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GCH1 (GTP cyclohydrolase 1)

Gene

2643

GTP cyclohydrolase 1

GCH1

DYT14, DYT5, DYT5a, GCH, GTP-CH-1, GTPCH1, HPABH4B

14q22.2

This gene encodes a member of the GTP cyclohydrolase family. The encoded protein is the first and rate-limiting enzyme in tetrahydrobiopterin (BH4) biosynthesis, catalyzing the conversion of GTP into 7,8-dihydroneopterin triphosphate. BH4 is an essential

Show/Hide all(49)

SNP ID	Visualize variation	Clinical significance	Consequence
rs41298440	G>A	Pathogenic	Intron variant, coding sequence variant, stop gained
rs41298442	T>C,G	Pathogenic, uncertain-significance, likely-pathogenic	Intron variant, coding sequence variant, missense variant
rs56127440	G>A,C	Likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance, benign-likely-benign	Genic upstream transcript variant, coding sequence variant, missense variant
rs104894433	G>A,C,T	Pathogenic	Missense variant, coding sequence variant, synonymous variant, genic upstream transcript variant
rs104894434	A>G	Pathogenic	Missense variant, intron variant, coding sequence variant
rs104894435	C>T	Pathogenic	Missense variant, coding sequence variant, genic upstream transcript variant
rs104894436	C>A	Pathogenic	Missense variant, coding sequence variant
rs104894437	T>A	Pathogenic	Missense variant, coding sequence variant
rs104894438	C>T	Pathogenic	Missense variant, coding sequence variant
rs104894439	C>G	Pathogenic	Missense variant, genic upstream transcript variant, initiator codon variant
rs104894440	T>G	Pathogenic	Missense variant, coding sequence variant
rs104894441	A>T	Pathogenic	Missense variant, coding sequence variant
rs104894442	C>G	Pathogenic, uncertain-significance	Missense variant, intron variant, coding sequence variant
rs104894443	C>T	Pathogenic	Missense variant, intron variant, coding sequence variant
rs104894444	G>A,T	Pathogenic	Stop gained, coding sequence variant, genic upstream transcript variant, missense variant
rs104894445	C>T	Pathogenic	Missense variant, coding sequence variant
rs137852633	G>C	Pathogenic	Missense variant, coding sequence variant
rs139350456	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, genic upstream transcript variant
rs200891969	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs201255606	C>G,T	Pathogenic	Stop lost, terminator codon variant, intron variant, synonymous variant
rs763294577	G>T	Likely-pathogenic	Genic upstream transcript variant, missense variant, coding sequence variant
rs886039378	C>-	Likely-pathogenic	Coding sequence variant, stop gained
rs886039379	AT>-	Pathogenic	Coding sequence variant, intron variant, frameshift variant
rs886041708	C>T	Pathogenic	Coding sequence variant, stop gained, genic upstream transcript variant
rs988395114	C>T	Pathogenic	Coding sequence variant, missense variant
rs1064796560	C>T	Likely-pathogenic	Missense variant, coding sequence variant, genic upstream transcript variant
rs1353623780	C>T	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs1393095176	C>T	Likely-pathogenic, uncertain-significance	Coding sequence variant, genic upstream transcript variant, missense variant
rs1418922853	A>C,T	Likely-pathogenic	Missense variant, coding sequence variant
rs1555358382	G>A	Likely-pathogenic	Stop gained, coding sequence variant, intron variant
rs1555358507	C>A,T	Pathogenic	Splice donor variant
rs1555358599	C>A,G	Pathogenic	Splice donor variant
rs1555358604	C>G,T	Pathogenic	Splice acceptor variant
rs1555360034	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1555360050	C>G,T	Pathogenic	Splice acceptor variant
rs1555362835	->T	Pathogenic	Genic upstream transcript variant, coding sequence variant, frameshift variant
rs1555362845	AGCTCGTTATCC>T	Pathogenic	Genic upstream transcript variant, coding sequence variant, frameshift variant
rs1555362905	ACAGGGC>-	Likely-pathogenic	Genic upstream transcript variant, coding sequence variant, frameshift variant
rs1555362907	T>A,C	Pathogenic	Genic upstream transcript variant, missense variant, initiator codon variant
rs1566658823	A>G	Likely-pathogenic	Coding sequence variant, missense variant, intron variant
rs1566687244	G>A,T	Likely-pathogenic	Genic upstream transcript variant, coding sequence variant, missense variant
rs1566687321	AGGC>-	Pathogenic	Genic upstream transcript variant, coding sequence variant, frameshift variant
rs1566687487	->G	Pathogenic	Genic upstream transcript variant, coding sequence variant, frameshift variant
rs1594971274	T>A	Pathogenic	Stop gained, coding sequence variant
rs1594982939	TAC>CTCACA	Pathogenic	Splice donor variant, intron variant
rs1595031221	->C	Pathogenic	Frameshift variant, genic upstream transcript variant, coding sequence variant
rs1595031524	->CCTC	Pathogenic	Frameshift variant, genic upstream transcript variant, coding sequence variant
rs1595031674	C>-	Pathogenic	Frameshift variant, genic upstream transcript variant, coding sequence variant
rs1595031768	->AGA	Pathogenic	Inframe insertion, genic upstream transcript variant, coding sequence variant

