SPR (sepiapterin reductase)

Gene

• Entrez ID: 6697
• Gene name: Sepiapterin reductase
• Gene symbol: SPR
• Synonyms (NCBI Gene): SDR38C1
• Chromosome: 2
• Chromosome location: 2p13.2
• Summary: This gene encodes an aldo-keto reductase that catalyzes the NADPH-dependent reduction of pteridine derivatives and is important in the biosynthesis of tetrahydrobiopterin (BH4). Mutations in this gene result in DOPA-responsive dystonia due to sepiaterin r

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs104893665	A>G	Pathogenic	Coding sequence variant, missense variant
rs104893666	C>T	Pathogenic	Coding sequence variant, missense variant
rs121917746	C>T	Pathogenic	Stop gained, coding sequence variant
rs121917747	A>T	Pathogenic	Stop gained, coding sequence variant
rs146349901	C>G,T	Likely-benign, pathogenic, uncertain-significance	Coding sequence variant, synonymous variant, stop gained
rs200845457	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs387907200	G>A,T	Pathogenic	Coding sequence variant, missense variant
rs398122922	A>G	Pathogenic	Splice acceptor variant
rs587776777	AGAAC>-	Pathogenic	Coding sequence variant, frameshift variant
rs779204655	C>T	Pathogenic	Coding sequence variant, stop gained
rs1453510719	C>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1553498582	G>-	Pathogenic	Coding sequence variant, splice acceptor variant
rs1553498611	ATAA>-	Likely-pathogenic	Frameshift variant, terminator codon variant
rs1573881742	->GGGCGGGCTG	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1573882268	A>G	Pathogenic	Splice acceptor variant
rs1573882444	G>T	Likely-pathogenic	Coding sequence variant, stop gained

