TAT (tyrosine aminotransferase)

Gene

• Entrez ID: 6898
• Gene name: Tyrosine aminotransferase
• Gene symbol: TAT
• Synonyms: -
• Chromosome: 16
• Chromosome location: 16q22.2
• Summary: This nuclear gene encodes a mitochondrial protein tyrosine aminotransferase which is present in the liver and catalyzes the conversion of L-tyrosine into p-hydroxyphenylpyruvate. Mutations in this gene cause tyrosinemia (type II, Richner-Hanhart syndrome)

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs118203914	G>A	Likely-pathogenic, pathogenic	Coding sequence variant, stop gained
rs587776512	T>C	Pathogenic	Intron variant
rs746077579	->G	Likely-pathogenic	Frameshift variant, coding sequence variant
rs748924248	C>T	Likely-pathogenic	Splice donor variant
rs759311161	C>T	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs1426882225	T>C	Likely-pathogenic	Initiator codon variant, missense variant
rs1555538138	A>G	Likely-pathogenic	Splice donor variant
rs1555538156	->A	Likely-pathogenic	Frameshift variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT023561	hsa-miR-1-3p	Microarray	18668037
MIRT1411603	hsa-miR-10a	CLIP-seq
MIRT1411604	hsa-miR-10b	CLIP-seq
MIRT1411605	hsa-miR-1273	CLIP-seq
MIRT1411606	hsa-miR-1304	CLIP-seq
MIRT1411607	hsa-miR-1827	CLIP-seq
MIRT1411608	hsa-miR-2114	CLIP-seq
MIRT1411609	hsa-miR-24	CLIP-seq
MIRT1411610	hsa-miR-31	CLIP-seq
MIRT1411611	hsa-miR-3120-3p	CLIP-seq
MIRT1411612	hsa-miR-3123	CLIP-seq
MIRT1411613	hsa-miR-338-3p	CLIP-seq
MIRT1411614	hsa-miR-339-5p	CLIP-seq
MIRT1411615	hsa-miR-3622b-5p	CLIP-seq
MIRT1411616	hsa-miR-4252	CLIP-seq
MIRT1411617	hsa-miR-4253	CLIP-seq
MIRT1411618	hsa-miR-4284	CLIP-seq
MIRT1411619	hsa-miR-4421	CLIP-seq
MIRT1411620	hsa-miR-4530	CLIP-seq
MIRT1411621	hsa-miR-4649-5p	CLIP-seq
MIRT1411622	hsa-miR-4684-5p	CLIP-seq
MIRT1411623	hsa-miR-4793-3p	CLIP-seq
MIRT1411624	hsa-miR-4794	CLIP-seq
MIRT1411625	hsa-miR-508-5p	CLIP-seq
MIRT1411626	hsa-miR-545	CLIP-seq
MIRT1411627	hsa-miR-548a-5p	CLIP-seq
MIRT1411628	hsa-miR-548ab	CLIP-seq
MIRT1411629	hsa-miR-548ak	CLIP-seq
MIRT1411630	hsa-miR-548b-5p	CLIP-seq
MIRT1411631	hsa-miR-548c-3p	CLIP-seq
MIRT1411632	hsa-miR-548c-5p	CLIP-seq
MIRT1411633	hsa-miR-548d-5p	CLIP-seq
MIRT1411634	hsa-miR-548h	CLIP-seq
MIRT1411635	hsa-miR-548i	CLIP-seq
MIRT1411636	hsa-miR-548j	CLIP-seq
MIRT1411637	hsa-miR-548n	CLIP-seq
MIRT1411638	hsa-miR-548p	CLIP-seq
MIRT1411639	hsa-miR-548w	CLIP-seq
MIRT1411640	hsa-miR-548y	CLIP-seq
MIRT1411641	hsa-miR-559	CLIP-seq
MIRT1411642	hsa-miR-593	CLIP-seq
