FOLR1 (folate receptor alpha)

Gene

• Entrez ID: 2348
• Gene name: Folate receptor alpha
• Gene symbol: FOLR1
• Synonyms (NCBI Gene): FBP, FOLR, FRalpha, NCFTD
• Disease Acronyms (UniProt): NCFTD
• Chromosome: 11
• Chromosome location: 11q13.4
• Summary: The protein encoded by this gene is a member of the folate receptor family. Members of this gene family bind folic acid and its reduced derivatives, and transport 5-methyltetrahydrofolate into cells. This gene product is a secreted protein that either anc

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs76191655	C>A,T	Benign, benign-likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, synonymous variant
rs121918405	C>G,T	Pathogenic	Coding sequence variant, stop gained, missense variant
rs121918406	C>A,T	Pathogenic	Coding sequence variant, stop gained, synonymous variant
rs139633601	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs143413500	T>C	Likely-benign, conflicting-interpretations-of-pathogenicity, benign	Coding sequence variant, synonymous variant
rs144637717	T>C	Conflicting-interpretations-of-pathogenicity, uncertain-significance, pathogenic	Splice donor variant
rs148345688	A>G	Likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs149216939	A>G	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs375444839	C>T	Likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs398124307	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs564331848	A>G	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Synonymous variant, coding sequence variant
rs757554598	G>A,C	Likely-pathogenic	Missense variant, coding sequence variant, stop gained
rs886042924	T>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Intron variant
rs952165627	C>T	Likely-pathogenic	Stop gained, coding sequence variant
rs1057518027	G>A	Likely-pathogenic	Splice donor variant
rs1057518816	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1057524829	A>G	Likely-pathogenic	Initiator codon variant, missense variant
rs1555068629	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1555069069	G>A	Pathogenic	Coding sequence variant, stop gained

