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

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	6576
Gene name Gene Name - the full gene name approved by the HGNC.	Solute carrier family 25 member 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	SLC25A1
Synonyms (NCBI Gene) Gene synonyms aliases	CIC, CMS23, CTP, D2L2AD, SEA, SLC20A3
Disease Acronyms (UniProt) Disease acronyms from UniProt database	CMS23, D2L2AD
Chromosome Chromosome number	22
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	22q11.21
Summary Summary of gene provided in NCBI Entrez Gene.	This gene encodes a member of the mitochondrial carrier subfamily of solute carrier proteins. Members of this family include nuclear-encoded transporters that translocate small metabolites across the mitochondrial membrane. This protein regulates the move

Show/Hide all(9)

SNP ID	Visualize variation	Clinical significance	Consequence
rs368647424	C>T	Pathogenic	Coding sequence variant, intron variant, missense variant
rs431905509	G>A,C	Pathogenic, likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs431905510	C>G,T	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs483352910	G>A	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs483352911	TTGTTCCCGC>-	Pathogenic, likely-pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs781908532	C>A,T	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs781974501	C>A,T	Pathogenic	Splice donor variant
rs1064794784	ATCAGAGGG>GAGGTC	Likely-pathogenic	Coding sequence variant, non coding transcript variant, inframe indel
rs1555923089	C>A	Pathogenic	Splice donor variant

Show/Hide all(296)

