIP-seq
MIRT1163151	hsa-miR-499a-5p	CLIP-seq
MIRT1163152	hsa-miR-520g	CLIP-seq
MIRT1163153	hsa-miR-520h	CLIP-seq
MIRT1163154	hsa-miR-526b	CLIP-seq
MIRT1163155	hsa-miR-548h	CLIP-seq
MIRT1163156	hsa-miR-548j	CLIP-seq
MIRT1163157	hsa-miR-548k	CLIP-seq
MIRT1163158	hsa-miR-548l	CLIP-seq
MIRT1163159	hsa-miR-562	CLIP-seq
MIRT1163160	hsa-miR-569	CLIP-seq
MIRT2046861	hsa-miR-580	CLIP-seq
MIRT1163161	hsa-miR-607	CLIP-seq
MIRT1163162	hsa-miR-617	CLIP-seq
MIRT1163163	hsa-miR-637	CLIP-seq
MIRT1163164	hsa-miR-942	CLIP-seq
MIRT1163110	hsa-miR-1207-5p	CLIP-seq
MIRT1163111	hsa-miR-1272	CLIP-seq
MIRT1163112	hsa-miR-1285	CLIP-seq
MIRT1163113	hsa-miR-1909	CLIP-seq
MIRT1163114	hsa-miR-193a-3p	CLIP-seq
MIRT1163115	hsa-miR-193b	CLIP-seq
MIRT1163116	hsa-miR-2053	CLIP-seq
MIRT1163119	hsa-miR-30a	CLIP-seq
MIRT1163120	hsa-miR-30b	CLIP-seq
MIRT1163121	hsa-miR-30c	CLIP-seq
MIRT1163122	hsa-miR-30d	CLIP-seq
MIRT1163123	hsa-miR-30e	CLIP-seq
MIRT1163124	hsa-miR-3134	CLIP-seq
MIRT1163125	hsa-miR-3182	CLIP-seq
MIRT1163126	hsa-miR-3190	CLIP-seq
MIRT2046858	hsa-miR-3929	CLIP-seq
MIRT1163129	hsa-miR-3973	CLIP-seq
MIRT1163131	hsa-miR-4314	CLIP-seq
MIRT2046859	hsa-miR-4419b	CLIP-seq
MIRT1163132	hsa-miR-4426	CLIP-seq
MIRT1163134	hsa-miR-4435	CLIP-seq
MIRT2046860	hsa-miR-4478	CLIP-seq
MIRT1163136	hsa-miR-4635	CLIP-seq
MIRT1163137	hsa-miR-4647	CLIP-seq
MIRT1163138	hsa-miR-4656	CLIP-seq
MIRT1163139	hsa-miR-4662b	CLIP-seq
MIRT1163141	hsa-miR-4699-5p	CLIP-seq
MIRT1163143	hsa-miR-4709-3p	CLIP-seq
MIRT1163146	hsa-miR-4763-3p	CLIP-seq
MIRT1163148	hsa-miR-4775	CLIP-seq
MIRT1163149	hsa-miR-4778-5p	CLIP-seq
MIRT1163150	hsa-miR-4789-5p	CLIP-seq
MIRT1163151	hsa-miR-499a-5p	CLIP-seq
MIRT1163152	hsa-miR-520g	CLIP-seq
MIRT1163153	hsa-miR-520h	CLIP-seq
MIRT1163154	hsa-miR-526b	CLIP-seq
MIRT1163155	hsa-miR-548h	CLIP-seq
MIRT1163156	hsa-miR-548j	CLIP-seq
MIRT1163157	hsa-miR-548k	CLIP-seq
MIRT1163158	hsa-miR-548l	CLIP-seq
MIRT1163159	hsa-miR-562	CLIP-seq
MIRT1163160	hsa-miR-569	CLIP-seq
MIRT2046861	hsa-miR-580	CLIP-seq
MIRT1163161	hsa-miR-607	CLIP-seq
MIRT1163162	hsa-miR-617	CLIP-seq
MIRT1163116	hsa-miR-2053	CLIP-seq
MIRT1163148	hsa-miR-4775	CLIP-seq
MIRT1163160	hsa-miR-569	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0001780	Process	Neutrophil homeostasis	IEA
GO:0001843	Process	Neural tube closure	IEA
GO:0001843	Process	Neural tube closure	ISS
GO:0003824	Function	Catalytic activity	IEA
GO:0004329	Function	Formate-tetrahydrofolate ligase activity	IDA	1881876, 18767138
GO:0004329	Function	Formate-tetrahydrofolate ligase activity	IEA
GO:0004329	Function	Formate-tetrahydrofolate ligase activity	IMP	25633902
GO:0004329	Function	Formate-tetrahydrofolate ligase activity	ISS
GO:0004477	Function	Methenyltetrahydrofolate cyclohydrolase activity	IBA
GO:0004477	Function	Methenyltetrahydrofolate cyclohydrolase activity	IDA	1881876, 10828945
GO:0004477	Function	Methenyltetrahydrofolate cyclohydrolase activity	IEA
GO:0004487	Function	Methylenetetrahydrofolate dehydrogenase (NAD+) activity	IEA
GO:0004488	Function	Methylenetetrahydrofolate dehydrogenase (NADP+) activity	IBA
GO:0004488	Function	Methylenetetrahydrofolate dehydrogenase (NADP+) activity	IDA	1881876, 10828945, 18767138
GO:0004488	Function	Methylenetetrahydrofolate dehydrogenase (NADP+) activity	IEA
GO:0005515	Function	Protein binding	IPI	24169621
GO:0005524	Function	ATP binding	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005739	Component	Mitochondrion	TAS	3528153
GO:0005829	Component	Cytosol	IBA
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0006164	Process	Purine nucleotide biosynthetic process	IEA
GO:0006164	Process	Purine nucleotide biosynthetic process	IMP	18767138
GO:0006164	Process	Purine nucleotide biosynthetic process	ISS
GO:0006555	Process	Methionine metabolic process	IEA
GO:0006555	Process	Methionine metabolic process	IEA
GO:0006555	Process	Methionine metabolic process	ISS
GO:0006730	Process	One-carbon metabolic process	IEA
GO:0007507	Process	Heart development	IEA
GO:0007507	Process	Heart development	ISS
GO:0009069	Process	Serine family amino acid metabolic process	IEA
GO:0009086	Process	Methionine biosynthetic process	IMP	25633902
GO:0009152	Process	Purine ribonucleotide biosynthetic process	IEA
GO:0009257	Process	10-formyltetrahydrofolate biosynthetic process	IDA	1881876
GO:0009257	Process	10-formyltetrahydrofolate biosynthetic process	IEA
GO:0009257	Process	10-formyltetrahydrofolate biosynthetic process	ISS
GO:0016020	Component	Membrane	HDA	19946888
GO:0016491	Function	Oxidoreductase activity	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0016874	Function	Ligase activity	IEA
GO:0019346	Process	Transsulfuration	IEA
GO:0035999	Process	Tetrahydrofolate interconversion	IBA
GO:0035999	Process	Tetrahydrofolate interconversion	IDA	1881876, 10828945
GO:0035999	Process	Tetrahydrofolate interconversion	IEA
GO:0035999	Process	Tetrahydrofolate interconversion	ISS
GO:0046655	Process	Folic acid metabolic process	IEA
GO:0046655	Process	Folic acid metabolic process	IMP	25633902
GO:0046655	Process	Folic acid metabolic process	ISS
GO:0048702	Process	Embryonic neurocranium morphogenesis	ISS
GO:0048703	Process	Embryonic viscerocranium morphogenesis	ISS
GO:0061053	Process	Somite development	IEA
GO:0061053	Process	Somite development	ISS
GO:0070062	Component	Extracellular exosome	HDA	19056867, 20458337, 23533145

