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	6576
Gene name	Solute carrier family 25 member 1
Gene symbol	SLC25A1
Synonyms (NCBI Gene)	CICCMS23CTPD2L2ADSEASLC20A3
Chromosome	22
Chromosome location	22q11.21
Summary	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

296

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 (20)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005634	Component	Nucleus	HDA	21630459
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IBA
GO:0005739	Component	Mitochondrion	IEA
GO:0005743	Component	Mitochondrial inner membrane	IEA
GO:0005743	Component	Mitochondrial inner membrane	ISS
GO:0006811	Process	Monoatomic ion transport	TAS
GO:0006843	Process	Mitochondrial citrate transmembrane transport	IBA
GO:0006843	Process	Mitochondrial citrate transmembrane transport	IDA	29031613
GO:0015137	Function	Citrate transmembrane transporter activity	TAS	8666394
GO:0015142	Function	Tricarboxylic acid transmembrane transporter activity	IDA	29031613
GO:0015142	Function	Tricarboxylic acid transmembrane transporter activity	TAS
GO:0015297	Function	Antiporter activity	IEA
GO:0016020	Component	Membrane	IEA
GO:0031966	Component	Mitochondrial membrane	IMP	39881208
GO:0055085	Process	Transmembrane transport	IEA
GO:0070062	Component	Extracellular exosome	HDA	19056867
GO:0071913	Function	Citrate secondary active transmembrane transporter activity	IBA
GO:0071913	Function	Citrate secondary active transmembrane transporter activity	IDA	29031613
GO:0110076	Process	Negative regulation of ferroptosis	IMP	39881208

