CBS (cystathionine beta-synthase)

Gene

• Entrez ID: 875
• Gene name: Cystathionine beta-synthase
• Gene symbol: CBS
• Synonyms (NCBI Gene): CBSL, HIP4
• Chromosome: 21
• Chromosome location: 21q22.3
• Summary: The protein encoded by this gene acts as a homotetramer to catalyze the conversion of homocysteine to cystathionine, the first step in the transsulfuration pathway. The encoded protein is allosterically activated by adenosyl-methionine and uses pyridoxal

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT049293	hsa-miR-92a-3p	CLASH	23622248
MIRT049293	hsa-miR-92a-3p	CLASH	23622248
MIRT045521	hsa-miR-149-5p	CLASH	23622248
MIRT043169	hsa-miR-324-5p	CLASH	23622248
MIRT041577	hsa-miR-193b-3p	CLASH	23622248
MIRT040018	hsa-miR-615-3p	CLASH	23622248
MIRT039571	hsa-miR-652-3p	CLASH	23622248
MIRT038567	hsa-miR-106b-3p	CLASH	23622248
MIRT683818	hsa-miR-6732-3p	HITS-CLIP	23313552
MIRT683817	hsa-miR-6849-3p	HITS-CLIP	23313552
MIRT683816	hsa-miR-4421	HITS-CLIP	23313552
MIRT683815	hsa-miR-5699-3p	HITS-CLIP	23313552
MIRT683814	hsa-miR-3190-5p	HITS-CLIP	23313552
MIRT683813	hsa-miR-3926	HITS-CLIP	23313552
MIRT683812	hsa-miR-548s	HITS-CLIP	23313552
MIRT644216	hsa-miR-16-2-3p	HITS-CLIP	23824327
MIRT644215	hsa-miR-195-3p	HITS-CLIP	23824327
MIRT644214	hsa-miR-323b-3p	HITS-CLIP	23824327
MIRT644213	hsa-miR-3127-3p	HITS-CLIP	23824327
MIRT644212	hsa-miR-6756-3p	HITS-CLIP	23824327
MIRT644211	hsa-miR-6832-3p	HITS-CLIP	23824327
MIRT644209	hsa-miR-4713-5p	HITS-CLIP	23824327
MIRT644210	hsa-miR-6867-3p	HITS-CLIP	23824327
MIRT644208	hsa-miR-3672	HITS-CLIP	23824327
MIRT644207	hsa-miR-6864-3p	HITS-CLIP	23824327
MIRT644206	hsa-miR-629-3p	HITS-CLIP	23824327
MIRT644205	hsa-miR-8055	HITS-CLIP	23824327
MIRT644204	hsa-miR-129-5p	HITS-CLIP	23824327
MIRT631313	hsa-miR-6736-3p	HITS-CLIP	23824327
MIRT631312	hsa-miR-4267	HITS-CLIP	23824327
MIRT631311	hsa-miR-939-3p	HITS-CLIP	23824327
MIRT631310	hsa-miR-6852-5p	HITS-CLIP	23824327
MIRT631309	hsa-miR-6742-3p	HITS-CLIP	23824327
MIRT631308	hsa-miR-4667-5p	HITS-CLIP	23824327
MIRT631307	hsa-miR-4700-5p	HITS-CLIP	23824327
MIRT631306	hsa-miR-8089	HITS-CLIP	23824327
MIRT631305	hsa-miR-214-5p	HITS-CLIP	23824327
MIRT631304	hsa-miR-6811-3p	HITS-CLIP	23824327
MIRT631303	hsa-miR-3175	HITS-CLIP	23824327
MIRT631302	hsa-miR-1343-5p	HITS-CLIP	23824327
MIRT631301	hsa-miR-939-5p	HITS-CLIP	23824327
MIRT568996	hsa-miR-6825-5p	HITS-CLIP	23824327
MIRT631300	hsa-miR-1271-3p	HITS-CLIP	23824327
MIRT631299	hsa-miR-550a-3-5p	HITS-CLIP	23824327
MIRT631298	hsa-miR-550a-5p	HITS-CLIP	23824327
MIRT631297	hsa-miR-7977	HITS-CLIP	23824327
MIRT631296	hsa-miR-1343-3p	HITS-CLIP	23824327
MIRT631295	hsa-miR-6783-3p	HITS-CLIP	23824327
MIRT631294	hsa-miR-6514-3p	HITS-CLIP	23824327
MIRT631293	hsa-miR-3150a-3p	HITS-CLIP	23824327
MIRT631292	hsa-miR-6763-5p	HITS-CLIP	23824327