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT019895	hsa-miR-375	Microarray	20215506
MIRT023991	hsa-miR-1-3p	Proteomics;Microarray	18668037
MIRT684063	hsa-miR-4796-3p	HITS-CLIP	23313552
MIRT684061	hsa-miR-7153-3p	HITS-CLIP	23313552
MIRT684060	hsa-miR-6165	HITS-CLIP	23313552
MIRT684059	hsa-miR-3914	HITS-CLIP	23313552
MIRT684058	hsa-miR-4747-3p	HITS-CLIP	23313552
MIRT684057	hsa-miR-4436b-3p	HITS-CLIP	23313552
MIRT684056	hsa-miR-4632-5p	HITS-CLIP	23313552
MIRT684055	hsa-miR-6735-5p	HITS-CLIP	23313552
MIRT684054	hsa-miR-6879-5p	HITS-CLIP	23313552
MIRT684053	hsa-miR-7843-5p	HITS-CLIP	23313552
MIRT684052	hsa-miR-4715-5p	HITS-CLIP	23313552
MIRT684051	hsa-miR-4259	HITS-CLIP	23313552
MIRT684050	hsa-miR-4272	HITS-CLIP	23313552
MIRT684049	hsa-miR-3973	HITS-CLIP	23313552
MIRT684048	hsa-miR-520g-3p	HITS-CLIP	23313552
MIRT684047	hsa-miR-520h	HITS-CLIP	23313552
MIRT684046	hsa-miR-6847-5p	HITS-CLIP	23313552
MIRT684045	hsa-miR-4257	HITS-CLIP	23313552
MIRT684038	hsa-miR-873-5p	HITS-CLIP	23313552
MIRT684044	hsa-miR-29b-1-5p	HITS-CLIP	23313552
MIRT684043	hsa-miR-134-3p	HITS-CLIP	23313552
MIRT684040	hsa-miR-591	HITS-CLIP	23313552
MIRT684039	hsa-miR-5008-5p	HITS-CLIP	23313552
MIRT684038	hsa-miR-873-5p	HITS-CLIP	23313552
MIRT684036	hsa-miR-6081	HITS-CLIP	23313552
MIRT684035	hsa-miR-3167	HITS-CLIP	23313552
MIRT684034	hsa-miR-876-5p	HITS-CLIP	23313552
MIRT684033	hsa-miR-1207-5p	HITS-CLIP	23313552
MIRT684032	hsa-miR-4763-3p	HITS-CLIP	23313552
MIRT684031	hsa-miR-7974	HITS-CLIP	23313552
MIRT684030	hsa-miR-4687-3p	HITS-CLIP	23313552
MIRT684029	hsa-miR-6827-5p	HITS-CLIP	23313552
MIRT684028	hsa-miR-6090	HITS-CLIP	23313552
MIRT684027	hsa-miR-4300	HITS-CLIP	23313552
MIRT684026	hsa-miR-5591-5p	HITS-CLIP	23313552
MIRT684025	hsa-miR-6726-5p	HITS-CLIP	23313552
MIRT684024	hsa-miR-920	HITS-CLIP	23313552
MIRT684023	hsa-miR-6721-5p	HITS-CLIP	23313552
MIRT684022	hsa-miR-4656	HITS-CLIP	23313552
MIRT684021	hsa-miR-4489	HITS-CLIP	23313552
MIRT684020	hsa-miR-4283	HITS-CLIP	23313552
MIRT684019	hsa-miR-185-3p	HITS-CLIP	23313552
MIRT684018	hsa-miR-299-5p	HITS-CLIP	23313552
MIRT684017	hsa-miR-491-5p	HITS-CLIP	23313552
MIRT684016	hsa-miR-3151-5p	HITS-CLIP	23313552
MIRT684015	hsa-miR-4447	HITS-CLIP	23313552
MIRT684014	hsa-miR-4472	HITS-CLIP	23313552
MIRT684013	hsa-miR-6742-5p	HITS-CLIP	23313552
MIRT684012	hsa-miR-4425	HITS-CLIP	23313552
MIRT684011	hsa-miR-30c-1-3p	HITS-CLIP	23313552
MIRT684010	hsa-miR-30c-2-3p	HITS-CLIP	23313552
MIRT684009	hsa-miR-6788-5p	HITS-CLIP	23313552
MIRT684008	hsa-miR-1273h-5p	HITS-CLIP	23313552
MIRT684007	hsa-miR-30b-3p	HITS-CLIP	23313552
MIRT684006	hsa-miR-3689a-3p	HITS-CLIP	23313552
MIRT684005	hsa-miR-3689b-3p	HITS-CLIP	23313552
MIRT684004	hsa-miR-3689c	HITS-CLIP	23313552
MIRT684003	hsa-miR-6779-5p	HITS-CLIP	23313552
MIRT684002	hsa-miR-6780a-5p	HITS-CLIP	23313552
MIRT684001	hsa-miR-1231	HITS-CLIP	23313552
MIRT683999	hsa-miR-6796-5p	HITS-CLIP	23313552
MIRT683998	hsa-miR-3180-5p	HITS-CLIP	23313552
MIRT683997	hsa-miR-887-5p	HITS-CLIP	23313552
MIRT684063	hsa-miR-4796-3p	HITS-CLIP	23313552
MIRT684062	hsa-miR-4643	HITS-CLIP	23313552
MIRT684061	hsa-miR-7153-3p	HITS-CLIP	23313552
MIRT684060	hsa-miR-6165	HITS-CLIP	23313552
MIRT684059	hsa-miR-3914	HITS-CLIP	23313552
MIRT684058	hsa-miR-4747-3p	HITS-CLIP	23313552
MIRT684057	hsa-miR-4436b-3p	HITS-CLIP	23313552
MIRT684056	hsa-miR-4632-5p	HITS-CLIP	23313552
MIRT684055	hsa-miR-6735-5p	HITS-CLIP	23313552
MIRT684054	hsa-miR-6879-5p	HITS-CLIP	23313552
MIRT684053	hsa-miR-7843-5p	HITS-CLIP	23313552
MIRT684052	hsa-miR-4715-5p	HITS-CLIP	23313552
MIRT684051	hsa-miR-4259	HITS-CLIP	23313552
MIRT684050	hsa-miR-4272	HITS-CLIP	23313552
MIRT684049	hsa-miR-3973	HITS-CLIP	23313552
MIRT684048	hsa-miR-520g-3p	HITS-CLIP	23313552
MIRT684047	hsa-miR-520h	HITS-CLIP	23313552
MIRT684046	hsa-miR-6847-5p	HITS-CLIP	23313552
MIRT684045	hsa-miR-4257	HITS-CLIP	23313552
MIRT684038	hsa-miR-873-5p	HITS-CLIP	23313552
MIRT684044	hsa-miR-29b-1-5p	HITS-CLIP	23313552
MIRT684043	hsa-miR-134-3p	HITS-CLIP	23313552
MIRT684042	hsa-miR-642a-3p	HITS-CLIP	23313552
MIRT684041	hsa-miR-642b-3p	HITS-CLIP	23313552
MIRT684040	hsa-miR-591	HITS-CLIP	23313552
MIRT684039	hsa-miR-5008-5p	HITS-CLIP	23313552
MIRT684038	hsa-miR-873-5p	HITS-CLIP	23313552
MIRT684037	hsa-miR-4746-3p	HITS-CLIP	23313552
MIRT684036	hsa-miR-6081	HITS-CLIP	23313552
MIRT684035	hsa-miR-3167	HITS-CLIP	23313552
MIRT684034	hsa-miR-876-5p	HITS-CLIP	23313552
MIRT684033	hsa-miR-1207-5p	HITS-CLIP	23313552
MIRT684032	hsa-miR-4763-3p	HITS-CLIP	23313552
MIRT684031	hsa-miR-7974	HITS-CLIP	23313552
MIRT684030	hsa-miR-4687-3p	HITS-CLIP	23313552
MIRT684029	hsa-miR-6827-5p	HITS-CLIP	23313552
MIRT684028	hsa-miR-6090	HITS-CLIP	23313552
MIRT684027	hsa-miR-4300	HITS-CLIP	23313552
MIRT684026	hsa-miR-5591-5p	HITS-CLIP	23313552
MIRT684025	hsa-miR-6726-5p	HITS-CLIP	23313552
MIRT684024	hsa-miR-920	HITS-CLIP	23313552
MIRT684023	hsa-miR-6721-5p	HITS-CLIP	23313552
MIRT684022	hsa-miR-4656	HITS-CLIP	23313552
MIRT684021	hsa-miR-4489	HITS-CLIP	23313552
MIRT684020	hsa-miR-4283	HITS-CLIP	23313552
MIRT684019	hsa-miR-185-3p	HITS-CLIP	23313552
MIRT684018	hsa-miR-299-5p	HITS-CLIP	23313552
MIRT684017	hsa-miR-491-5p	HITS-CLIP	23313552
MIRT684016	hsa-miR-3151-5p	HITS-CLIP	23313552
MIRT684015	hsa-miR-4447	HITS-CLIP	23313552
MIRT684014	hsa-miR-4472	HITS-CLIP	23313552
MIRT684013	hsa-miR-6742-5p	HITS-CLIP	23313552
MIRT684012	hsa-miR-4425	HITS-CLIP	23313552
MIRT684011	hsa-miR-30c-1-3p	HITS-CLIP	23313552
MIRT684010	hsa-miR-30c-2-3p	HITS-CLIP	23313552
MIRT684009	hsa-miR-6788-5p	HITS-CLIP	23313552
MIRT684008	hsa-miR-1273h-5p	HITS-CLIP	23313552
MIRT684007	hsa-miR-30b-3p	HITS-CLIP	23313552
MIRT684006	hsa-miR-3689a-3p	HITS-CLIP	23313552
MIRT684005	hsa-miR-3689b-3p	HITS-CLIP	23313552
MIRT684004	hsa-miR-3689c	HITS-CLIP	23313552
MIRT684003	hsa-miR-6779-5p	HITS-CLIP	23313552
MIRT684002	hsa-miR-6780a-5p	HITS-CLIP	23313552
MIRT684001	hsa-miR-1231	HITS-CLIP	23313552
MIRT684000	hsa-miR-147b	HITS-CLIP	23313552
MIRT683999	hsa-miR-6796-5p	HITS-CLIP	23313552
MIRT683998	hsa-miR-3180-5p	HITS-CLIP	23313552
MIRT683997	hsa-miR-887-5p	HITS-CLIP	23313552
MIRT684063	hsa-miR-4796-3p	HITS-CLIP	23313552
MIRT684061	hsa-miR-7153-3p	HITS-CLIP	23313552
MIRT684060	hsa-miR-6165	HITS-CLIP	23313552
MIRT684059	hsa-miR-3914	HITS-CLIP	23313552
MIRT684058	hsa-miR-4747-3p	HITS-CLIP	23313552
MIRT684057	hsa-miR-4436b-3p	HITS-CLIP	23313552
MIRT684056	hsa-miR-4632-5p	HITS-CLIP	23313552
MIRT684055	hsa-miR-6735-5p	HITS-CLIP	23313552
MIRT684054	hsa-miR-6879-5p	HITS-CLIP	23313552
MIRT684053	hsa-miR-7843-5p	HITS-CLIP	23313552
MIRT684052	hsa-miR-4715-5p	HITS-CLIP	23313552
MIRT684051	hsa-miR-4259	HITS-CLIP	23313552
MIRT684050	hsa-miR-4272	HITS-CLIP	23313552
MIRT684049	hsa-miR-3973	HITS-CLIP	23313552
MIRT684048	hsa-miR-520g-3p	HITS-CLIP	23313552
MIRT684047	hsa-miR-520h	HITS-CLIP	23313552
MIRT684046	hsa-miR-6847-5p	HITS-CLIP	23313552
MIRT684045	hsa-miR-4257	HITS-CLIP	23313552
MIRT684038	hsa-miR-873-5p	HITS-CLIP	23313552
MIRT684044	hsa-miR-29b-1-5p	HITS-CLIP	23313552
MIRT684043	hsa-miR-134-3p	HITS-CLIP	23313552
MIRT684040	hsa-miR-591	HITS-CLIP	23313552
MIRT684039	hsa-miR-5008-5p	HITS-CLIP	23313552
MIRT684038	hsa-miR-873-5p	HITS-CLIP	23313552
MIRT684036	hsa-miR-6081	HITS-CLIP	23313552
MIRT684035	hsa-miR-3167	HITS-CLIP	23313552
MIRT684034	hsa-miR-876-5p	HITS-CLIP	23313552
MIRT684033	hsa-miR-1207-5p	HITS-CLIP	23313552
MIRT684032	hsa-miR-4763-3p	HITS-CLIP	23313552
MIRT684031	hsa-miR-7974	HITS-CLIP	23313552
MIRT684030	hsa-miR-4687-3p	HITS-CLIP	23313552
MIRT684029	hsa-miR-6827-5p	HITS-CLIP	23313552
MIRT684028	hsa-miR-6090	HITS-CLIP	23313552
MIRT684027	hsa-miR-4300	HITS-CLIP	23313552
MIRT684026	hsa-miR-5591-5p	HITS-CLIP	23313552
MIRT684025	hsa-miR-6726-5p	HITS-CLIP	23313552
MIRT684024	hsa-miR-920	HITS-CLIP	23313552
MIRT684023	hsa-miR-6721-5p	HITS-CLIP	23313552
MIRT684022	hsa-miR-4656	HITS-CLIP	23313552
MIRT684021	hsa-miR-4489	HITS-CLIP	23313552
MIRT684020	hsa-miR-4283	HITS-CLIP	23313552
MIRT684019	hsa-miR-185-3p	HITS-CLIP	23313552
MIRT684018	hsa-miR-299-5p	HITS-CLIP	23313552
MIRT684017	hsa-miR-491-5p	HITS-CLIP	23313552
MIRT684016	hsa-miR-3151-5p	HITS-CLIP	23313552
MIRT684015	hsa-miR-4447	HITS-CLIP	23313552
MIRT684014	hsa-miR-4472	HITS-CLIP	23313552
MIRT684013	hsa-miR-6742-5p	HITS-CLIP	23313552
MIRT684012	hsa-miR-4425	HITS-CLIP	23313552
MIRT684011	hsa-miR-30c-1-3p	HITS-CLIP	23313552
MIRT684010	hsa-miR-30c-2-3p	HITS-CLIP	23313552
MIRT684009	hsa-miR-6788-5p	HITS-CLIP	23313552
MIRT684008	hsa-miR-1273h-5p	HITS-CLIP	23313552
MIRT684007	hsa-miR-30b-3p	HITS-CLIP	23313552
MIRT684006	hsa-miR-3689a-3p	HITS-CLIP	23313552
MIRT684005	hsa-miR-3689b-3p	HITS-CLIP	23313552
MIRT684004	hsa-miR-3689c	HITS-CLIP	23313552
MIRT684003	hsa-miR-6779-5p	HITS-CLIP	23313552
MIRT684002	hsa-miR-6780a-5p	HITS-CLIP	23313552
MIRT684001	hsa-miR-1231	HITS-CLIP	23313552
MIRT683999	hsa-miR-6796-5p	HITS-CLIP	23313552
MIRT683998	hsa-miR-3180-5p	HITS-CLIP	23313552
MIRT683997	hsa-miR-887-5p	HITS-CLIP	23313552
MIRT684063	hsa-miR-4796-3p	HITS-CLIP	23313552
MIRT684062	hsa-miR-4643	HITS-CLIP	23313552
MIRT684061	hsa-miR-7153-3p	HITS-CLIP	23313552
MIRT684060	hsa-miR-6165	HITS-CLIP	23313552
MIRT684059	hsa-miR-3914	HITS-CLIP	23313552
MIRT684058	hsa-miR-4747-3p	HITS-CLIP	23313552
MIRT684057	hsa-miR-4436b-3p	HITS-CLIP	23313552
MIRT684056	hsa-miR-4632-5p	HITS-CLIP	23313552
MIRT684055	hsa-miR-6735-5p	HITS-CLIP	23313552
MIRT684054	hsa-miR-6879-5p	HITS-CLIP	23313552
MIRT684053	hsa-miR-7843-5p	HITS-CLIP	23313552
MIRT684052	hsa-miR-4715-5p	HITS-CLIP	23313552
MIRT684051	hsa-miR-4259	HITS-CLIP	23313552
MIRT684050	hsa-miR-4272	HITS-CLIP	23313552
MIRT684049	hsa-miR-3973	HITS-CLIP	23313552
MIRT684048	hsa-miR-520g-3p	HITS-CLIP	23313552
MIRT684047	hsa-miR-520h	HITS-CLIP	23313552
MIRT684046	hsa-miR-6847-5p	HITS-CLIP	23313552
MIRT684045	hsa-miR-4257	HITS-CLIP	23313552
MIRT684038	hsa-miR-873-5p	HITS-CLIP	23313552
MIRT684044	hsa-miR-29b-1-5p	HITS-CLIP	23313552
MIRT684043	hsa-miR-134-3p	HITS-CLIP	23313552
MIRT684042	hsa-miR-642a-3p	HITS-CLIP	23313552
MIRT684041	hsa-miR-642b-3p	HITS-CLIP	23313552
MIRT684040	hsa-miR-591	HITS-CLIP	23313552
MIRT684039	hsa-miR-5008-5p	HITS-CLIP	23313552
MIRT684038	hsa-miR-873-5p	HITS-CLIP	23313552
MIRT684037	hsa-miR-4746-3p	HITS-CLIP	23313552
MIRT684036	hsa-miR-6081	HITS-CLIP	23313552
MIRT684035	hsa-miR-3167	HITS-CLIP	23313552
MIRT684034	hsa-miR-876-5p	HITS-CLIP	23313552
MIRT684033	hsa-miR-1207-5p	HITS-CLIP	23313552
MIRT684032	hsa-miR-4763-3p	HITS-CLIP	23313552
MIRT684031	hsa-miR-7974	HITS-CLIP	23313552
MIRT684030	hsa-miR-4687-3p	HITS-CLIP	23313552
MIRT684029	hsa-miR-6827-5p	HITS-CLIP	23313552
MIRT684028	hsa-miR-6090	HITS-CLIP	23313552
MIRT684027	hsa-miR-4300	HITS-CLIP	23313552
MIRT684026	hsa-miR-5591-5p	HITS-CLIP	23313552
MIRT684025	hsa-miR-6726-5p	HITS-CLIP	23313552
MIRT684024	hsa-miR-920	HITS-CLIP	23313552
MIRT684023	hsa-miR-6721-5p	HITS-CLIP	23313552
MIRT684022	hsa-miR-4656	HITS-CLIP	23313552
MIRT684021	hsa-miR-4489	HITS-CLIP	23313552
MIRT684020	hsa-miR-4283	HITS-CLIP	23313552
MIRT684019	hsa-miR-185-3p	HITS-CLIP	23313552
MIRT684018	hsa-miR-299-5p	HITS-CLIP	23313552
MIRT684017	hsa-miR-491-5p	HITS-CLIP	23313552
MIRT684016	hsa-miR-3151-5p	HITS-CLIP	23313552
MIRT684015	hsa-miR-4447	HITS-CLIP	23313552
MIRT684014	hsa-miR-4472	HITS-CLIP	23313552
MIRT684013	hsa-miR-6742-5p	HITS-CLIP	23313552
MIRT684012	hsa-miR-4425	HITS-CLIP	23313552
MIRT684011	hsa-miR-30c-1-3p	HITS-CLIP	23313552
MIRT684010	hsa-miR-30c-2-3p	HITS-CLIP	23313552
MIRT684009	hsa-miR-6788-5p	HITS-CLIP	23313552
MIRT684008	hsa-miR-1273h-5p	HITS-CLIP	23313552
MIRT684007	hsa-miR-30b-3p	HITS-CLIP	23313552
MIRT684006	hsa-miR-3689a-3p	HITS-CLIP	23313552
MIRT684005	hsa-miR-3689b-3p	HITS-CLIP	23313552
MIRT684004	hsa-miR-3689c	HITS-CLIP	23313552
MIRT684003	hsa-miR-6779-5p	HITS-CLIP	23313552
MIRT684002	hsa-miR-6780a-5p	HITS-CLIP	23313552
MIRT684001	hsa-miR-1231	HITS-CLIP	23313552
MIRT684000	hsa-miR-147b	HITS-CLIP	23313552
MIRT683999	hsa-miR-6796-5p	HITS-CLIP	23313552
MIRT683998	hsa-miR-3180-5p	HITS-CLIP	23313552
MIRT683997	hsa-miR-887-5p	HITS-CLIP	23313552