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT032464	hsa-let-7b-5p	Proteomics	18668040
MIRT1385586	hsa-miR-1207-5p	CLIP-seq
MIRT1385587	hsa-miR-1236	CLIP-seq
MIRT1385588	hsa-miR-124	CLIP-seq
MIRT1385589	hsa-miR-1286	CLIP-seq
MIRT1385590	hsa-miR-214	CLIP-seq
MIRT1385591	hsa-miR-3182	CLIP-seq
MIRT1385592	hsa-miR-3616-3p	CLIP-seq
MIRT1385593	hsa-miR-3619-5p	CLIP-seq
MIRT1385594	hsa-miR-3714	CLIP-seq
MIRT1385595	hsa-miR-3910	CLIP-seq
MIRT1385596	hsa-miR-4267	CLIP-seq
MIRT1385597	hsa-miR-4436b-3p	CLIP-seq
MIRT1385598	hsa-miR-4690-5p	CLIP-seq
MIRT1385599	hsa-miR-4721	CLIP-seq
MIRT1385600	hsa-miR-4763-3p	CLIP-seq
MIRT1385601	hsa-miR-506	CLIP-seq
MIRT1385602	hsa-miR-549	CLIP-seq
MIRT1385603	hsa-miR-761	CLIP-seq
MIRT1385604	hsa-miR-940	CLIP-seq
MIRT2115397	hsa-miR-1252	CLIP-seq
MIRT2115398	hsa-miR-1273d	CLIP-seq
MIRT2115399	hsa-miR-1275	CLIP-seq
MIRT2115400	hsa-miR-1293	CLIP-seq
MIRT2115401	hsa-miR-1302	CLIP-seq
MIRT2115402	hsa-miR-150	CLIP-seq
MIRT2115403	hsa-miR-1587	CLIP-seq
MIRT2115404	hsa-miR-1913	CLIP-seq
MIRT2115405	hsa-miR-1915	CLIP-seq
MIRT2115406	hsa-miR-299-3p	CLIP-seq
MIRT2115407	hsa-miR-3127-3p	CLIP-seq
MIRT2115408	hsa-miR-324-3p	CLIP-seq
MIRT2115409	hsa-miR-346	CLIP-seq
MIRT2115410	hsa-miR-3529	CLIP-seq
MIRT2115411	hsa-miR-3667-3p	CLIP-seq
MIRT2115412	hsa-miR-379	CLIP-seq
MIRT2115413	hsa-miR-3913-3p	CLIP-seq
MIRT2115414	hsa-miR-4265	CLIP-seq
MIRT2115415	hsa-miR-4296	CLIP-seq
MIRT2115416	hsa-miR-4298	CLIP-seq
MIRT2115417	hsa-miR-4322	CLIP-seq
MIRT2115418	hsa-miR-4417	CLIP-seq
MIRT2115419	hsa-miR-4428	CLIP-seq
MIRT2115420	hsa-miR-4451	CLIP-seq
MIRT2115421	hsa-miR-4476	CLIP-seq
MIRT2115422	hsa-miR-4483	CLIP-seq
MIRT2115423	hsa-miR-4491	CLIP-seq
MIRT2115424	hsa-miR-4492	CLIP-seq
MIRT2115425	hsa-miR-4498	CLIP-seq
MIRT2115426	hsa-miR-4505	CLIP-seq
MIRT2115427	hsa-miR-4525	CLIP-seq
MIRT2115428	hsa-miR-4533	CLIP-seq
MIRT2115429	hsa-miR-4536	CLIP-seq
MIRT2115430	hsa-miR-4650-3p	CLIP-seq
MIRT2115431	hsa-miR-4651	CLIP-seq
MIRT2115432	hsa-miR-4656	CLIP-seq
MIRT2115433	hsa-miR-4657	CLIP-seq
MIRT2115434	hsa-miR-4665-5p	CLIP-seq
MIRT2115435	hsa-miR-4675	CLIP-seq
MIRT2115436	hsa-miR-4688	CLIP-seq
MIRT2115437	hsa-miR-4691-5p	CLIP-seq
MIRT2115438	hsa-miR-4713-5p	CLIP-seq
MIRT2115439	hsa-miR-4723-5p	CLIP-seq
MIRT2115440	hsa-miR-4728-5p	CLIP-seq
MIRT2115441	hsa-miR-4741	CLIP-seq
MIRT2115442	hsa-miR-532-3p	CLIP-seq
MIRT2115443	hsa-miR-545	CLIP-seq
MIRT2115444	hsa-miR-608	CLIP-seq
MIRT2115445	hsa-miR-625	CLIP-seq
MIRT2115446	hsa-miR-637	CLIP-seq
MIRT2115447	hsa-miR-661	CLIP-seq
MIRT2115448	hsa-miR-759	CLIP-seq
MIRT2115449	hsa-miR-762	CLIP-seq
MIRT2115450	hsa-miR-938	CLIP-seq
MIRT2338094	hsa-miR-1225-3p	CLIP-seq
MIRT2115399	hsa-miR-1275	CLIP-seq
MIRT2115400	hsa-miR-1293	CLIP-seq
MIRT2338095	hsa-miR-1343	CLIP-seq
MIRT2115402	hsa-miR-150	CLIP-seq
MIRT2115407	hsa-miR-3127-3p	CLIP-seq
MIRT2338096	hsa-miR-3168	CLIP-seq
MIRT2115410	hsa-miR-3529	CLIP-seq
MIRT2115412	hsa-miR-379	CLIP-seq
MIRT2338097	hsa-miR-3976	CLIP-seq
MIRT2338098	hsa-miR-4450	CLIP-seq
MIRT2115420	hsa-miR-4451	CLIP-seq
MIRT2115422	hsa-miR-4483	CLIP-seq
MIRT2115427	hsa-miR-4525	CLIP-seq
MIRT2115429	hsa-miR-4536	CLIP-seq
MIRT2115430	hsa-miR-4650-3p	CLIP-seq
MIRT2115431	hsa-miR-4651	CLIP-seq
MIRT2115434	hsa-miR-4665-5p	CLIP-seq
MIRT2338099	hsa-miR-4667-5p	CLIP-seq
MIRT2338100	hsa-miR-4700-5p	CLIP-seq
MIRT2115438	hsa-miR-4713-5p	CLIP-seq
MIRT2115439	hsa-miR-4723-5p	CLIP-seq
MIRT2115440	hsa-miR-4728-5p	CLIP-seq
MIRT2115442	hsa-miR-532-3p	CLIP-seq
MIRT2115444	hsa-miR-608	CLIP-seq
MIRT2115445	hsa-miR-625	CLIP-seq
MIRT2115446	hsa-miR-637	CLIP-seq
MIRT2115447	hsa-miR-661	CLIP-seq
MIRT2338101	hsa-miR-665	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004033	Function	Aldo-keto reductase (NADP) activity	TAS	1883349
GO:0004757	Function	Sepiapterin reductase activity	IBA	21873635
GO:0004757	Function	Sepiapterin reductase activity	ISS
GO:0005654	Component	Nucleoplasm	IDA
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	TAS
GO:0006729	Process	Tetrahydrobiopterin biosynthetic process	IBA	21873635
GO:0006729	Process	Tetrahydrobiopterin biosynthetic process	TAS	1883349
GO:0006809	Process	Nitric oxide biosynthetic process	IDA	15197144
GO:0050661	Function	NADP binding	TAS	1883349
GO:0050999	Process	Regulation of nitric-oxide synthase activity	TAS
GO:0070062	Component	Extracellular exosome	HDA	19056867, 23533145