MIRT503874	hsa-miR-665	HITS-CLIP	23824327
MIRT487235	hsa-miR-483-5p	PAR-CLIP	20371350
MIRT568998	hsa-miR-4755-3p	PAR-CLIP	20371350
MIRT487232	hsa-miR-7-5p	PAR-CLIP	20371350
MIRT487231	hsa-miR-766-5p	PAR-CLIP	20371350
MIRT487230	hsa-miR-765	PAR-CLIP	20371350
MIRT568997	hsa-miR-7106-5p	PAR-CLIP	20371350
MIRT487229	hsa-miR-149-3p	PAR-CLIP	20371350
MIRT487228	hsa-miR-4728-5p	PAR-CLIP	20371350
MIRT487227	hsa-miR-6785-5p	PAR-CLIP	20371350
MIRT487225	hsa-miR-6883-5p	PAR-CLIP	20371350
MIRT568996	hsa-miR-6825-5p	PAR-CLIP	20371350
MIRT568995	hsa-miR-1202	PAR-CLIP	20371350
MIRT568994	hsa-miR-3972	PAR-CLIP	20371350
MIRT568993	hsa-miR-5006-5p	PAR-CLIP	20371350
MIRT503878	hsa-miR-4453	PAR-CLIP	23446348
MIRT503877	hsa-miR-4538	PAR-CLIP	23446348
MIRT503875	hsa-miR-4768-3p	PAR-CLIP	23446348
MIRT503876	hsa-miR-4459	PAR-CLIP	23446348
MIRT503874	hsa-miR-665	PAR-CLIP	23446348
MIRT503873	hsa-miR-6840-3p	PAR-CLIP	23446348
MIRT503872	hsa-miR-7854-3p	PAR-CLIP	23446348
MIRT503871	hsa-miR-4722-5p	PAR-CLIP	23446348
MIRT503870	hsa-miR-3689d	PAR-CLIP	23446348
MIRT503869	hsa-miR-6851-5p	PAR-CLIP	23446348
MIRT503868	hsa-miR-1273e	PAR-CLIP	23446348
MIRT487236	hsa-miR-580-5p	PAR-CLIP	23592263
MIRT487235	hsa-miR-483-5p	PAR-CLIP	23592263
MIRT487233	hsa-miR-6783-5p	PAR-CLIP	23592263
MIRT487234	hsa-miR-5093	PAR-CLIP	23592263
MIRT487232	hsa-miR-7-5p	PAR-CLIP	23592263
MIRT487231	hsa-miR-766-5p	PAR-CLIP	23592263
MIRT487230	hsa-miR-765	PAR-CLIP	23592263
MIRT487229	hsa-miR-149-3p	PAR-CLIP	23592263
MIRT487228	hsa-miR-4728-5p	PAR-CLIP	23592263
MIRT487227	hsa-miR-6785-5p	PAR-CLIP	23592263
MIRT487225	hsa-miR-6883-5p	PAR-CLIP	23592263
MIRT503868	hsa-miR-1273e	PAR-CLIP	26701625
MIRT503870	hsa-miR-3689d	PAR-CLIP	26701625
MIRT503876	hsa-miR-4459	PAR-CLIP	26701625
MIRT503874	hsa-miR-665	PAR-CLIP	26701625
MIRT503873	hsa-miR-6840-3p	PAR-CLIP	26701625
MIRT683817	hsa-miR-6849-3p	PAR-CLIP	26701625
MIRT503869	hsa-miR-6851-5p	PAR-CLIP	26701625
MIRT503868	hsa-miR-1273e	PAR-CLIP	27292025
MIRT503873	hsa-miR-6840-3p	PAR-CLIP	27292025
MIRT732800	hsa-miR-4317	Luciferase reporter assay, qRT-PCR, Western blotting	33318876
MIRT733679	hsa-miR-376a-3p	Luciferase reporter assay, qRT-PCR, Western blotting	32532171
MIRT683818	hsa-miR-6732-3p	HITS-CLIP	23313552
MIRT683817	hsa-miR-6849-3p	HITS-CLIP	23313552
MIRT683816	hsa-miR-4421	HITS-CLIP	23313552
MIRT683815	hsa-miR-5699-3p	HITS-CLIP	23313552
MIRT683814	hsa-miR-3190-5p	HITS-CLIP	23313552
MIRT683813	hsa-miR-3926	HITS-CLIP	23313552
MIRT683812	hsa-miR-548s	HITS-CLIP	23313552
MIRT644216	hsa-miR-16-2-3p	HITS-CLIP	23824327
MIRT644215	hsa-miR-195-3p	HITS-CLIP	23824327
MIRT644214	hsa-miR-323b-3p	HITS-CLIP	23824327
MIRT644213	hsa-miR-3127-3p	HITS-CLIP	23824327
MIRT644212	hsa-miR-6756-3p	HITS-CLIP	23824327
MIRT644211	hsa-miR-6832-3p	HITS-CLIP	23824327