MIRT1411643	hsa-miR-766	CLIP-seq
MIRT1411605	hsa-miR-1273	CLIP-seq
MIRT1411606	hsa-miR-1304	CLIP-seq
MIRT1411607	hsa-miR-1827	CLIP-seq
MIRT1411610	hsa-miR-31	CLIP-seq
MIRT1411612	hsa-miR-3123	CLIP-seq
MIRT1411613	hsa-miR-338-3p	CLIP-seq
MIRT2123594	hsa-miR-3672	CLIP-seq
MIRT1411616	hsa-miR-4252	CLIP-seq
MIRT2123595	hsa-miR-4266	CLIP-seq
MIRT2123596	hsa-miR-4433	CLIP-seq
MIRT1411620	hsa-miR-4530	CLIP-seq
MIRT1411621	hsa-miR-4649-5p	CLIP-seq
MIRT2123597	hsa-miR-4712-5p	CLIP-seq
MIRT2123598	hsa-miR-4768-3p	CLIP-seq
MIRT2123599	hsa-miR-4786-5p	CLIP-seq
MIRT1411623	hsa-miR-4793-3p	CLIP-seq
MIRT1411624	hsa-miR-4794	CLIP-seq
MIRT1411625	hsa-miR-508-5p	CLIP-seq
MIRT2123600	hsa-miR-544b	CLIP-seq
MIRT2123601	hsa-miR-651	CLIP-seq
MIRT1411643	hsa-miR-766	CLIP-seq
MIRT2123602	hsa-miR-769-5p	CLIP-seq
MIRT2123603	hsa-miR-770-5p	CLIP-seq
MIRT1411603	hsa-miR-10a	CLIP-seq
MIRT1411604	hsa-miR-10b	CLIP-seq
MIRT1411605	hsa-miR-1273	CLIP-seq
MIRT1411606	hsa-miR-1304	CLIP-seq
MIRT1411607	hsa-miR-1827	CLIP-seq
MIRT1411610	hsa-miR-31	CLIP-seq
MIRT1411612	hsa-miR-3123	CLIP-seq
MIRT1411613	hsa-miR-338-3p	CLIP-seq
MIRT1411615	hsa-miR-3622b-5p	CLIP-seq
MIRT2123594	hsa-miR-3672	CLIP-seq
MIRT1411616	hsa-miR-4252	CLIP-seq
MIRT1411617	hsa-miR-4253	CLIP-seq
MIRT2123595	hsa-miR-4266	CLIP-seq
MIRT1411618	hsa-miR-4284	CLIP-seq
MIRT2123596	hsa-miR-4433	CLIP-seq
MIRT1411620	hsa-miR-4530	CLIP-seq
MIRT1411621	hsa-miR-4649-5p	CLIP-seq
MIRT2123597	hsa-miR-4712-5p	CLIP-seq
MIRT2123598	hsa-miR-4768-3p	CLIP-seq
MIRT2123599	hsa-miR-4786-5p	CLIP-seq
MIRT1411623	hsa-miR-4793-3p	CLIP-seq
MIRT1411624	hsa-miR-4794	CLIP-seq
MIRT1411625	hsa-miR-508-5p	CLIP-seq
MIRT2123600	hsa-miR-544b	CLIP-seq
MIRT2123601	hsa-miR-651	CLIP-seq
MIRT1411643	hsa-miR-766	CLIP-seq
MIRT2123602	hsa-miR-769-5p	CLIP-seq
MIRT2123603	hsa-miR-770-5p	CLIP-seq
MIRT1411608	hsa-miR-2114	CLIP-seq
MIRT1411615	hsa-miR-3622b-5p	CLIP-seq
MIRT2123594	hsa-miR-3672	CLIP-seq
MIRT1411617	hsa-miR-4253	CLIP-seq
MIRT2123595	hsa-miR-4266	CLIP-seq
MIRT1411618	hsa-miR-4284	CLIP-seq
MIRT2123597	hsa-miR-4712-5p	CLIP-seq
MIRT2123599	hsa-miR-4786-5p	CLIP-seq
MIRT1411624	hsa-miR-4794	CLIP-seq
MIRT2123601	hsa-miR-651	CLIP-seq
MIRT2123602	hsa-miR-769-5p	CLIP-seq
MIRT2123603	hsa-miR-770-5p	CLIP-seq
MIRT1411603	hsa-miR-10a	CLIP-seq
MIRT1411604	hsa-miR-10b	CLIP-seq
MIRT2461154	hsa-miR-186	CLIP-seq
MIRT1411609	hsa-miR-24	CLIP-seq
MIRT2461155	hsa-miR-3133	CLIP-seq
MIRT1411614	hsa-miR-339-5p	CLIP-seq
MIRT1411615	hsa-miR-3622b-5p	CLIP-seq
MIRT2461156	hsa-miR-371-5p	CLIP-seq
