MOCS1 (molybdenum cofactor synthesis 1)

Gene

• Entrez ID: 4337
• Gene name: Molybdenum cofactor synthesis 1
• Gene symbol: MOCS1
• Synonyms: MIG11, MOCOD, MOCS1A, MOCS1B
• Chromosome: 6
• Chromosome location: 6p21.2
• Summary: Molybdenum cofactor biosynthesis is a conserved pathway leading to the biological activation of molybdenum. The protein encoded by this gene is involved in this pathway. This gene was originally thought to produce a bicistronic mRNA with the potential to

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs104893969	C>T	Pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs104893970	G>A	Pathogenic	Intron variant, coding sequence variant, missense variant, 5 prime UTR variant
rs140243105	C>G,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Missense variant, non coding transcript variant, coding sequence variant
rs141982812	C>T	Pathogenic	Splice donor variant
rs146075796	C>A,T	Pathogenic	Splice donor variant
rs148579886	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, missense variant
rs372246702	C>A,T	Likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs377167949	G>A	Likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs397518418	A>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs397518419	CT>-	Likely-pathogenic	Non coding transcript variant, frameshift variant, 3 prime UTR variant, coding sequence variant
rs752653792	C>T	Likely-pathogenic	Intron variant
rs886042028	GATGGCCTTGTGGATGCCCTC>-	Pathogenic	Inframe deletion, coding sequence variant, non coding transcript variant
rs1562085332	T>A	Likely-pathogenic	Coding sequence variant, stop gained, intron variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT044828	hsa-miR-320a	CLASH	23622248
MIRT1154985	hsa-miR-1226	CLIP-seq
MIRT1154986	hsa-miR-1229	CLIP-seq
MIRT1154987	hsa-miR-1245b-3p	CLIP-seq
MIRT1154988	hsa-miR-1245b-5p	CLIP-seq
MIRT1154989	hsa-miR-1253	CLIP-seq
MIRT1154990	hsa-miR-125a-5p	CLIP-seq
MIRT1154991	hsa-miR-125b	CLIP-seq
MIRT1154992	hsa-miR-1266	CLIP-seq
MIRT1154993	hsa-miR-1295	CLIP-seq
MIRT1154994	hsa-miR-146a	CLIP-seq
MIRT1154995	hsa-miR-146b-5p	CLIP-seq
MIRT1154996	hsa-miR-1470	CLIP-seq
MIRT1154997	hsa-miR-1972	CLIP-seq
MIRT1154998	hsa-miR-2117	CLIP-seq
MIRT1154999	hsa-miR-214	CLIP-seq