MIRT644209	hsa-miR-4713-5p	HITS-CLIP	23824327
MIRT644210	hsa-miR-6867-3p	HITS-CLIP	23824327
MIRT644208	hsa-miR-3672	HITS-CLIP	23824327
MIRT644207	hsa-miR-6864-3p	HITS-CLIP	23824327
MIRT644206	hsa-miR-629-3p	HITS-CLIP	23824327
MIRT644205	hsa-miR-8055	HITS-CLIP	23824327
MIRT644204	hsa-miR-129-5p	HITS-CLIP	23824327
MIRT631313	hsa-miR-6736-3p	HITS-CLIP	23824327
MIRT631312	hsa-miR-4267	HITS-CLIP	23824327
MIRT631311	hsa-miR-939-3p	HITS-CLIP	23824327
MIRT631310	hsa-miR-6852-5p	HITS-CLIP	23824327
MIRT631309	hsa-miR-6742-3p	HITS-CLIP	23824327
MIRT631308	hsa-miR-4667-5p	HITS-CLIP	23824327
MIRT631307	hsa-miR-4700-5p	HITS-CLIP	23824327
MIRT631306	hsa-miR-8089	HITS-CLIP	23824327
MIRT631305	hsa-miR-214-5p	HITS-CLIP	23824327
MIRT631304	hsa-miR-6811-3p	HITS-CLIP	23824327
MIRT631303	hsa-miR-3175	HITS-CLIP	23824327
MIRT631302	hsa-miR-1343-5p	HITS-CLIP	23824327
MIRT631301	hsa-miR-939-5p	HITS-CLIP	23824327
MIRT568996	hsa-miR-6825-5p	HITS-CLIP	23824327
MIRT631300	hsa-miR-1271-3p	HITS-CLIP	23824327
MIRT631299	hsa-miR-550a-3-5p	HITS-CLIP	23824327
MIRT631298	hsa-miR-550a-5p	HITS-CLIP	23824327
MIRT631297	hsa-miR-7977	HITS-CLIP	23824327
MIRT631296	hsa-miR-1343-3p	HITS-CLIP	23824327
MIRT631295	hsa-miR-6783-3p	HITS-CLIP	23824327
MIRT631294	hsa-miR-6514-3p	HITS-CLIP	23824327
MIRT631293	hsa-miR-3150a-3p	HITS-CLIP	23824327
MIRT631292	hsa-miR-6763-5p	HITS-CLIP	23824327
MIRT503874	hsa-miR-665	HITS-CLIP	23824327
MIRT487235	hsa-miR-483-5p	PAR-CLIP	20371350
MIRT568998	hsa-miR-4755-3p	PAR-CLIP	20371350
MIRT487232	hsa-miR-7-5p	PAR-CLIP	20371350
MIRT487231	hsa-miR-766-5p	PAR-CLIP	20371350
MIRT487230	hsa-miR-765	PAR-CLIP	20371350
MIRT568997	hsa-miR-7106-5p	PAR-CLIP	20371350
MIRT487229	hsa-miR-149-3p	PAR-CLIP	20371350
MIRT487228	hsa-miR-4728-5p	PAR-CLIP	20371350
MIRT487227	hsa-miR-6785-5p	PAR-CLIP	20371350
MIRT487225	hsa-miR-6883-5p	PAR-CLIP	20371350
MIRT568996	hsa-miR-6825-5p	PAR-CLIP	20371350
MIRT568995	hsa-miR-1202	PAR-CLIP	20371350
MIRT568994	hsa-miR-3972	PAR-CLIP	20371350
MIRT568993	hsa-miR-5006-5p	PAR-CLIP	20371350
MIRT503878	hsa-miR-4453	PAR-CLIP	23446348
MIRT503877	hsa-miR-4538	PAR-CLIP	23446348
MIRT503875	hsa-miR-4768-3p	PAR-CLIP	23446348
MIRT503876	hsa-miR-4459	PAR-CLIP	23446348
MIRT503874	hsa-miR-665	PAR-CLIP	23446348
MIRT503873	hsa-miR-6840-3p	PAR-CLIP	23446348
MIRT503872	hsa-miR-7854-3p	PAR-CLIP	23446348
MIRT503871	hsa-miR-4722-5p	PAR-CLIP	23446348
MIRT503870	hsa-miR-3689d	PAR-CLIP	23446348
MIRT503869	hsa-miR-6851-5p	PAR-CLIP	23446348
MIRT503868	hsa-miR-1273e	PAR-CLIP	23446348
MIRT487236	hsa-miR-580-5p	PAR-CLIP	23592263
MIRT487235	hsa-miR-483-5p	PAR-CLIP	23592263
MIRT487233	hsa-miR-6783-5p	PAR-CLIP	23592263
MIRT487234	hsa-miR-5093	PAR-CLIP	23592263
MIRT487232	hsa-miR-7-5p	PAR-CLIP	23592263
MIRT487231	hsa-miR-766-5p	PAR-CLIP	23592263
