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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	91137
Gene name	Solute carrier family 25 member 46
Gene symbol	SLC25A46
Synonyms (NCBI Gene)	HMSN6BPCH1E
Chromosome	5
Chromosome location	5q22.1
Summary	This gene encodes a mitochondrial solute carrier protein family member. It functions in promoting mitochondrial fission, and prevents the formation of hyperfilamentous mitochondria. Mutation of this gene results in neuropathy and optic atrophy. [provided

Show/Hide all (17)

SNP ID	Visualize variation	Clinical significance	Consequence
rs149585060	A>C	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant, intron variant, non coding transcript variant
rs200725073	G>A,T	Pathogenic	Intron variant, missense variant, coding sequence variant, non coding transcript variant
rs202123515	C>A,T	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, non coding transcript variant
rs746681765	C>A,T	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs751900293	C>T	Uncertain-significance, likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant, intron variant
rs1057518748	A>T	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs1057518749	->TTAC	Pathogenic	Frameshift variant, coding sequence variant, intron variant, non coding transcript variant
rs1057518750	C>T	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs1057519294	T>C	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs1057519295	T>G	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs1057519296	C>T	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs1184021143	G>A	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant, intron variant
rs1390567933	G>C	Likely-pathogenic, uncertain-significance	Non coding transcript variant, missense variant, coding sequence variant
rs1554093168	A>T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, intron variant, stop gained
rs1580858058	CTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCATCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCGCCCGCCTCAGCCTCCCAAAGTGGTGGGATTACAG>-	Likely-pathogenic	Intron variant
rs1580870705	C>T	Likely-pathogenic	Missense variant, intron variant, coding sequence variant, non coding transcript variant
rs1580870952	T>C	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant

228

Show/Hide all (228)