Other IDs

• MIM: 182125
• HGNC: 11257
• e!Ensembl: ENSG00000116096

Protein

• UniProt ID: P35270
• Protein name: Sepiapterin reductase (SPR) (EC 1.1.1.153)
• Protein function: Catalyzes the final one or two reductions in tetra-hydrobiopterin biosynthesis to form 5,6,7,8-tetrahydrobiopterin.
• PDB: 1Z6Z, 4HWK, 4J7U, 4J7X, 4XWY, 4Z3K, 6I6C, 6I6F, 6I6P, 6I6T, 6I6V, 6I79, 6USN, 7DSF
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00106	adh_short	8 → 214	short chain dehydrogenase	Domain

• Sequence:

  MEGGLGRAVCLLTGASRGFGRTLAPLLASLLSPGSVLVLSARNDEALRQLEAELGAERSG
  LRVVRVPADLGAEAGLQQLLGALRELPRPKGLQRLLLINNAGSLGDVSKGFVDLSDSTQV
  NNYWALNLTSMLCLTSSVLKAFPDSPGLNRTVVNISSLCALQPFKGWALYCAGKAARDML
  FQVLALEEPNVRVLNYAPGPLDTDMQQLARETSVDPDMRKGLQELKAKGKLVDCKVSAQK
  LLSLLEKDEFKSGAHVDFYDK

• Sequence length: 261

Pathways

KEGG:

Folate biosynthesis
Metabolic pathways
Biosynthesis of cofactors

Reactome:

Tetrahydrobiopterin (BH4) synthesis, recycling, salvage and regulation
eNOS activation