Show/Hide all(125)

miRTarBase ID	miRNA	Experiments	Reference
MIRT002772	hsa-miR-1-3p	Microarray	15685193
MIRT018241	hsa-miR-335-5p	Microarray	18185580
MIRT022842	hsa-miR-124-3p	Microarray	18668037
MIRT002772	hsa-miR-1-3p	Microarray;Other	15685193
MIRT024891	hsa-miR-215-5p	Microarray	19074876
MIRT026625	hsa-miR-192-5p	Microarray	19074876
MIRT029667	hsa-miR-26b-5p	Microarray	19088304
MIRT050671	hsa-miR-18a-5p	CLASH	23622248
MIRT720800	hsa-miR-4802-3p	HITS-CLIP	19536157
MIRT720799	hsa-miR-942-3p	HITS-CLIP	19536157
MIRT720798	hsa-miR-490-5p	HITS-CLIP	19536157
MIRT720797	hsa-miR-494-3p	HITS-CLIP	19536157
MIRT720796	hsa-miR-1827	HITS-CLIP	19536157
MIRT720795	hsa-miR-6765-5p	HITS-CLIP	19536157
MIRT720794	hsa-miR-1304-5p	HITS-CLIP	19536157
MIRT720793	hsa-miR-8055	HITS-CLIP	19536157
MIRT720800	hsa-miR-4802-3p	HITS-CLIP	19536157
MIRT720799	hsa-miR-942-3p	HITS-CLIP	19536157
MIRT720798	hsa-miR-490-5p	HITS-CLIP	19536157
MIRT720797	hsa-miR-494-3p	HITS-CLIP	19536157
MIRT720796	hsa-miR-1827	HITS-CLIP	19536157
MIRT720795	hsa-miR-6765-5p	HITS-CLIP	19536157
MIRT720794	hsa-miR-1304-5p	HITS-CLIP	19536157
MIRT720793	hsa-miR-8055	HITS-CLIP	19536157
MIRT1014630	hsa-miR-1	CLIP-seq
MIRT1014631	hsa-miR-124	CLIP-seq
MIRT1014632	hsa-miR-1263	CLIP-seq
MIRT1014633	hsa-miR-1267	CLIP-seq
MIRT1014634	hsa-miR-1306	CLIP-seq
MIRT1014635	hsa-miR-1324	CLIP-seq
MIRT1014636	hsa-miR-193a-3p	CLIP-seq
MIRT1014637	hsa-miR-193b	CLIP-seq
MIRT1014638	hsa-miR-206	CLIP-seq
MIRT1014639	hsa-miR-2115	CLIP-seq
MIRT1014640	hsa-miR-27a	CLIP-seq
MIRT1014641	hsa-miR-27b	CLIP-seq
MIRT1014642	hsa-miR-299-5p	CLIP-seq
MIRT1014643	hsa-miR-323-5p	CLIP-seq
MIRT1014644	hsa-miR-34a	CLIP-seq
MIRT1014645	hsa-miR-34c-5p	CLIP-seq
MIRT1014646	hsa-miR-3545-3p	CLIP-seq
MIRT1014647	hsa-miR-3658	CLIP-seq
MIRT1014648	hsa-miR-3673	CLIP-seq
MIRT1014649	hsa-miR-3687	CLIP-seq
MIRT1014650	hsa-miR-3714	CLIP-seq
MIRT1014651	hsa-miR-3910	CLIP-seq
MIRT1014652	hsa-miR-4442	CLIP-seq
MIRT1014653	hsa-miR-4452	CLIP-seq
MIRT1014654	hsa-miR-4456	CLIP-seq
MIRT1014655	hsa-miR-449a	CLIP-seq
MIRT1014656	hsa-miR-449b	CLIP-seq
MIRT1014657	hsa-miR-4520a-3p	CLIP-seq
MIRT1014658	hsa-miR-4520b-3p	CLIP-seq
MIRT1014659	hsa-miR-4662a-3p	CLIP-seq
MIRT1014660	hsa-miR-4802-5p	CLIP-seq
MIRT1014661	hsa-miR-506	CLIP-seq
MIRT1014662	hsa-miR-513a-5p	CLIP-seq
MIRT1014663	hsa-miR-548ad	CLIP-seq
