Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	10165
Gene name	Solute carrier family 25 member 13
Gene symbol	SLC25A13
Synonyms (NCBI Gene)	ARALAR2CITRINCTLN2NICCD
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

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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

109

Show/Hide all (109)

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

Show/Hide all (45)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000514	Function	3-sulfino-L-alanine: proton, glutamate antiporter activity	IDA	11566871
GO:0000514	Function	3-sulfino-L-alanine: proton, glutamate antiporter activity	IEA
GO:0000515	Function	Aspartate:glutamate, proton antiporter activity	IDA	11566871
GO:0000515	Function	Aspartate:glutamate, proton antiporter activity	IEA
GO:0005313	Function	L-glutamate transmembrane transporter activity	IBA
GO:0005313	Function	L-glutamate transmembrane transporter activity	IEA
GO:0005509	Function	Calcium ion binding	IDA	10642534, 25410934
GO:0005509	Function	Calcium ion binding	IEA
GO:0005515	Function	Protein binding	IPI	28514442, 33961781
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IDA	10642534, 11566871
GO:0005739	Component	Mitochondrion	IEA
GO:0005743	Component	Mitochondrial inner membrane	IDA	11566871
GO:0005743	Component	Mitochondrial inner membrane	IEA
GO:0005743	Component	Mitochondrial inner membrane	IEA
GO:0005743	Component	Mitochondrial inner membrane	ISS
GO:0005743	Component	Mitochondrial inner membrane	TAS
GO:0005886	Component	Plasma membrane	NAS	10642534
GO:0006094	Process	Gluconeogenesis	IEA
GO:0006754	Process	ATP biosynthetic process	IDA	12851387
GO:0006839	Process	Mitochondrial transport	NAS	10642534
GO:0015172	Function	Acidic amino acid transmembrane transporter activity	IEA
GO:0015183	Function	L-aspartate transmembrane transporter activity	IBA
GO:0015804	Process	Neutral amino acid transport	IEA
GO:0015810	Process	Aspartate transmembrane transport	IBA
GO:0015810	Process	Aspartate transmembrane transport	IDA	11566871
GO:0015810	Process	Aspartate transmembrane transport	IEA
GO:0015810	Process	Aspartate transmembrane transport	IEA
GO:0015813	Process	L-glutamate transmembrane transport	IBA
GO:0015813	Process	L-glutamate transmembrane transport	IDA	11566871
GO:0015813	Process	L-glutamate transmembrane transport	IEA
GO:0016020	Component	Membrane	IEA
GO:0042802	Function	Identical protein binding	IDA	25410934
GO:0043490	Process	Malate-aspartate shuttle	IBA
GO:0043490	Process	Malate-aspartate shuttle	IDA	11566871
GO:0043490	Process	Malate-aspartate shuttle	IEA
GO:0043490	Process	Malate-aspartate shuttle	IEA
GO:0043490	Process	Malate-aspartate shuttle	IGI	37647199
GO:0045333	Process	Cellular respiration	IDA	12851387
GO:0046872	Function	Metal ion binding	IEA
GO:0051592	Process	Response to calcium ion	IDA	11566871
GO:0051592	Process	Response to calcium ion	IEA
GO:0055085	Process	Transmembrane transport	IEA
GO:0070778	Process	L-aspartate transmembrane transport	IEA
GO:1902600	Process	Proton transmembrane transport	IEA

MIM	HGNC	e!Ensembl
603859	10983	ENSG00000004864

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

Tissue specificity

TISSUE SPECIFICITY: High levels in liver and low levels in kidney, pancreas, placenta, heart and brain. {ECO:0000269|PubMed:10369257, ECO:0000269|PubMed:10642534}.