MIRT2461157	hsa-miR-371b-5p	CLIP-seq
MIRT1411617	hsa-miR-4253	CLIP-seq
MIRT2123595	hsa-miR-4266	CLIP-seq
MIRT1411618	hsa-miR-4284	CLIP-seq
MIRT1411619	hsa-miR-4421	CLIP-seq
MIRT2461158	hsa-miR-4432	CLIP-seq
MIRT1411622	hsa-miR-4684-5p	CLIP-seq
MIRT2461159	hsa-miR-4698	CLIP-seq
MIRT2123597	hsa-miR-4712-5p	CLIP-seq
MIRT1411631	hsa-miR-548c-3p	CLIP-seq
MIRT1411642	hsa-miR-593	CLIP-seq
MIRT2123601	hsa-miR-651	CLIP-seq
MIRT2123603	hsa-miR-770-5p	CLIP-seq
MIRT1411603	hsa-miR-10a	CLIP-seq
MIRT1411604	hsa-miR-10b	CLIP-seq
MIRT1411605	hsa-miR-1273	CLIP-seq
MIRT1411607	hsa-miR-1827	CLIP-seq
MIRT2461154	hsa-miR-186	CLIP-seq
MIRT1411609	hsa-miR-24	CLIP-seq
MIRT1411610	hsa-miR-31	CLIP-seq
MIRT1411612	hsa-miR-3123	CLIP-seq
MIRT2461155	hsa-miR-3133	CLIP-seq
MIRT2638615	hsa-miR-3145-3p	CLIP-seq
MIRT1411613	hsa-miR-338-3p	CLIP-seq
MIRT1411614	hsa-miR-339-5p	CLIP-seq
MIRT1411615	hsa-miR-3622b-5p	CLIP-seq
MIRT2461156	hsa-miR-371-5p	CLIP-seq
MIRT2461157	hsa-miR-371b-5p	CLIP-seq
MIRT1411616	hsa-miR-4252	CLIP-seq
MIRT1411617	hsa-miR-4253	CLIP-seq
MIRT2123595	hsa-miR-4266	CLIP-seq
MIRT2638616	hsa-miR-4275	CLIP-seq
MIRT1411618	hsa-miR-4284	CLIP-seq
MIRT1411619	hsa-miR-4421	CLIP-seq
MIRT2461158	hsa-miR-4432	CLIP-seq
MIRT2638617	hsa-miR-451b	CLIP-seq
MIRT1411620	hsa-miR-4530	CLIP-seq
MIRT1411621	hsa-miR-4649-5p	CLIP-seq
MIRT1411622	hsa-miR-4684-5p	CLIP-seq
MIRT2638618	hsa-miR-4696	CLIP-seq
MIRT2461159	hsa-miR-4698	CLIP-seq
MIRT2638619	hsa-miR-4711-5p	CLIP-seq
MIRT2123597	hsa-miR-4712-5p	CLIP-seq
MIRT1411623	hsa-miR-4793-3p	CLIP-seq
MIRT1411625	hsa-miR-508-5p	CLIP-seq
MIRT1411631	hsa-miR-548c-3p	CLIP-seq
MIRT1411642	hsa-miR-593	CLIP-seq
MIRT2123601	hsa-miR-651	CLIP-seq
MIRT1411643	hsa-miR-766	CLIP-seq
MIRT2123603	hsa-miR-770-5p	CLIP-seq
MIRT1411603	hsa-miR-10a	CLIP-seq
MIRT1411604	hsa-miR-10b	CLIP-seq
MIRT1411607	hsa-miR-1827	CLIP-seq
MIRT2461154	hsa-miR-186	CLIP-seq
MIRT1411609	hsa-miR-24	CLIP-seq
MIRT1411610	hsa-miR-31	CLIP-seq
MIRT1411612	hsa-miR-3123	CLIP-seq
MIRT2461155	hsa-miR-3133	CLIP-seq
MIRT1411614	hsa-miR-339-5p	CLIP-seq
MIRT1411615	hsa-miR-3622b-5p	CLIP-seq
MIRT2461156	hsa-miR-371-5p	CLIP-seq
MIRT2461157	hsa-miR-371b-5p	CLIP-seq
MIRT1411617	hsa-miR-4253	CLIP-seq
MIRT1411618	hsa-miR-4284	CLIP-seq
MIRT1411619	hsa-miR-4421	CLIP-seq
MIRT2461158	hsa-miR-4432	CLIP-seq
MIRT1411622	hsa-miR-4684-5p	CLIP-seq
MIRT2461159	hsa-miR-4698	CLIP-seq
MIRT1411631	hsa-miR-548c-3p	CLIP-seq
MIRT1411642	hsa-miR-593	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
NR3C1	Unknown	12815172