miRTarBase ID	miRNA	Experiments	Reference
MIRT027893	hsa-miR-96-5p	Sequencing	20371350
MIRT037734	hsa-miR-744-5p	CLASH	23622248
MIRT646632	hsa-miR-590-3p	HITS-CLIP	23824327
MIRT646631	hsa-miR-2355-5p	HITS-CLIP	23824327
MIRT646629	hsa-miR-6875-3p	HITS-CLIP	23824327
MIRT646630	hsa-miR-4659a-3p	HITS-CLIP	23824327
MIRT646628	hsa-miR-4659b-3p	HITS-CLIP	23824327
MIRT544501	hsa-miR-618	PAR-CLIP	21572407
MIRT544500	hsa-miR-495-5p	PAR-CLIP	21572407
MIRT544499	hsa-miR-382-5p	PAR-CLIP	21572407
MIRT544498	hsa-miR-4712-3p	PAR-CLIP	21572407
MIRT544497	hsa-miR-539-5p	PAR-CLIP	21572407
MIRT544496	hsa-miR-621	PAR-CLIP	21572407
MIRT544495	hsa-miR-449c-3p	PAR-CLIP	21572407
MIRT544494	hsa-miR-568	PAR-CLIP	21572407
MIRT542068	hsa-miR-3609	PAR-CLIP	21572407
MIRT542067	hsa-miR-548ah-5p	PAR-CLIP	21572407
MIRT542066	hsa-miR-106a-5p	PAR-CLIP	21572407
MIRT542065	hsa-miR-106b-5p	PAR-CLIP	21572407
MIRT542064	hsa-miR-17-5p	PAR-CLIP	21572407
MIRT542063	hsa-miR-20a-5p	PAR-CLIP	21572407
MIRT542062	hsa-miR-20b-5p	PAR-CLIP	21572407
MIRT542061	hsa-miR-519d-3p	PAR-CLIP	21572407
MIRT542060	hsa-miR-526b-3p	PAR-CLIP	21572407
MIRT542059	hsa-miR-93-5p	PAR-CLIP	21572407
MIRT542058	hsa-miR-4796-3p	PAR-CLIP	21572407
MIRT542057	hsa-miR-495-3p	PAR-CLIP	21572407
MIRT542056	hsa-miR-5688	PAR-CLIP	21572407
MIRT542055	hsa-miR-7-1-3p	PAR-CLIP	21572407
MIRT542054	hsa-miR-7-2-3p	PAR-CLIP	21572407
MIRT542053	hsa-miR-142-5p	PAR-CLIP	21572407
MIRT542052	hsa-miR-5590-3p	PAR-CLIP	21572407
MIRT542051	hsa-miR-95-5p	PAR-CLIP	21572407
MIRT542050	hsa-miR-4705	PAR-CLIP	21572407
MIRT542049	hsa-miR-4328	PAR-CLIP	21572407
MIRT542048	hsa-miR-1251-3p	PAR-CLIP	21572407
MIRT542047	hsa-miR-1257	PAR-CLIP	21572407
MIRT542046	hsa-miR-3944-5p	PAR-CLIP	21572407
MIRT542045	hsa-miR-143-5p	PAR-CLIP	21572407
MIRT542044	hsa-miR-302c-5p	PAR-CLIP	21572407
MIRT542043	hsa-miR-552-5p	PAR-CLIP	21572407
MIRT542042	hsa-miR-2113	PAR-CLIP	21572407
MIRT646632	hsa-miR-590-3p	HITS-CLIP	23824327
MIRT646631	hsa-miR-2355-5p	HITS-CLIP	23824327
MIRT646629	hsa-miR-6875-3p	HITS-CLIP	23824327
MIRT646630	hsa-miR-4659a-3p	HITS-CLIP	23824327
MIRT646628	hsa-miR-4659b-3p	HITS-CLIP	23824327
MIRT544501	hsa-miR-618	PAR-CLIP	21572407
MIRT544500	hsa-miR-495-5p	PAR-CLIP	21572407
MIRT544499	hsa-miR-382-5p	PAR-CLIP	21572407
MIRT544498	hsa-miR-4712-3p	PAR-CLIP	21572407
MIRT544497	hsa-miR-539-5p	PAR-CLIP	21572407
MIRT544496	hsa-miR-621	PAR-CLIP	21572407
MIRT544495	hsa-miR-449c-3p	PAR-CLIP	21572407
MIRT544494	hsa-miR-568	PAR-CLIP	21572407
MIRT542068	hsa-miR-3609	PAR-CLIP	21572407
MIRT542067	hsa-miR-548ah-5p	PAR-CLIP	21572407
MIRT542066	hsa-miR-106a-5p	PAR-CLIP	21572407
MIRT542065	hsa-miR-106b-5p	PAR-CLIP	21572407
MIRT542064	hsa-miR-17-5p	PAR-CLIP	21572407
MIRT542063	hsa-miR-20a-5p	PAR-CLIP	21572407
MIRT542062	hsa-miR-20b-5p	PAR-CLIP	21572407
MIRT542061	hsa-miR-519d-3p	PAR-CLIP	21572407
MIRT542060	hsa-miR-526b-3p	PAR-CLIP	21572407
MIRT542059	hsa-miR-93-5p	PAR-CLIP	21572407
