SLC25A13 (solute carrier family 25 member 13)

Gene

• Entrez ID: 10165
• Gene name: Solute carrier family 25 member 13
• Gene symbol: SLC25A13
• Synonyms: ARALAR2, CITRIN, CTLN2, NICCD
• Chromosome: 7
• Chromosome location: 7q21.3
• Summary: This gene is a member of the mitochondrial carrier family. The encoded protein contains four EF-hand Ca(2+) binding motifs in the N-terminal domain, and localizes to mitochondria. The protein catalyzes the exchange of aspartate for glutamate and a proton

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs80338715	C>T	Pathogenic	Synonymous variant, non coding transcript variant, genic upstream transcript variant, coding sequence variant, 5 prime UTR variant
rs80338716	G>A	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant, 5 prime UTR variant
rs80338717	C>T	Pathogenic, likely-pathogenic	Intron variant
rs80338718	C>G	Pathogenic	Splice donor variant
rs80338719	G>A,T	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant, 5 prime UTR variant, stop gained
rs80338720	ATAC>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant, 5 prime UTR variant, initiator codon variant
rs80338721	G>A	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs80338722	C>T	Pathogenic	Splice donor variant
rs80338723	C>A,G,T	Pathogenic	Splice donor variant
rs80338724	C>T	Pathogenic	Non coding transcript variant, genic downstream transcript variant, missense variant, coding sequence variant
rs80338725	->CCCGGGCAGCCACCTGTAATCTC	Pathogenic	Non coding transcript variant, genic downstream transcript variant, coding sequence variant, frameshift variant
rs80338726	->T,TTT	Pathogenic	Non coding transcript variant, genic downstream transcript variant, coding sequence variant, stop gained
rs80338727	C>A,T	Pathogenic	Missense variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant, stop gained
rs80338729	G>A	Pathogenic	Non coding transcript variant, genic downstream transcript variant, coding sequence variant, stop gained
rs121908532	C>T	Uncertain-significance, pathogenic	Non coding transcript variant, genic downstream transcript variant, missense variant, coding sequence variant
rs138094550	A>G	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, synonymous variant, coding sequence variant
rs139149160	G>A	Uncertain-significance, likely-pathogenic	Non coding transcript variant, genic downstream transcript variant, missense variant, coding sequence variant
rs141152495	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, non coding transcript variant, intron variant, coding sequence variant
rs143877538	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	3 prime UTR variant, non coding transcript variant, coding sequence variant, missense variant
rs144494809	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant
rs148962110	A>C,G	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, coding sequence variant, missense variant, genic downstream transcript variant
rs150021522	T>G	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, coding sequence variant, synonymous variant
rs180844972	T>C	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Intron variant
rs199735534	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, non coding transcript variant, genic downstream transcript variant
rs200237622	T>G	Likely-pathogenic	3 prime UTR variant, coding sequence variant, non coding transcript variant, missense variant
rs201395793	C>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Intron variant
rs376416252	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Synonymous variant, non coding transcript variant, coding sequence variant
rs746155190	G>A,C	Pathogenic	Coding sequence variant, intron variant, non coding transcript variant, stop gained, missense variant
rs747257110	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, non coding transcript variant, synonymous variant
rs758827458	G>A,C	Uncertain-significance, pathogenic	Non coding transcript variant, coding sequence variant, missense variant, stop gained
rs761370420	C>A	Pathogenic	Splice donor variant, intron variant
rs763191789	G>A,C	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant, stop gained
rs764401478	CT>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs765358773	T>C	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, coding sequence variant, synonymous variant
rs768922690	C>A,T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs879255504	T>-	Pathogenic	Coding sequence variant, non coding transcript variant, 5 prime UTR variant, frameshift variant
rs962082210	C>T	Pathogenic	Splice acceptor variant
rs1060499612	C>G	Likely-pathogenic	Splice donor variant
rs1178306013	C>-	Pathogenic	Non coding transcript variant, coding sequence variant, 3 prime UTR variant, frameshift variant
rs1261058897	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained, genic downstream transcript variant
rs1554335461	C>-	Pathogenic	Genic downstream transcript variant, coding sequence variant, non coding transcript variant, frameshift variant
rs1554353948	C>T	Likely-pathogenic	Intron variant
rs1562774655	->CCGGGCAGCCACCTGTAATCTCC	Pathogenic	Genic downstream transcript variant, coding sequence variant, non coding transcript variant, frameshift variant
rs1562774778	A>-	Pathogenic	Genic downstream transcript variant, coding sequence variant, non coding transcript variant, frameshift variant
rs1562831765	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, 5 prime UTR variant, stop gained