miRTarBase ID	miRNA	Experiments	Reference
MIRT001333	hsa-miR-1-3p	pSILAC	18668040
MIRT018228	hsa-miR-335-5p	Microarray	18185580
MIRT001333	hsa-miR-1-3p	Proteomics;Microarray	18668037
MIRT001333	hsa-miR-1-3p	Proteomics	18668040
MIRT001593	hsa-let-7b-5p	Proteomics	18668040
MIRT051777	hsa-let-7c-5p	CLASH	23622248
MIRT045980	hsa-miR-125b-5p	CLASH	23622248
MIRT042855	hsa-miR-324-3p	CLASH	23622248
MIRT039928	hsa-miR-615-3p	CLASH	23622248
MIRT038480	hsa-miR-296-3p	CLASH	23622248
MIRT037655	hsa-miR-744-5p	CLASH	23622248
MIRT037655	hsa-miR-744-5p	CLASH	23622248
MIRT037274	hsa-miR-877-5p	CLASH	23622248
MIRT1355194	hsa-miR-1	CLIP-seq
MIRT1355195	hsa-miR-10a	CLIP-seq
MIRT1355196	hsa-miR-10b	CLIP-seq
MIRT1355197	hsa-miR-1200	CLIP-seq
MIRT1355198	hsa-miR-1207-5p	CLIP-seq
MIRT1355199	hsa-miR-1227	CLIP-seq
MIRT1355200	hsa-miR-124	CLIP-seq
MIRT1355201	hsa-miR-1246	CLIP-seq
MIRT1355202	hsa-miR-1271	CLIP-seq
MIRT1355203	hsa-miR-128	CLIP-seq
MIRT1355204	hsa-miR-1290	CLIP-seq
MIRT1355205	hsa-miR-1293	CLIP-seq
MIRT1355206	hsa-miR-1302	CLIP-seq
MIRT1355207	hsa-miR-140-3p	CLIP-seq
MIRT1355208	hsa-miR-1538	CLIP-seq
MIRT1355209	hsa-miR-182	CLIP-seq
MIRT1355210	hsa-miR-1827	CLIP-seq
MIRT1355211	hsa-miR-185	CLIP-seq
MIRT1355212	hsa-miR-206	CLIP-seq
MIRT1355213	hsa-miR-217	CLIP-seq
MIRT1355214	hsa-miR-2277-3p	CLIP-seq
MIRT1355215	hsa-miR-3167	CLIP-seq
MIRT1355216	hsa-miR-3180	CLIP-seq
MIRT1355217	hsa-miR-3180-3p	CLIP-seq
MIRT1355218	hsa-miR-3190	CLIP-seq
MIRT1355219	hsa-miR-3196	CLIP-seq
MIRT1355220	hsa-miR-3202	CLIP-seq
MIRT1355221	hsa-miR-323-5p	CLIP-seq
MIRT1355222	hsa-miR-339-5p	CLIP-seq
MIRT1355223	hsa-miR-3612	CLIP-seq
MIRT1355224	hsa-miR-3620	CLIP-seq
MIRT1355225	hsa-miR-3652	CLIP-seq
MIRT1355226	hsa-miR-3673	CLIP-seq
MIRT1355227	hsa-miR-377	CLIP-seq
MIRT1355228	hsa-miR-4269	CLIP-seq
MIRT1355229	hsa-miR-4298	CLIP-seq
MIRT1355230	hsa-miR-4306	CLIP-seq
MIRT1355231	hsa-miR-4312	CLIP-seq
MIRT1355232	hsa-miR-4324	CLIP-seq
MIRT1355233	hsa-miR-4418	CLIP-seq
MIRT1355234	hsa-miR-4430	CLIP-seq
MIRT1355235	hsa-miR-4436b-3p	CLIP-seq
MIRT1355236	hsa-miR-4483	CLIP-seq
MIRT1355237	hsa-miR-4505	CLIP-seq
MIRT1355238	hsa-miR-4515	CLIP-seq
MIRT1355239	hsa-miR-4533	CLIP-seq
MIRT1355240	hsa-miR-4536	CLIP-seq
MIRT1355241	hsa-miR-4640-5p	CLIP-seq
MIRT1355242	hsa-miR-4643	CLIP-seq
MIRT1355243	hsa-miR-4644	CLIP-seq
MIRT1355244	hsa-miR-4685-5p	CLIP-seq
MIRT1355245	hsa-miR-4690-5p	CLIP-seq
MIRT1355246	hsa-miR-4691-3p	CLIP-seq
MIRT1355247	hsa-miR-4693-3p	CLIP-seq
MIRT1355248	hsa-miR-4715-3p	CLIP-seq
MIRT1355249	hsa-miR-4717-3p	CLIP-seq
MIRT1355250	hsa-miR-4717-5p	CLIP-seq
MIRT1355251	hsa-miR-4726-5p	CLIP-seq