MIRT1014664	hsa-miR-590-3p	CLIP-seq
MIRT1014665	hsa-miR-613	CLIP-seq
MIRT1014666	hsa-miR-653	CLIP-seq
MIRT1014667	hsa-miR-659	CLIP-seq
MIRT1014668	hsa-miR-668	CLIP-seq
MIRT1014669	hsa-miR-765	CLIP-seq
MIRT1014670	hsa-miR-873	CLIP-seq
MIRT1014671	hsa-miR-876-3p	CLIP-seq
MIRT1014672	hsa-miR-892b	CLIP-seq
MIRT1014673	hsa-miR-9	CLIP-seq
MIRT1014631	hsa-miR-124	CLIP-seq
MIRT1014674	hsa-miR-203	CLIP-seq
MIRT1014675	hsa-miR-2681	CLIP-seq
MIRT1014676	hsa-miR-3201	CLIP-seq
MIRT1014677	hsa-miR-323b-3p	CLIP-seq
MIRT1014678	hsa-miR-3613-3p	CLIP-seq
MIRT1014679	hsa-miR-361-3p	CLIP-seq
MIRT1014647	hsa-miR-3658	CLIP-seq
MIRT1014650	hsa-miR-3714	CLIP-seq
MIRT1014651	hsa-miR-3910	CLIP-seq
MIRT1014659	hsa-miR-4662a-3p	CLIP-seq
MIRT1014680	hsa-miR-4668-3p	CLIP-seq
MIRT1014681	hsa-miR-4694-3p	CLIP-seq
MIRT1014682	hsa-miR-4791	CLIP-seq
MIRT1014683	hsa-miR-499-3p	CLIP-seq
MIRT1014684	hsa-miR-499a-3p	CLIP-seq
MIRT1014661	hsa-miR-506	CLIP-seq
MIRT1014685	hsa-miR-548ac	CLIP-seq
MIRT1014686	hsa-miR-548c-3p	CLIP-seq
MIRT1014687	hsa-miR-548d-3p	CLIP-seq
MIRT1014688	hsa-miR-548m	CLIP-seq
MIRT1014689	hsa-miR-548z	CLIP-seq
MIRT1014690	hsa-miR-605	CLIP-seq
MIRT1014691	hsa-miR-875-5p	CLIP-seq
MIRT1014692	hsa-miR-888	CLIP-seq
MIRT1014636	hsa-miR-193a-3p	CLIP-seq
MIRT1014637	hsa-miR-193b	CLIP-seq
MIRT1014644	hsa-miR-34a	CLIP-seq
MIRT1014645	hsa-miR-34c-5p	CLIP-seq
MIRT1014655	hsa-miR-449a	CLIP-seq
MIRT1014656	hsa-miR-449b	CLIP-seq
MIRT1014672	hsa-miR-892b	CLIP-seq
MIRT1014644	hsa-miR-34a	CLIP-seq
MIRT1014645	hsa-miR-34c-5p	CLIP-seq
MIRT1014655	hsa-miR-449a	CLIP-seq
MIRT1014656	hsa-miR-449b	CLIP-seq
MIRT2000450	hsa-miR-4511	CLIP-seq
MIRT2000451	hsa-miR-4799-5p	CLIP-seq
MIRT2000452	hsa-miR-548b-3p	CLIP-seq
MIRT1014632	hsa-miR-1263	CLIP-seq
MIRT1014634	hsa-miR-1306	CLIP-seq
MIRT2233944	hsa-miR-142-5p	CLIP-seq
MIRT1014636	hsa-miR-193a-3p	CLIP-seq
MIRT1014637	hsa-miR-193b	CLIP-seq
MIRT1014644	hsa-miR-34a	CLIP-seq
MIRT1014645	hsa-miR-34c-5p	CLIP-seq
MIRT1014655	hsa-miR-449a	CLIP-seq
MIRT1014656	hsa-miR-449b	CLIP-seq
MIRT1014657	hsa-miR-4520a-3p	CLIP-seq
MIRT1014658	hsa-miR-4520b-3p	CLIP-seq
MIRT1014663	hsa-miR-548ad	CLIP-seq
MIRT2233945	hsa-miR-561	CLIP-seq
MIRT1014664	hsa-miR-590-3p	CLIP-seq
MIRT2233946	hsa-miR-603	CLIP-seq
MIRT1014667	hsa-miR-659	CLIP-seq
MIRT1014672	hsa-miR-892b	CLIP-seq
MIRT1014673	hsa-miR-9	CLIP-seq