Transcription factors

Transcription factor	Regulation	Reference
SP1	Unknown	12566316

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000139	Component	Golgi membrane	TAS
GO:0001947	Process	Heart looping	ISS
GO:0003147	Process	Neural crest cell migration involved in heart formation	ISS
GO:0003253	Process	Cardiac neural crest cell migration involved in outflow tract morphogenesis	ISS
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005542	Function	Folic acid binding	IDA	2527252, 10787414, 14722620, 23851396
GO:0005542	Function	Folic acid binding	NAS	1840502
GO:0005634	Component	Nucleus	IDA	23243496
GO:0005768	Component	Endosome	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0005886	Component	Plasma membrane	NAS	1840502
GO:0006888	Process	Endoplasmic reticulum to Golgi vesicle-mediated transport	TAS
GO:0006898	Process	Receptor-mediated endocytosis	TAS	9545095
GO:0007155	Process	Cell adhesion	IBA	21873635
GO:0007342	Process	Fusion of sperm to egg plasma membrane involved in single fertilization	IBA	21873635
GO:0009986	Component	Cell surface	HDA	19581412
GO:0012507	Component	ER to Golgi transport vesicle membrane	TAS
GO:0015884	Process	Folic acid transport	IMP	8033114
GO:0016020	Component	Membrane	TAS	10633085
GO:0016323	Component	Basolateral plasma membrane	IDA	10787414
GO:0016324	Component	Apical plasma membrane	IDA	10787414
GO:0017015	Process	Regulation of transforming growth factor beta receptor signaling pathway	ISS
GO:0030133	Component	Transport vesicle	TAS
GO:0030136	Component	Clathrin-coated vesicle	IEA
GO:0031103	Process	Axon regeneration	ISS
GO:0031362	Component	Anchored component of external side of plasma membrane	IBA	21873635
GO:0031362	Component	Anchored component of external side of plasma membrane	IDA	2527252, 8033114
GO:0031526	Component	Brush border membrane	IEA
GO:0033116	Component	Endoplasmic reticulum-Golgi intermediate compartment membrane	TAS
GO:0035036	Process	Sperm-egg recognition	IBA	21873635
GO:0038023	Function	Signaling receptor activity	IBA	21873635
GO:0046655	Process	Folic acid metabolic process	IEA
GO:0048208	Process	COPII vesicle coating	TAS
GO:0051870	Function	Methotrexate binding	IDA	19116913
GO:0060828	Process	Regulation of canonical Wnt signaling pathway	ISS
GO:0061626	Process	Pharyngeal arch artery morphogenesis	ISS
GO:0061713	Process	Anterior neural tube closure	ISS
GO:0061714	Function	Folic acid receptor activity	IC
GO:0061714	Function	Folic acid receptor activity	IMP	8033114
GO:0070062	Component	Extracellular exosome	HDA	19199708, 23533145
GO:0071231	Process	Cellular response to folic acid	IDA	14722620
GO:1904447	Process	Folate import across plasma membrane	IEA