MIRT1355252	hsa-miR-4727-5p	CLIP-seq
MIRT1355253	hsa-miR-4736	CLIP-seq
MIRT1355254	hsa-miR-4745-3p	CLIP-seq
MIRT1355255	hsa-miR-4746-3p	CLIP-seq
MIRT1355256	hsa-miR-4747-3p	CLIP-seq
MIRT1355257	hsa-miR-4755-3p	CLIP-seq
MIRT1355258	hsa-miR-4763-3p	CLIP-seq
MIRT1355259	hsa-miR-4778-5p	CLIP-seq
MIRT1355260	hsa-miR-4786-3p	CLIP-seq
MIRT1355261	hsa-miR-4793-3p	CLIP-seq
MIRT1355262	hsa-miR-4797-5p	CLIP-seq
MIRT1355263	hsa-miR-4802-3p	CLIP-seq
MIRT1355264	hsa-miR-490-5p	CLIP-seq
MIRT1355265	hsa-miR-506	CLIP-seq
MIRT1355266	hsa-miR-509-3-5p	CLIP-seq
MIRT1355267	hsa-miR-509-5p	CLIP-seq
MIRT1355268	hsa-miR-514	CLIP-seq
MIRT1355269	hsa-miR-514b-3p	CLIP-seq
MIRT1355270	hsa-miR-541	CLIP-seq
MIRT1355271	hsa-miR-544b	CLIP-seq
MIRT1355272	hsa-miR-548m	CLIP-seq
MIRT1355273	hsa-miR-548v	CLIP-seq
MIRT1355274	hsa-miR-597	CLIP-seq
MIRT1355275	hsa-miR-613	CLIP-seq
MIRT1355276	hsa-miR-642b	CLIP-seq
MIRT1355277	hsa-miR-650	CLIP-seq
MIRT1355278	hsa-miR-654-5p	CLIP-seq
MIRT1355279	hsa-miR-876-3p	CLIP-seq
MIRT1355280	hsa-miR-876-5p	CLIP-seq
MIRT1355281	hsa-miR-96	CLIP-seq
MIRT1355194	hsa-miR-1	CLIP-seq
MIRT2105213	hsa-miR-1184	CLIP-seq
MIRT2105214	hsa-miR-1197	CLIP-seq
MIRT1355201	hsa-miR-1246	CLIP-seq
MIRT1355202	hsa-miR-1271	CLIP-seq
MIRT1355203	hsa-miR-128	CLIP-seq
MIRT2105215	hsa-miR-1286	CLIP-seq
MIRT1355204	hsa-miR-1290	CLIP-seq
MIRT1355206	hsa-miR-1302	CLIP-seq
MIRT1355207	hsa-miR-140-3p	CLIP-seq
MIRT1355208	hsa-miR-1538	CLIP-seq
MIRT1355209	hsa-miR-182	CLIP-seq
MIRT1355210	hsa-miR-1827	CLIP-seq
MIRT2105216	hsa-miR-1908	CLIP-seq
MIRT2105217	hsa-miR-1909	CLIP-seq
MIRT1355212	hsa-miR-206	CLIP-seq
MIRT1355213	hsa-miR-217	CLIP-seq
MIRT1355214	hsa-miR-2277-3p	CLIP-seq
MIRT2105218	hsa-miR-3126-5p	CLIP-seq
MIRT1355215	hsa-miR-3167	CLIP-seq
MIRT2105219	hsa-miR-3179	CLIP-seq
MIRT1355216	hsa-miR-3180	CLIP-seq
MIRT1355217	hsa-miR-3180-3p	CLIP-seq
MIRT1355219	hsa-miR-3196	CLIP-seq
MIRT1355220	hsa-miR-3202	CLIP-seq
MIRT1355221	hsa-miR-323-5p	CLIP-seq
MIRT2105220	hsa-miR-331-3p	CLIP-seq
MIRT1355223	hsa-miR-3612	CLIP-seq
MIRT2105221	hsa-miR-3649	CLIP-seq
MIRT1355225	hsa-miR-3652	CLIP-seq
MIRT1355226	hsa-miR-3673	CLIP-seq
MIRT1355227	hsa-miR-377	CLIP-seq
MIRT2105222	hsa-miR-3918	CLIP-seq
MIRT1355229	hsa-miR-4298	CLIP-seq
MIRT2105223	hsa-miR-4308	CLIP-seq
MIRT1355233	hsa-miR-4418	CLIP-seq
MIRT1355234	hsa-miR-4430	CLIP-seq
MIRT2105224	hsa-miR-4434	CLIP-seq
MIRT2105225	hsa-miR-4436a	CLIP-seq
MIRT1355237	hsa-miR-4505	CLIP-seq
MIRT2105226	hsa-miR-4516	CLIP-seq
MIRT1355240	hsa-miR-4536	CLIP-seq
MIRT1355241	hsa-miR-4640-5p	CLIP-seq
MIRT1355242	hsa-miR-4643	CLIP-seq
MIRT1355244	hsa-miR-4685-5p	CLIP-seq
MIRT1355245	hsa-miR-4690-5p	CLIP-seq