MIRT487230	hsa-miR-765	PAR-CLIP	23592263
MIRT487229	hsa-miR-149-3p	PAR-CLIP	23592263
MIRT487228	hsa-miR-4728-5p	PAR-CLIP	23592263
MIRT487227	hsa-miR-6785-5p	PAR-CLIP	23592263
MIRT487225	hsa-miR-6883-5p	PAR-CLIP	23592263
MIRT865793	hsa-miR-1206	CLIP-seq
MIRT865794	hsa-miR-1297	CLIP-seq
MIRT865795	hsa-miR-1299	CLIP-seq
MIRT865796	hsa-miR-154	CLIP-seq
MIRT865797	hsa-miR-198	CLIP-seq
MIRT865798	hsa-miR-203	CLIP-seq
MIRT865799	hsa-miR-219-5p	CLIP-seq
MIRT865800	hsa-miR-26a	CLIP-seq
MIRT865801	hsa-miR-26b	CLIP-seq
MIRT865802	hsa-miR-4257	CLIP-seq
MIRT865803	hsa-miR-4275	CLIP-seq
MIRT865804	hsa-miR-4445	CLIP-seq
MIRT865805	hsa-miR-4452	CLIP-seq
MIRT865806	hsa-miR-4465	CLIP-seq
MIRT865807	hsa-miR-4729	CLIP-seq
MIRT865808	hsa-miR-4731-3p	CLIP-seq
MIRT865809	hsa-miR-4764-5p	CLIP-seq
MIRT865810	hsa-miR-4773	CLIP-seq
MIRT865811	hsa-miR-4782-3p	CLIP-seq
MIRT865812	hsa-miR-4782-5p	CLIP-seq
MIRT865813	hsa-miR-4793-5p	CLIP-seq
MIRT865814	hsa-miR-4801	CLIP-seq
MIRT865815	hsa-miR-498	CLIP-seq
MIRT865816	hsa-miR-508-3p	CLIP-seq
MIRT865817	hsa-miR-516b	CLIP-seq
MIRT865818	hsa-miR-542-3p	CLIP-seq
MIRT865819	hsa-miR-616	CLIP-seq
MIRT865794	hsa-miR-1297	CLIP-seq
MIRT865796	hsa-miR-154	CLIP-seq
MIRT865799	hsa-miR-219-5p	CLIP-seq
MIRT865800	hsa-miR-26a	CLIP-seq
MIRT865801	hsa-miR-26b	CLIP-seq
MIRT1956761	hsa-miR-3977	CLIP-seq
MIRT865804	hsa-miR-4445	CLIP-seq
MIRT865806	hsa-miR-4465	CLIP-seq
MIRT865807	hsa-miR-4729	CLIP-seq
MIRT865811	hsa-miR-4782-3p	CLIP-seq
MIRT865815	hsa-miR-498	CLIP-seq
MIRT865816	hsa-miR-508-3p	CLIP-seq
MIRT1956762	hsa-miR-7	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
NFYA	Activation	12427542
SP1	Unknown	11415440;14670973;20392694
SP3	Unknown	11415440

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001958	Process	Endochondral ossification	IEA
GO:0001974	Process	Blood vessel remodeling	IEA
GO:0003824	Function	Catalytic activity	IEA
GO:0004122	Function	Cystathionine beta-synthase activity	IBA
GO:0004122	Function	Cystathionine beta-synthase activity	IDA	7929220, 18776696, 19010420, 22985361, 23981774, 24416422
GO:0004122	Function	Cystathionine beta-synthase activity	IEA
GO:0005515	Function	Protein binding	IPI	16189514, 17087506, 21653829, 25416956, 31515488, 32296183, 32814053
GO:0005634	Component	Nucleus	IDA	17087506
GO:0005634	Component	Nucleus	IEA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IDA	23981774
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	HDA	16780588
GO:0005829	Component	Cytosol	TAS
GO:0006534	Process	Cysteine metabolic process	IEA
GO:0006535	Process	Cysteine biosynthetic process from serine	IBA
GO:0006535	Process	Cysteine biosynthetic process from serine	IEA
GO:0006563	Process	L-serine metabolic process	IDA	19010420
GO:0006565	Process	L-serine catabolic process	IDA	18776696