Other IDs

• MIM: 172460
• HGNC: 7432
• e!Ensembl: ENSG00000100714

Protein

• UniProt ID: P11586
• Protein name: C-1-tetrahydrofolate synthase, cytoplasmic (C1-THF synthase) (Epididymis secretory sperm binding protein) [Cleaved into: C-1-tetrahydrofolate synthase, cytoplasmic, N-terminally processed] [Includes: Methylenetetrahydrofolate dehydrogenase (EC 1.5.1.5); M
• Protein function: Trifunctional enzyme that catalyzes the interconversion of three forms of one-carbon-substituted tetrahydrofolate: (6R)-5,10-methylene-5,6,7,8-tetrahydrofolate, 5,10-methenyltetrahydrofolate and (6S)-10-formyltetrahydrofolate (PubMed:10828945, P
• PDB: 1A4I, 1DIA, 1DIB, 1DIG, 6ECP, 6ECQ, 6ECR, 9ISE, 9ISL, 9ISR, 9ITD, 9IUO
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00763	THF_DHG_CYH	6 → 125	Tetrahydrofolate dehydrogenase/cyclohydrolase, catalytic domain	Domain
  PF02882	THF_DHG_CYH_C	128 → 295	Tetrahydrofolate dehydrogenase/cyclohydrolase, NAD(P)-binding domain	Domain
  PF01268	FTHFS	317 → 935	Formate--tetrahydrofolate ligase	Family