MIRT1355246	hsa-miR-4691-3p	CLIP-seq
MIRT1355249	hsa-miR-4717-3p	CLIP-seq
MIRT1355250	hsa-miR-4717-5p	CLIP-seq
MIRT1355251	hsa-miR-4726-5p	CLIP-seq
MIRT1355254	hsa-miR-4745-3p	CLIP-seq
MIRT1355255	hsa-miR-4746-3p	CLIP-seq
MIRT1355256	hsa-miR-4747-3p	CLIP-seq
MIRT2105227	hsa-miR-4747-5p	CLIP-seq
MIRT2105228	hsa-miR-4753-5p	CLIP-seq
MIRT1355257	hsa-miR-4755-3p	CLIP-seq
MIRT1355260	hsa-miR-4786-3p	CLIP-seq
MIRT1355261	hsa-miR-4793-3p	CLIP-seq
MIRT1355262	hsa-miR-4797-5p	CLIP-seq
MIRT1355263	hsa-miR-4802-3p	CLIP-seq
MIRT1355264	hsa-miR-490-5p	CLIP-seq
MIRT2105229	hsa-miR-494	CLIP-seq
MIRT1355266	hsa-miR-509-3-5p	CLIP-seq
MIRT1355267	hsa-miR-509-5p	CLIP-seq
MIRT1355268	hsa-miR-514	CLIP-seq
MIRT1355269	hsa-miR-514b-3p	CLIP-seq
MIRT1355272	hsa-miR-548m	CLIP-seq
MIRT1355273	hsa-miR-548v	CLIP-seq
MIRT1355274	hsa-miR-597	CLIP-seq
MIRT2105230	hsa-miR-602	CLIP-seq
MIRT1355275	hsa-miR-613	CLIP-seq
MIRT1355276	hsa-miR-642b	CLIP-seq
MIRT1355277	hsa-miR-650	CLIP-seq
MIRT2105231	hsa-miR-663	CLIP-seq
MIRT2105232	hsa-miR-744	CLIP-seq
MIRT1355279	hsa-miR-876-3p	CLIP-seq
MIRT1355280	hsa-miR-876-5p	CLIP-seq
MIRT1355281	hsa-miR-96	CLIP-seq
MIRT1355197	hsa-miR-1200	CLIP-seq
MIRT1355198	hsa-miR-1207-5p	CLIP-seq
MIRT1355200	hsa-miR-124	CLIP-seq
MIRT1355201	hsa-miR-1246	CLIP-seq
MIRT1355202	hsa-miR-1271	CLIP-seq
MIRT1355203	hsa-miR-128	CLIP-seq
MIRT1355204	hsa-miR-1290	CLIP-seq
MIRT1355205	hsa-miR-1293	CLIP-seq
MIRT1355206	hsa-miR-1302	CLIP-seq
MIRT1355207	hsa-miR-140-3p	CLIP-seq
MIRT1355208	hsa-miR-1538	CLIP-seq
MIRT1355209	hsa-miR-182	CLIP-seq
MIRT1355210	hsa-miR-1827	CLIP-seq
MIRT1355213	hsa-miR-217	CLIP-seq
MIRT2105218	hsa-miR-3126-5p	CLIP-seq
MIRT1355215	hsa-miR-3167	CLIP-seq
MIRT2105219	hsa-miR-3179	CLIP-seq
MIRT1355218	hsa-miR-3190	CLIP-seq
MIRT1355220	hsa-miR-3202	CLIP-seq
MIRT1355221	hsa-miR-323-5p	CLIP-seq
MIRT1355223	hsa-miR-3612	CLIP-seq
MIRT1355225	hsa-miR-3652	CLIP-seq
MIRT1355227	hsa-miR-377	CLIP-seq
MIRT1355229	hsa-miR-4298	CLIP-seq
MIRT1355231	hsa-miR-4312	CLIP-seq
MIRT1355232	hsa-miR-4324	CLIP-seq
MIRT1355233	hsa-miR-4418	CLIP-seq
MIRT1355234	hsa-miR-4430	CLIP-seq
MIRT1355235	hsa-miR-4436b-3p	CLIP-seq
MIRT1355236	hsa-miR-4483	CLIP-seq
MIRT1355237	hsa-miR-4505	CLIP-seq
MIRT1355239	hsa-miR-4533	CLIP-seq
MIRT1355240	hsa-miR-4536	CLIP-seq
MIRT1355241	hsa-miR-4640-5p	CLIP-seq
MIRT1355242	hsa-miR-4643	CLIP-seq
MIRT1355244	hsa-miR-4685-5p	CLIP-seq
MIRT1355246	hsa-miR-4691-3p	CLIP-seq
MIRT1355247	hsa-miR-4693-3p	CLIP-seq
MIRT1355249	hsa-miR-4717-3p	CLIP-seq
MIRT1355250	hsa-miR-4717-5p	CLIP-seq
MIRT1355251	hsa-miR-4726-5p	CLIP-seq
MIRT1355252	hsa-miR-4727-5p	CLIP-seq