GO:0006801	Process	Superoxide metabolic process	IEA
GO:0008652	Process	Amino acid biosynthetic process	IEA
GO:0009069	Process	Serine family amino acid metabolic process	IEA
GO:0010749	Process	Regulation of nitric oxide mediated signal transduction	IEA
GO:0016829	Function	Lyase activity	IEA
GO:0019343	Process	Cysteine biosynthetic process via cystathionine	IEA
GO:0019344	Process	Cysteine biosynthetic process	IDA	24416422
GO:0019344	Process	Cysteine biosynthetic process	IEA
GO:0019344	Process	Cysteine biosynthetic process	IEA
GO:0019346	Process	Transsulfuration	IEA
GO:0019448	Process	L-cysteine catabolic process	IDA	15520012
GO:0019825	Function	Oxygen binding	IDA	24515102
GO:0019899	Function	Enzyme binding	IPI	17087506
GO:0020037	Function	Heme binding	EXP	29410458
GO:0020037	Function	Heme binding	IDA	7929220, 24515102
GO:0020037	Function	Heme binding	IMP	18776696
GO:0021587	Process	Cerebellum morphogenesis	IEA
GO:0030170	Function	Pyridoxal phosphate binding	IDA	7929220, 18776696
GO:0031625	Function	Ubiquitin protein ligase binding	IPI	17087506
GO:0031667	Process	Response to nutrient levels	IEA
GO:0042262	Process	DNA protection	IMP	24534463
GO:0042802	Function	Identical protein binding	IPI	16189514, 19447967, 21900206, 25416956, 25502805, 31515488
GO:0042803	Function	Protein homodimerization activity	IDA	11483494
GO:0043066	Process	Negative regulation of apoptotic process	IEA
GO:0043418	Process	Homocysteine catabolic process	IDA	18776696, 24416422
GO:0044272	Process	Sulfur compound biosynthetic process	IEA
GO:0046328	Process	Regulation of JNK cascade	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0050421	Function	Nitrite reductase (NO-forming) activity	IDA	24416422
GO:0050667	Process	Homocysteine metabolic process	IDA	19010420, 20031578, 23981774
GO:0050667	Process	Homocysteine metabolic process	IEA
GO:0050667	Process	Homocysteine metabolic process	IEA
GO:0051593	Process	Response to folic acid	IEA
GO:0060135	Process	Maternal process involved in female pregnancy	IEA
GO:0060351	Process	Cartilage development involved in endochondral bone morphogenesis	IEA
GO:0070025	Function	Carbon monoxide binding	IDA	24515102
GO:0070026	Function	Nitric oxide binding	IDA	24416422, 24515102
GO:0070814	Process	Hydrogen sulfide biosynthetic process	IDA	15520012, 24416422
GO:0070814	Process	Hydrogen sulfide biosynthetic process	IEA
GO:0070814	Process	Hydrogen sulfide biosynthetic process	ISS
GO:0071456	Process	Cellular response to hypoxia	IEA
GO:0072341	Function	Modified amino acid binding	IDA	20031578
GO:0097746	Process	Blood vessel diameter maintenance	IEA
GO:1904047	Function	S-adenosyl-L-methionine binding	IDA	22985361

Other IDs

• MIM: 613381
• HGNC: 1550
• e!Ensembl: ENSG00000160200

Pathways

KEGG:

Glycine, serine and threonine metabolism