MIRT542058	hsa-miR-4796-3p	PAR-CLIP	21572407
MIRT542057	hsa-miR-495-3p	PAR-CLIP	21572407
MIRT542056	hsa-miR-5688	PAR-CLIP	21572407
MIRT542055	hsa-miR-7-1-3p	PAR-CLIP	21572407
MIRT542054	hsa-miR-7-2-3p	PAR-CLIP	21572407
MIRT542053	hsa-miR-142-5p	PAR-CLIP	21572407
MIRT542052	hsa-miR-5590-3p	PAR-CLIP	21572407
MIRT542051	hsa-miR-95-5p	PAR-CLIP	21572407
MIRT542050	hsa-miR-4705	PAR-CLIP	21572407
MIRT542049	hsa-miR-4328	PAR-CLIP	21572407
MIRT542048	hsa-miR-1251-3p	PAR-CLIP	21572407
MIRT542047	hsa-miR-1257	PAR-CLIP	21572407
MIRT542046	hsa-miR-3944-5p	PAR-CLIP	21572407
MIRT542045	hsa-miR-143-5p	PAR-CLIP	21572407
MIRT542044	hsa-miR-302c-5p	PAR-CLIP	21572407
MIRT542043	hsa-miR-552-5p	PAR-CLIP	21572407
MIRT542042	hsa-miR-2113	PAR-CLIP	21572407
MIRT1357323	hsa-miR-1238	CLIP-seq
MIRT1357324	hsa-miR-1261	CLIP-seq
MIRT1357325	hsa-miR-1265	CLIP-seq
MIRT1357326	hsa-miR-1324	CLIP-seq
MIRT1357327	hsa-miR-141	CLIP-seq
MIRT1357328	hsa-miR-200a	CLIP-seq
MIRT1357329	hsa-miR-3183	CLIP-seq
MIRT1357330	hsa-miR-3190	CLIP-seq
MIRT1357331	hsa-miR-3201	CLIP-seq
MIRT1357332	hsa-miR-4261	CLIP-seq
MIRT1357333	hsa-miR-4330	CLIP-seq
MIRT1357334	hsa-miR-4491	CLIP-seq
MIRT1357335	hsa-miR-4657	CLIP-seq
MIRT1357336	hsa-miR-4723-3p	CLIP-seq
MIRT1357337	hsa-miR-4729	CLIP-seq
MIRT1357338	hsa-miR-4731-3p	CLIP-seq
MIRT1357339	hsa-miR-4791	CLIP-seq
MIRT1357340	hsa-miR-4801	CLIP-seq
MIRT1357341	hsa-miR-494	CLIP-seq
MIRT1357342	hsa-miR-498	CLIP-seq
MIRT1357343	hsa-miR-518a-3p	CLIP-seq
MIRT1357344	hsa-miR-518b	CLIP-seq
MIRT1357345	hsa-miR-518c	CLIP-seq
MIRT1357346	hsa-miR-518d-3p	CLIP-seq
MIRT1357347	hsa-miR-518f	CLIP-seq
MIRT1357348	hsa-miR-579	CLIP-seq
MIRT1357349	hsa-miR-629	CLIP-seq
MIRT1553742	hsa-miR-376c	CLIP-seq
MIRT1357324	hsa-miR-1261	CLIP-seq
MIRT1357327	hsa-miR-141	CLIP-seq
MIRT1357328	hsa-miR-200a	CLIP-seq
MIRT1357331	hsa-miR-3201	CLIP-seq
MIRT2105831	hsa-miR-3651	CLIP-seq
MIRT1553742	hsa-miR-376c	CLIP-seq
MIRT2105832	hsa-miR-4662a-3p	CLIP-seq
MIRT1357339	hsa-miR-4791	CLIP-seq
MIRT1357341	hsa-miR-494	CLIP-seq
MIRT1357349	hsa-miR-629	CLIP-seq
MIRT1357324	hsa-miR-1261	CLIP-seq
MIRT1357327	hsa-miR-141	CLIP-seq
MIRT1357328	hsa-miR-200a	CLIP-seq
MIRT1357331	hsa-miR-3201	CLIP-seq
MIRT2330302	hsa-miR-377	CLIP-seq
MIRT2330303	hsa-miR-382	CLIP-seq
MIRT2330304	hsa-miR-4690-3p	CLIP-seq
MIRT1357339	hsa-miR-4791	CLIP-seq
MIRT1357341	hsa-miR-494	CLIP-seq
MIRT2330305	hsa-miR-548ac	CLIP-seq
MIRT2330306	hsa-miR-548ae	CLIP-seq
MIRT2330307	hsa-miR-548aj	CLIP-seq
MIRT2330308	hsa-miR-548am	CLIP-seq
MIRT2330309	hsa-miR-548d-3p	CLIP-seq
MIRT2330310	hsa-miR-548x	CLIP-seq
MIRT2330311	hsa-miR-548z	CLIP-seq
MIRT1357349	hsa-miR-629	CLIP-seq
MIRT1357324	hsa-miR-1261	CLIP-seq
MIRT1357327	hsa-miR-141	CLIP-seq
MIRT1357328	hsa-miR-200a	CLIP-seq
MIRT1357331	hsa-miR-3201	CLIP-seq
MIRT1357337	hsa-miR-4729	CLIP-seq
MIRT1357338	hsa-miR-4731-3p	CLIP-seq
MIRT1357339	hsa-miR-4791	CLIP-seq