MIRT1355253	hsa-miR-4736	CLIP-seq
MIRT1355254	hsa-miR-4745-3p	CLIP-seq
MIRT1355255	hsa-miR-4746-3p	CLIP-seq
MIRT1355256	hsa-miR-4747-3p	CLIP-seq
MIRT2105227	hsa-miR-4747-5p	CLIP-seq
MIRT1355257	hsa-miR-4755-3p	CLIP-seq
MIRT1355258	hsa-miR-4763-3p	CLIP-seq
MIRT1355260	hsa-miR-4786-3p	CLIP-seq
MIRT1355261	hsa-miR-4793-3p	CLIP-seq
MIRT1355262	hsa-miR-4797-5p	CLIP-seq
MIRT1355263	hsa-miR-4802-3p	CLIP-seq
MIRT1355264	hsa-miR-490-5p	CLIP-seq
MIRT2105229	hsa-miR-494	CLIP-seq
MIRT1355265	hsa-miR-506	CLIP-seq
MIRT1355266	hsa-miR-509-3-5p	CLIP-seq
MIRT1355267	hsa-miR-509-5p	CLIP-seq
MIRT1355271	hsa-miR-544b	CLIP-seq
MIRT1355273	hsa-miR-548v	CLIP-seq
MIRT1355274	hsa-miR-597	CLIP-seq
MIRT1355276	hsa-miR-642b	CLIP-seq
MIRT1355277	hsa-miR-650	CLIP-seq
MIRT1355279	hsa-miR-876-3p	CLIP-seq
MIRT1355280	hsa-miR-876-5p	CLIP-seq
MIRT1355281	hsa-miR-96	CLIP-seq
MIRT1355201	hsa-miR-1246	CLIP-seq
MIRT1355207	hsa-miR-140-3p	CLIP-seq
MIRT1355242	hsa-miR-4643	CLIP-seq
MIRT1355249	hsa-miR-4717-3p	CLIP-seq
MIRT1355263	hsa-miR-4802-3p	CLIP-seq
MIRT1355264	hsa-miR-490-5p	CLIP-seq
MIRT1355276	hsa-miR-642b	CLIP-seq
MIRT1355262	hsa-miR-4797-5p	CLIP-seq
MIRT1355273	hsa-miR-548v	CLIP-seq
MIRT1355202	hsa-miR-1271	CLIP-seq
MIRT1355209	hsa-miR-182	CLIP-seq
MIRT2105218	hsa-miR-3126-5p	CLIP-seq
MIRT2624002	hsa-miR-3131	CLIP-seq
MIRT2105219	hsa-miR-3179	CLIP-seq
MIRT1355220	hsa-miR-3202	CLIP-seq
MIRT2105221	hsa-miR-3649	CLIP-seq
MIRT2105222	hsa-miR-3918	CLIP-seq
MIRT1355241	hsa-miR-4640-5p	CLIP-seq
MIRT1355244	hsa-miR-4685-5p	CLIP-seq
MIRT1355251	hsa-miR-4726-5p	CLIP-seq
MIRT2105227	hsa-miR-4747-5p	CLIP-seq
MIRT2624003	hsa-miR-4751	CLIP-seq
MIRT1355262	hsa-miR-4797-5p	CLIP-seq
MIRT1355273	hsa-miR-548v	CLIP-seq
MIRT2624004	hsa-miR-611	CLIP-seq
MIRT2624005	hsa-miR-711	CLIP-seq
MIRT1355281	hsa-miR-96	CLIP-seq
MIRT1355202	hsa-miR-1271	CLIP-seq
MIRT1355209	hsa-miR-182	CLIP-seq
MIRT2690971	hsa-miR-1972	CLIP-seq
MIRT2105218	hsa-miR-3126-5p	CLIP-seq
MIRT2624002	hsa-miR-3131	CLIP-seq
MIRT2105219	hsa-miR-3179	CLIP-seq
MIRT1355220	hsa-miR-3202	CLIP-seq
MIRT2105221	hsa-miR-3649	CLIP-seq
MIRT2105222	hsa-miR-3918	CLIP-seq
MIRT1355228	hsa-miR-4269	CLIP-seq
MIRT1355241	hsa-miR-4640-5p	CLIP-seq
MIRT1355244	hsa-miR-4685-5p	CLIP-seq
MIRT1355250	hsa-miR-4717-5p	CLIP-seq
MIRT1355251	hsa-miR-4726-5p	CLIP-seq
MIRT2105227	hsa-miR-4747-5p	CLIP-seq
MIRT2624003	hsa-miR-4751	CLIP-seq
MIRT1355262	hsa-miR-4797-5p	CLIP-seq
MIRT2105229	hsa-miR-494	CLIP-seq
MIRT1355273	hsa-miR-548v	CLIP-seq
MIRT2105230	hsa-miR-602	CLIP-seq
MIRT2624004	hsa-miR-611	CLIP-seq
MIRT1355276	hsa-miR-642b	CLIP-seq
MIRT2624005	hsa-miR-711	CLIP-seq
MIRT1355281	hsa-miR-96	CLIP-seq