rs1584422832	C>-	Likely-pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1584433525	A>-	Likely-pathogenic	5 prime UTR variant, frameshift variant, coding sequence variant, non coding transcript variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT001594	hsa-let-7b-5p	pSILAC	18668040
MIRT027664	hsa-miR-98-5p	Microarray	19088304
MIRT001594	hsa-let-7b-5p	Proteomics;Other	18668040
MIRT001594	hsa-let-7b-5p	CLASH	23622248
MIRT047732	hsa-miR-10a-5p	CLASH	23622248
MIRT045193	hsa-miR-186-5p	CLASH	23622248
MIRT442464	hsa-miR-605-5p	PAR-CLIP	22100165
MIRT442463	hsa-miR-4255	PAR-CLIP	22100165
MIRT442462	hsa-miR-96-3p	PAR-CLIP	22100165
MIRT442461	hsa-miR-142-3p	PAR-CLIP	22100165
MIRT442460	hsa-miR-3591-5p	PAR-CLIP	22100165
MIRT442464	hsa-miR-605-5p	PAR-CLIP	22100165
MIRT442463	hsa-miR-4255	PAR-CLIP	22100165
MIRT442462	hsa-miR-96-3p	PAR-CLIP	22100165
MIRT442461	hsa-miR-142-3p	PAR-CLIP	22100165
MIRT442460	hsa-miR-3591-5p	PAR-CLIP	22100165
MIRT1355282	hsa-miR-1254	CLIP-seq
MIRT1355283	hsa-miR-1305	CLIP-seq
MIRT1355284	hsa-miR-1912	CLIP-seq
MIRT1355285	hsa-miR-2113	CLIP-seq
MIRT1355286	hsa-miR-221	CLIP-seq
MIRT1355287	hsa-miR-222	CLIP-seq
MIRT1355288	hsa-miR-23a	CLIP-seq
MIRT1355289	hsa-miR-23b	CLIP-seq
MIRT1355290	hsa-miR-23c	CLIP-seq
MIRT1355291	hsa-miR-3116	CLIP-seq
MIRT1355292	hsa-miR-3173-3p	CLIP-seq
MIRT1355293	hsa-miR-3184	CLIP-seq
MIRT1355294	hsa-miR-335	CLIP-seq
MIRT1355295	hsa-miR-3646	CLIP-seq
MIRT1355296	hsa-miR-3653	CLIP-seq
MIRT1355297	hsa-miR-3658	CLIP-seq
MIRT1355298	hsa-miR-3659	CLIP-seq
MIRT1355299	hsa-miR-3662	CLIP-seq
MIRT1355300	hsa-miR-3690	CLIP-seq
MIRT1355301	hsa-miR-378	CLIP-seq
MIRT1355302	hsa-miR-378b	CLIP-seq
MIRT1355303	hsa-miR-378c	CLIP-seq
MIRT1355304	hsa-miR-378d	CLIP-seq
MIRT1355305	hsa-miR-378e	CLIP-seq
MIRT1355306	hsa-miR-378f	CLIP-seq
MIRT1355307	hsa-miR-378h	CLIP-seq
MIRT1355308	hsa-miR-378i	CLIP-seq
MIRT1355309	hsa-miR-422a	CLIP-seq
MIRT1355310	hsa-miR-423-5p	CLIP-seq
MIRT1355311	hsa-miR-4452	CLIP-seq
MIRT1355312	hsa-miR-4477a	CLIP-seq
MIRT1355313	hsa-miR-4489	CLIP-seq
MIRT1355314	hsa-miR-4717-3p	CLIP-seq
MIRT1355315	hsa-miR-4735-5p	CLIP-seq
MIRT1355316	hsa-miR-4768-3p	CLIP-seq
MIRT1355317	hsa-miR-4779	CLIP-seq
MIRT1355318	hsa-miR-498	CLIP-seq
MIRT1355319	hsa-miR-570	CLIP-seq
MIRT1355320	hsa-miR-665	CLIP-seq
MIRT1355321	hsa-miR-1298	CLIP-seq
MIRT1355322	hsa-miR-1915	CLIP-seq
MIRT1355323	hsa-miR-2116	CLIP-seq
MIRT1355324	hsa-miR-217	CLIP-seq
MIRT1355325	hsa-miR-4418	CLIP-seq
MIRT1355326	hsa-miR-4459	CLIP-seq
MIRT1355327	hsa-miR-4677-5p	CLIP-seq
MIRT1355328	hsa-miR-4726-3p	CLIP-seq
MIRT1355329	hsa-miR-4733-5p	CLIP-seq
MIRT1355317	hsa-miR-4779	CLIP-seq
MIRT1355330	hsa-miR-509-3-5p	CLIP-seq
MIRT1355331	hsa-miR-509-5p	CLIP-seq
MIRT1355320	hsa-miR-665	CLIP-seq
MIRT2329799	hsa-miR-101	CLIP-seq
MIRT2329800	hsa-miR-1244	CLIP-seq
MIRT2329801	hsa-miR-1263	CLIP-seq
MIRT2329802	hsa-miR-127-5p	CLIP-seq
MIRT2329803	hsa-miR-141	CLIP-seq
MIRT2329804	hsa-miR-144	CLIP-seq
MIRT2329805	hsa-miR-200a	CLIP-seq
MIRT1355286	hsa-miR-221	CLIP-seq
MIRT1355287	hsa-miR-222	CLIP-seq
MIRT2329806	hsa-miR-29a	CLIP-seq
MIRT2329807	hsa-miR-29b	CLIP-seq
MIRT2329808	hsa-miR-29c	CLIP-seq
MIRT1355293	hsa-miR-3184	CLIP-seq
MIRT2329809	hsa-miR-3194-3p	CLIP-seq
MIRT2329810	hsa-miR-325	CLIP-seq
MIRT2329811	hsa-miR-338-5p	CLIP-seq
MIRT2329812	hsa-miR-3663-3p	CLIP-seq
MIRT2329813	hsa-miR-3692	CLIP-seq
MIRT2329814	hsa-miR-3921	CLIP-seq
MIRT2329815	hsa-miR-3929	CLIP-seq
MIRT1355310	hsa-miR-423-5p	CLIP-seq
MIRT2329816	hsa-miR-4303	CLIP-seq
MIRT2329817	hsa-miR-4419b	CLIP-seq
MIRT2329818	hsa-miR-4427	CLIP-seq
MIRT2329819	hsa-miR-4478	CLIP-seq
MIRT1355313	hsa-miR-4489	CLIP-seq
MIRT2329820	hsa-miR-4517	CLIP-seq
MIRT2329821	hsa-miR-4653-5p	CLIP-seq
MIRT2329822	hsa-miR-4719	CLIP-seq
MIRT2329823	hsa-miR-4755-3p	CLIP-seq
MIRT1355316	hsa-miR-4768-3p	CLIP-seq
MIRT2329824	hsa-miR-4786-3p	CLIP-seq
MIRT2329825	hsa-miR-513b	CLIP-seq
MIRT2329826	hsa-miR-520d-5p	CLIP-seq
MIRT2329827	hsa-miR-524-5p	CLIP-seq
MIRT2329828	hsa-miR-582-5p	CLIP-seq
MIRT2329829	hsa-miR-600	CLIP-seq
MIRT1355320	hsa-miR-665	CLIP-seq
MIRT2329830	hsa-miR-767-5p	CLIP-seq
MIRT2329831	hsa-miR-802	CLIP-seq
MIRT1355329	hsa-miR-4733-5p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005313	Function	L-glutamate transmembrane transporter activity	IBA	21873635
GO:0005313	Function	L-glutamate transmembrane transporter activity	IDA	11566871
GO:0005509	Function	Calcium ion binding	IDA	10642534, 25410934
GO:0005739	Component	Mitochondrion	IDA	10642534, 11566871
GO:0005743	Component	Mitochondrial inner membrane	ISS
GO:0005743	Component	Mitochondrial inner membrane	TAS
GO:0005887	Component	Integral component of plasma membrane	NAS	10642534
GO:0006094	Process	Gluconeogenesis	TAS
GO:0006754	Process	ATP biosynthetic process	IDA	12851387
GO:0006810	Process	Transport	IBA	21873635
GO:0006839	Process	Mitochondrial transport	NAS	10642534
GO:0015183	Function	L-aspartate transmembrane transporter activity	IBA	21873635
GO:0015183	Function	L-aspartate transmembrane transporter activity	IDA	11566871
GO:0015810	Process	Aspartate transmembrane transport	IBA	21873635
GO:0015810	Process	Aspartate transmembrane transport	IDA	11566871
GO:0015813	Process	L-glutamate transmembrane transport	IBA	21873635
GO:0015813	Process	L-glutamate transmembrane transport	IDA	11566871
GO:0022857	Function	Transmembrane transporter activity	IBA	21873635
GO:0042802	Function	Identical protein binding	IDA	25410934
GO:0043490	Process	Malate-aspartate shuttle	IBA	21873635
GO:0043490	Process	Malate-aspartate shuttle	IDA	11566871
GO:0045333	Process	Cellular respiration	IDA	12851387
GO:0051592	Process	Response to calcium ion	IDA	11566871
GO:0070778	Process	L-aspartate transmembrane transport	IEA