• Tissue specificity: TISSUE SPECIFICITY: Ubiquitous.
• Sequence:

  MAPAEILNGKEISAQIRARLKNQVTQLKEQVPGFTPRLAILQVGNRDDSNLYINVKLKAA
  EEIGIKATHIKLPRTTTESEVMKYITSLNEDSTVHGFLVQLPLDSENSINTEEVINAIAP
  EKDVDGLTSINAGRLARGDLNDCFIPCTPKGCLELIKETGVPIAGRHAVVVGRSKIVGAP
  MHDLLLWNNATVTTCHSKTAHLDEEVNKGDILVVATGQPEMVKGEWIKPGAIVIDCGINY
  VPDDKKPNGRKVVGDVAYDEAKERASFITPVPGGVGPMTVAMLMQSTVESAKRFLEKFKP
  GKWMIQYNNLNLKTPVPSDIDISRSCKPKPIGKLAREIGLLSEEVELYGETKAKVLLSAL
  ERLKHRPDGKYVVVTGITPTPLGEGKSTTTIGLVQALGAHLYQNVFACVRQPSQGPTFGI
  KGGAAGGGYSQVIPMEEFNLHLTGDIHAITAANNLVAAAIDARIFHELTQTDKALFNRLV
  PSVNGVRRFSDIQIRRLKRLGIEKTDPTTLTDEEINRFARLDIDPETITWQRVLDTNDRF
  LRKITIGQAPTEKGHTRTAQFDISVASEIMAVLALTTSLEDMRERLGKMVVASSKKGEPV
  SAEDLGVSGALTVLMKDAIKPNLMQTLEGTPVFVHAGPFANIAHGNSSIIADRIALKLVG
  PEGFVVTEAGFGADIGMEKFFNIKCRYSGLCPHVVVLVATVRALKMHGGGPTVTAGLPLP
  KAYIQENLELVEKGFSNLKKQIENARMFGIPVVVAVNAFKTDTESELDLISRLSREHGAF
  DAVKCTHWAEGGKGALALAQAVQRAAQAPSSFQLLYDLKLPVEDKIRIIAQKIYGADDIE
  LLPEAQHKAEVYTKQGFGNLPICMAKTHLSLSHNPEQKGVPTGFILPIRDIRASVGAGFL
  YPLVGTMSTMPGLPTRPCFYDIDLDPETEQVNGLF

• Sequence length: 935

Pathways

KEGG:

One carbon pool by folate
Metabolic pathways
Biosynthesis of cofactors
Folate transport and metabolism

Reactome:

Metabolism of folate and pterines

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
Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia	Pathogenic; Likely pathogenic	rs796064510, rs999121868, rs747933171, rs781065280, rs1555337681, rs1456143398, rs370444838, rs760889414, rs1555336810, rs1329424461	RCV001252952 RCV003140606 RCV005003684 RCV000515542 RCV000515549 RCV000515544 RCV000515546 RCV000515548 RCV000515547 RCV005010554	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Neural tube defects, folate-sensitive	Likely pathogenic; Pathogenic	rs747933171, rs781065280, rs370444838, rs1329424461	RCV005003684 RCV005010466 RCV005004206 RCV005010554	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Severe combined immunodeficiency disease	Likely pathogenic; Pathogenic	rs920392170, rs2140987866, rs2550508430, rs146862861, rs370444838	RCV002266422 RCV002266423 RCV002510474 RCV003226773 RCV001797742	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Adrenocortical carcinoma, hereditary	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIAC VALVULAR DYSPLASIA 1	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CLEFT PALATE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CLEFT UPPER LIP	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMBINED IMMUNODEFICIENCY-MEGALOBLASTIC ANEMIA DUE TO METHYLENETETRAHYDROFOLATE DEHYDROGENASE 1 DEFICIENCY	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMPLETE UNILATERAL CLEFT LIP	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DOWN SYNDROME	—	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	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPOTHYROIDISM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MTHFD1-related disorder	Benign; Likely benign; Uncertain significance	ClinVar	★★☆☆☆ 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	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURAL TUBE DEFECTS X-LINKED	—	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	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Uncertain significance; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEVERE COMBINED IMMUNODEFICIENCY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spina bifida, folate-sensitive, susceptibility to	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TETRALOGY OF FALLOT	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Uncertain significance; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acrania	Acrania	CTD_human_DG	12384833, 16552426		★☆☆☆☆ Found in Text Mining only
Acute leukemia	Leukemia	BEFREE	31452789		★☆☆☆☆ Found in Text Mining only
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	23894459		★☆☆☆☆ Found in Text Mining only
Adult Acute Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	23894459		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	17691219	Associate	★☆☆☆☆ Found in Text Mining only
Anemia Megaloblastic	Megaloblastic anemia	Pubtator	25548164	Associate	★☆☆☆☆ Found in Text Mining only
Anemia, Megaloblastic	Anemia	BEFREE	25548164, 27707659		★☆☆☆☆ Found in Text Mining only
Anemia, Megaloblastic	Anemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Anencephaly	Anencephaly	BEFREE	26394717		★☆☆☆☆ Found in Text Mining only
Anencephaly	Anencephaly	Pubtator	26394717	Associate	★☆☆☆☆ Found in Text Mining only
Angina Stable	Angina pectoris	Pubtator	26803590	Associate	★☆☆☆☆ Found in Text Mining only
Anterior encephalocele	Encephalocele	BEFREE	28398708		★☆☆☆☆ Found in Text Mining only
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
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	27770044	Associate	★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	BEFREE	28250422		★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	BEFREE	21360829		★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	Pubtator	21360829	Associate	★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	30343310		★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar Disorder	BEFREE	17417062		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar Disorder	PSYGENET_DG	17417062		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Carcinoma	Breast Carcinoma	BEFREE	21105050, 23296054		★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	30343310	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	30482855	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	17533396, 30343310		★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	30459299	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	24287951		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	26803590	Associate	★☆☆☆☆ Found in Text Mining only
Cervical spina bifida aperta	Cervical spina bifida aperta	Orphanet			★☆☆☆☆ Found in Text Mining only
Cervical spina bifida cystica	Cervical spina bifida cystica	Orphanet			★☆☆☆☆ Found in Text Mining only
Cervicothoracic spina bifida aperta	Cervicothoracic Spina Bifida	Orphanet			★☆☆☆☆ Found in Text Mining only
Cervicothoracic spina bifida cystica	Cervicothoracic Spina Bifida	Orphanet			★☆☆☆☆ Found in Text Mining only
Childhood Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	BEFREE	14647408, 22074251, 23894459, 23940529		★☆☆☆☆ 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	18661527	Associate	★☆☆☆☆ Found in Text Mining only
Cleft Lip with or without Cleft Palate	Cleft Lip With Or Without Cleft Palate	BEFREE	18661527		★☆☆☆☆ Found in Text Mining only