MIRT1155000	hsa-miR-22	CLIP-seq
MIRT1155001	hsa-miR-2355-5p	CLIP-seq
MIRT1155002	hsa-miR-3124-3p	CLIP-seq
MIRT1155003	hsa-miR-3126-3p	CLIP-seq
MIRT1155004	hsa-miR-3128	CLIP-seq
MIRT1155005	hsa-miR-3142	CLIP-seq
MIRT1155006	hsa-miR-3180-5p	CLIP-seq
MIRT1155007	hsa-miR-3619-5p	CLIP-seq
MIRT1155008	hsa-miR-4264	CLIP-seq
MIRT1155009	hsa-miR-4267	CLIP-seq
MIRT1155010	hsa-miR-4270	CLIP-seq
MIRT1155011	hsa-miR-4273	CLIP-seq
MIRT1155012	hsa-miR-4303	CLIP-seq
MIRT1155013	hsa-miR-431	CLIP-seq
MIRT1155014	hsa-miR-4319	CLIP-seq
MIRT1155015	hsa-miR-4330	CLIP-seq
MIRT1155016	hsa-miR-4434	CLIP-seq
MIRT1155017	hsa-miR-4441	CLIP-seq
MIRT1155018	hsa-miR-4446-5p	CLIP-seq
MIRT1155019	hsa-miR-4471	CLIP-seq
MIRT1155020	hsa-miR-450b-3p	CLIP-seq
MIRT1155021	hsa-miR-4516	CLIP-seq
MIRT1155022	hsa-miR-4518	CLIP-seq
MIRT1155023	hsa-miR-4530	CLIP-seq
MIRT1155024	hsa-miR-4649-3p	CLIP-seq
MIRT1155025	hsa-miR-4667-3p	CLIP-seq
MIRT1155026	hsa-miR-4677-3p	CLIP-seq
MIRT1155027	hsa-miR-4677-5p	CLIP-seq
MIRT1155028	hsa-miR-4679	CLIP-seq
MIRT1155029	hsa-miR-4690-5p	CLIP-seq
MIRT1155030	hsa-miR-4711-3p	CLIP-seq
MIRT1155031	hsa-miR-4720-5p	CLIP-seq
MIRT1155032	hsa-miR-4722-5p	CLIP-seq
MIRT1155033	hsa-miR-4731-5p	CLIP-seq
MIRT1155034	hsa-miR-4732-3p	CLIP-seq
MIRT1155035	hsa-miR-4733-3p	CLIP-seq
MIRT1155036	hsa-miR-4755-5p	CLIP-seq
MIRT1155037	hsa-miR-4768-3p	CLIP-seq
MIRT1155038	hsa-miR-4778-3p	CLIP-seq
MIRT1155039	hsa-miR-4797-3p	CLIP-seq
MIRT1155040	hsa-miR-4799-3p	CLIP-seq
MIRT1155041	hsa-miR-589	CLIP-seq
MIRT1155042	hsa-miR-615-5p	CLIP-seq
MIRT1155043	hsa-miR-634	CLIP-seq
MIRT1155044	hsa-miR-635	CLIP-seq
MIRT1155045	hsa-miR-642a	CLIP-seq
MIRT1155046	hsa-miR-670	CLIP-seq
MIRT1155047	hsa-miR-761	CLIP-seq
MIRT1155048	hsa-miR-769-3p	CLIP-seq
MIRT1155049	hsa-miR-892a	CLIP-seq
MIRT1155050	hsa-miR-935	CLIP-seq
MIRT1551373	hsa-miR-4417	CLIP-seq
MIRT2044275	hsa-miR-103a	CLIP-seq
MIRT2044276	hsa-miR-107	CLIP-seq
MIRT2044277	hsa-miR-1207-3p	CLIP-seq
MIRT1154990	hsa-miR-125a-5p	CLIP-seq
MIRT1154991	hsa-miR-125b	CLIP-seq
MIRT1154992	hsa-miR-1266	CLIP-seq
MIRT2044278	hsa-miR-15a	CLIP-seq
MIRT2044279	hsa-miR-15b	CLIP-seq
MIRT2044280	hsa-miR-16	CLIP-seq
MIRT2044281	hsa-miR-190	CLIP-seq
MIRT2044282	hsa-miR-190b	CLIP-seq