Other IDs

• MIM: 136430
• HGNC: 3791
• e!Ensembl: ENSG00000110195

Protein

• UniProt ID: P15328
• Protein name: Folate receptor alpha (FR-alpha) (Adult folate-binding protein) (FBP) (Folate receptor 1) (Folate receptor, adult) (KB cells FBP) (Ovarian tumor-associated antigen MOv18)
• Protein function: Binds to folate and reduced folic acid derivatives and mediates delivery of 5-methyltetrahydrofolate and folate analogs into the interior of cells (PubMed:19074442, PubMed:23851396, PubMed:23934049, PubMed:2527252, PubMed:8033114, PubMed:8567728
• PDB: 4KM6, 4KM7, 4KMX, 4LRH, 5IZQ
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF03024	Folate_rec	36 → 211	Folate receptor family	Domain

• Tissue specificity: TISSUE SPECIFICITY: Primarily expressed in tissues of epithelial origin. Expression is increased in malignant tissues. Expressed in kidney, lung and cerebellum. Detected in placenta and thymus epithelium. {ECO:0000269|PubMed:2527252, ECO:0000269|PubMed:27
• Sequence:

  MAQRMTTQLLLLLVWVAVVGEAQTRIAWARTELLNVCMNAKHHKEKPGPEDKLHEQCRPW
  RKNACCSTNTSQEAHKDVSYLYRFNWNHCGEMAPACKRHFIQDTCLYECSPNLGPWIQQV
  DQSWRKERVLNVPLCKEDCEQWWEDCRTSYTCKSNWHKGWNWTSGFNKCAVGAACQPFHF
  YFPTPTVLCNEIWTHSYKVSNYSRGSGRCIQMWFDPAQGNPNEEVARFYAAAMSGAGPWA
  AWPFLLSLALMLLWLLS

• Sequence length: 257

Pathways

KEGG:

Antifolate resistance
Endocytosis
Folate transport and metabolism

Reactome:

COPII-mediated vesicle transport
Cargo concentration in the ER
COPI-mediated anterograde transport