Other IDs

• MIM: 603859
• HGNC: 10983
• e!Ensembl: ENSG00000004864

Protein

• UniProt ID: Q9UJS0
• Protein name: Electrogenic aspartate/glutamate antiporter SLC25A13, mitochondrial (Calcium-binding mitochondrial carrier protein Aralar2) (ARALAR-related gene 2) (ARALAR2) (Citrin) (Mitochondrial aspartate glutamate carrier 2) (Solute carrier family 25 member 13)
• Protein function: Mitochondrial electrogenic aspartate/glutamate antiporter that favors efflux of aspartate and entry of glutamate and proton within the mitochondria as part of the malate-aspartate shuttle (PubMed:11566871, PubMed:38945283). Also mediates the upt
• PDB: 4P5W
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00153	Mito_carr	325 → 423	Mitochondrial carrier protein	Family
  PF00153	Mito_carr	424 → 515	Mitochondrial carrier protein	Family
  PF00153	Mito_carr	516 → 611	Mitochondrial carrier protein	Family

• Sequence:

  MAAAKVALTKRADPAELRTIFLKYASIEKNGEFFMSPNDFVTRYLNIFGESQPNPKTVEL
  LSGVVDQTKDGLISFQEFVAFESVLCAPDALFMVAFQLFDKAGKGEVTFEDVKQVFGQTT
  IHQHIPFNWDSEFVQLHFGKERKRHLTYAEFTQFLLEIQLEHAKQAFVQRDNARTGRVTA
  IDFRDIMVTIRPHVLTPFVEECLVAAAGGTTSHQVSFSYFNGFNSLLNNMELIRKIYSTL
  AGTRKDVEVTKEEFVLAAQKFGQVTPMEVDILFQLADLYEPRGRMTLADIERIAPLEEGT
  LPFNLAEAQRQKASGDSARPVLLQVAESAYRFGLGSVAGAVGATAVYPIDLVKTRMQNQR
  STGSFVGELMYKNSFDCFKKVLRYEGFFGLYRGLLPQLLGVAPEKAIKLTVNDFVRDKFM
  HKDGSVPLAAEILAGGCAGGSQVIFTNPLEIVKIRLQVAGEITTGPRVSALSVVRDLGFF
  GIYKGAKACFLRDIPFSAIYFPCYAHVKASFANEDGQVSPGSLLLAGAIAGMPAASLVTP
  ADVIKTRLQVAARAGQTTYSGVIDCFRKILREEGPKALWKGAGARVFRSSPQFGVTLLTY
  ELLQRWFYIDFGGVKPMGSEPVPKSRINLPAPNPDHVGGYKLAVATFAGIENKFGLYLPL
  FKPSVSTSKAIGGGP

• Sequence length: 675

Pathways

Reactome:

Gluconeogenesis
Aspartate and asparagine metabolism

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Anemia	Anemia	rs118204044, rs118204045, rs118204046, rs121918330, rs869320719, rs869312029, rs121918332, rs869320724, rs767094129, rs786205058, rs786205059, rs137853119, rs137853120, rs137853121, rs1384933966, rs137853122, rs137853123, rs786205060, rs267607121, rs121908584, rs80338697, rs80338699, rs120074166, rs120074167, rs1050828, rs74575103, rs137852314, rs5030868, rs137852316, rs137852317, rs137852318, rs137852319, rs137852320, rs137852321, rs137852322, rs137852323, rs137852324, rs72554665, rs387906468, rs5030872, rs137852326, rs137852333, rs137852327, rs137852328, rs137852329, rs137852330, rs137852331, rs137852332, rs137852334, rs137852335, rs137852336, rs137852339, rs76645461, rs137852340, rs137852341, rs78478128, rs137852343, rs137852344, rs137852345, rs587776730, rs137852346, rs137852347, rs137852349, rs2070404412, rs2070350038, rs2070350009, rs137852303, rs137852304, rs33946267, rs34378160, rs33933298, rs11549407, rs35724775, rs34598529, rs41469945, rs267607201, rs80338694, rs80338696, rs387907018, rs398123546, rs78365220, rs587777100, rs587777101, rs483352840, rs869312752, rs765487627, rs1557229599, rs1557230040, rs1555524842, rs782090947, rs1358275550, rs1557229736, rs1557230573, rs1556323334, rs1233124208, rs1293528130, rs146864395, rs1595503440, rs1603411214, rs137852325, rs1575247302, rs1603411177, rs1336651679, rs782322505
Cataract	Cataract	rs118203965, rs118203966, rs104893685, rs121908938, rs104894175, rs121909048, rs28937573, rs121909049, rs121909050, rs74315488, rs80358200, rs80358203, rs121434643, rs56141211, rs132630322, rs121917775, rs121917735, rs121917736, rs137853199, rs137853200, rs121917867, rs121917869, rs121913555, rs104893736, rs121909595, rs121909596, rs121909597, rs28931605, rs121909598, rs104893618, rs1695062782, rs74315486, rs74315487, rs74315490, rs74315489, rs745938679, rs1566402656, rs74315439, rs74315441, rs121912973, rs121917823, rs1593332981, rs121917825, rs121917827, rs113994108, rs387906963, rs387906964, rs1240503246, rs387906965, rs387906966, rs750207077, rs387907336, rs387907337, rs387907342, rs140332366, rs397514703, rs398122937, rs398122378, rs398122392, rs398122944, rs137853924, rs398122947, rs397515623, rs397515624, rs397515625, rs397515626, rs398122948, rs587778872, rs398123066, rs587777601, rs370424081, rs786205221, rs786205222, rs864309684, rs864309688, rs864309701, rs864309689, rs864309690, rs864309681, rs864309686, rs864309696, rs864309693, rs864309687, rs864309691, rs864309692, rs864309695, rs864309678, rs864309685, rs864309700, rs864309698, rs864309683, rs864309682, rs864309679, rs111534978, rs864309680, rs864309702, rs864622780, rs756898971, rs869312732, rs775038545, rs878852983, rs1114167312, rs1114167313, rs1114167314, rs1114167315, rs1114167307, rs886041410, rs886041412, rs1057518738, rs1057517926, rs1057518878, rs1057519616, rs12799308, rs1064793935, rs1064797219, rs1085307126, rs1085307127, rs765628635, rs1114167427, rs1114167433, rs1554744860, rs1554743428, rs747093432, rs1411557416, rs1555179713, rs1481963503, rs1555549755, rs1456161420, rs1555547008, rs1555889308, rs1555888762, rs766522434, rs1264025914, rs1553585262, rs1567671947, rs1337897299, rs764945940, rs1307969607, rs949335475, rs1184095219, rs776129797, rs1569203234, rs1567668570, rs749141857, rs764098604, rs1184398243, rs1578956689, rs1568480054, rs1564745688, rs1564722302, rs1564723150, rs1571175950, rs1569602837, rs1576552712, rs1575369255, rs981126461, rs1570403798, rs200557771, rs1477743112, rs1651879427, rs1651881222, rs1651919374, rs2024441691, rs148284531, rs1246080692
Citrin deficiency	Citrin deficiency	rs80338722, rs80338725, rs80338719, rs80338723, rs80338726, rs80338721, rs80338724, rs80338715, rs80338727, rs80338729, rs80338716, rs80338717, rs398122839, rs80338720, rs746155190, rs763191789, rs758827458, rs1554335461, rs1562831765, rs962082210, rs1261058897, rs1178306013, rs764401478, rs761370420, rs768922690, rs1004549438, rs1312396424, rs1482630982, rs1792048079, rs1796684525	24586645, 10369257, 12512993, 27577219, 21507300, 27405544, 23022256, 22710133, 14680984, 19036621, 21134364