MIRT2044283	hsa-miR-195	CLIP-seq
MIRT2044284	hsa-miR-198	CLIP-seq
MIRT1154999	hsa-miR-214	CLIP-seq
MIRT2044285	hsa-miR-2861	CLIP-seq
MIRT2044286	hsa-miR-296-5p	CLIP-seq
MIRT2044287	hsa-miR-3130-3p	CLIP-seq
MIRT2044288	hsa-miR-3151	CLIP-seq
MIRT2044289	hsa-miR-3162-3p	CLIP-seq
MIRT2044290	hsa-miR-3202	CLIP-seq
MIRT1155007	hsa-miR-3619-5p	CLIP-seq
MIRT2044291	hsa-miR-3652	CLIP-seq
MIRT2044292	hsa-miR-3690	CLIP-seq
MIRT2044293	hsa-miR-378	CLIP-seq
MIRT2044294	hsa-miR-378b	CLIP-seq
MIRT2044295	hsa-miR-378c	CLIP-seq
MIRT2044296	hsa-miR-378d	CLIP-seq
MIRT2044297	hsa-miR-378e	CLIP-seq
MIRT2044298	hsa-miR-378f	CLIP-seq
MIRT2044299	hsa-miR-378h	CLIP-seq
MIRT2044300	hsa-miR-378i	CLIP-seq
MIRT2044301	hsa-miR-422a	CLIP-seq
MIRT2044302	hsa-miR-424	CLIP-seq
MIRT2044303	hsa-miR-4254	CLIP-seq
MIRT1155009	hsa-miR-4267	CLIP-seq
MIRT2044304	hsa-miR-4291	CLIP-seq
MIRT2044305	hsa-miR-4310	CLIP-seq
MIRT1155014	hsa-miR-4319	CLIP-seq
MIRT1551373	hsa-miR-4417	CLIP-seq
MIRT2044306	hsa-miR-4430	CLIP-seq
MIRT1155018	hsa-miR-4446-5p	CLIP-seq
MIRT2044307	hsa-miR-4512	CLIP-seq
MIRT1155022	hsa-miR-4518	CLIP-seq
MIRT2044308	hsa-miR-4533	CLIP-seq
MIRT2044309	hsa-miR-4640-5p	CLIP-seq
MIRT2044310	hsa-miR-4713-5p	CLIP-seq
MIRT2044311	hsa-miR-4720-3p	CLIP-seq
MIRT2044312	hsa-miR-4726-5p	CLIP-seq
MIRT1155034	hsa-miR-4732-3p	CLIP-seq
MIRT1155036	hsa-miR-4755-5p	CLIP-seq
MIRT2044313	hsa-miR-4783-3p	CLIP-seq
MIRT2044314	hsa-miR-497	CLIP-seq
MIRT2044315	hsa-miR-508-5p	CLIP-seq
MIRT2044316	hsa-miR-604	CLIP-seq
MIRT2044317	hsa-miR-619	CLIP-seq
MIRT2044318	hsa-miR-626	CLIP-seq
MIRT2044319	hsa-miR-647	CLIP-seq
MIRT2044320	hsa-miR-665	CLIP-seq
MIRT1155046	hsa-miR-670	CLIP-seq
MIRT1155047	hsa-miR-761	CLIP-seq
MIRT2044321	hsa-miR-766	CLIP-seq
MIRT2044322	hsa-miR-922	CLIP-seq
MIRT2044316	hsa-miR-604	CLIP-seq
MIRT2044319	hsa-miR-647	CLIP-seq
MIRT2273645	hsa-miR-3159	CLIP-seq
MIRT2273645	hsa-miR-3159	CLIP-seq
MIRT2390997	hsa-miR-661	CLIP-seq
MIRT2454363	hsa-miR-1251	CLIP-seq
MIRT1154992	hsa-miR-1266	CLIP-seq
MIRT2454364	hsa-miR-24	CLIP-seq
MIRT2044287	hsa-miR-3130-3p	CLIP-seq
MIRT1155009	hsa-miR-4267	CLIP-seq
MIRT2454365	hsa-miR-4284	CLIP-seq
MIRT2454366	hsa-miR-4474-3p	CLIP-seq
MIRT1155022	hsa-miR-4518	CLIP-seq
MIRT2454367	hsa-miR-4684-5p	CLIP-seq