Sequence

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

Sequence length

675

Interactions

View interactions

	Reactome
			Gluconeogenesis Aspartate and asparagine metabolism

1207

Show/Hide Causal Diseases (12)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Adult-onset citrullinemia type I	Pathogenic; Likely pathogenic	rs80338722, rs80338723, rs80338720, rs80338721, rs80338717	RCV006449350 RCV006449351 RCV006449362 RCV006449354 RCV006449355
Citrin deficiency	Likely pathogenic; Pathogenic	rs771583670, rs781452100, rs1794574986, rs201168119, rs879255502, rs1794536022, rs758827458, rs2116650029, rs2116663520, rs2116717319, rs1562844289, rs2116815571, rs1798487766, rs1255908000, rs762925301 View all (96 more)	RCV001379885 RCV001379390 RCV001378096 RCV001388329 RCV001381428 RCV001384102 RCV001388981 RCV001386601 RCV001382118 RCV001390452 RCV001380173 RCV001387206 RCV001388982 RCV001381994 RCV002544257 RCV001990703 RCV001875306 RCV001991872 RCV001991665 RCV001902844 RCV001864775 RCV001908312 RCV001932041 RCV001911648 RCV001865130 RCV001902012 RCV001914350 RCV001958904 RCV001975186 RCV001944743 RCV001909497 RCV001926856 RCV001993119 RCV001978515 RCV002014726 RCV002007457 RCV002007458 RCV001960532 RCV001956177 RCV001906644 RCV001883822 RCV001963086 RCV001949548 RCV002051468 RCV001922242 RCV002643901 RCV003112193 RCV002635333 RCV002710448 RCV002802010 RCV002810747 RCV002861572 RCV002876391 RCV002876643 RCV002894722 RCV002895164 RCV000808307 RCV000822371 RCV001247797 RCV000796573 RCV001060497 RCV002932236 RCV002968018 RCV003012037 RCV003043693 RCV003040081 RCV003047000 RCV000344746 RCV001854929 RCV003581940 RCV005100226 RCV005100227 RCV003741356 RCV003741357 RCV003581987 RCV003581440 RCV003581441 RCV003581442 RCV003583075 RCV003582070 RCV003741529 RCV003741709 RCV003741735 RCV003741720 RCV003741988 RCV003742098 RCV003740882 RCV003741070 RCV003740920 RCV003842918 RCV003858810 RCV003879239 RCV001058684 RCV001378585 RCV001851978 RCV001217432 RCV002513147 RCV000815004 RCV000811639 RCV000556924 RCV000806593 RCV000543573 RCV003581706 RCV001221001 RCV000823111 RCV000791562 RCV000796684 RCV001044508 RCV003581770 RCV001067356 RCV001061179 RCV001040084 RCV001054372 RCV001041184 RCV001220237 RCV001203153 RCV001208433 RCV001202155 RCV001232042 RCV001854367
CITRIN DEFICIENCY, NEONATAL ONSET	Pathogenic; Likely pathogenic	rs80338722, rs80338726, rs80338720	RCV005234780 RCV005234781 RCV005235125
Citrullinemia	Likely pathogenic; Pathogenic	rs1794574986, rs201168119, rs80338719, rs80338726, rs1311945646, rs80338724, rs80338716, rs763191789, rs758827458, rs962082210, rs1312396424, rs548769905, rs540149539, rs1269555090	RCV005606816 RCV005606823 RCV001826423 RCV001831516 RCV005610691 RCV001826486 RCV001831590 RCV001828382 RCV001834681 RCV001830599 RCV001832548 RCV001833784 RCV001833833 RCV001833772
Citrullinemia type I	Likely pathogenic; Pathogenic	rs761370420	RCV000987930
Citrullinemia type II	Pathogenic; Likely pathogenic	rs1794540164, rs973986984, rs1793999476, rs80338722, rs80338725, rs80338719, rs80338723, rs80338726, rs80338720, rs2485729429, rs534452813, rs80338721, rs80338729, rs80338717, rs1060499612 View all (3 more)	RCV003331247 RCV003388066 RCV002266455 RCV000006369 RCV000006371 RCV000006372 RCV000006373 RCV000006374 RCV000239614 RCV003231042 RCV003324175 RCV001262833 RCV003230369 RCV000779548 RCV000477873 RCV003226430 RCV003155369 RCV000404137
Citrullinemia, type II, adult-onset	Likely pathogenic; Pathogenic	rs771583670, rs781452100, rs201168119, rs879255502, rs758827458, rs2116717319, rs2116815571, rs762925301, rs1794001446, rs748094224, rs2116426311, rs780525233, rs1794924933, rs2116384200, rs1012084121 View all (77 more)	RCV003473920 RCV003473918 RCV004570967 RCV004570941 RCV003469750 RCV003469774 RCV005038200 RCV003475087 RCV003471206 RCV004571933 RCV002503498 RCV002503416 RCV003470969 RCV003475253 RCV003471113 RCV003475207 RCV003471124 RCV004571742 RCV003475256 RCV005032207 RCV003465985 RCV003475406 RCV002259301 RCV002259302 RCV003472982 RCV003472983 RCV003472984 RCV005045128 RCV002259321 RCV003466020 RCV004567798 RCV005047477 RCV005036739 RCV003472800 RCV003472801 RCV003472802 RCV003466384 RCV003466385 RCV003466386 RCV003466387 RCV003466388 RCV003466389 RCV003466390 RCV003466391 RCV003466392 RCV003466393 RCV003466394 RCV003466395 RCV003466396 RCV003466398 RCV003472803 RCV003472804 RCV003472805 RCV003472806 RCV003472807 RCV003472808 RCV003472809 RCV003472810 RCV003472811 RCV003472812 RCV003472813 RCV003472814 RCV003472815 RCV003472817 RCV003472818 RCV003472819 RCV003472820 RCV003472821 RCV004574098 RCV005038614 RCV004573607 RCV004573608 RCV004573609 RCV004573610 RCV004573611 RCV004573612 RCV002259307 RCV003473112 RCV003473113 RCV003473114 RCV002496427 RCV002496428 RCV002259308 RCV004568140 RCV005034068 RCV004569412 RCV003465657 RCV003467515 RCV003473532 RCV003473552 RCV005047282 RCV003473677 RCV003467721 RCV003473738 RCV003469344 RCV003474671
Malignant lymphoma, large B-cell, diffuse	Pathogenic	rs80338720	RCV005868120
Melanoma	Likely pathogenic; Pathogenic	rs761370420	RCV005912160
Neonatal intrahepatic cholestasis due to citrin deficiency	Likely pathogenic; Pathogenic	rs2116815571, rs2116426311, rs780525233, rs1012084121, rs973986984, rs762941850, rs2486089007, rs2485541958, rs1793999476, rs763272772, rs80338722, rs80338725, rs80338719, rs80338723, rs80338726 View all (29 more)	RCV005038200 RCV002503498 RCV002503416 RCV005031985 RCV002479573 RCV005032016 RCV002508347 RCV002509767 RCV005032207 RCV002285225 RCV000006370 RCV001004526 RCV001004531 RCV004786241 RCV000006375 RCV005045128 RCV000006368 RCV000239387 RCV000239388 RCV005047477 RCV005036739 RCV005047616 RCV005036822 RCV005038614 RCV005031445 RCV000020699 RCV000020700 RCV000020703 RCV000020704 RCV000020705 RCV000020707 RCV000477873 RCV005034068 RCV000721963 RCV000721964 RCV005036048 RCV001004528 RCV001004529 RCV001004530 RCV005047282 RCV004584421 RCV001376648 RCV002508296 RCV001376647 RCV000077782
Short-rib thoracic dysplasia 6 with or without polydactyly	Likely pathogenic	rs748094224	RCV005645353
SLC25A13-related disorder	Likely pathogenic; Pathogenic	rs780525233, rs1794541339, rs80338722, rs80338725, rs80338726, rs80338720, rs80338717, rs761370420, rs1792048079	RCV004743606 RCV003401975 RCV004742216 RCV004742217 RCV004742218 RCV003417766 RCV003924850 RCV003936241 RCV003405262