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004838	Function	L-tyrosine:2-oxoglutarate aminotransferase activity	IDA	7999802
GO:0004838	Function	L-tyrosine:2-oxoglutarate aminotransferase activity	NAS	1973834
GO:0005515	Function	Protein binding	IPI	24722188, 25910212, 31515488, 32296183, 32814053
GO:0005575	Component	Cellular_component	ND
GO:0005739	Component	Mitochondrion	IEA
GO:0005829	Component	Cytosol	TAS
GO:0006103	Process	2-oxoglutarate metabolic process	IDA	7999802
GO:0006536	Process	Glutamate metabolic process	IDA	7999802
GO:0006559	Process	L-phenylalanine catabolic process	IEA
GO:0006559	Process	L-phenylalanine catabolic process	TAS
GO:0006572	Process	Tyrosine catabolic process	IDA	7999802
GO:0006979	Process	Response to oxidative stress	IEA
GO:0009058	Process	Biosynthetic process	IEA
GO:0016597	Function	Amino acid binding	IEA
GO:0030170	Function	Pyridoxal phosphate binding	IEA
GO:0042802	Function	Identical protein binding	IPI	25502805, 31515488, 32296183
GO:0046689	Process	Response to mercury ion	IEA
GO:0051384	Process	Response to glucocorticoid	IEA