MIRT2454368	hsa-miR-4691-3p	CLIP-seq
MIRT2454369	hsa-miR-4715-3p	CLIP-seq
MIRT2454370	hsa-miR-4760-5p	CLIP-seq
MIRT2454371	hsa-miR-4764-5p	CLIP-seq
MIRT2454372	hsa-miR-4768-5p	CLIP-seq
MIRT2454373	hsa-miR-4786-3p	CLIP-seq
MIRT2454374	hsa-miR-577	CLIP-seq
MIRT2044317	hsa-miR-619	CLIP-seq
MIRT2454368	hsa-miR-4691-3p	CLIP-seq
MIRT2454373	hsa-miR-4786-3p	CLIP-seq
MIRT2044275	hsa-miR-103a	CLIP-seq
MIRT2044276	hsa-miR-107	CLIP-seq
MIRT2454363	hsa-miR-1251	CLIP-seq
MIRT2044278	hsa-miR-15a	CLIP-seq
MIRT2044279	hsa-miR-15b	CLIP-seq
MIRT2044280	hsa-miR-16	CLIP-seq
MIRT2044283	hsa-miR-195	CLIP-seq
MIRT2685196	hsa-miR-2113	CLIP-seq
MIRT1154999	hsa-miR-214	CLIP-seq
MIRT2685197	hsa-miR-331-3p	CLIP-seq
MIRT1155007	hsa-miR-3619-5p	CLIP-seq
MIRT2685198	hsa-miR-3926	CLIP-seq
MIRT2044302	hsa-miR-424	CLIP-seq
MIRT2685199	hsa-miR-4282	CLIP-seq
MIRT2044304	hsa-miR-4291	CLIP-seq
MIRT2044305	hsa-miR-4310	CLIP-seq
MIRT2454366	hsa-miR-4474-3p	CLIP-seq
MIRT2685200	hsa-miR-4495	CLIP-seq
MIRT2454367	hsa-miR-4684-5p	CLIP-seq
MIRT2044310	hsa-miR-4713-5p	CLIP-seq
MIRT2685201	hsa-miR-4714-3p	CLIP-seq
MIRT2454369	hsa-miR-4715-3p	CLIP-seq
MIRT2685202	hsa-miR-4735-5p	CLIP-seq
MIRT2454370	hsa-miR-4760-5p	CLIP-seq
MIRT2454372	hsa-miR-4768-5p	CLIP-seq
MIRT2685203	hsa-miR-4775	CLIP-seq
MIRT2685204	hsa-miR-495	CLIP-seq
MIRT2044314	hsa-miR-497	CLIP-seq
MIRT2685205	hsa-miR-548s	CLIP-seq
MIRT2454374	hsa-miR-577	CLIP-seq
MIRT2685206	hsa-miR-590-3p	CLIP-seq
MIRT2685207	hsa-miR-663b	CLIP-seq
MIRT1155047	hsa-miR-761	CLIP-seq
MIRT2044322	hsa-miR-922	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005525	Function	GTP binding	IEA
GO:0005634	Component	Nucleus	NAS	9731530
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	TAS
GO:0006777	Process	Mo-molybdopterin cofactor biosynthetic process	IMP	9731530, 9921896, 16021469
GO:0006777	Process	Mo-molybdopterin cofactor biosynthetic process	TAS	12754701
GO:0019008	Component	Molybdopterin synthase complex	IEA
GO:0032324	Process	Molybdopterin cofactor biosynthetic process	TAS
GO:0046872	Function	Metal ion binding	IEA
GO:0051539	Function	4 iron, 4 sulfur cluster binding	IEA
GO:0061798	Function	GTP 3',8'-cyclase activity	IEA
GO:0061799	Function	Cyclic pyranopterin monophosphate synthase activity	IEA