Show/Hide Unknown Diseases (16)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
-	no classification for the single variant	rs2485539395, rs2485539309	-
Cervical cancer	Likely benign	rs116974768, rs143747068	RCV005914753 RCV005916003
Chronic lymphocytic leukemia/small lymphocytic lymphoma	Likely benign	rs143747068	RCV005916007
Clear cell carcinoma of kidney	Likely benign	rs769993871	RCV005912684
Familial cancer of breast	Likely benign	rs143747068	RCV005916001
Familial pancreatic carcinoma	Likely benign	rs143747068	RCV005916004
Gastric cancer	Benign; Likely benign	rs201468457	RCV005897965
Hepatocellular carcinoma	Likely benign; Benign	rs751566503, rs201468457	RCV005927819 RCV005897964
Lung cancer	Likely benign	rs143747068	RCV005916006
Malignant tumor of esophagus	Likely benign	rs116974768, rs143747068	RCV005914752 RCV005916002
Malignant tumor of urinary bladder	Likely benign	rs765424417	RCV005930345
Ovarian serous cystadenocarcinoma	Benign; Likely benign	rs6969912, rs368491877	RCV005915804 RCV005898001
Sarcoma	Likely benign	rs143747068	RCV005916005
Thymoma	Likely benign	rs116974768	RCV005914754
Uterine carcinosarcoma	Likely benign	rs775532487	RCV005930395
Uterine corpus endometrial carcinoma	Likely benign	rs116974768, rs114859776	RCV005914755 RCV005919236