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Anencephaly	Iniencephaly, Exencephaly	rs773607884	15800851
Colonic neoplasms	Malignant tumor of colon, Colonic Neoplasms	rs267607789, rs774277300, rs781222233, rs1060502734, rs1060503333, rs1339238483	15705887, 18926688
Congenital heart defects	Congenital Heart Defects	rs267607101, rs121434422, rs387906498, rs397509416, rs587777371, rs587777372, rs587777374, rs367537998, rs797044882, rs886041730, rs768027510, rs1064793873, rs1555447012, rs1554263268, rs1554263321, rs1555223294, rs782051102, rs1555896779, rs1555896778, rs1555897088, rs374016704, rs1555446983, rs1479104927, rs1562443558, rs755445139, rs1581616817, rs1581655293, rs1899172049	17286298
Developmental regression	Developmental regression	rs1224421127
Epilepsy	Epilepsy, Epilepsy, Cryptogenic, Awakening Epilepsy	rs113994140, rs28937874, rs1589762127, rs104894166, rs28939075, rs2134001459, rs104894167, rs119488099, rs119488100, rs387906420, rs121917752, rs121918622, rs281865564, rs387907313, rs397514670, rs768241563, rs587776973, rs587776974, rs587776975, rs879255234, rs587776976, rs587776977, rs121917993, rs398123588, rs13306758, rs587777458, rs587777459, rs541024038, rs797044545, rs730882240, rs786205703, rs794726859, rs796053126, rs796053035, rs796053216, rs796052839, rs869025201, rs797044999, rs797044998, rs797045045, rs794726762, rs869312971, rs869312972, rs879255652, rs886037938, rs886037958, rs886037959, rs886037960, rs886037961, rs886037962, rs886037965, rs886037966, rs886039245, rs886039246, rs886039251, rs886039252, rs772872014, rs886039253, rs886039256, rs757511744, rs886039261, rs886039263, rs578185749, rs886039266, rs886039268, rs886039269, rs886039273, rs368820286, rs1057518801, rs1057518688, rs1057519107, rs1057519273, rs752753379, rs767795673, rs1057519424, rs755946598, rs760609867, rs1057521066, rs1057524233, rs1060501488, rs1060501487, rs755127868, rs751533302, rs771373457, rs1475605360, rs1555401942, rs1553567864, rs200661329, rs766667249, rs1556607762, rs1555882921, rs1555882867, rs1555900914, rs1553546836, rs77216276, rs755595256, rs747661902, rs2105890565, rs1021001959, rs1555441032, rs1555439541, rs1556526609, rs1315483224, rs759952667, rs1555885023, rs1553456695, rs1555942720, rs1569083500, rs1559127505, rs1206309859, rs1567139896, rs1567134495, rs1431914212, rs1569166925, rs1569255443, rs1568955379, rs1567152003, rs374158137, rs1567129567, rs1569523728, rs1568991466, rs1569186093, rs1569254004, rs1372605067, rs1569067939, rs1568963062, rs1563959514, rs1569012755, rs1559118914, rs1602338615, rs1596522356, rs1364913665, rs1596522300, rs1596526976, rs1229740428, rs1596385588, rs1596500172, rs1596505517, rs1601925213, rs1601970168, rs1602010382, rs1602903591, rs1603014297, rs1603014708, rs1601875057, rs1601970824, rs1601755632, rs1587393982, rs1592977444, rs1575562076, rs1570998206, rs1588057922, rs1596528731, rs1602349641, rs1587401875, rs2065899210, rs1596526915, rs2093486364, rs2056165149, rs2056100951, rs781482552, rs1899868619, rs1900088045, rs1898675878, rs1898686157, rs1898837245, rs1898844513, rs2082841677, rs2085727988, rs2092933941, rs2091657024, rs1899864955, rs1898844907, rs2083056830, rs2084070588, rs1899713412, rs2082695884, rs1977106116, rs1977105425, rs1443687532	19732866
Epileptic encephalopathy	Epileptic encephalopathy	rs587776508, rs121918334, rs121918317, rs121918321, rs74315390, rs28939684, rs74315391, rs74315392, rs118192244, rs121918622, rs121918623, rs121917953, rs121917955, rs121918624, rs121918625, rs121918626, rs121918629, rs121918632, rs118192218, rs118192219, rs118192222, rs118192226, rs118192228, rs118192234, rs118192236, rs118192235, rs118192242, rs118192185, rs118192188, rs118192246, rs118192186, rs118192194, rs118192199, rs118192201, rs118192202, rs118192203, rs118192204, rs118192205, rs118192206, rs118192208, rs118192215, rs118192216, rs118192239, rs397514458, rs387906686, rs202151337, rs121917957, rs121917929, rs121917927, rs121917966, rs121917941, rs121917964, rs121917943, rs121917965, rs121917918, rs121917963, rs121917911, rs121917912, rs121917986, rs121917987, rs121917913, rs121917945, rs121917996, rs121917975, rs121917919, rs121917993, rs121917915, rs121917995, rs121917976, rs121917994, rs121917926, rs121917951, rs121917952, rs121917980, rs121917921, rs121917935, rs121917936, rs121917984, rs121917937, rs121917985, rs121917938, rs121917928, rs121918753, rs121918781, rs121918782, rs121918784, rs121918734, rs121918788, rs121917969, rs121918775, rs121918786, rs121918796, rs121918745, rs121918740, rs121918741, rs121918789, rs121918742, rs121918791, rs121918811, rs121917922, rs121918744, rs121918778, rs121918767, rs121918779, rs121918770, rs121918783, rs121918773, rs121918793, rs267606051, rs398123585, rs398123588, rs398123593, rs587777164, rs587777219, rs587777310, rs587780446, rs587777492, rs587777495, rs587777577, rs267608501, rs587777721, rs587783192, rs587783200, rs104894745, rs587784453, rs587784454, rs587784438, rs587784440, rs727504136, rs727503974, rs727504140, rs727504173, rs201497300, rs786204967, rs794726739, rs794726845, rs779614747, rs794726726, rs794726763, rs794726754, rs794726760, rs794726759, rs199727342, rs794726800, rs794726752, rs794726825, rs794726809, rs794726696, rs794726699, rs794726705, rs794726784, rs794726779, rs794726821, rs146878122, rs794726816, rs794726744, rs794726854, rs794726710, rs794726733, rs542420576, rs794726772, rs794726842, rs794726718, rs794726761, rs794726697, rs794726775, rs397514459, rs767045134, rs794726766, rs794726742, rs794726730, rs794726778, rs794726736, rs794726773, rs794726790, rs794726826, rs794726753, rs794726799, rs794726844, rs794726782, rs794726798, rs794726824, rs794726827, rs794726803, rs794726711, rs794726762, rs786205598, rs863223345, rs794727128, rs794727337, rs794727361, rs794727444, rs794727740, rs794727792, rs794727970, rs863225068, rs796053181, rs796053130, rs796053048, rs796053086, rs796053103, rs796053043, rs796053085, rs796053035, rs796053031, rs796053029, rs796053022, rs139300715, rs796053014, rs1553522472, rs796053010, rs121917908, rs796053008, rs794726789, rs796053004, rs796053072, rs796052995, rs796053067, rs796052990, rs796052987, rs796052985, rs796053065, rs1553543316, rs796053064, rs796052977, rs796052976, rs796052973, rs796052972, rs781746113, rs796052960, rs796052959, rs796053054, rs1553551312, rs796052953, rs758871507, rs796053350, rs1554776228, rs796053352, rs796053390, rs796053353, rs796053359, rs796053361, rs796053366, rs796053367, rs796053370, rs796053368, rs796053373, rs796053376, rs796053377, rs1554768992, rs796053335, rs796053233, rs796053214, rs796053216, rs796053224, rs796053228, rs796053229, rs796052658, rs796052670, rs796052654, rs796052653, rs796052652, rs773171451, rs1555853593, rs759584387, rs796052650, rs118192233, rs796052657, rs796052644, rs796052645, rs796052641, rs796052640, rs775918190, rs796052636, rs796052626, rs796052623, rs796052621, rs796052620, rs796052618, rs796052617, rs796052663, rs797044983, rs797045013, rs797044878, rs797044951, rs797044873, rs797044938, rs797045969, rs118192212, rs863225037, rs863225036, rs863225030, rs863225031, rs864321707, rs864321712, rs869312684, rs869312920, rs869312939, rs878853250, rs878854263, rs878854262, rs751170778, rs878854974, rs878855236, rs1555794286, rs879255652, rs879255695, rs879255697, rs879255704, rs879255705, rs879255709, rs879255710, rs886039323, rs886039435, rs886039494, rs886039903, rs1135401734, rs1135401733, rs1135401732, rs886042004, rs886041716, rs886041961, rs886041668, rs886041246, rs886041339, rs886041766, rs886041262, rs886041715, rs886042528, rs886042605, rs886063501, rs1555850151, rs1057516123, rs1555853971, rs1057516115, rs1057516106, rs1057516105, rs1057516099, rs1057516098, rs1057516094, rs1057516089, rs1057516086, rs1057516085, rs1057516080, rs1057516079, rs1057516076, rs1057518325, rs1057517862, rs1057517849, rs1057518243, rs1057518258, rs1057517958, rs121917974, rs1057517959, rs796053374, rs1057517919, rs1057518489, rs1057518801, rs1057518816, rs759766243, rs1057518795, rs1057518985, rs1057519000, rs1057519269, rs1057519270, rs1057519452, rs375659415, rs1057519501, rs1057519528, rs1057519526, rs1057519527, rs1057519524, rs796053083, rs1057519529, rs1057519531, rs1057519547, rs1057519548, rs1057519545, rs1057519538, rs1057519539, rs1057519537, rs1057519540, rs1057519549, rs1057519550, rs1057519535, rs1057519536, rs1057519542, rs778291283, rs1057520486, rs794726765, rs750209664, rs121917753, rs1057521746, rs1057523858, rs1057520753, rs1057520413, rs1057521080, rs1057524599, rs778481061, rs768633670, rs796052655, rs1060502190, rs1060502183, rs121918780, rs1060502185, rs1057521537, rs1060502187, rs121918765, rs1060502182, rs121917981, rs1060502188, rs1060502189, rs1060503108, rs1060501724, rs1060501722, rs1060501723, rs1060501012, rs1060504137, rs1060500603, rs1060500602, rs1060499592, rs796053138, rs1064795579, rs1553520298, rs121918805, rs1064795733, rs1064796177, rs1064795735, rs1064794634, rs1064796384, rs1064796213, rs1064793923, rs1064794727, rs1064794533, rs1064795384, rs1555850842, rs1064794001, rs1064796151, rs1064795435, rs1064797284, rs1085307930, rs1085307730, rs1085307916, rs1085307876, rs1085307920, rs1131691773, rs1131691774, rs1131691675, rs1131691775, rs1131691693, rs1131691465, rs1131691830, rs1131691936, rs1057523728, rs1199412903, rs1555228303, rs1555507477, rs1554965669, rs1555499800, rs1553923787, rs922847767, rs368609628, rs1553286282, rs1266877537, rs794726749, rs1553551425, rs1553552390, rs1554778657, rs1555889130, rs1555881741, rs1553520320, rs1553522517, rs796053006, rs1553534296, rs1553541028, rs1553544579, rs1553551385, rs1553520380, rs1553525210, rs1553541473, rs761333438, rs1553520982, rs1553522321, rs1553520318, rs1553540503, rs1553540389, rs1553542199, rs1553543215, rs1553541172, rs1553549483, rs750901301, rs794726743, rs1553545660, rs1553561023, rs1553548096, rs1553552319, rs1553560760, rs1554037381, rs1554776948, rs1554778417, rs1057522982, rs1555219147, rs1555218657, rs1555850590, rs1555869758, rs1555873823, rs1553525325, rs794727813, rs1555228771, rs1553520530, rs1555870346, rs1555955296, rs1553551493, rs1555546796, rs1555870554, rs1555871832, rs77216276, rs1554689320, rs1554777