Citrullinemia	CITRULLINEMIA, TYPE II, NEONATAL-ONSET, Adult-onset citrullinemia type 2, Citrullinemia type II	rs80338722, rs80338725, rs80338719, rs80338723, rs80338726, rs121908636, rs121908638, rs121908639, rs121908640, rs121908641, rs121908642, rs121908643, rs121908644, rs121908645, rs121908646, rs121908647, rs80338721, rs80338724, rs80338715, rs80338727, rs80338729, rs80338716, rs80338717, rs398122839, rs398123130, rs192838388, rs148918985, rs398123131, rs371265106, rs727503814, rs786204648, rs770362721, rs786204537, rs786204460, rs751930594, rs771937610, rs777828000, rs80338720, rs1085307056, rs746155190, rs575001023, rs763389916, rs886039853, rs372128852, rs1057516960, rs1057516648, rs1057516544, rs1057516339, rs1057517259, rs982830431, rs762387914, rs1057516338, rs1057517402, rs763191789, rs1057520659, rs1060499612, rs765338121, rs758827458, rs1554725034, rs1439911743, rs936192871, rs1554725677, rs1554982237, rs756859126, rs1554982809, rs1554983719, rs1396766124, rs750780742, rs1554982824, rs1554722453, rs1554723160, rs1554723625, rs1554725033, rs1554982243, rs770944877, rs750214431, rs1213378896, rs1554982847, rs201623252, rs1554983717, rs1301613270, rs775791516, rs1564903969, rs1262020902, rs1562831765, rs962082210, rs748264993, rs1004492719, rs1261058897, rs771794639, rs761370420, rs768922690, rs1588475891, rs745404241, rs775305020, rs770585183, rs1313340299, rs374586230, rs1588495489, rs1588496214, rs1588508532, rs1312396424, rs1482630982, rs1846142146, rs549085827, rs1488840592	27604308, 11793471, 12424587, 21507300, 24327139, 24161253, 17880783, 16449956, 21507300, 10369257, 21134364, 21424115, 11281457, 15050970, 19470249, 12424587, 19036621, 24586645, 18392553, 14680984, 27604308
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
Hyperbilirubinemia	Hyperbilirubinemia	rs34993780, rs587784535, rs797046090, rs797046091
Hypercholesterolemia	Hypercholesterolemia	rs28942111, rs28942112, rs137852912, rs121908025, rs28942082, rs28942083, rs121908028, rs121908030, rs28942079, rs28942084, rs121908032, rs387906302, rs387906303, rs121908033, rs121908034, rs387906304, rs387906305, rs121908036, rs387906306, rs121908037, rs200238879, rs121908040, rs267607213, rs121908041, rs121908042, rs145787161, rs121908043, rs121908044, rs121908324, rs1557703339, rs121908325, rs1553170279, rs755104973, rs1461905374, rs781585299, rs751141, rs121918386, rs587776886, rs193922566, rs137943601, rs193922567, rs193922569, rs193922571, rs144467873, rs137853966, rs137853965, rs377271627, rs144172724, rs139043155, rs368657165, rs146200173, rs368562025, rs139624145, rs370777955, rs373646964, rs137929307, rs374045590, rs139617694, rs730880131, rs730880130, rs730882080, rs200727689, rs557344672, rs730882085, rs730882086, rs730882090, rs544453230, rs730882098, rs570942190, rs193922568, rs730882102, rs730882109, rs201102492, rs730882110, rs793888522, rs793888517, rs146651743, rs794728683, rs794728585, rs376459828, rs768563000, rs794728584, rs375009082, rs869025453, rs869025454, rs758194385, rs769446356, rs869320649, rs869320652, rs875989888, rs551747280, rs544203837, rs875989889, rs875989890, rs875989891, rs875989893, rs875989894, rs771019366, rs563390335, rs875989895, rs875989896, rs875989897, rs875989898, rs769383881, rs875989900, rs537484504, rs875989901, rs199774121, rs875989902, rs875989903, rs121908027, rs875989905, rs875989906, rs577934998, rs121908029, rs875989907, rs875989908, rs875989909, rs11547917, rs875989911, rs875989910, rs875989912, rs761954844, rs875989914, rs767767730, rs875989915, rs875989916, rs875989917, rs765696008, rs552422789, rs28942078, rs875989919, rs875989920, rs875989921, rs875989922, rs875989925, rs875989926, rs875989927, rs875989928, rs875989929, rs875989930, rs875989932, rs370245937, rs875989934, rs875989935, rs875989936, rs875989937, rs775092314, rs875989938, rs875989941, rs875989943, rs750518671, rs28942085, rs876657697, rs756039188, rs878854026, rs878854028, rs878854027, rs879254363, rs879254368, rs879254374, rs879254382, rs879254383, rs879254384, rs201016593, rs879254386, rs879254385, rs879254387, rs879254388, rs879254390, rs879254393, rs879254394, rs879254395, rs879254396, rs879254397, rs879254398, rs879254399, rs879254400, rs2228671, rs879254401, rs776421777, rs879254402, rs879254403, rs879254404, rs879254405, rs879254406, rs879254407, rs879254408, rs879254409, rs879254410, rs879254411, rs879254412, rs879254413, rs879254414, rs879254415, rs754676104, rs387906301, rs879254417, rs879254418, rs879254419, rs879254423, rs879254422, rs879254424, rs879254425, rs879254426, rs879254428, rs879254430, rs879254432, rs879254433, rs879254434, rs1555802710, rs879254435, rs879254436, rs879254437, rs879254438, rs879254439, rs758927662, rs879254440, rs879254442, rs879254443, rs879254445, rs879254447, rs879254446, rs879254448, rs879254452, rs199570811, rs879254453, rs879254455, rs777640882, rs749038326, rs372828849, rs745776977, rs879254456, rs879254457, rs139400379, rs372845091, rs879254458, rs879254459, rs879254460, rs879254461, rs764797225, rs879254464, rs879254463, rs879254465, rs112029328, rs879254466, rs879254467, rs879254470, rs879254471, rs879254472, rs879254475, rs879254476, rs879254477, rs879254478, rs879254479, rs879254480, rs879254481, rs774723292, rs879254482, rs879254485, rs879254483, rs879254484, rs879254487, rs879254488, rs879254489, rs879254490, rs879254491, rs879254492, rs879254493, rs879254494, rs879254496, rs879254497, rs879254499, rs875989899, rs879254500, rs879254501, rs879