Show/Hide all(48)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003924	Function	GTPase activity	IDA	2463916
GO:0003934	Function	GTP cyclohydrolase I activity	IBA	21873635
GO:0003934	Function	GTP cyclohydrolase I activity	IDA	7730309, 7874165, 16778797
GO:0005509	Function	Calcium ion binding	IEA
GO:0005515	Function	Protein binding	IPI	9092499, 16696853, 19294699, 21988832, 32296183
GO:0005525	Function	GTP binding	IBA	21873635
GO:0005525	Function	GTP binding	IDA	3753653, 14717702
GO:0005634	Component	Nucleus	IDA	16778797
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IBA	21873635
GO:0005737	Component	Cytoplasm	IDA	10907721
GO:0005829	Component	Cytosol	IDA	2463916, 3318829
GO:0005829	Component	Cytosol	TAS
GO:0006729	Process	Tetrahydrobiopterin biosynthetic process	IBA	21873635
GO:0006729	Process	Tetrahydrobiopterin biosynthetic process	IDA	7678411, 9445252
GO:0006729	Process	Tetrahydrobiopterin biosynthetic process	IMP	17101830, 19666465
GO:0006809	Process	Nitric oxide biosynthetic process	NAS	9445252
GO:0008217	Process	Regulation of blood pressure	IMP	17717598
GO:0008270	Function	Zinc ion binding	IBA	21873635
GO:0008270	Function	Zinc ion binding	IDA	11087827, 14717702
GO:0010460	Process	Positive regulation of heart rate	IEA
GO:0014916	Process	Regulation of lung blood pressure	IEA
GO:0030742	Function	GTP-dependent protein binding	IEA
GO:0031369	Function	Translation initiation factor binding	IEA
GO:0031410	Component	Cytoplasmic vesicle	IDA	3318829
GO:0031965	Component	Nuclear membrane	IDA
GO:0032496	Process	Response to lipopolysaccharide	IDA	7678411, 9445252
GO:0032496	Process	Response to lipopolysaccharide	IEP	15604419
GO:0032991	Component	Protein-containing complex	IDA	11087823
GO:0034341	Process	Response to interferon-gamma	IDA	7678411, 9445252, 12607127
GO:0034612	Process	Response to tumor necrosis factor	IDA	9445252
GO:0035998	Process	7,8-dihydroneopterin 3'-triphosphate biosynthetic process	IEA
GO:0042311	Process	Vasodilation	IEA
GO:0042416	Process	Dopamine biosynthetic process	IDA	16338639
GO:0042559	Process	Pteridine-containing compound biosynthetic process	IDA	2463916, 3753653, 15721862
GO:0042802	Function	Identical protein binding	IPI	11087827
GO:0042803	Function	Protein homodimerization activity	IPI	16696853
GO:0044306	Component	Neuron projection terminus	TAS	23457032
GO:0044877	Function	Protein-containing complex binding	IEA
GO:0045776	Process	Negative regulation of blood pressure	IEA
GO:0046654	Process	Tetrahydrofolate biosynthetic process	IEA
GO:0048265	Process	Response to pain	ISS
GO:0050884	Process	Neuromuscular process controlling posture	IMP	7874165
GO:0051000	Process	Positive regulation of nitric-oxide synthase activity	IDA	12176133, 15721862
GO:0051000	Process	Positive regulation of nitric-oxide synthase activity	IMP	17717598, 19666465
GO:0051019	Function	Mitogen-activated protein kinase binding	IPI	19294699
GO:0065003	Process	Protein-containing complex assembly	IEA
GO:2000121	Process	Regulation of removal of superoxide radicals	IMP	19666465