496, rs1555881809, rs1553529461, rs12131800, rs1553517274, rs1555889127, rs1555951141, rs1553590192, rs1553531178, rs1555870470, rs927722314, rs1553523142, rs1041924436, rs1553544559, rs1553544821, rs1553520319, rs1553560677, rs1553521567, rs1553522331, rs1553519872, rs1553529426, rs1553519902, rs1553520029, rs1553545522, rs1553520439, rs146515561, rs1553549461, rs1553549834, rs1553546789, rs1553553614, rs1553560676, rs1553520227, rs1553524865, rs1553525036, rs1553560740, rs1553561016, rs1193718145, rs1554769099, rs936639741, rs1352024223, rs758779535, rs1555870506, rs747376305, rs1555869700, rs1555873656, rs1555873981, rs536000212, rs959316981, rs1554777470, rs1555889108, rs1559144583, rs1569219844, rs1564346538, rs1562159088, rs1559101839, rs1559114303, rs1559140110, rs1559140306, rs1043031572, rs121918756, rs1559199628, rs1559200672, rs796053095, rs1559210063, rs1559225495, rs1553549471, rs1559103294, rs1559105368, rs121918764, rs1559114837, rs1559122124, rs1559127505, rs1559128532, rs1559140855, rs1559149128, rs1559217391, rs1559220874, rs794726695, rs1559249734, rs1553553527, rs1559101585, rs1559110846, rs1559193050, rs1559216338, rs1559231284, rs148442069, rs1559105301, rs1559114202, rs121917954, rs1559195296, rs1553546763, rs1559238432, rs1559884460, rs1559887808, rs1564352002, rs1564349850, rs1564351103, rs1565933795, rs1565886685, rs1555228668, rs587777723, rs1564333757, rs375363057, rs1568932480, rs1568925719, rs770187706, rs1568864658, rs1568899375, rs118192209, rs1568932462, rs1568927747, rs1057518555, rs1559119345, rs1085307520, rs1559200901, rs970867558, rs1568940442, rs775162839, rs1568986619, rs1558308998, rs1553546668, rs1569017015, rs1569017045, rs1569017073, rs1555889090, rs1569017143, rs1569017148, rs1569017205, rs1179351306, rs1569017257, rs1569017337, rs1555889162, rs1568658507, rs1485894376, rs1561139569, rs1574716488, rs1553519865, rs1573946994, rs1573948129, rs121918812, rs1573950349, rs1573952908, rs1573964264, rs1573964628, rs372425457, rs1573984004, rs1574004452, rs1574005235, rs1574006637, rs1574006857, rs1574039742, rs121918801, rs1574051496, rs1574051665, rs1574060250, rs1574060717, rs1574169179, rs1574170908, rs121918774, rs1574192005, rs1574192998, rs1574201591, rs1574216450, rs1574223964, rs1574224274, rs1574225593, rs748267258, rs1553547380, rs1574263819, rs1574265144, rs762927460, rs1574266490, rs1574271827, rs1574302195, rs1574371399, rs1575603683, rs763339068, rs1588313568, rs1589416130, rs1592380672, rs1592148206, rs1592149793, rs1592149906, rs1592162415, rs1592162506, rs1596787821, rs1600755607, rs1600755429, rs1600731888, rs1601573302, rs1601566621, rs1601542702, rs1601542417, rs1600886270, rs1600766500, rs1574370981, rs1573962555, rs1574068971, rs1057524737, rs1574263047, rs1575601202, rs1554777464, rs1589393179, rs1597696047, rs1247507359, rs752927520, rs1473654961, rs1592380834, rs796053036, rs1573953706, rs1573973548, rs1573984110, rs1574007140, rs1574166948, rs745378416, rs1574209023, rs796053094, rs1574264920, rs1600714727, rs755159935, rs1574281711, rs779324355, rs1053767552, rs201894374, rs770456604, rs113094436, rs1578264574, rs1260191836, rs1578265048, rs1578265068, rs1578269200, rs1186496501, rs1578269761, rs756467468, rs1381665298, rs1578270476, rs1578274054, rs769243823, rs200059198, rs749975104, rs1578282133, rs1306655122, rs1600785769, rs1580990072, rs1584399108, rs1057519189, rs1595440453, rs1596872804, rs1597653264, rs1597676610, rs1599719527, rs1600755440, rs1600786071, rs770904422, rs1574525321, rs1840653547, rs749965674, rs1841611651, rs1841766225, rs1852152679, rs1853919580, rs1858669268, rs1941650264, rs1941714576, rs1938725748, rs2037920694, rs2037920791, rs2079949302, rs2079962041, rs2079972258, rs2080188103, rs2080189052, rs1057520773, rs2081071680, rs2081187047, rs2081187692, rs2081358991, rs2081378550, rs1698943949, rs1698602170, rs1698192456, rs1698176171, rs1369404945, rs1698003832, rs1698002491, rs1697999557, rs398123581, rs1697674296, rs1697473667, rs1697277384, rs1697160366, rs1697157422, rs1426666349, rs1697134047, rs1696883051, rs1696628056, rs794726823, rs1696403750, rs897883046, rs1696401617, rs1696356978, rs1696338792, rs1693176153, rs1692577292, rs1240187329, rs1553529527, rs1692166604, rs1691093633, rs1691039670, rs1690583220, rs1690345764, rs1690011364, rs1553521530, rs1553521051, rs1386425283, rs1573952473, rs1689300152, rs1689298888, rs1689285717, rs1689278461, rs1238612161, rs1689271621, rs1253117981, rs1689218857, rs1689211960, rs1689211569, rs1689200375, rs1689142827, rs1684673339, rs1684663586, rs1699367901, rs1553553462, rs1699149959, rs1698958802, rs746440689, rs1692586274, rs1697876590, rs727504142, rs1689985819, rs794726764, rs1704944478, rs1178244073, rs1840967817, rs2080693649, rs1938214529, rs2080696874, rs2081190512, rs1691073965, rs1689488709, rs1691048388, rs1692581621, rs1692870117, rs121918785, rs749539763, rs1842042825, rs2081190344, rs1600789325
Mental retardation	Profound Mental Retardation, Mental deficiency, Intellectual Disability	rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315, rs121918316, rs397515320, rs121434489, rs1585215916, rs267607233, rs267606752, rs137852214, rs606231193, rs132630297, rs80338758, rs137852815, rs122455132, rs28935171, rs122453113, rs122445108, rs28934904, rs28934908, rs28935468, rs61748421, rs121918624, rs202060209, rs80338708, rs113994198, rs199422192, rs387906635, rs1554770064, rs1057519611, rs1060499526, rs387906636, rs1057519612, rs281875189, rs281875322, rs387906799, rs387906804, rs875989800, rs797045262, rs387906845, rs387906846, rs876657378, rs281875227, rs281875228, rs281875229, rs281875230, rs387906861, rs370667926, rs387906932, rs387906943, rs1557612719, rs387907190, rs387907191, rs2126499522, rs587776908, rs1560982564, rs80359505, rs398123009, rs587776929, rs587776930, rs397514555, rs398122824, rs398122825, rs397514556, rs2147483647, rs587776937, rs397514627, rs397514655, rs397514656, rs730882192, rs1587520018, rs1581995953, rs1554121970, rs1581987445, rs397514670, rs376395543, rs137854128, rs397509411, rs397509412, rs397514741, rs398122394, rs879255516, rs397518483, rs398122406, rs398122412, rs398123561, rs200667343, rs587777162, rs587777202, rs62507350, rs587777219, rs587777225, rs587777226, rs587779750, rs587777326, rs587777334, rs281875332, rs587780470, rs587780474, rs587780486, rs587777378, rs587777406, rs587777408, rs587777409, rs587777411, rs587777522, rs527236034, rs527236035, rs267608571, rs267608382, rs267608597, rs61753979, rs61751444, rs267608493, rs587777644, rs587777645, rs587777646, rs587777703, rs587779388, rs606231266, rs606231267, rs672601340, rs606231268, rs672601341, rs606231269, rs672601342, rs606231270, rs606231271, rs606231272, rs606231273, rs587784566, rs587784092, rs587783749, rs587783747, rs587783640, rs587783483, rs606231456, rs606231457, rs606231458, rs606231459, rs672601370, rs672601369, rs672601371, rs672601367, rs672601366, rs672601365, rs672601364, rs672601363, rs672601362, rs672601376, rs672601377, rs672601378, rs724159949, rs724159950, rs724159948, rs724159956, rs724159953, rs727502860, rs727502861, rs730882197, rs749995448, rs786205143, rs794726770, rs1135401808, rs786205583, rs786205595, rs786205859, rs794727792, rs794727928, rs794729221, rs797044519, rs797044523, rs797044521, rs797044524, rs797044526, rs797044522, rs797044520, rs794727642, rs796052719, rs781746113, rs796052510, rs796052733, rs796052724, rs796052728, rs796052676, rs796053353, rs796053366, rs796053368, rs1555103986, rs1555110818, rs796052571, rs1555110843, rs796052626, rs796052618, rs796053290, rs796052217, rs672601368, rs797045164, rs797044961, rs797044962, rs200070245, rs797044963, rs869320675, rs869320676, rs797045012, rs752746786, rs797044885, rs797044925, rs797044854, rs797044849, rs797044930, rs797044901, rs797044918, rs797044884, rs797045177, rs797045178, rs797045050, rs797045036, rs797045053, rs797045047, rs797045037, rs797045042, rs797045041, rs879255261, rs782397980, rs797045263, rs797045264, rs797045655, rs797045586, rs545185248, rs797046031, rs797046028, rs797046029, rs797046030, rs797045249, rs797045529, rs797045952, rs797045984, rs797045540, rs797045539, rs797045989, rs863224930, rs869025202, rs863225264, rs863225077, rs876661308, rs869025222, rs864309560, rs758252808, rs745756308, rs869025286, rs869025287, rs869025578, rs143038880, rs869025579, rs869025580, rs869025581, rs869312704, rs869312674, rs869312677, rs869312689, rs869312693, rs869312698, rs869312708, rs869312711, rs869312826, rs869312825, rs869312824, rs869312823, rs758432471, rs869312821, rs761993070, rs869312844, rs869312842, rs869312843, rs869312841, rs869312847, rs869320632, rs869312955, rs773432002, rs869320713, rs869320772, rs869320773, rs879255270, rs875989848, rs875989849, rs1716457622, rs2108414289, rs878854401, rs875989786, rs1085307109, rs1085307108, rs876657679, rs876661167, rs876661076, rs876661055, rs876661219, rs876661064, rs876661151, rs876661041, rs200440467, rs876661295, rs878853045, rs878853143, rs878853142, rs878853149, rs1555910048, rs878853152, rs878853146, rs878853145, rs878853141, rs878853151, rs878853144, rs878853148, rs878853147, rs878853251, rs878853269, rs879253762, rs886037841, rs879253888, rs879253931, rs879254016, rs879255618, rs879255619, rs879255620, rs886037847, rs879255621, rs886039332, rs746177928, rs886039520, rs886041003, rs886041058, rs750035706, rs886041059, rs886041060, rs886041061, rs886041090, rs886041088, rs886041089, rs886041095, rs886041097, rs886041989, rs886041944, rs886041692, rs886041593, rs886041687, rs886041207, rs886041309, rs886041239, rs886041448, rs138336847, rs149644940, rs886041295, rs886041521, rs886041125, rs886042041, rs886041238, rs886041469, rs886041197, rs886041291, rs886041658, rs886041705, rs886041876, rs139716296, rs1057516030, rs1057517408, rs749655461, rs141179774, rs370916968, rs1057517676, rs1057517933, rs1057517708, rs1057518352, rs1057518183, rs1057518474, rs1057518204, rs1057517825, rs1057518796, rs1057518961, rs1057518772, rs1057518988, rs1057519004, rs1057518700, rs772450541, rs371310428, rs1057519019, rs1057519491, rs1057519546, rs1057519560, rs1057519565, rs1057519400, rs1057519402, rs1057519405, rs1057519593, rs1057519594, rs1057519628, rs1556912828, rs1060505029, rs1060505030, rs147001633, rs1057519947, rs1057519617, rs1057524832, rs774592932, rs797045045, rs1039571136, rs1555910821, rs1060499626, rs1060499655, rs1554770185, rs1060499936, rs1060501153, rs1060501151, rs1064792984, rs1060503378, rs1060503386, rs1060503383, rs1060500046, rs1064792999, rs1060505033, rs1064796564, rs1064797002, rs1064793161, rs150802299, rs1064796830, rs1064794996, rs1064795444, rs1064796034, rs1064796403, rs1064794979, rs1064796765, rs1064793539, rs760933323, rs1064793546, rs1064796406, rs1064796367, rs780441716, rs1064794894, rs1064796023, rs1064797355, rs1085307484, rs1064794935, rs1085307547, rs1131690804, rs757511770, rs1131691875, rs1131691979, rs398122823, rs1131691866, rs1131692159, rs1131692228, rs1131692154, rs113331868, rs1554121872, rs1554121875, rs926027867, rs1554122123, rs1554122129, rs1287121256, rs1554122526, rs1554123982, rs1554385102, rs1554385111, rs1554385305, rs1554386687, rs1554389088, rs1554402092, rs1554434435, rs1135401778, rs1135401760, rs1135401770, rs1135401771, rs1135401768, rs1135401779, rs1135401805, rs1135401797, rs1135401799, rs1135401816, rs1135401823, rs1135401824, rs1555769968, rs1135401825, rs1135401955, rs1135401956, rs1135401957, rs1135401958, rs1554129040, rs1554150543, rs1553188463, rs1553146165, rs1485978447, rs1361547443, rs750079325, rs369692236, rs1554231836, rs749188610, rs1554122735, rs1554689877, rs1174482090, rs781053477, rs1554623112, rs1555409836, rs1555411305, rs770014321, rs1555984461, rs1555990958, rs762292772, rs1554944271, rs1057524157, rs1485749468, rs1555984343, rs1293450628, rs373584239, rs1553722309, rs1553738686, rs1376334317, rs1553722294, rs1553283831, rs1554120589, rs1555985554, rs1555877287, rs1555411378, rs750922282, rs1553264873, rs1554263326, rs1554264268, rs1554263626, rs1554263625, rs766614772, rs1553620494, rs1555050158, rs1555050165, rs1555050171, rs1555050174, rs765556214, rs1402086660, rs1554645052, rs1555661648, rs1293246328, rs749494995, rs775592405, rs1553265189, rs1553242856, rs1553247374, rs1553241570, rs1553997065, rs1553998565, rs1380822792, rs1555028154, rs1555023232, rs1553194155, rs1553130904, rs1553152590, rs1553567864, rs1553638614, rs120074160, rs1554486894, rs1554767754, rs1554843977, rs1555443581, rs1555443600, rs1555439545, rs1555525088, rs770680174, rs1555889130, rs373178770, rs1555985532, rs1553519853, rs781325598, rs1410587479, rs1553638086, rs150259543, rs1554093891, rs1554121228, rs1554120498, rs1554121189, rs1212517874, rs1554770628, rs1555979158, rs1554770054, rs771610568, rs1451230055, rs1554770624, rs1555906707, rs1555906768, rs1555906781, rs1555907620, rs1555907623, rs1555907626, rs1555907653, rs1555907864, rs1554094145, rs1554202698, rs1554200722, rs773327091, rs1555607621, rs1555604778, rs1555607159, rs1555607682, rs1553364018, rs1553324416, rs1555411394, rs1554102556, rs1554122363, rs1555705966, rs1555103971, rs1555408401, rs1554461593, rs1554304254, rs1554120978, rs1047509819, rs1555982601, rs767774867, rs1554789246, rs1555111511, rs1555950676, rs1555954380, rs1555985649, rs1553194162, rs1553518509, rs1274633498, rs1554274371, rs1554122252, rs1554122458, rs1554122729, rs1554297905, rs1554776342, rs1554770046, rs1554770667, rs1554792556, rs1452715535, rs1555444885, rs1555534147, rs1427624649, rs1555611722, rs1555744282, rs1555706391, rs1178702025, rs1555984102, rs1554770589, rs1554121443, rs1559791842, rs1559824939, rs1555889127, rs1236702036, rs1553510280, rs1553511175, rs1553511226, rs1554150552, rs1554275163, rs1554201137, rs1553517991, rs1553518511, rs1553517984, rs1553518752, rs1554119814, rs1554122293, rs1554122341, rs1554122689, rs1554770243, rs1554770444, rs1557045250, rs959316981, rs1556270312, rs1553270640, rs978179634, rs1554093884, rs1491240980, rs1555943484, rs1554121453, rs1334099693, rs1554048616, rs1555660806, rs1555644480, rs1555651572, rs1567844992, rs1567855081, rs1567855669, rs1567855704, rs1567856045, rs1567856331, rs1567860075, rs1567860112, rs1567860640, rs1567860891, rs754919272, rs1567860919, rs1567861468, rs1567861489, rs1567861501, rs1567861894, rs1567863732, rs1567864750, rs1567877108, rs1567878511, rs758785463, rs1553808301, rs1553245038, rs1553789166, rs1553813646, rs1553631860, rs1554121265, rs1554770262, rs1555034768, rs1555984433, rs779009256, rs1553994814, rs1553996086, rs1553996072, rs1553270599, rs1553153291, rs760262127, rs1554119274, rs1554121878, rs1554387293, rs1554385203, rs757077698, rs750612085, rs1554776500, rs1564360978, rs1554776933, rs1554776938, rs1565278132, rs1567368243, rs1558478047, rs375695605, rs1558479778, rs1558501648, rs1565240833, rs114727354, rs1557591264, rs1557620758, rs1559099927, rs1561788984, rs369459721, rs1563831738, rs1562159088, rs1562159562, rs1562159599, rs1559094754, rs1559328283, rs755634856, rs1561784687, rs1554122296, rs1561789313, rs1562720119, rs1564363665, rs1561697465, rs1561785003, rs1561787845, rs1561789215, rs1554122305, rs1561784553, rs1561784560, rs1561787690, rs1554122888, rs749632782, rs1567139896, rs1569370887, rs1569371303, rs1564493599, rs1561875779, rs1569146542, rs1569146649, rs1275489527, rs1560115921, rs1468772495, rs749969789, rs1560108090, rs1569376809, rs1569355102, rs1560103306, rs1564365418, rs1559855453, rs1562928193, rs1558149913, rs1253072668, rs141976414, rs1558371790, rs1557898800, rs1567758622, rs1567844041, rs1567844114, rs1567920106, rs1567920209, rs138247472, rs1567974030, rs1567995650, rs1283838287, rs1568003569, rs1568006217, rs1568018905, rs1562505675, rs1561783309, rs1555980234, rs1559087186, rs1560966086, rs1560330387, rs769471341, rs1562493608, rs1562505335, rs1554121861, rs1554122200, rs1562957809, rs1568097623, rs1391600900, rs1568234874, rs1568235086, rs1555990955, rs1567870541, rs1557570794, rs1562869207, rs1571818248, rs1431778557, rs369691608, rs1595808957, rs1597665063, rs1597846084, rs1603401125, rs1603350606, rs1601946481, rs1601932069, rs1602880906, rs1602308324, rs1574554519, rs1573882268, rs1603198937, rs1558148010, rs1558498928, rs1569459580, rs1569380375, rs1560062082, rs1557889974, rs1558414255, rs756429763, rs781663444, rs1569016820, rs1569017025, rs1569017160, rs1557612048, rs1568504941, rs1581987022, rs1576983339, rs1599892470, rs1265340906, rs1602284689, rs1574949440, rs1576220938, rs1576280892, rs1576288424, rs1574459612, rs1574511051, rs1575654528, rs1577094794, rs1294683568, rs771819481, rs1580984895, rs1581338441, rs1580988138, rs1581980317, rs1581986872, rs1554121207, rs1581987268, rs1581987476, rs1581987885, rs763770519, rs1581991929, rs1581992099, rs1581992998, rs1581995453, rs1554122242, rs1581996778, rs1581997228, rs1588735247, rs1555980467, rs1555985742, rs1601319086, rs1601970168, rs1574451881, rs876661168, rs1576994053, rs1573589807, rs1581036396, rs1601267617, rs1572531830, rs1573483715, rs1590954686, rs1601315812, rs1573965358, rs1573972562, rs529087882, rs1570609440, rs1598940393, rs1575333081, rs1576028676, rs1596476657, rs1599375711, rs1603290366, rs1603060007, rs1603069440, rs1592939069, rs1591612223, rs2062994512, rs373701249, rs1600471396, rs1600501018, rs1600504088, rs1600514073, rs748436953, rs765723607, rs758170522, rs1561785045, rs1357591960, rs1591609136, rs1596891223, rs1579370234, rs2047850664, rs1579109565, rs1870202051, rs1574887674, rs778229060, rs1572531281, rs1570622663, rs1573501865, rs1576086299, rs1576164991, rs1574907198, rs1576656734, rs1554121438, rs1581995425, rs1581996813, rs1582001015, rs1588324025, rs1591371152, rs1590008294, rs1590956245, rs1590028691, rs1591606580, rs1591611001, rs1591612317, rs1591612370, rs763436882, rs997044541, rs1595897117, rs747706524, rs1579377990, rs1201878175, rs1894051550, rs1572531730, rs1579576029, rs1577017863, rs752545577, rs1582461267, rs1589460606, rs1588727276, rs1598620094, rs1599368323, rs1600082188, rs1601319352, rs1598226304, rs2076013475, rs2076017638, rs1600596180, rs1554121932, rs1680676671, rs1570607996, rs1382444181, rs1570640673, rs1574994308, rs1596667777, rs1602226289, rs1595629181, rs1595609005, rs1227643933, rs1572705473, rs1570621899, rs1722830922, rs1575094649, rs1417035592, rs1581997098, rs1589457762, rs1598211790, rs758726258, rs1601071971, rs863224922, rs1586692481, rs1586692548, rs1586692551, rs1580988074, rs1594129609, rs1588732344, rs1579368865, rs1586660389, rs1586660370, rs1586660338, rs1586657848, rs1586660381, rs1791701214, rs752676391, rs1680673822, rs758098717, rs1726676630, rs762288077, rs1759964009, rs1760905766, rs1761021165, rs1554121934, rs2055849544, rs1049773, rs587784300, rs1861628072, rs1761241410, rs1064797322, rs1948652423, rs2059194330, rs1777174302, rs2054280202, rs2081190512, rs772665884, rs1400164869, rs1861593395, rs1760897843, rs1761087122, rs1388355040, rs2068797192, rs1777175608, rs376898131	21937992
Narcolepsy	Narcolepsy	rs104894574, rs387906655	19629137
Neural tube defect	Neural Tube Defects	rs121434297, rs137853061, rs137853062, rs768434408, rs777661576, rs747846362, rs200137991, rs780014899, rs574132670, rs786204013, rs147257424, rs763539350, rs776483190, rs781461462, rs1114167354, rs147277149, rs765586205, rs377443637, rs986604359, rs1293600145, rs114727354, rs768980918, rs140277700, rs139645527, rs750323424, rs368321176, rs1579619636, rs893229476, rs754990692, rs763079713, rs1593037878, rs747100389, rs372056091, rs1593083585, rs778121031, rs748778907, rs776969786, rs1189298981, rs375908206, rs1734858651, rs778738842	15800851
Cerebral folate transport deficiency	Neurodegenerative syndrome due to cerebral folate transport deficiency	rs121918405, rs121918406, rs121918843, rs952165627, rs1555069069, rs1591246507
Ovarian cancer	Malignant neoplasm of ovary	rs34424986, rs137853060, rs28934575, rs79658334, rs121913021, rs62625308, rs80356898, rs80357579, rs41293497, rs80356904, rs80357471, rs80357522, rs80357234, rs80357912, rs80357828, rs80357208, rs55770810, rs80358165, rs80358010, rs587780226, rs536907995, rs139414606, rs371638537, rs574552037, rs730881647, rs747993448, rs786202125, rs786202962, rs121913321, rs189261858, rs869320800, rs753023295, rs779466229, rs752411477, rs80357438, rs191486604, rs760874290, rs752780954, rs760782298, rs1555591361, rs1555578360, rs1555588460, rs1555587401, rs747427602, rs112675807, rs80357393	17466904