Show/Hide Text Mining Associations (38)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Adenocarcinoma of Lung	Associate	35238419, 37047726
Adult onset citrullinemia type 2	Associate	11566871, 12132524, 12512993, 14606711, 17000460, 18162705, 21979481, 22095253, 22892490, 23067347, 23394329, 24069319, 24282362, 24586645, 25110155 View all (18 more)
Adult onset citrullinemia type 2	Inhibit	20118603, 21908947, 28003588
Blood Coagulation Disorders	Associate	37146272
Carcinoma Hepatocellular	Associate	12512993, 14606711, 17000460, 21767414, 30995827
Cholestasis Intrahepatic	Associate	18162705, 20458766, 22892490, 23067347, 23901231, 27706244, 33497767, 37146272
Citrullinemia	Associate	17000460, 22892490
Colorectal Neoplasms	Associate	27924922
Consciousness Disorders	Associate	12132524
Esophageal Atresia	Associate	25216257
Fatty Liver	Associate	17000460, 22892490, 23067347, 34684069
Gait Disorders Neurologic	Associate	38497870
Genetic Diseases Inborn	Associate	27578510
Glioblastoma	Associate	37047726
Glioma	Associate	37047726
Hepatic Encephalopathy	Associate	21908947
HHH syndrome	Associate	38497870
Hyperammonemia	Associate	12512993, 25533124
Hyperferritinemia	Associate	22892490
Hyperlactatemia	Associate	37146272
Hypoglycemia	Associate	28516797, 37146272
Hypomyelination Global Cerebral	Associate	23067347
Infant Newborn Diseases	Associate	20200759, 23112554
Intellectual Disability	Associate	12512993
Jaundice	Associate	22095253, 34684069
Jaundice Neonatal	Associate	20614727, 31607264, 37146272
Liver Failure	Associate	22095253, 37146272
Melanoma Cutaneous Malignant	Associate	35607442
Metabolism Inborn Errors	Associate	33514801
Methylmalonic acidemia	Associate	33514801
Mucus Inspissation of Respiratory Tract	Associate	25216257
Neonatal onset citrullinemia type 2	Associate	18162705, 20200759, 20614727, 22095253, 23067347, 23112554, 24069319, 25216257, 27127784, 27405544, 28516797, 29376577, 31607264, 33050909, 33497767 View all (5 more)
Neoplasms	Associate	27924922, 35861108, 37047726
Non alcoholic Fatty Liver Disease	Associate	30799367
Pediatric acute onset neuropsychiatric syndrome	Associate	36079864
Stomach Neoplasms	Associate	37047726
Systemic carnitine deficiency	Associate	33050909
Urea Cycle Disorders Inborn	Associate	21979481, 25533124, 38497870

SLC25A13 (solute carrier family 25 member 13)