Show/Hide all(10)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005634	Component	Nucleus	HDA	21630459
GO:0005743	Component	Mitochondrial inner membrane	TAS
GO:0006094	Process	Gluconeogenesis	TAS
GO:0006843	Process	Mitochondrial citrate transmembrane transport	IBA	21873635
GO:0015137	Function	Citrate transmembrane transporter activity	TAS	8666394
GO:0015142	Function	Tricarboxylic acid transmembrane transporter activity	TAS
GO:0016021	Component	Integral component of membrane	IEA
GO:0046949	Process	Fatty-acyl-CoA biosynthetic process	TAS
GO:0070062	Component	Extracellular exosome	HDA	19056867
GO:0071913	Function	Citrate secondary active transmembrane transporter activity	IDA	29031613

MIM	HGNC	e!Ensembl
190315	10979	ENSG00000100075

Protein

UniProt ID

P53007

Protein name

Tricarboxylate transport protein, mitochondrial (Citrate transport protein) (CTP) (Mitochondrial citrate carrier) (CIC) (Solute carrier family 25 member 1) (Tricarboxylate carrier protein)

Protein function

Mitochondrial electroneutral antiporter that exports citrate from the mitochondria into the cytosol in exchange for malate (PubMed:26870663, PubMed:29031613, PubMed:29238895, PubMed:39881208). Also able to mediate the exchange of citrate for iso

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00153	Mito_carr	21 → 116	Mitochondrial carrier protein	Family
PF00153	Mito_carr	117 → 213	Mitochondrial carrier protein	Family
PF00153	Mito_carr	216 → 308	Mitochondrial carrier protein	Family

Sequence

MPAPRAPRALAAAAPASGKAKLTHPGKAILAGGLAGGIEICITFPTEYVKTQLQLDERSH
PPRYRGIGDCVRQTVRSHGVLGLYRGLSSLLYGSIPKAAVRFGMFEFLSNHMRDAQGRLD
STRGLLCGLGAGVAEAVVVVCPMETIKVKFIHDQTSPNPKYRGFFHGVREIVREQGLKGT
YQGLTATVLKQGSNQAIRFFVMTSLRNWYRGDNPNKPMNPLITGVFGAIAGAASVFGNTP
LDVIKTRMQGLEAHKYRNTWDCGLQILKKEGLKAFYKGTVPRLGRVCLDVAIVFVIYDEV
VKLLNKVWKTD

Sequence length

311

Interactions

View interactions

	Reactome
			Gluconeogenesis Fatty acyl-CoA biosynthesis

Show/Hide Causal Diseases (12)