Cysteine and methionine metabolism
One carbon pool by folate
Metabolic pathways
Biosynthesis of amino acids

Reactome:

Cysteine formation from homocysteine

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Associated diseases

Causal
Disease merge term	Disease name	dbSNP ID	References
Connective Tissue Disease	Connective tissue disorder	rs5742905	N/A
Homocystinuria	classic homocystinuria, Homocystinuria, pyridoxine-responsive, homocystinuria	rs1234354755, rs121964966, rs121964969, rs1057516645, rs149119723, rs372010465, rs1555869979, rs763036586, rs757920190, rs375846341, rs766453711, rs121964964, rs775992753, rs1555874803, rs764160782, rs148865119, rs786204757, rs143124288, rs1555874263, rs398123151, rs1057517083, rs760417941, rs1981524462, rs777919630, rs771298943, rs1361324844, rs1555875292, rs762065361, rs1555875325, rs121964962, rs1434118781, rs1057517435, rs866630296, rs755625628, rs1057516256, rs373782713, rs121964972, rs763835246, rs5742905, rs778220779, rs1555871095, rs779250698, rs751464024, rs794727083, rs1555872787, rs863223433, rs786204466, rs121964967, rs781567152, rs863223432, rs1555874121, rs770095972, rs1347651454, rs865990681, rs1555873925, rs769080151, rs28934891, rs121964963, rs758236584, rs1170128038, rs781444670, rs1555876784, rs121964968, rs763290176, rs528689432, rs1555876755, rs760609383, rs767036273, rs863223435, rs886057100, rs786204679, rs1057516552, rs1057517373, rs773734233, rs121964973, rs755952006, rs1601339216, rs1555869934, rs748695461, rs775351239, rs1568932440, rs760214620, rs1555871188, rs141502207, rs199948079, rs1057516895, rs1304669003, rs1555869958, rs757428597, rs746575551	N/A
Hyperhomocysteinemia	hyperhomocysteinemia, thrombotic, cbs-related	rs760214620, rs143124288, rs199948079, rs1981524462, rs757428597, rs1234354755, rs149119723, rs121964962, rs1555869979, rs766453711, rs121964964, rs148865119, rs398123151, rs1057517083, rs376916741, rs777919630, rs757920190, rs375846341, rs775992753, rs1555875292, rs764160782, rs786204757, rs121964966, rs121964969, rs760417941, rs1434118781, rs771298943, rs1064794540, rs1361324844, rs755625628, rs1057516256, rs28934891, rs1064793703, rs5742905, rs779250698, rs1170128038, rs794727083, rs121964967, rs373782713, rs863223432, rs1555874121, rs377708532, rs865990681, rs1347651454, rs121964972, rs763835246, rs778220779, rs886057100, rs769080151, rs786204466, rs751464024, rs781567152, rs863223430, rs770095972, rs1601339216, rs1555876784, rs1983442077, rs763290176, rs758236584, rs528689432, rs1000697114, rs760609383, rs863223435, rs781444670, rs786204679, rs121964963, rs773734233, rs121964968, rs372010465, rs748695461, rs1057517373, rs775351239, rs1568932835, rs1555871188, rs121964973, rs755952006, rs1057516895, rs1555869958, rs763036586, rs762065361, rs1555874803	N/A