MIM	HGNC	e!Ensembl
190315	10979	ENSG00000100075

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

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (5)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
2-hydroxyglutaric aciduria	Likely pathogenic; Pathogenic	rs781925968, rs431905509, rs483352911, rs781974501	RCV001706807 RCV000035018 RCV000035022 RCV000850394	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
D,L-2-hydroxyglutaric aciduria	Likely pathogenic; Pathogenic	rs431905509, rs431905510, rs483352910, rs483352911	RCV001801241 RCV001801242 RCV001801243 RCV001801245 RCV001801246	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Melanoma	Likely pathogenic	rs483352910	RCV005888967	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Myasthenic syndrome, congenital, 23, presynaptic	Likely pathogenic; Pathogenic	rs2517258643, rs2517258834, rs781908532, rs781974501	RCV003988787 RCV003990343 RCV000722131 RCV004813144	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
SLC25A1-related disorder	Likely pathogenic; Pathogenic	rs2517261569, rs139862803	RCV003902039 RCV003405478	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (13)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Cervical cancer	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMBINED D-2- AND L-2-HYDROXYGLUTARIC ACIDURIA	—	HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMBINED D-2-HYDROXYGLUTARIC ACIDURIA AND L-2-HYDROXYGLUTARIC ACIDURIA	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGEN MYASTHENIC SYNDROMES PRESYNAPTIC	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
D-2-HYDROXYGLUTARIC ACIDURIA	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MITOCHONDRIAL DISEASE	—	ClinGen, GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MITOCHONDRIAL DISEASES	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYASTHENIC SYNDROMES, CONGENITAL	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PRESYNAPTIC CONGENITAL MYASTHENIC SYNDROME	—	GenCC	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PRESYNAPTIC CONGENITAL MYASTHENIC SYNDROMES	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (143)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Acquired Kyphoscoliosis	Acquired Kyphoscoliosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	2473850		★★★★★ ★☆☆☆☆ Found in Text Mining only
Acute Megakaryocytic Leukemias	Megakaryocytic Leukemia	BEFREE	15687366		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of large intestine	Colorectal Cancer	BEFREE	30115754		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adrenocortical carcinoma	Adrenocortical carcinoma	BEFREE	10700725		★★★★★ ★☆☆☆☆ Found in Text Mining only
Agenesis of corpus callosum	Agenesis Of Corpus Callosum	BEFREE	23393310		★★★★★ ★☆☆☆☆ Found in Text Mining only
Agenesis of corpus callosum	Agenesis Of Corpus Callosum	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
alpha Thalassemia	Alpha thalassemia	Pubtator	31793705, 31906886, 34247821, 34511175, 34766575, 34782049, 35945425, 36099017	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
alpha-Thalassemia	alpha Thalassemia	BEFREE	1520607, 16042697, 16986175, 1733825, 17489847, 18710411, 21964516, 25118159, 25816038, 27241645, 2762043, 27891555, 28592815, 7901477, 9028451, 9128271 View all (1 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
alpha^+^ Thalassemia	alpha Thalassemia	BEFREE	1520607, 16042697, 16986175, 1733825, 17489847, 18710411, 21964516, 25086282, 25118159, 25816038, 27241645, 2762043, 27891555, 28592815, 7515267, 7901477, 9028451, 9128271 View all (3 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	Pubtator	39263910	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	BEFREE	9028451		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anemia hypochromic microcytic	Hypochromic microcytic anemia	Pubtator	32720864	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Anemia Sickle Cell	Sickle cell anemia	Pubtator	24025420, 31199523, 37678999, 8781536	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Arthrogryposis	Arthrogryposis multiplex congenita	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Autistic behavior	Autism	BEFREE	21660517		★★★★★ ★☆☆☆☆ Found in Text Mining only
Behcet Syndrome	Behcet Syndrome	BEFREE	30050389		★★★★★ ★☆☆☆☆ Found in Text Mining only
Behcet Syndrome	Behcet disease	Pubtator	30050389	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
beta Thalassemia	beta Thalassemia	BEFREE	11522274, 11559912, 18710411, 26365497, 29880180		★★★★★ ★☆☆☆☆ Found in Text Mining only
beta Thalassemia	Beta thalassemia	Pubtator	34782049	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
beta^+^ Thalassemia	beta Thalassemia	BEFREE	11522274, 11559912, 18710411, 26365497, 29880180		★★★★★ ★☆☆☆☆ Found in Text Mining only
beta^0^ Thalassemia	beta Thalassemia	BEFREE	22962223		★★★★★ ★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	22002027		★★★★★ ★☆☆☆☆ Found in Text Mining only
Blast Phase	Blast phase chronic myelogenous leukemia	BEFREE	3165725		★★★★★ ★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Brain Diseases	Brain disease	Pubtator	29031613, 32919421	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	27723507, 28655658, 29425304		★★★★★ ★☆☆☆☆ Found in Text Mining only
Bulbar palsy	Bulbar palsy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Byzanthine arch palate	High palate	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	2181375		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	29546056	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	22002027		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	29888201		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebellar Hypoplasia	Cerebellar Hypoplasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	27718078, 29439123, 31720820, 31727750		★★★★★ ★☆☆☆☆ Found in Text Mining only
Childhood Acute Myeloid Leukemia	Acute Myeloid Leukemia	BEFREE	30088438		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic rhinosinusitis with nasal polyps	Rhinosinusitis With Nasal Polyps	BEFREE	28123509		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cirrhosis	Cirrhosis	BEFREE	26907736, 27995739, 29577605, 31764818		★★★★★ ★☆☆☆☆ Found in Text Mining only
Clumsiness - motor delay	Motor delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	10918198		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	30042499		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Dysplasia Of The Hip	Developmental dysplasia of the hip	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital kyphoscoliosis	Congenital kyphoscoliosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Myasthenic Syndromes, Presynaptic	Myasthenic Syndrome	ORPHANET_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital pectus carinatum	Congenital Pectus Carinatum	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	30617482, 31466886		★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary Stenosis	Coronary Stenosis	BEFREE	28458600, 30826767		★★★★★ ★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	30334888		★★★★★ ★☆☆☆☆ Found in Text Mining only
Deglutition Disorders	Dysphagia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dermatitis Atopic	Atopic dermatitis	Pubtator	10931129	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dermatitis, Atopic	Dermatitis	BEFREE	31616226		★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	29031613	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
DiGeorge Syndrome	Digeorge syndrome	Pubtator	26221035, 36869225, 9326327	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
DiGeorge Syndrome	DiGeorge Syndrome	BEFREE	8660975, 8682495		★★★★★ ★☆☆☆☆ Found in Text Mining only
Distal amyotrophy	Distal amyotrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down Syndrome	BEFREE	14744791, 15687366, 8605357		★★★★★ ★☆☆☆☆ Found in Text Mining only
Eczema	Eczema	BEFREE	31616226		★★★★★ ★☆☆☆☆ Found in Text Mining only