Cleft Palate	Cleft palate	Pubtator	31262291	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon Carcinoma	Colon Carcinoma	BEFREE	23894459, 28968444		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	15122597, 23893618, 26108676		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	26108676, 28968444	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	BEFREE	27597531		★☆☆☆☆ Found in Text Mining only
Combined immunodeficiency	Severe combined immunodeficiency disease	BEFREE	27707659		★☆☆☆☆ Found in Text Mining only
COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA	Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	UNIPROT_DG	21813566, 25633902, 27707659		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA	Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	CLINVAR_DG	21813566, 25633902, 27707659		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA	Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	GENOMICS_ENGLAND_DG	25633902		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Common Migraine	Common Migraine	BEFREE	25039261		★☆☆☆☆ Found in Text Mining only
Congenital Heart Defects	Congenital heart defects	BEFREE	18767138, 23704330		★☆☆☆☆ Found in Text Mining only
Conotruncal cardiac defects	Conotruncal cardiac defect	Pubtator	19493349, 22495907	Associate	★☆☆☆☆ Found in Text Mining only
Conotruncal cardiac defects	Conotruncal cardiac defect	Pubtator	22495907	Stimulate	★☆☆☆☆ Found in Text Mining only
Conotruncal defect	Conotruncal defect	BEFREE	22495907, 22868813		★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	30459299		★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	23701284		★☆☆☆☆ Found in Text Mining only
Craniorachischisis	Craniorachischisis	CTD_human_DG	12384833, 16552426		★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	26926881		★☆☆☆☆ Found in Text Mining only
Depressive Disorder	Major depressive disorder	Pubtator	26926881, 37628752	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	32238907	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	25074646, 25099943		★☆☆☆☆ Found in Text Mining only
Diastematomyelia	Diastematomyelia	CTD_human_DG	12384833, 16552426		★☆☆☆☆ Found in Text Mining only
DiGeorge Syndrome	Digeorge syndrome	Pubtator	29713328	Associate	★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down Syndrome	BEFREE	22339736, 25544792, 25671679		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Down Syndrome	Down syndrome	Pubtator	24668664	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dysmorphism	Dysmorphism	BEFREE	29659962		★☆☆☆☆ Found in Text Mining only
Eczema	Eczema	HPO_DG			★☆☆☆☆ Found in Text Mining only
Encephalocele	Encephalocele	Pubtator	26394717	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	21543238		★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	21543238	Associate	★☆☆☆☆ Found in Text Mining only
Esophageal carcinoma	Esophageal Carcinoma	BEFREE	29171320		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophagus Neoplasm	BEFREE	29171320		★☆☆☆☆ Found in Text Mining only
Essential Hypertension	Hypertension	BEFREE	30183434		★☆☆☆☆ Found in Text Mining only
Essential Hypertension	Hypertension	Pubtator	30183434	Associate	★☆☆☆☆ Found in Text Mining only
Exencephaly	Anencephaly	CTD_human_DG	12384833, 16552426		★☆☆☆☆ Found in Text Mining only
Exfoliation Syndrome	Exfoliation Syndrome	BEFREE	28299500		★☆☆☆☆ Found in Text Mining only
Familial Alzheimer Disease (FAD)	Alzheimer disease	BEFREE	8053655		★☆☆☆☆ Found in Text Mining only
Folate Malabsorption Hereditary	Hereditary folate malabsorption	Pubtator	26561410	Associate	★☆☆☆☆ Found in Text Mining only
Folic Acid Deficiency	Folic Acid Deficiency	BEFREE	26299783		★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	BEFREE	19112534		★☆☆☆☆ Found in Text Mining only
Head and Neck Neoplasms	Head and neck neoplasm	Pubtator	21537707	Associate	★☆☆☆☆ Found in Text Mining only
Heart Defects Congenital	Congenital heart defect	Pubtator	28865601, 35100977, 37630697	Associate	★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	30183434, 33382484	Associate	★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	30183434		★☆☆☆☆ Found in Text Mining only
Immune System Diseases	Immune System Diseases	BEFREE	27707659		★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	BEFREE	30761552		★☆☆☆☆ Found in Text Mining only
Inborn Errors of Metabolism	Inborn Errors Of Metabolism	BEFREE	25548164		★☆☆☆☆ Found in Text Mining only
Infertility Male	Male infertility	Pubtator	30882176	Associate	★☆☆☆☆ Found in Text Mining only
Iniencephaly	Anencephaly	CTD_human_DG	12384833, 16552426		★☆☆☆☆ Found in Text Mining only
Learning Disabilities	Learning disorders	Pubtator	21360829	Associate	★☆☆☆☆ Found in Text Mining only
Leukopenia	Leukopenia	BEFREE	22074251		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	30997850		★☆☆☆☆ Found in Text Mining only
Lumbosacral spina bifida aperta	Lumbosacral Spina Bifida Aperta	Orphanet			★☆☆☆☆ Found in Text Mining only
Lumbosacral spina bifida cystica	Lumbosacral Spina Bifida Cystica	Orphanet			★☆☆☆☆ Found in Text Mining only
Lymphoma, Non-Hodgkin	Non-Hodgkin lymphoma	BEFREE	21055808		★☆☆☆☆ Found in Text Mining only