Disease term	Disease name	dbSNP ID	References
Causal
Agenesis of corpus callosum	Agenesis of corpus callosum	rs754914260, rs1057519053, rs1057519056, rs1057519054, rs1057519055, rs1057519057, rs1384496494, rs1599017933
Arthrogryposis multiplex congenita	Arthrogryposis	rs1586285494, rs80358233, rs137853305, rs1559154278, rs398124167, rs398124172, rs587780399, rs786204576, rs786204430, rs769345284, rs749355583, rs793888524, rs793888525, rs878854368, rs555445835 View all (138 more)
Myasthenic syndrome	Congenital Myasthenic Syndromes, Presynaptic, Presynaptic congenital myasthenic syndromes, MYASTHENIC SYNDROME, CONGENITAL, 23, PRESYNAPTIC	rs606231128, rs606231129, rs606231130, rs606231131, rs606231132, rs118203994, rs118203995, rs863223277, rs606231133, rs121908547, rs121908553, rs121908557, rs104893733, rs104893734, rs121908922 View all (237 more)	26870663, 29031613
Developmental delay	Global developmental delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291 View all (32 more)
Epileptic encephalopathy	Encephalopathies	rs587776508, rs121918334, rs121918317, rs121918321, rs74315390, rs28939684, rs74315391, rs74315392, rs118192244, rs121918622, rs121918623, rs121917953, rs121917955, rs121918624, rs121918625 View all (860 more)
Hearing loss	Sensorineural Hearing Loss (disorder)	rs267607135, rs267606855, rs779841884, rs267606854, rs28942097, rs121908073, rs121908076, rs74315289, rs121908144, rs111033313, rs74315437, rs121908348, rs121908349, rs121908350, rs397515359 View all (184 more)
Hydrocephalus	Hydrocephalus	rs387907320, rs369384363, rs387907321, rs372127610, rs770273135, rs797045095, rs797045707, rs769795916, rs781251438, rs922703465, rs376078512, rs1567043467, rs1587149916, rs1586841546
Mental retardation	Intellectual Disability	rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315 View all (1024 more)
Myasthenia gravis	Myasthenias	rs5030818, rs121912815, rs121912817, rs121912818, rs121912821, rs75466054, rs121912822, rs121912823, rs794727516, rs764497513, rs376808313, rs1279554995, rs1554802792, rs369251527, rs372760913 View all (8 more)
Nystagmus	Nystagmus	rs137852207, rs137852208, rs1928435502, rs137852209, rs137852210, rs1929191668, rs137852211, rs137852212, rs2124209414, rs387906720, rs387906721, rs1602791884, rs786205896
Polyneuropathy	Polyneuropathy, Motor	rs1597597437
Ventricular septal defect	Ventricular Septal Defects	rs104894073, rs387906775

Show/Hide Unknown Diseases (4)

Disease term	Disease name	Source
Unknown
Distal amyotrophy	Distal amyotrophy	ClinVar
Ptosis	Blepharoptosis, Ptosis	ClinVar
Myasthenic Syndrome	presynaptic congenital myasthenic syndrome	GenCC
Mitochondrial Diseases	mitochondrial disease	GenCC

Show/Hide Text Mining Associations (21)

Disease Name	Relationship Type	References
Associations from Text Mining
2 Hydroxyglutaricaciduria	Associate	23561848, 29238895, 31527857, 32660532
Behcet Syndrome	Stimulate	30050389
Brain Diseases	Associate	29031613, 32919421
Carcinoma Hepatocellular	Associate	29546056
Death	Associate	29031613
Developmental Disabilities	Associate	29031613
DiGeorge Syndrome	Associate	26221035, 36869225, 9326327
Disease	Associate	31527857, 32660532
Drug Related Side Effects and Adverse Reactions	Associate	29546056
Genetic Diseases Inborn	Associate	29031613
Glut1 Deficiency Syndrome	Stimulate	27856334
Inflammation	Associate	25072865
Intellectual Disability	Associate	27856334, 31527857, 32660532
Leukemia Myeloid Acute	Associate	38077322
Mitochondrial Diseases	Associate	31527857
Muscle Weakness	Associate	29031613
Myasthenic Syndromes Congenital	Associate	31527857, 32660532
Neoplasms	Associate	27856334, 29546056
Ovarian Neoplasms	Associate	20181382
Respiratory Distress Syndrome	Associate	29031613
Seizures	Associate	29031613

SLC25A1 (solute carrier family 25 member 1)