MIRT1357340	hsa-miR-4801	CLIP-seq
MIRT1357341	hsa-miR-494	CLIP-seq
MIRT1357349	hsa-miR-629	CLIP-seq
MIRT2624356	hsa-miR-1225-5p	CLIP-seq
MIRT1357324	hsa-miR-1261	CLIP-seq
MIRT1357325	hsa-miR-1265	CLIP-seq
MIRT1357327	hsa-miR-141	CLIP-seq
MIRT2624357	hsa-miR-18a	CLIP-seq
MIRT2624358	hsa-miR-18b	CLIP-seq
MIRT1357328	hsa-miR-200a	CLIP-seq
MIRT2624359	hsa-miR-3145-3p	CLIP-seq
MIRT2624360	hsa-miR-3164	CLIP-seq
MIRT2624361	hsa-miR-3200-3p	CLIP-seq
MIRT1357331	hsa-miR-3201	CLIP-seq
MIRT2624362	hsa-miR-330-3p	CLIP-seq
MIRT2624363	hsa-miR-345	CLIP-seq
MIRT2330302	hsa-miR-377	CLIP-seq
MIRT2624364	hsa-miR-3921	CLIP-seq
MIRT2624365	hsa-miR-4653-5p	CLIP-seq
MIRT2624366	hsa-miR-4720-3p	CLIP-seq
MIRT2624367	hsa-miR-4735-3p	CLIP-seq
MIRT1357339	hsa-miR-4791	CLIP-seq
MIRT2624368	hsa-miR-4804-3p	CLIP-seq
MIRT2624369	hsa-miR-491-3p	CLIP-seq
MIRT1357341	hsa-miR-494	CLIP-seq
MIRT1357342	hsa-miR-498	CLIP-seq
MIRT1357343	hsa-miR-518a-3p	CLIP-seq
MIRT1357344	hsa-miR-518b	CLIP-seq
MIRT1357345	hsa-miR-518c	CLIP-seq
MIRT1357346	hsa-miR-518d-3p	CLIP-seq
MIRT1357347	hsa-miR-518f	CLIP-seq
MIRT2624370	hsa-miR-539	CLIP-seq
MIRT2330305	hsa-miR-548ac	CLIP-seq
MIRT2330306	hsa-miR-548ae	CLIP-seq
MIRT2624371	hsa-miR-548ag	CLIP-seq
MIRT2624372	hsa-miR-548ai	CLIP-seq
MIRT2330307	hsa-miR-548aj	CLIP-seq
MIRT2330308	hsa-miR-548am	CLIP-seq
MIRT2330309	hsa-miR-548d-3p	CLIP-seq
MIRT2624373	hsa-miR-548m	CLIP-seq
MIRT2624374	hsa-miR-548p	CLIP-seq
MIRT2330310	hsa-miR-548x	CLIP-seq
MIRT2330311	hsa-miR-548z	CLIP-seq
MIRT2624375	hsa-miR-593	CLIP-seq
MIRT1357349	hsa-miR-629	CLIP-seq
MIRT2624376	hsa-miR-643	CLIP-seq
MIRT2624356	hsa-miR-1225-5p	CLIP-seq
MIRT1357324	hsa-miR-1261	CLIP-seq
MIRT1357325	hsa-miR-1265	CLIP-seq
MIRT1357327	hsa-miR-141	CLIP-seq
MIRT2624357	hsa-miR-18a	CLIP-seq
MIRT2624358	hsa-miR-18b	CLIP-seq
MIRT1357328	hsa-miR-200a	CLIP-seq
MIRT2624359	hsa-miR-3145-3p	CLIP-seq
MIRT2624360	hsa-miR-3164	CLIP-seq
MIRT2691029	hsa-miR-3171	CLIP-seq
MIRT2624361	hsa-miR-3200-3p	CLIP-seq
MIRT1357331	hsa-miR-3201	CLIP-seq
MIRT2624362	hsa-miR-330-3p	CLIP-seq
MIRT2624363	hsa-miR-345	CLIP-seq
MIRT2330302	hsa-miR-377	CLIP-seq
MIRT2624364	hsa-miR-3921	CLIP-seq
MIRT2691030	hsa-miR-4280	CLIP-seq
MIRT2624365	hsa-miR-4653-5p	CLIP-seq
MIRT2624366	hsa-miR-4720-3p	CLIP-seq
MIRT2624367	hsa-miR-4735-3p	CLIP-seq
MIRT1357339	hsa-miR-4791	CLIP-seq
MIRT2624368	hsa-miR-4804-3p	CLIP-seq
MIRT2624369	hsa-miR-491-3p	CLIP-seq
MIRT1357341	hsa-miR-494	CLIP-seq
MIRT1357342	hsa-miR-498	CLIP-seq
MIRT1357343	hsa-miR-518a-3p	CLIP-seq
MIRT1357344	hsa-miR-518b	CLIP-seq
MIRT1357345	hsa-miR-518c	CLIP-seq
MIRT1357346	hsa-miR-518d-3p	CLIP-seq
MIRT1357347	hsa-miR-518f	CLIP-seq
MIRT2624371	hsa-miR-548ag	CLIP-seq
MIRT2624372	hsa-miR-548ai	CLIP-seq
MIRT2624373	hsa-miR-548m	CLIP-seq
MIRT2624374	hsa-miR-548p	CLIP-seq
MIRT2624375	hsa-miR-593	CLIP-seq
MIRT2691031	hsa-miR-595	CLIP-seq
MIRT1357349	hsa-miR-629	CLIP-seq
MIRT2624376	hsa-miR-643	CLIP-seq