MIM	HGNC	e!Ensembl
600225	4193	ENSG00000131979

Protein

UniProt ID

P30793

Protein name

GTP cyclohydrolase 1 (EC 3.5.4.16) (GTP cyclohydrolase I) (GTP-CH-I)

Protein function

Positively regulates nitric oxide synthesis in umbilical vein endothelial cells (HUVECs). May be involved in dopamine synthesis. May modify pain sensitivity and persistence. Isoform GCH-1 is the functional enzyme, the potential function of the e

PDB

1FB1 , 6Z80 , 6Z85 , 6Z86 , 6Z87 , 6Z88 , 6Z89 , 7ALA , 7ALB , 7ALC , 7ALQ

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01227	GTP_cyclohydroI	71 → 249	GTP cyclohydrolase I	Domain

Sequence

MEKGPVRAPAEKPRGARCSNGFPERDPPRPGPSRPAEKPPRPEAKSAQPADGWKGERPRS
EEDNELNLPNLAAAYSSILSSLGENPQRQGLLKTPWRAASAMQFFTKGYQETISDVLNDA
IFDEDHDEMVIVKDIDMFSMCEHHLVPFVGKVHIGYLPNKQVLGLSKLARIVEIYSRRLQ
VQERLTKQIAVAITEALRPAGVGVVVEATHMCMVMRGVQKMNSKTVTSTMLGVFREDPKT
REEFLTLIRS

Sequence length

250

Interactions

View interactions

	KEGG		Reactome
	Folate biosynthesis Metabolic pathways Biosynthesis of cofactors		Tetrahydrobiopterin (BH4) synthesis, recycling, salvage and regulation

Associated diseases

Show/Hide Causal Diseases (12)