254502, rs879254503, rs879254505, rs879254504, rs879254506, rs879254507, rs879254509, rs879254510, rs879254512, rs879254514, rs879254515, rs879254516, rs755799528, rs879254517, rs879254518, rs748944640, rs879254519, rs879254520, rs879254521, rs879254522, rs879254523, rs879254524, rs879254525, rs879254526, rs879254528, rs879254530, rs879254531, rs879254532, rs879254533, rs879254534, rs879254535, rs879254536, rs766094434, rs879254537, rs879254538, rs763998635, rs879254540, rs879254542, rs879254543, rs879254545, rs879254546, rs879254547, rs879254548, rs752596535, rs879254549, rs879254550, rs879254551, rs879254552, rs879254554, rs879254555, rs879254557, rs879254556, rs879254558, rs879254560, rs879254559, rs769318035, rs879254561, rs879254562, rs879254563, rs879254565, rs879254564, rs879254566, rs879254567, rs879254568, rs879254569, rs879254570, rs879254572, rs879254571, rs879254573, rs879254574, rs879254575, rs879254577, rs879254579, rs879254580, rs879254581, rs879254582, rs879254584, rs748672083, rs879254588, rs879254591, rs879254592, rs879254593, rs879254594, rs879254595, rs879254596, rs879254597, rs879254598, rs879254599, rs879254600, rs771917370, rs879254602, rs879254605, rs879254606, rs764042910, rs879254607, rs879254608, rs879254610, rs879254609, rs879254611, rs879254612, rs879254613, rs879254614, rs879254615, rs879254616, rs879254358, rs1555803428, rs879254619, rs373822756, rs879254620, rs879254622, rs756613387, rs879254623, rs879254624, rs1555803424, rs879254627, rs879254625, rs879254626, rs879254628, rs879254629, rs879254630, rs1555803414, rs879254631, rs1555803423, rs1555803426, rs879254632, rs879254633, rs879254635, rs879254634, rs879254636, rs879254638, rs1555803427, rs879254639, rs879254640, rs879254641, rs879254642, rs746091400, rs879254644, rs121908035, rs879254645, rs879254646, rs879254647, rs879254651, rs879254652, rs1555803643, rs1555803644, rs879254653, rs879254655, rs879254656, rs879254658, rs879254659, rs879254660, rs879254662, rs879254663, rs879254664, rs879254666, rs759109699, rs879254667, rs879254668, rs879254669, rs879254670, rs879254671, rs879254672, rs879254673, rs879254674, rs879254675, rs879254677, rs879254678, rs879254681, rs879254682, rs879254683, rs773328511, rs879254684, rs879254685, rs879254686, rs879254688, rs879254689, rs879254691, rs879254692, rs730882089, rs879254693, rs140241383, rs375495026, rs879254697, rs879254696, rs879254699, rs879254700, rs879254701, rs879254702, rs879254703, rs879254704, rs879254705, rs879254706, rs879254708, rs879254710, rs879254712, rs767618089, rs879254713, rs879254714, rs879254716, rs879254717, rs757252110, rs879254718, rs879254719, rs879254720, rs879254721, rs879254723, rs879254725, rs879254727, rs879254728, rs13306512, rs879254729, rs879254734, rs112366278, rs879254735, rs879254736, rs746834464, rs879254737, rs879254738, rs879254739, rs879254740, rs879254743, rs879254744, rs879254745, rs879254746, rs879254747, rs879254748, rs879254749, rs767024374, rs879254751, rs879254752, rs879254753, rs879254754, rs879254755, rs879254757, rs755757866, rs879254758, rs777524402, rs730882096, rs879254760, rs879254761, rs879254762, rs879254763, rs879254764, rs748300548, rs879254765, rs879254767, rs879254768, rs879254769, rs13306515, rs879254770, rs879254771, rs879254773, rs879254774, rs755449669, rs879254775, rs879254777, rs879254778, rs879254781, rs879254780, rs879254782, rs879254783, rs879254784, rs879254786, rs879254788, rs879254789, rs746982741, rs879254791, rs768430352, rs113669610, rs879254792, rs879254794, rs879254796, rs879254797, rs879254799, rs1555804777, rs879254800, rs773064328, rs879254801, rs879254802, rs1555804793, rs879254804, rs879254805, rs879254807, rs879254806, rs879254811, rs879254812, rs879254814, rs879254813, rs879254815, rs879254816, rs879254817, rs879254820, rs879254819, rs879254821, rs879254823, rs879254824, rs879254826, rs879254827, rs879254828, rs879254829, rs879254830, rs879254832, rs879254833, rs879254835, rs879254837, rs879254838, rs879254839, rs879254840, rs879254841, rs879254842, rs879254844, rs879254846, rs773658037, rs869320651, rs774439908, rs879254848, rs879254849, rs879254850, rs879254851, rs879254854, rs879254855, rs879254856, rs745343524, rs879254857, rs879254858, rs779732323, rs879254859, rs879254862, rs879254863, rs879254864, rs879254865, rs879254866, rs879254867, rs879254868, rs879254869, rs879254872, rs879254873, rs879254874, rs775924858, rs879254875, rs531005522, rs879254879, rs879254880, rs879254881, rs879254882, rs879254883, rs879254884, rs879254885, rs879254886, rs879254887, rs879254888, rs879254892, rs879254893, rs201967266, rs879254896, rs879254898, rs879254899, rs879254901, rs879254902, rs879254904, rs879254907, rs879254906, rs879254913, rs879254915, rs879254916, rs879254918, rs879254919, rs751603969, rs879254921, rs879254922, rs879254923, rs755667663, rs879