Edema	Edema	Pubtator	33596700	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Encephalopathies	Epileptic encephalopathy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
End Stage Liver Disease	End Stage Liver Disease	BEFREE	27676412		★★★★★ ★☆☆☆☆ Found in Text Mining only
Esotropia	Esotropia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Fabry Disease	Fabry disease	Pubtator	10691858, 17018682, 24025420, 24857915, 25500521, 28680061	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Fibromuscular Dysplasia	Fibromuscular Dysplasia	BEFREE	28789849, 31810782		★★★★★ ★☆☆☆☆ Found in Text Mining only
FRONTOMETAPHYSEAL DYSPLASIA 1	Frontometaphyseal Dysplasia	BEFREE	28789849, 31810782		★★★★★ ★☆☆☆☆ Found in Text Mining only
Gastroesophageal reflux disease	Gastroesophageal Reflux Disease	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Gaucher Disease	Gaucher Disease	BEFREE	17482853		★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hb H disease	Hemoglobin H disease	BEFREE	16679924, 8110877, 8781536		★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart Diseases	BEFREE	27251570		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hemoglobin H Disease	Hemoglobin H Disease	BEFREE	11338482, 27241645, 2762043, 8374539, 9074424		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hemoglobinopathies	Hemoglobinopathy	BEFREE	8374539		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hepatic Encephalopathy	Hepatic Encephalopathy	BEFREE	28180928, 29314146, 30188604, 30758786		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hydrocephalus	Hydrocephalus	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hydrops Fetalis	Hydrops Fetalis	BEFREE	11338482, 28381876		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hydrops Fetalis	Hydrops fetalis	Pubtator	25500521	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypogonadism	Hypogonadism	BEFREE	28592815		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoparathyroidism	Hypoparathyroidism	BEFREE	28592815		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoplasia of the optic nerve	Hypoplasia Of The Optic Nerve	BEFREE	23393310		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ichthyosis Lamellar	Lamellar ichthyosis	Pubtator	32720864	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	27856334, 31527857, 32660532	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	31527857		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	BEFREE	27718078, 31009772, 31806593		★★★★★ ★☆☆☆☆ Found in Text Mining only
Islet Cell Tumor	Islet Cell Tumor	BEFREE	9207166		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	38077322	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	11535530, 19428333, 24024897, 30341277, 31022985		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	14695768, 31764818		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	BEFREE	26907736, 27995739, 28445299, 29577605, 30418134, 31764818		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	27723507, 28655658, 29425304		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of kidney	Kidney Cancer	BEFREE	24194959		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	29888201		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	22002027		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	20504220, 27856334, 28174234, 29888201		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	10918198		★★★★★ ★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	31527857	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Moyamoya Disease	Moyamoya Disease	BEFREE	29374799		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mucolipidosis II Alpha Beta	Mucolipidosis	Pubtator	24857915	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Endocrine Neoplasia Type 1	Multiple Endocrine Neoplasia	BEFREE	1684084		★★★★★ ★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy, Facioscapulohumeral	Facioscapulohumeral Muscular Dystrophy	BEFREE	28789849, 31810782		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myasthenias	Myasthenia Gravis	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Myasthenias	Myasthenia Gravis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
MYASTHENIC SYNDROME, CONGENITAL, 23, PRESYNAPTIC	Myasthenic Syndrome	UNIPROT_DG	26870663, 29031613		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
MYASTHENIC SYNDROME, CONGENITAL, 23, PRESYNAPTIC	Myasthenic Syndrome	GENOMICS_ENGLAND_DG	26870663		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
MYASTHENIC SYNDROME, CONGENITAL, 23, PRESYNAPTIC	Myasthenic Syndrome	CLINVAR_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Myasthenic Syndromes Congenital	Myasthenic syndrome	Pubtator	29258548, 31527857, 32660532	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Myasthenic Syndromes, Congenital	Myasthenic Syndrome	BEFREE	29258548, 31527857		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myocardial Infarction	Myocardial Infarction	BEFREE	30826767		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	11437414, 14695768, 14965367, 16097068, 19160106, 20504220, 22002027, 24194959, 24681808, 29888201, 31764818		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	16133534		★★★★★ ★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	11437414, 29651165		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	BEFREE	28368720		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	20181382	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Peripheral Arterial Diseases	Vascular Diseases	BEFREE	27251570		★★★★★ ★☆☆☆☆ Found in Text Mining only
Polyneuropathy, Motor	Polyneuropathy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Presynaptic congenital myasthenic syndromes	Myasthenic Syndrome	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Primary biliary cirrhosis	Biliary Cirrhosis	BEFREE	27995739		★★★★★ ★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	BEFREE	11286628		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Regular astigmatism - corneal	Corneal astigmatism	BEFREE	30868919		★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	24194959		★★★★★ ★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	12476324, 8682495		★★★★★ ★☆☆☆☆ Found in Text Mining only
Scleroderma	Scleroderma	BEFREE	28217959		★★★★★ ★☆☆☆☆ Found in Text Mining only
Seizures	Seizures	Pubtator	29031613	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Senile Plaques	Senile Plaques	BEFREE	12230328		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Septicemia	Septicemia	BEFREE	16107972		★★★★★ ★☆☆☆☆ Found in Text Mining only
Severe intellectual disability	Mental retardation	BEFREE	21660517		★★★★★ ★☆☆☆☆ Found in Text Mining only
Shprintzen syndrome	Shprintzen Syndrome	BEFREE	8660975		★★★★★ ★☆☆☆☆ Found in Text Mining only
Shprintzen-Goldberg syndrome	Shprintzen-Goldberg Syndrome	BEFREE	8660975, 8682495		★★★★★ ★☆☆☆☆ Found in Text Mining only
Skin lesion	Skin Lesion	BEFREE	31616226		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sleep Apnea, Central	Sleep Apnea	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Sleep Apnea, Obstructive	Sleep Apnea	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Spina Bifida	Spina Bifida	BEFREE	17184542		★★★★★ ★☆☆☆☆ Found in Text Mining only
Spina Bifida	Spina Bifida	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Sudden episodic apnea	Sudden episodic apnea	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Systemic Scleroderma	Scleroderma	BEFREE	28217959		★★★★★ ★☆☆☆☆ Found in Text Mining only
Thalassemia	Thalassemia	Pubtator	28945175	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Toxic Shock Syndrome	Toxic Shock Syndrome	BEFREE	23767854, 29247497, 30824769, 7492354		★★★★★ ★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	27397723		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ventricular Septal Defects	Ventricular septal defect	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only

SLC25A1 (solute carrier family 25 member 1)