Causal
Disease name	Disease term	dbSNP ID	References
6-pyruvoyl-tetrahydropterin synthase deficiency	6-pyruvoyl-tetrahydropterin synthase deficiency	rs104894273, rs104894274, rs104894275, rs104894276, rs104894277, rs104894280, rs1555198165, rs62642937, rs74486803, rs77958223, rs62514909, rs199475647, rs199475679, rs62514931, rs62514957, rs145882709, rs1057517811, rs1057517810, rs775426269, rs1167104933, rs370340361, rs1555198233, rs770387277, rs1256819927, rs866922524, rs765406631, rs200712908, rs779681799, rs1449216377, rs200279736, rs1555198451, rs776543880, rs747260038, rs1555198263, rs1555198462, rs1555198483, rs927103678, rs1230781262, rs750229518, rs1555198494, rs780332520, rs781197929, rs1577191558, rs761285716, rs1859972447
Developmental delay	Global developmental delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291, rs886041382, rs1057518991, rs1057518699, rs753254213, rs748294403, rs762552974, rs1135401795, rs1553121073, rs1553122926, rs1364690005, rs1554086554, rs1554210415, rs1554168326, rs1554776342, rs1553873247, rs1567860112, rs779009256, rs1557447255, rs1564568350, rs780011005, rs1597464953, rs1200336864, rs1569513017, rs1587459606, rs1570332505, rs748888652, rs1575155995, rs2087029320, rs1589669105, rs1601769604, rs1184981709, rs749201074
Dystonia, dopa-responsive, with or without hyperphenylalaninemia	DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder)	rs2140074192, rs137852633
Gtp cyclohydrolase i deficiency	GTP cyclohydrolase I deficiency	rs104894276, rs104894443, rs104894445, rs1418922853, rs1566658823, rs41298440, rs1595031768
Hyperphenylalaninemia	Hyperphenylalaninaemia, Hyperphenylalaninemia, BH4-Deficient, B	rs104894274, rs794726656, rs104894278, rs62514958, rs5030856, rs62517167, rs1035794099, rs775029664, rs1589052989, rs770562664, rs1273776043, rs569240271, rs761235755, rs1277990552, rs370032864, rs1841794635, rs755829473, rs1841794857	27830117, 8619546, 11486899, 27604308, 20842687, 7501255, 10496263, 17101830, 20082337, 15753436, 9667588, 17898029, 27246466, 15303002, 21935284, 16917893, 20491893, 7874165, 23211702, 18276179, 9749603, 19332422, 8852666, 19491146, 20108370, 10457396, 10984670
Hypertension	Hypertensive disease	rs13306026, rs13333226	12855421
Hypothyroidism	Hypothyroidism	rs869320723, rs121908862, rs121908863, rs121908865, rs121908866, rs121908867, rs121908870, rs121908871, rs121908872, rs2140110277, rs121908881, rs121908884, rs121908885, rs786205080, rs1586182912, rs121917847, rs104893655, rs104893657, rs104893658, rs104893659, rs104893660, rs104893656, rs121917719, rs786204790, rs189261858, rs879255608, rs868197660, rs879255609, rs1586744173, rs1586182837, rs771222349, rs1587618417, rs1601844140, rs760832986, rs780982673, rs1603336347, rs1691155605
Parkinson disease	Parkinsonian Disorders, Parkinson Disease	rs116074753, rs118203903, rs118203904, rs115735611, rs33939927, rs35801418, rs34805604, rs35870237, rs34995376, rs74315355, rs28940284, rs74315356, rs74315357, rs28940285, rs730880302, rs750664040, rs74315359, rs74315360, rs45539432, rs74315361, rs119451946, rs80356771, rs74500255, rs75822236, rs1141814, rs78973108, rs121908681, rs121908686, rs121908687, rs137853054, rs137853055, rs137853056, rs137853057, rs137853058, rs137853059, rs34424986, rs137853060, rs397518439, rs28938172, rs74315351, rs74315353, rs137853051, rs118192098, rs121917767, rs121918104, rs1589451049, rs104893877, rs104893878, rs283413, rs112176450, rs111290936, rs188286943, rs387906863, rs387906864, rs774631197, rs199935023, rs387906942, rs397514694, rs398122403, rs398122404, rs398122405, rs104886460, rs409