Lymphopenia	Lymphopenia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	21105050, 23296054		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of esophagus	Esophagus Neoplasm	BEFREE	29171320		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	17533396, 30343310		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	24287951		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	24197977		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	23894459, 28265077, 28968444, 31133746, 31377316		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	23894459, 28968444		★☆☆☆☆ Found in Text Mining only
Meningomyelocele	Meningomyelocele	BEFREE	26250961		★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	26926881		★☆☆☆☆ Found in Text Mining only
Migraine Disorders	Migraine	BEFREE	15953655, 25039261		★☆☆☆☆ Found in Text Mining only
Migraine with Aura	Migraine with Aura	BEFREE	25039261		★☆☆☆☆ Found in Text Mining only
Mild Mental Retardation	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Miscarriage	Miscarriage	BEFREE	23685927		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	26803590		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial infarction	Pubtator	26803590	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	19501504, 21055808, 22392251, 27597531, 30343310		★☆☆☆☆ Found in Text Mining only
Neural tube defect, folate-sensitive	Neural Tube Defect	UNIPROT_DG	12384833, 16552426, 9611072		★★☆☆☆ 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 defect, folate-sensitive	Neural Tube Defect	GENOMICS_ENGLAND_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neural Tube Defects	Neural Tube Defect	BEFREE	11320527, 12384833, 16315005, 16552426, 18767138, 19130090, 19777576, 22856873, 23704330, 24977710, 25502174, 25524527, 26343515, 26394717, 29392422, 30867013, 9611072		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neural Tube Defects	Neural Tube Defect	CTD_human_DG	12384833, 16552426		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neural Tube Defects	Neural tube defect	Pubtator	12384833, 19130090, 19777576, 22903727, 26343515, 26394717, 30867013	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neural Tube Defects	Neural Tube Defect	LHGDN	16315005		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neurenteric Cyst	Neurenteric Cyst	CTD_human_DG	12384833, 16552426		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	20737570, 30343310		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	24368157		★☆☆☆☆ Found in Text Mining only
Orofacial Cleft 1	Orofacial cleft	Pubtator	25129243	Associate	★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	21887680	Associate	★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	24287951		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	37628752	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	37347667	Associate	★☆☆☆☆ Found in Text Mining only
Pancytopenia	Pancytopenia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	17691219		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	17691219	Associate	★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	24197977		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	17417062, 21360829		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	LHGDN	17417062		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	PSYGENET_DG	17417062		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	Pubtator	21360829	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Severe Combined Immunodeficiency	Severe combined immunodeficiency disease	BEFREE	25633902, 27707659		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Severe Combined Immunodeficiency	Severe combined immunodeficiency	Pubtator	29713328	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Severe Combined Immunodeficiency	Severe combined immunodeficiency disease	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Small cell carcinoma of lung	Lung carcinoma	BEFREE	17533396		★☆☆☆☆ Found in Text Mining only
Spina Bifida	Spina Bifida	BEFREE	19493349, 26394717		★☆☆☆☆ Found in Text Mining only
Spina Bifida	Spina Bifida	HPO_DG			★☆☆☆☆ Found in Text Mining only
Spina bifida aperta of cervical spine	Spina Bifida	ORPHANET_DG	16552426		★☆☆☆☆ Found in Text Mining only
Spinal Cord Myelodysplasia	Spinal Cord Myelodysplasia	CTD_human_DG	12384833, 16552426		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	22051736		★☆☆☆☆ Found in Text Mining only
Stable angina	Stable Angina	BEFREE	26803590		★☆☆☆☆ Found in Text Mining only
Stroke	Stroke	Pubtator	33382484	Inhibit	★☆☆☆☆ Found in Text Mining only
Tethered Cord Syndrome	Primary Tethered cord syndrome	CTD_human_DG	12384833, 16552426		★☆☆☆☆ Found in Text Mining only
Thoracolumbosacral spina bifida aperta	Thoracolumbosacral spina bifida aperta	Orphanet			★☆☆☆☆ Found in Text Mining only
Thoracolumbosacral spina bifida cystica	Thoracolumbosacral spina bifida cystica	Orphanet			★☆☆☆☆ Found in Text Mining only
Thrombocytosis	Thrombocytosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Total spina bifida aperta	Spina Bifida Cystica	Orphanet			★☆☆☆☆ Found in Text Mining only
Total spina bifida cystica	Spina Bifida Cystica	Orphanet			★☆☆☆☆ Found in Text Mining only
Upper thoracic spina bifida aperta	Upper Thoracic Spina Bifida Aperta	Orphanet			★☆☆☆☆ Found in Text Mining only
Upper thoracic spina bifida cystica	Upper Thoracic Spina Bifida Cystica	Orphanet			★☆☆☆☆ Found in Text Mining only