254924, rs730882103, rs879254927, rs879254929, rs879254930, rs879254931, rs879254932, rs879254933, rs879254935, rs879254939, rs879254941, rs755389753, rs879254945, rs879254947, rs879254948, rs879254949, rs879254950, rs879254951, rs746939188, rs879254952, rs879254955, rs879254956, rs879254957, rs879254958, rs879254959, rs769370816, rs879254962, rs879254963, rs879254964, rs879254965, rs759876319, rs879254966, rs28942081, rs879254967, rs879254970, rs879254969, rs879254971, rs28941776, rs879254973, rs879254972, rs879254975, rs879254976, rs879254977, rs879254978, rs879254979, rs879254980, rs879254981, rs879254982, rs879254985, rs879254984, rs879254986, rs879254988, rs879254989, rs746959386, rs879254990, rs879254991, rs879254994, rs879254996, rs879254998, rs879254999, rs879255000, rs138947766, rs879255001, rs879255003, rs879255004, rs879255005, rs879255006, rs879255007, rs879255009, rs879255008, rs879255011, rs879255012, rs879255013, rs879255014, rs879255015, rs879255016, rs875989931, rs879255019, rs879255020, rs879255021, rs879255022, rs879255026, rs753707206, rs879255027, rs879255028, rs879255029, rs879255031, rs879255032, rs879255033, rs879255034, rs879255035, rs879255038, rs879255037, rs879255039, rs879255041, rs879255044, rs879255046, rs879255049, rs879255050, rs879255051, rs879255052, rs747134711, rs879255053, rs879255054, rs879255055, rs875989933, rs879255057, rs879255058, rs879255059, rs879255060, rs879255061, rs879255063, rs879255065, rs879255066, rs879255069, rs879255068, rs879255070, rs754536745, rs879255073, rs879255076, rs879255077, rs879255078, rs879255079, rs879255082, rs1555807275, rs879255088, rs879255089, rs879255090, rs879255092, rs773693079, rs879255093, rs879255096, rs879255097, rs879255098, rs1555807306, rs879255101, rs879255102, rs879255104, rs752935814, rs879255106, rs150021927, rs879255107, rs879255109, rs879255108, rs879255110, rs879255112, rs770744861, rs745753810, rs879255113, rs879255114, rs879255115, rs879255116, rs879255117, rs760436036, rs879255118, rs201637900, rs121908031, rs879255120, rs879255121, rs2569548, rs879255122, rs879255123, rs879255124, rs879255126, rs879255125, rs879255127, rs751228587, rs879255128, rs879255130, rs369943481, rs879255131, rs879255132, rs879255133, rs879255134, rs112954220, rs776217028, rs879255135, rs879255136, rs879255138, rs879255139, rs879255140, rs879255141, rs879255142, rs879255144, rs879255145, rs879255146, rs879255147, rs879255153, rs879255155, rs879255156, rs879255157, rs879255158, rs879255159, rs879255160, rs879255161, rs879255163, rs879255164, rs370018159, rs879255166, rs879255167, rs879255168, rs879255169, rs879255172, rs879255174, rs763625913, rs879255175, rs879255176, rs879255177, rs879255178, rs879255181, rs879255185, rs879255186, rs879255188, rs879255187, rs767790696, rs879255193, rs879255194, rs879255196, rs879255197, rs879255198, rs879255200, rs879255202, rs879255204, rs773618064, rs879255207, rs879255209, rs879255210, rs879255212, rs879255213, rs879255215, rs879255217, rs747344293, rs879255218, rs879255219, rs879255222, rs377437226, rs879255224, rs879255227, rs879255229, rs1555803632, rs886039829, rs886039830, rs886039831, rs1057515537, rs774615547, rs1057516129, rs1057516132, rs1057516133, rs1057516135, rs777326720, rs751122998, rs1057516130, rs774069731, rs879254847, rs1057516134, rs867272973, rs1057516127, rs763147599, rs1057519647, rs1057519648, rs1057519649, rs1057519650, rs751317621, rs774016801, rs1057519652, rs1057519653, rs1057519654, rs1555803257, rs1057519655, rs879254601, rs1057519657, rs1057519662, rs879254618, rs1057519659, rs1057519660, rs1057519661, rs1057519663, rs1057519664, rs1057519665, rs1057519666, rs373869746, rs879254803, rs1057519668, rs1057519669, rs1057519670, rs1057519671, rs1057519672, rs1057519673, rs1057519674, rs879254993, rs1057519676, rs1057519679, rs1057519682, rs1057519683, rs1057519685, rs1057519687, rs1057519690, rs1060499931, rs1060499919, rs1064792905, rs1060499921, rs1060499922, rs1555805127, rs1060499923, rs1060499924, rs1060499926, rs1060499927, rs1555808044, rs1555808111, rs1060499930, rs770696696, rs1060500988, rs1060500987, rs879254637, rs1064794259, rs1555800611, rs1131692189, rs1555802312, rs1131692191, rs1131692192, rs1555803259, rs1131692193, rs1131692194, rs121908039, rs1131692195, rs1131692197, rs1131692198, rs148698650, rs1131692201, rs1131692202, rs879254715, rs370471092, rs1131692203, rs1131692204, rs1131692205, rs1131692206, rs1131692207, rs1131692208, rs1131692209, rs1131692210, rs1131692211, rs1131692214, rs1131692215, rs1131692217, rs1555806546, rs1131692219, rs879255095, rs1131692220, rs1131692221, rs200793488, rs1131692223, rs1131692224, rs1131692225, rs1131692226, rs1135402767, rs1555805507, rs1553137543, rs1382988295, rs1555802270, rs934496989, rs1555806455, rs1555807335, rs1555803481, rs1555804717, rs1372204035, rs1553