Show/Hide all (32)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000266	Process	Mitochondrial fission	IBA
GO:0000266	Process	Mitochondrial fission	IDA	26168012
GO:0000266	Process	Mitochondrial fission	IMP	27390132
GO:0000266	Process	Mitochondrial fission	IMP	27543974
GO:0000422	Process	Autophagy of mitochondrion	IEA
GO:0005515	Function	Protein binding	IPI	25416956, 26168012, 32296183
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IDA
GO:0005739	Component	Mitochondrion	IEA
GO:0005741	Component	Mitochondrial outer membrane	IBA
GO:0005741	Component	Mitochondrial outer membrane	IDA	26168012
GO:0005741	Component	Mitochondrial outer membrane	IEA
GO:0005741	Component	Mitochondrial outer membrane	IMP	27390132, 27543974
GO:0006839	Process	Mitochondrial transport	IEA
GO:0007005	Process	Mitochondrion organization	IEA
GO:0007005	Process	Mitochondrion organization	IEA
GO:0007416	Process	Synapse assembly	IEA
GO:0008535	Process	Respiratory chain complex IV assembly	IMP	27390132
GO:0016020	Component	Membrane	IEA
GO:0016358	Process	Dendrite development	IEA
GO:0021554	Process	Optic nerve development	IEA
GO:0021702	Process	Cerebellar Purkinje cell differentiation	IEA
GO:0022011	Process	Myelination in peripheral nervous system	IEA
GO:0031987	Process	Locomotion involved in locomotory behavior	IEA
GO:0042407	Process	Cristae formation	IMP	27390132
GO:0044877	Function	Protein-containing complex binding	IDA	27390132
GO:0048936	Process	Peripheral nervous system neuron axonogenesis	IEA
GO:0051649	Process	Establishment of localization in cell	IEA
GO:0055091	Process	Phospholipid homeostasis	IMP	27390132
GO:0061564	Process	Axon development	IBA
GO:0065003	Process	Protein-containing complex assembly	IMP	27390132
GO:0090149	Process	Mitochondrial membrane fission	IEA