Mental retardation	intellectual disability	rs5742905	N/A
Thoracic Aortic Aneurysm And Aortic Dissection	familial thoracic aortic aneurysm and aortic dissection	rs141502207, rs121964973, rs755952006, rs375846341, rs121964969, rs149119723, rs121964964, rs148865119, rs764160782, rs121964962, rs771298943, rs373782713, rs1347651454, rs121964972, rs28934891, rs770095972, rs528689432, rs781444670, rs5742905, rs372010465	N/A

Associations from Text Mining
Disease Name	Relationship Type	References
Adenocarcinoma Follicular	Associate	30396922
Alzheimer Disease	Associate	18842138
Amaurosis hypertrichosis	Associate	31347285
Arsenic Poisoning	Associate	20670920
Bone Demineralization Pathologic	Associate	7611293
Brain Diseases Metabolic Inborn	Associate	23143240
Breast Neoplasms	Associate	35026764, 36361596, 38211443
Carcinogenesis	Associate	32957374
Carcinoma Renal Cell	Associate	24278388, 28668830, 32871814
Cardiovascular Diseases	Associate	18842138, 19733148, 32463541, 38062767
Cataract	Associate	34342182
Cerebral Infarction	Associate	33138824
Cerebrovascular Disorders	Associate	26405298
Cholangiocarcinoma	Associate	32957374
Chronic Limb Threatening Ischemia	Inhibit	25977470
Cleft Lip	Associate	27604992, 31663447
Cleft Palate	Associate	18203168, 31663447
Cognitive Dysfunction	Associate	35682634
Colonic Neoplasms	Associate	18774639
Colorectal Neoplasms	Associate	11889073, 23152928, 24667534, 27385096, 29670109, 36113340, 39324183
Congenital central hypoventilation syndrome	Associate	24894164
Congenital contractural arachnodactyly	Associate	27822905
Coronary Artery Disease	Associate	22738689, 35152560, 8940271
Coronary Artery Dissection Spontaneous	Associate	40194966
Dissection Blood Vessel	Associate	11872884
Down Syndrome	Associate	10438727, 11391481, 11415440, 11562358, 12393509, 17401539, 19633202, 21045269, 31481613, 32340322, 38266970, 8605357
Esophageal Squamous Cell Carcinoma	Associate	17726616
Gastrointestinal Neoplasms	Associate	17726616
Gastrointestinal Neoplasms	Inhibit	23152928
Genetic Diseases Inborn	Associate	15963701, 30732165
Glucosephosphate Dehydrogenase Deficiency	Associate	32463541
Glycogen Storage Disease 0 Muscle	Associate	641146, 7081217
Heart Defects Congenital	Associate	26035828
Heart Diseases	Associate	32463541
Hepatolenticular Degeneration	Associate	36553628
Hereditary pancreatitis	Associate	37603299
Homocystinuria	Associate	10531322, 11359213, 17072863, 17352495, 18194900, 19889633, 22333527, 23143240, 23981774, 25197074, 26667307, 28421128, 29352562, 30968424, 31301157, 32000841, 32057642, 32232970, 32929119, 33057012, 34342182, 36065636, 37949228, 38051092, 404147, 4531018, 641146, 6711564, 7611293, 7762555, 8755636, 8940271, 9889017
Homocystinuria	Inhibit	17540596, 36306676, 7081217, 9708897