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Cerebral palsy	Cerebral Palsy	rs121918149, rs75184679, rs730880264, rs587777428, rs797045067, rs767399782, rs564185858, rs886039513
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
Mental retardation	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	16650784
Microcephaly	Microcephaly	rs397704721, rs267607176, rs267607177, rs397704725, rs267606717, rs267606718, rs199422202, rs121434311, rs199422203, rs199422126, rs387906274, rs121434305, rs199422125, rs199422135, rs189678019, rs199422184, rs137852994, rs137852995, rs137852996, rs137852997, rs145489194, rs80338860, rs137852494, rs121918609, rs199422207, rs199422206, rs29001566, rs864321658, rs199422138, rs199422139, rs199422141, rs199422144, rs199422147, rs199422151, rs199422152, rs199422153, rs199422157, rs199422159, rs199422160, rs199422161, rs140602858, rs199422164, rs199422165, rs148294838, rs199422134, rs199422168, rs199422172, rs199422173, rs199422131, rs199422177, rs199422180, rs199422185, rs199422186, rs199422187, rs143931757, rs199422189, rs199422192, rs199422194, rs199422195, rs199422196, rs199422197, rs199422199, rs753597039, rs1488084787, rs387906961, rs755862917, rs387907082, rs587776899, rs387907083, rs587776900, rs587776901, rs387907084, rs863223322, rs764201220, rs202247811, rs763915472, rs587776986, rs587777036, rs398122971, rs374351172, rs373278668, rs398122976, rs121909123, rs587783393, rs730882076, rs587783211, rs144716013, rs606231255, rs587783215, rs587783216, rs587783220, rs587783221, rs587783225, rs587783227, rs587783228, rs587783230, rs587783238, rs587783239, rs587783240, rs587783245, rs587783247, rs587783248, rs587783258, rs587783259, rs587783263, rs587783265, rs587783268, rs587783269, rs587783272, rs587783275, rs587783277, rs587783278, rs587783280, rs587783282, rs587783283, rs587783285, rs587783287, rs587783288, rs587783289, rs587783292, rs587783295, rs587784452, rs587783741, rs587783735, rs587783392, rs587783390, rs587783387, rs587783410, rs202058504, rs587783423, rs587783421, rs587783414, rs587784553, rs587784558, rs587784546, rs587784549, rs587784554, rs587784412, rs876661307, rs869025200, rs747831095, rs748529285, rs797045316, rs797045315, rs797045314, rs759632528, rs797045313, rs797045311, rs754282058, rs797045441, rs797045454, rs797045430, rs869312853, rs797046109, rs767399782, rs863225127, rs863225464, rs863225465, rs780270096, rs864321621, rs864321620, rs775277800, rs879253817, rs869312824, rs761447719, rs753406334, rs147622433, rs199422137, rs879255522, rs879255524, rs879255523, rs886037892, rs886037893, rs886037894, rs886037895, rs199422169, rs886041709, rs886041282, rs138228629, rs759188041, rs769688376, rs1057517688, rs1057519087, rs1057518268, rs933106143, rs201362977, rs754909135, rs1057520873, rs1060499758, rs1060499757, rs199422146, rs748016594, rs1085307120, rs763715733, rs1064795945, rs763800571, rs1554728351, rs1553227021, rs555866170, rs1553895368, rs1334947797, rs769818500, rs1321892596, rs1553227645, rs1404276011, rs1553228275, rs1554471681, rs1554496609, rs1555420891, rs1555418825, rs587784548, rs1555723585, rs199736219, rs745997770, rs765275884, rs1553924800, rs1554730137, rs1229568621, rs1482100822, rs979186313, rs758157294, rs1555294652, rs1555299107, rs1553264033, rs1553259539, rs1553254322, rs1553259528, rs981349334, rs1553264036, rs1553253022, rs754267846, rs776034810, rs1342429887, rs752140135, rs1006898944, rs571640983, rs1477524771, rs763909256, rs199910503, rs1553223496, rs759663956, rs1553446603, rs1555139372, rs1555143325, rs1350194762, rs1555141158, rs1553225179, rs769481947, rs769364943, rs748011724, rs1334301723, rs746341112, rs149225624, rs765113367, rs1567024512, rs142865061, rs772050241, rs201721894, rs1557966012, rs1379578836, rs1568334868, rs1185537869, rs1602333390, rs1163303148, rs774338373, rs770540184, rs1571600045, rs1571601267, rs1571602991, rs1588472215, rs1599841026, rs1558328287, rs1571600860, rs1571596976, rs1309880692, rs1435239428, rs1588634016, rs1751797979, rs1810830776, rs1815354949, rs1949984655, rs886039658, rs1943461045, rs777711720, rs2031759596, rs1555710223, rs1221031683, rs774069989, rs2058919680, rs1170413397, rs1213710245, rs1599851667, rs1599760058, rs1971033478, rs746967357

Unknown
Disease term	Disease name	Evidence	References	Source
Dopa-responsive dystonia	Dystonia, Dopa-Responsive, due to Sepiapterin Reductase Deficiency		17159114, 16049044, 25526675, 28189489, 22522443, 16650784, 11443547, 27604308	ClinVar
Ptosis	Blepharoptosis, Ptosis			ClinVar

Associations from Text Mining
Disease Name	Relationship Type	References
Cognition Disorders	Associate	40243727
Developmental Disabilities	Associate	40243727
Dystonia Dopa responsive	Associate	21677200
Dystonia Dopa Responsive due to Sepiapterin Reductase Deficiency	Stimulate	11443547
Dystonia Dopa Responsive due to Sepiapterin Reductase Deficiency	Associate	11443547, 40243727
Heredodegenerative Disorders Nervous System	Associate	24096079
Immunologic Deficiency Syndromes	Associate	11443547
Neuroblastoma	Associate	24096079, 26093909
Parkinson Disease	Associate	16443856, 17270157, 27613114
Parkinsonism Dystonia Infantile	Associate	20337188
Psychomotor Disorders	Associate	40243727
Serotonin Syndrome	Associate	20337188