Other IDs

• MIM: 603707
• HGNC: 7190
• e!Ensembl: ENSG00000124615

Protein

• UniProt ID: Q9NZB8
• Protein name: Molybdenum cofactor biosynthesis protein 1 (Cell migration-inducing gene 11 protein) (Molybdenum cofactor synthesis-step 1 protein A-B) [Includes: GTP 3',8-cyclase (EC 4.1.99.22) (Molybdenum cofactor biosynthesis protein A); Cyclic pyranopterin monophosph
• Protein function: Isoform MOCS1A and isoform MOCS1B probably form a complex that catalyzes the conversion of 5'-GTP to cyclic pyranopterin monophosphate (cPMP). MOCS1A catalyzes the cyclization of GTP to (8S)-3',8-cyclo-7,8-dihydroguanosine 5'-triphosphate and MO
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF13353	Fer4_12	69 → 194		Domain
  PF04055	Radical_SAM	74 → 236	Radical SAM superfamily	Domain
  PF06463	Mob_synth_C	241 → 368	Molybdenum Cofactor Synthesis C	Domain
  PF01967	MoaC	493 → 628	MoaC family	Family

• Sequence:

  MAARPLSRMLRRLLRSSARSCSSGAPVTQPCPGESARAASEEVSRRRQFLREHAAPFSAF
  LTDSFGRQHSYLRISLTEKCNLRCQYCMPEEGVPLTPKANLLTTEEILTLARLFVKEGID
  KIRLTGGEPLIRPDVVDIVAQLQRLEGLRTIGVTTNGINLARLLPQLQKAGLSAINISLD
  TLVPAKFEFIVRRKGFHKVMEGIHKAIELGYNPVKVNCVVMRGLNEDELLDFAALTEGLP
  LDVRFIEYMPFDGNKWNFKKMVSYKEMLDTVRQQWPELEKVPEEESSTAKAFKIPGFQGQ
  ISFITSMSEHFCGTCNRLRITADGNLKVCLFGNSEVSLRDHLRAGASEQELLRIIGAAVG
  RKKRQHAGMFSISQMKNRPMILIELFLMFPNSPPANPSIFSWDPLHVQGLRPRMSFSSQV
  ATLWKGCRVPQTPPLAQQRLGSGSFQRHYTSRADSDANSKCLSPGSWASAAPSGPQLTSE
  QLTHVDSEGRAAMVDVGRKPDTERVAVASAVVLLGPVAFKLVQQNQLKKGDALVVAQLAG
  VQAAKVTSQLIPLCHHVALSHIQVQLELDSTRHAVKIQASCRARGPTGVEMEALTSAAVA
  ALTLYDMCKAVSRDIVLEEIKLISKTGGQRGDFHRA

• Sequence length: 636

Pathways

KEGG:

Folate biosynthesis
Metabolic pathways
Biosynthesis of cofactors

Reactome:

Molybdenum cofactor biosynthesis

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Combined molybdoflavoprotein enzyme deficiency	Combined molybdoflavoprotein enzyme deficiency	rs397518419
Macrocephaly	Macrocephaly	rs786204854, rs764333096, rs1557739557
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
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
Nystagmus	Nystagmus	rs137852207, rs137852208, rs1928435502, rs137852209, rs137852210, rs1929191668, rs137852211, rs137852212, rs2124209414, rs387906720, rs387906721, rs1602791884, rs786205896
Sulfite oxidase deficiency	Sulfite oxidase deficiency, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	rs121908007, rs121908009, rs398122797, rs121908605, rs398122799, rs121908606, rs121908607, rs121908608, rs121908609, rs397518417, rs397518418, rs397518419, rs104893969, rs141982812, rs397518420, rs794729211, rs146075796, rs1554028123, rs1555198521, rs773937413, rs772575104, rs1562085332, rs1565798380, rs747461754, rs776356158, rs1595241291, rs372246702, rs770792767, rs1273139451, rs1767224356, rs2082439915, rs773655286, rs2066910297
Xanthinuria	Xanthinuria	rs119460972, rs142150953, rs886037854, rs750896617, rs886037855, rs751921838, rs376882470, rs760186813, rs1558674294, rs773456900

Unknown
Disease name	Disease term	dbSNP ID	References
Cerebral atrophy	Cerebral atrophy
Deficiency of aldehyde oxidase	Deficiency of aldehyde oxidase
Frontal bossing	Frontal bossing
Hypoplasia of corpus callosum	Hypoplasia of corpus callosum
Molybdenum cofactor deficiency	Molybdenum Cofactor Deficiency, Complementation Group A		9921896, 9731530, 16021469, 12754701
Spastic quadriplegia	Spastic Quadriplegia
Spastic tetraparesis	Spastic tetraparesis	rs35077384