652, rs431905511, rs63751392, rs756677845, rs864309527, rs864309650, rs750014782, rs1554391082, rs864622011, rs869312810, rs869312809, rs869312811, rs369100678, rs879253853, rs869320761, rs747506979, rs879255630, rs886039854, rs191486604, rs781442277, rs1060499619, rs751037529, rs55777503, rs768091663, rs34208370, rs1553122929, rs772786691, rs754809877, rs1555907463, rs1557561340, rs781600849, rs141263564, rs1557901552, rs777160388, rs756783990, rs867929413, rs1237637353, rs1005937012, rs755000580, rs747427602, rs1578089802, rs771586218, rs748142049, rs1582953433, rs746646126, rs771529549, rs121918106	27182965, 25064009, 28892059
Rheumatoid arthritis	Rheumatoid Arthritis	rs3766379, rs3792876, rs2071592, rs3087456, rs587776843, rs1566328963, rs2240340, rs1557787212
Schizophrenia	Schizophrenia	rs74315508, rs74315509, rs13447324, rs1558507406, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346, rs863223347, rs863223351, rs863223352, rs61734270, rs797045205, rs869312829, rs869312830, rs770913157, rs869312832, rs869312831, rs781720548, rs1262969313	25270546
Scoliosis	Scoliosis, unspecified	rs1057518828, rs147296805, rs758163506, rs1555613564, rs1596852902, rs1596853067, rs1596853085
Spastic paraplegia	Spastic Paraplegia	rs118204049, rs121918262, rs104894490, rs119476046, rs281865117, rs281865118, rs137853017, rs72554620, rs121908610, rs121908611, rs121908613, rs116171274, rs121434442, rs121434443, rs137852520, rs137852521, rs137852524, rs137852525, rs879253716, rs387906970, rs587776888, rs759947457, rs587776891, rs753426920, rs387907057, rs397514478, rs387907285, rs387907287, rs387907288, rs281865120, rs397514513, rs141431913, rs312262755, rs398123013, rs398123014, rs398122382, rs745744124, rs483352924, rs483352925, rs587777222, rs587779388, rs587783179, rs587783772, rs587784383, rs587784384, rs730882249, rs762947018, rs786204628, rs141315518, rs786204416, rs786204750, rs770866403, rs775059063, rs797044787, rs794729214, rs794729215, rs797045050, rs370828455, rs146262009, rs797045244, rs780247476, rs185246578, rs766773277, rs863224494, rs752669339, rs869320690, rs200737038, rs869312914, rs752283089, rs751713917, rs756205995, rs875989787, rs875989845, rs375817528, rs200440467, rs876661295, rs794727501, rs770285398, rs878854745, rs878854975, rs878855013, rs878855011, rs878855083, rs878853979, rs879255397, rs879255396, rs886039410, rs886039409, rs886039407, rs886039408, rs886039405, rs886039406, rs752598529, rs752059006, rs202199411, rs886041949, rs886041127, rs886042238, rs1057517123, rs747868017, rs1057517294, rs565203731, rs753205260, rs1057517002, rs779338945, rs755186798, rs1057517250, rs1057517060, rs753012964, rs758572409, rs1057516959, rs1057516438, rs145766983, rs1057516689, rs1057516932, rs1057516635, rs1057517366, rs759166250, rs1057517138, rs761089024, rs1057517297, rs1057517311, rs1057516779, rs1057517039, rs1057517285, rs1057516365, rs1057516625, rs1057516987, rs1057516837, rs1057518016, rs1057518880, rs1057518697, rs1057519289, rs1057519290, rs1057519291, rs1057519292, rs1057519293, rs1057521784, rs1060499756, rs1060499771, rs1060502224, rs1060502523, rs371019314, rs1060503431, rs774906736, rs372350326, rs776976178, rs370837940, rs1064793162, rs1064793920, rs1555177629, rs1555394376, rs377445018, rs767024102, rs768176054, rs1557090943, rs1557090161, rs1555178616, rs1555251539, rs754439135, rs1321353475, rs1555186937, rs767871841, rs867249938, rs1440541889, rs1555456727, rs1268722908, rs1557092247, rs1557092248, rs765632065, rs773246271, rs1554380391, rs1554517327, rs200268523, rs1156566314, rs1160357920, rs773182375, rs768