Other IDs

• MIM: 613018
• HGNC: 11573
• e!Ensembl: ENSG00000198650

Protein

• UniProt ID: P17735
• Protein name: Tyrosine aminotransferase (TAT) (EC 2.6.1.5) (L-tyrosine:2-oxoglutarate aminotransferase)
• Protein function: Transaminase involved in tyrosine breakdown. Converts tyrosine to p-hydroxyphenylpyruvate. Can catalyze the reverse reaction, using glutamic acid, with 2-oxoglutarate as cosubstrate (in vitro). Has much lower affinity and transaminase activity t
• PDB: 3DYD
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF07706	TAT_ubiq	1 → 40	Aminotransferase ubiquitination site	Motif
  PF00155	Aminotran_1_2	71 → 434	Aminotransferase class I and II	Domain

• Sequence:

  MDPYMIQMSSKGNLPSILDVHVNVGGRSSVPGKMKGRKARWSVRPSDMAKKTFNPIRAIV
  DNMKVKPNPNKTMISLSIGDPTVFGNLPTDPEVTQAMKDALDSGKYNGYAPSIGFLSSRE
  EIASYYHCPEAPLEAKDVILTSGCSQAIDLCLAVLANPGQNILVPRPGFSLYKTLAESMG
  IEVKLYNLLPEKSWEIDLKQLEYLIDEKTACLIVNNPSNPCGSVFSKRHLQKILAVAARQ
  CVPILADEIYGDMVFSDCKYEPLATLSTDVPILSCGGLAKRWLVPGWRLGWILIHDRRDI
  FGNEIRDGLVKLSQRILGPCTIVQGALKSILCRTPGEFYHNTLSFLKSNADLCYGALAAI
  PGLRPVRPSGAMYLMVGIEMEHFPEFENDVEFTERLVAEQSVHCLPATCFEYPNFIRVVI
  TVPEVMMLEACSRIQEFCEQHYHCAEGSQEECDK

• Sequence length: 454

Pathways

KEGG:

Ubiquinone and other terpenoid-quinone biosynthesis
Cysteine and methionine metabolism
Tyrosine metabolism
Phenylalanine metabolism
Phenylalanine, tyrosine and tryptophan biosynthesis
Metabolic pathways

Reactome:

Tyrosine catabolism

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
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	28255985
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
Palmoplantar keratoderma	Keratoderma, Palmoplantar	rs59616921, rs1568039793, rs746488412, rs200564757, rs1567027297, rs781596375, rs1567027610, rs398123054, rs398123055, rs398123056, rs398123057, rs398122949, rs398122950, rs397515639, rs398122951, rs397515640, rs397515641, rs142859678, rs797044479, rs577442939, rs672601344, rs568609861, rs1057518846, rs1182196436, rs1567037561
Tyrosinemia	Tyrosine Transaminase Deficiency Disease, Tyrosinemias, Tyrosinemia, Type I, Tyrosinemia, Type III, Tyrosinemia type 2	rs118203914, rs118203915, rs118203916, rs587776512, rs137852866, rs137852867, rs121965073, rs121965074, rs121965076, rs80338900, rs80338901, rs121965075, rs121965077, rs80338899, rs80338895, rs121965078, rs80338894, rs80338897, rs80338898, rs370686447, rs786204683, rs781496816, rs771712041, rs786204551, rs886044640, rs1057516934, rs1057517341, rs772895065, rs1057516408, rs779642226, rs1057516679, rs1057516684, rs1057517113, rs1057517084, rs750741137, rs1057517436, rs1057517201, rs1057516333, rs1057516631, rs1057517972, rs1357257156, rs759311161, rs769550316, rs1297118863, rs367674632, rs1176799813, rs1555440522, rs1555440603, rs778387055, rs1555441703, rs1555441852, rs770713168, rs970505762, rs779040832, rs1555442385, rs746077579, rs761817519, rs1555537673, rs1555538156, rs1426882225, rs1247460110, rs1555441272, rs533540262, rs1555441597, rs1555441861, rs113758103, rs1555537741, rs1555537814, rs1555441251, rs149052294, rs1555442289, rs1555537662, rs1555537871, rs1555538138, rs748924248, rs758491525, rs1595889891, rs1595897321, rs1595890740, rs768180953, rs1595894742, rs1595897345, rs1567118987, rs765134063, rs980415517, rs2041131954, rs2044197900, rs773450608, rs2041326700	4389443, 1357662, 18577048, 16917729, 18945316, 27832414, 28255985, 9544843, 16318910

Unknown
Disease name	Disease term	dbSNP ID	References
Palmoplantar keratosis	Palmoplantar Keratosis
Speech disorders	Speech Disorders