Hyperhomocysteinemia	Associate	19107218, 19733148, 26405298, 30732165, 30916171, 31301157, 35929959
Hypertension	Associate	30916171, 33382484
Hypoxia	Associate	32417499, 35499052, 38287425
Hypoxia Brain	Associate	24416422
Hypoxia Brain	Inhibit	37892173
Idiopathic Interstitial Pneumonias	Associate	25058599
Inflammation	Associate	32800520, 33554726
Kidney Diseases	Associate	28668830
Labor Pain	Inhibit	29249255
Leukemia	Associate	35204649
Leukemia Lymphocytic Chronic B Cell	Associate	32156260
Leukemia Megakaryoblastic Acute	Associate	12393509
Leukemia Myeloid Acute	Associate	12393509
Lung Neoplasms	Associate	20600216, 27924828
Lymphatic Metastasis	Stimulate	32957374
Lymphoma Non Hodgkin	Stimulate	17119116
Lymphoma Non Hodgkin	Associate	23913011
Lymphoma Non Hodgkin	Inhibit	25384508
Malignant Hyperthermia	Associate	31051045
Melanoma	Associate	37892173
Meningomyelocele	Associate	21957013
Metabolic Diseases	Associate	25318605
Microvascular Angina	Associate	23778007
Mitochondrial Diseases	Associate	31481613, 32463541
Mouth Neoplasms	Associate	26749456
Multiple Myeloma	Associate	27060151
Multiple Sclerosis	Associate	24412677
Multiple Sclerosis Relapsing Remitting	Associate	24412677
Neoplasm Metastasis	Stimulate	30396922
Neoplasms	Associate	11889073, 12819026, 24633012, 24667534, 28668830, 29494264, 29670109, 32957374, 35795862, 39324183
Neoplasms	Stimulate	30396922
Neoplasms	Inhibit	35758651
Neoplasms Adipose Tissue	Associate	33554726
Neural Tube Defects	Associate	15060097
Neuroblastoma	Associate	28291844, 36361596
Neurodegenerative Diseases	Associate	27301638
Oncocytoma renal	Associate	28668830
Osteoporosis	Inhibit	33714972
Osteosarcoma	Associate	36254233
Ovarian Neoplasms	Associate	29494264
Pain	Associate	27060151
Parkinson Disease	Associate	36553628
Pneumothorax	Associate	27229674
Pre Eclampsia	Associate	22391326, 30380942
Pre Eclampsia	Inhibit	38569482
Prostatic Neoplasms	Inhibit	15735045
Pyruvate Carboxylase Deficiency Disease	Associate	16432849
Radial Neuropathy	Associate	35426918
Sarcopenia	Associate	35682634
Sepsis	Associate	26508567
Shock Septic	Associate	26508567
Sinus Thrombosis Intracranial	Associate	30732165
Sleep Deprivation	Associate	32463541
Sphingolipidoses	Associate	36313783
Spinal Dysraphism	Associate	12180146, 19683694
Stomach Diseases	Associate	29670109
Stomach Neoplasms	Inhibit	23152928, 35758651
Stomach Neoplasms	Associate	26078811, 29670109, 35499052
Stroke	Inhibit	11553004, 33382484
Stroke	Associate	11872884, 30916171, 36065636
Thyroid Cancer Papillary	Associate	30396922
Thyroid Neoplasms	Stimulate	30396922
Thyroid Neoplasms	Associate	35795862
Thyroiditis	Associate	30396922
Urethral Neoplasms	Associate	35605291
Vascular Diseases	Associate	32463541
Venous Thrombosis	Associate	28252168
Vitiligo	Associate	30720153