366199, rs774809466, rs1555542889, rs915291720, rs1021034246, rs769676029, rs746979262, rs1033093801, rs955142329, rs760559263, rs1557091773, rs1372213267, rs1557091678, rs1402429085, rs1555179091, rs1555179087, rs374128662, rs142209254, rs1553259463, rs1555254256, rs755820725, rs1335804396, rs568176223, rs1555979596, rs780030221, rs1553314978, rs923921184, rs1556840029, rs374894037, rs1553262438, rs1555249362, rs950356390, rs1557091278, rs1557090220, rs1259615333, rs1555249276, rs1555249425, rs1555249479, rs1555249555, rs1555250949, rs1555252349, rs1167474602, rs1175545518, rs1555249648, rs1555249878, rs1400601705, rs1555252086, rs745907077, rs1555249371, rs1555249904, rs1555393393, rs1028098148, rs766711286, rs767164213, rs1470672632, rs1555252184, rs1224762841, rs769329153, rs1555254734, rs1555397331, rs941230062, rs545219731, rs200832994, rs1555250255, rs1240368715, rs1555393338, rs1049504575, rs1485209013, rs868672014, rs1214483973, rs558285072, rs1555398241, rs1186788102, rs981804211, rs935301743, rs1555251822, rs1555255676, rs369459721, rs772400670, rs1558119445, rs759033144, rs1565705251, rs1566055368, rs1566058677, rs1006060877, rs1448182827, rs1569544908, rs754944359, rs754944429, rs1569544723, rs1569285562, rs367916692, rs1566893090, rs1177577061, rs1566881181, rs1569280986, rs1590847310, rs746220436, rs1569281085, rs529495094, rs1563920268, rs1563920252, rs1563920172, rs1563919973, rs1563920000, rs1563920132, rs751568153, rs1569274606, rs1455411788, rs1571908452, rs768640920, rs1578729121, rs1585896928, rs1585808059, rs1588001500, rs1011987148, rs1594915468, rs1594925773, rs1361370524, rs1593121507, rs1365858851, rs1593125341, rs1181477970, rs1593129673, rs1593133395, rs1593133714, rs1593144167, rs1593144544, rs1593144887, rs767435985, rs1593147785, rs994374354, rs1593157923, rs1594900921, rs1594906944, rs1594910045, rs1594913346, rs1594930532, rs1594938339, rs140354725, rs1418885000, rs1603275195, rs1603276234, rs1574077569, rs1603275315, rs1587878722, rs1587879449, rs1593133607, rs770490672, rs1602099961, rs778722037, rs756830713, rs1593121484, rs763869212, rs1594912625, rs1597556143, rs778113360, rs377278120, rs933233143, rs1572337800, rs1573072864, rs1593125290, rs1593126754, rs1593123432, rs1571563769, rs1584514057, rs772704931, rs1587878961, rs1802811311, rs1052410160, rs1298132281, rs748480664, rs139015012, rs1340636078, rs927804920, rs1883405453, rs1883566609, rs1868403104, rs1868480299, rs1868481514, rs1868567420, rs1868626730, rs1868628768, rs1868872666, rs1869006331, rs769212398, rs757179309, rs2039098098, rs2039228359, rs774867891, rs2039613696, rs2039616151, rs2039786680, rs2039997721, rs748149642, rs2040215878, rs760484081, rs1204169977, rs367665974, rs201311640, rs1034820850, rs1930458591, rs1882179247, rs2039758874, rs1885117995, rs1805435464	21935284

Show/Hide Unknown Diseases (15)

Unknown
Disease name	Disease term	dbSNP ID	References
Anxiety disorder	Anxiety
Choreoathetosis	Choreoathetosis
Congenital clubfoot	Congenital clubfoot
Dyskinesia	Dyskinesia, Drug-Induced		15659429
Dysphagia	Deglutition Disorders
Dyssomnia	Dyssomnias
Horizontal nystagmus	Horizontal Nystagmus
Mental depression	Depressive disorder	rs587778876, rs587778877
Myocardial ischemia	Myocardial Ischemia		16214533
Nonorganic psychosis	Nonorganic psychosis		25270546
Obsessive-compulsive disorder	Obsessive compulsive behavior
Psychosis	Psychotic Disorders		25270546
Sleep disorders	Sleep Disorders
Transient hyperphenylalaninemia	Transient hyperphenylalaninemia
Writer`s cramp	Writer`s Cramp

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