135930, rs1057519691, rs1254346075, rs1553137693, rs1553137699, rs886046435, rs1553382295, rs1553382319, rs1553382325, rs1442815965, rs747606537, rs5742904, rs1553385404, rs1553385715, rs1555800620, rs1555800631, rs1555800632, rs1555800648, rs1555800724, rs1555802242, rs1555802245, rs1555802258, rs1555802287, rs200660051, rs1398808477, rs1555802822, rs752191968, rs1555803191, rs1555803213, rs879254529, rs754933794, rs1555803327, rs1555803337, rs1555803354, rs1013147010, rs1555803383, rs1555803391, rs753319170, rs1555803409, rs1555803432, rs1555803449, rs1555803641, rs1555803701, rs1555803837, rs1555803841, rs1555803879, rs1555803891, rs1555804443, rs1555804700, rs730882099, rs1225797407, rs879254871, rs1555805337, rs1555805348, rs1555805360, rs1555805380, rs1555805490, rs1555805530, rs1555805531, rs1555805985, rs1555806110, rs1555806448, rs1555806467, rs1555806582, rs778408161, rs1555807261, rs1555807390, rs1555807388, rs1555807421, rs1555807465, rs1555807475, rs1555808008, rs1555808107, rs1555808114, rs1555808118, rs1555808120, rs1555808139, rs875989942, rs1555809471, rs1555809490, rs1555809520, rs1555800701, rs762417023, rs1555802259, rs1555802291, rs1555803186, rs1555803254, rs1555803280, rs879254541, rs1555803455, rs1555803439, rs1555803471, rs1555803912, rs1555804467, rs1555804545, rs1555805947, rs879254992, rs1555807356, rs1555808143, rs1555805930, rs1201229554, rs1555806529, rs779921498, rs1555807206, rs753151497, rs1208216597, rs1555803908, rs1323416354, rs1555805409, rs1555805413, rs774467219, rs1555806088, rs1568600415, rs777903106, rs1568606711, rs1568610747, rs1568600459, rs1568592055, rs1568582652, rs1568591929, rs1568594903, rs1568600328, rs1600743301, rs750383461, rs1600683731, rs1600704961, rs1600715039, rs1600720921, rs1555804729, rs1600727337, rs1600727715, rs1600732894, rs1600726930, rs1600742966, rs1600762098, rs1600765031, rs1600715089, rs879255149, rs1600715567, rs1600732566, rs1257344396, rs1572802096, rs763778803, rs2044384127, rs2077272442, rs2077276411, rs2077276612, rs2077282480, rs2077297994, rs879254707, rs2077361078, rs2077408020, rs2077409930, rs2077412367, rs2077417709, rs2077419273, rs2077459772, rs2077475503, rs2077534881, rs762148512, rs140807148, rs2077460968, rs2077315885, rs2077271255
Hyperlysinemia	Hyperlysinemias	rs387906333, rs587777121, rs587777122, rs587777123, rs587777124, rs587777125, rs587777126
Intrahepatic cholestasis	Intrahepatic Cholestasis, Neonatal intrahepatic cholestasis due to citrin deficiency	rs121918299, rs80338722, rs80338725, rs80338719, rs80338723, rs80338726, rs72549401, rs11568372, rs1553469602, rs387907317, rs387906354, rs752919965, rs72549397, rs111033609, rs121909099, rs387906381, rs121909100, rs121909101, rs121909104, rs121909105, rs387906526, rs121918440, rs387906527, rs72552778, rs387906529, rs121918443, rs72552780, rs80338724, rs80338715, rs80338727, rs80338729, rs80338716, rs80338717, rs398122839, rs515726137, rs587777519, rs587777520, rs587777521, rs879255644, rs113090017, rs864321695, rs776869985, rs864321697, rs80338720, rs746155190, rs879255504, rs886041948, rs886042562, rs769910565, rs758069019, rs886043807, rs72549402, rs72549395, rs188824058, rs763782349, rs375315619, rs754287486, rs1057518679, rs1060499649, rs1060499579, rs1554660803, rs1554407511, rs774824767, rs771690686, rs752992432, rs1553466082, rs72549396, rs772294884, rs764513998, rs1202682161, rs759202962, rs1562774655, rs1562831765, rs1562945221, rs917981474, rs1558927163, rs765889649, rs1562976061, rs72549399, rs1459273753, rs377160065, rs1559183717, rs760750012, rs1051861187, rs1558898789, rs928915940, rs752757689, rs1584678508, rs764581483, rs1574453508, rs751511532, rs1182781290, rs376368459, rs762702807, rs1578499691, rs199791850, rs1452792080, rs1458423947, rs1584747270, rs1584750653, rs1599066459, rs1599069873, rs1599166106, rs1574462504, rs1593114820, rs1057524081, rs1588081022, rs777460754, rs1251192873, rs1588117076, rs748671901, rs139314808, rs749009273, rs1588080674, rs1588080680, rs1588127136, rs1588135086, rs757693457, rs1574445178, rs768922690, rs1584422832, rs1584433525, rs1312396424, rs1792048079, rs774411820, rs575729461
Tyrosinemia	Tyrosinemias	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

Unknown
Disease name	Disease term	dbSNP ID	References
Cirrhosis	Cirrhosis	rs119465999, rs144369314, rs8056684, rs112053857, rs75998507
Delayed menarche	Delayed menarche
Delirium	Delirium
Delusions	Delusions
Fatty liver	Fatty Liver, Steatohepatitis
Hallucinations	Hallucinations
Hepatic encephalopathy	Hepatic Encephalopathy
Hypoalbuminemia	Hypoalbuminemia
Hypoproteinemia	Hypoproteinemia
Ketonuria	Ketonuria
Liver carcinoma	Liver carcinoma
Liver fibrosis	Fibrosis, Liver
Manic disorder	Manic
Pancreatitis	Pancreatitis	rs61734659
Physiologic amenorrhea	Primary physiologic amenorrhea
Psychosis	Psychotic Disorders