Associations from Text Mining
Disease Name	Relationship Type	References
ACTH Secreting Pituitary Adenoma	Associate	23023342
Adenocarcinoma	Associate	19764999, 22547449, 22729036, 25971554
Adenocarcinoma Mucinous	Associate	25349970
Adenocarcinoma of Lung	Associate	22547449, 23570254, 26599808
Adenoma	Associate	23023342, 29635300
Ataxia	Associate	33243190
Breast Neoplasms	Associate	24028341, 25816016, 30268765, 31759986
Breast Neoplasms	Stimulate	26943581
Calcinosis	Associate	24556562
Carcinogenesis	Associate	26617855
Carcinoid Tumor	Associate	27064343
Carcinoma	Associate	18222534
Carcinoma Hepatocellular	Associate	34093861, 38057830
Carcinoma Large Cell	Associate	27064343
Carcinoma Non Small Cell Lung	Associate	22547449, 29352248
Carcinoma Non Small Cell Lung	Stimulate	26943581
Carcinoma Ovarian Epithelial	Associate	18222534, 19585555, 21647742, 23880844, 25971554, 38282564, 39631181, 8094291
Carcinoma Pancreatic Ductal	Associate	28430580
Carcinoma Renal Cell	Associate	25349970
Carcinoma Squamous Cell	Associate	19764999, 23570254
Carcinoma Transitional Cell	Associate	24771263
Cerebellar Diseases	Associate	24556562
Cerebellar Hypoplasia	Associate	36305856
Colorectal Neoplasms	Associate	21572402, 25697897, 36931635
Congenital Hereditary and Neonatal Diseases and Abnormalities	Associate	24556562
Craniocerebral Trauma	Associate	24556562
Demyelinating Diseases	Associate	19732866, 24556562
Developmental Disabilities	Associate	33243190
Endometrial Hyperplasia	Associate	26191275
Endometrial Neoplasms	Associate	26191275, 36965901, 40344965
Epilepsy	Associate	19732866
Glioblastoma	Associate	38150033
Glioma	Associate	38150033
Guillain Barre Syndrome	Associate	37221406
Heart Defects Congenital	Associate	35545363
Hereditary Breast and Ovarian Cancer Syndrome	Associate	29545464, 30268765
Hypoxia Brain	Stimulate	23827654
Inflammation	Associate	31650199
Intraocular Lymphoma	Associate	18379939
Leukemia Myeloid Acute	Associate	31650199
Lung Neoplasms	Associate	22547449, 22729036, 22914202
Lymphoma	Associate	18379939
Lymphoma Follicular	Associate	38150033
Meningomyelocele	Associate	20683905, 28735706, 28948692
Mesothelioma	Associate	12019370
Mesothelioma Malignant	Associate	20051956
Nasopharyngeal Carcinoma	Associate	26617855, 2768245
Nasopharyngeal Neoplasms	Associate	29070520
Neoplasm Metastasis	Associate	26943581
Neoplasms	Associate	17695510, 19643405, 21572402, 23144806, 24028341, 24646866, 24771263, 25816016, 25909292, 25971554, 26014017, 26248049, 26599808, 27064343, 27323861, 27485273, 28430580, 29545464, 30268765, 32764924, 33414439, 35044668, 36426547, 38057830, 39326670, 39596024
Neoplasms	Stimulate	26943581, 29433550
Neural Tube Defects	Associate	16256389, 23417011
Neurodegeneration Due To Cerebral Folate Transport Deficiency	Associate	19732866, 24556562, 25274592, 32820034, 33243190
Neurodegenerative Diseases	Associate	19732866
Obesity	Inhibit	30428605
Ovarian Diseases	Associate	18222534, 35044668
Ovarian Neoplasms	Associate	19585555, 19617914, 20132413, 21647742, 25349970, 27323861, 27485273, 29433550, 32503949, 33414439, 36402875, 36716407, 38282564, 38447347, 39326670, 39596024, 8094291, 9099956, 9218736
Ovarian Neoplasms	Stimulate	23528302, 8691264
Personality Disorders	Associate	36426547
Pituitary Neoplasms	Associate	23023342, 28841122
Pituitary Neoplasms	Stimulate	26014017
Psychomotor Disorders	Associate	19732866
Rectal Neoplasms	Associate	36426547
Retinoblastoma	Associate	22304562
Rufous oculocutaneous albinism	Associate	27485273
Seizures	Associate	33243190
Skin Diseases	Associate	29421402
Small Cell Lung Carcinoma	Associate	27064343
Triple Negative Breast Neoplasms	Associate	24028341, 30155754
Triple Negative Breast Neoplasms	Stimulate	25816016
Uterine Cervical Neoplasms	Associate	36245230
Voice Disorders	Associate	19732866