MIM	HGNC	e!Ensembl
610826	25198	ENSG00000164209

Q96AG3

Protein name

Mitochondrial outer membrane protein SLC25A46 (Solute carrier family 25 member 46)

Protein function

Transmembrane protein of the mitochondrial outer membrane that controls mitochondrial organization (PubMed:26168012, PubMed:27390132, PubMed:27543974). May regulate the assembly of the MICOS (mitochondrial contact site and cristae organizing sys

PDB

8TMU

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00153	Mito_carr	311 → 417	Mitochondrial carrier protein	Family

Sequence

MHPRRPDGFDGLGYRGGARDEQGFGGAFPARSFSTGSDLGHWVTTPPDIPGSRNLHWGEK
SPPYGVPTTSTPYEGPTEEPFSSGGGGSVQGQSSEQLNRFAGFGIGLASLFTENVLAHPC
IVLRRQCQVNYHAQHYHLTPFTVINIMYSFNKTQGPRALWKGMGSTFIVQGVTLGAEGII
SEFTPLPREVLHKWSPKQIGEHLLLKSLTYVVAMPFYSASLIETVQSEIIRDNTGILECV
KEGIGRVIGMGVPHSKRLLPLLSLIFPTVLHGVLHYIISSVIQKFVLLILKRKTYNSHLA
ESTSPVQSMLDAYFPELIANFAASLCSDVILYPLETVLHRLHIQGTRTIIDNTDLGYEVL
PINTQYEGMRDCINTIRQEEGVFGFYKGFGAVIIQYTLHAAVLQITKIIYSTLLQNNI

Sequence length

418

Interactions

View interactions

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 (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Neuropathy, hereditary motor and sensory, type 6B	Pathogenic; Likely pathogenic	rs530045841, rs1561602892, rs1371249361, rs1799815535, rs2547519976, rs2547522906, rs2547528702, rs1278362025, rs1171977270, rs1057519416, rs1057518748, rs746681765, rs1057519295, rs1064795772, rs1554093168 View all (6 more)	RCV001377788 RCV001814770 RCV001937094 RCV001968984 RCV003152355 View all (17 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Pontocerebellar hypoplasia, type 1E	Pathogenic; Likely pathogenic	rs751101419, rs771761288, rs1561602892, rs1057518749, rs1057518750, rs746681765, rs1057519294, rs1057519296, rs1064795772, rs1554093168, rs1799819389	RCV001380421 RCV001380424 RCV001814770 RCV000412554 RCV000412634 View all (6 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
SLC25A46-associated optic atrophy spectrum disorder	Likely pathogenic	rs1580858058	RCV000791292	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (27)

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.
Adrenocortical carcinoma, hereditary	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ASTHMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ASTROCYTOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATOPIC ASTHMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATOPIC ECZEMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Charcot-Marie-Tooth disease	Uncertain significance	ClinVar CTD, Disgenet CTD, Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
CHILDHOOD ONSET ASTHMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL PONTOCEREBELLAR HYPOPLASIA TYPE 1	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEREDITARY MOTOR AND SENSORY NEUROPATHY TYPE 6	—	Disgenet, Orphanet Disgenet, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEREDITARY MOTOR AND SENSORY NEUROPATHY WITH OPTIC ATROPHY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual disability	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEIGH SYNDROME	—	ClinGen, GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB, WITH OPTIC ATROPHY	—	CTD, HPO CTD, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Optic atrophy	Uncertain significance	ClinVar CTD, Disgenet CTD, Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Ovarian serous cystadenocarcinoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PONTOCEREBELLAR HYPOPLASIA TYPE 1	—	GenCC, Orphanet GenCC, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RESPIRATORY SYSTEM DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Retinal dystrophy	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RETINITIS PIGMENTOSA 1	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEASONAL ALLERGIC RHINITIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SLC25A46-related disorder	Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spastic ataxia	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)

Show/Hide Text Mining Associations (47)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Alzheimer Disease	Alzheimer disease	Pubtator	33878365	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ataxia	Ataxia	Pubtator	30178502	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebellar Ataxia	Cerebellar ataxia	Pubtator	28558379	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebellar Diseases	Cerebellar diseases	Pubtator	33985528	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Charcot-Marie-Tooth Disease	Charcot-Marie-Tooth Disease	CTD_human_DG	26168012		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Charcot-Marie-Tooth Disease, Type Ia (disorder)	Charcot-Marie-Tooth disease	CTD_human_DG	26168012		★★★★★ ★☆☆☆☆ Found in Text Mining only
Charcot-Marie-Tooth Disease, Type Ib	Charcot-Marie-Tooth disease	CTD_human_DG	26168012		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital pontocerebellar hypoplasia	Pontoneocerebellar hypoplasia	BEFREE	27543974, 28376086, 28653766		★★★★★ ★☆☆☆☆ Found in Text Mining only
Exotropia	Exotropia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Eye Abnormalities	Eye abnormalities	Pubtator	28558379	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	BEFREE	29656927		★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary motor and sensory neuropathy type 6	Hereditary Motor And Sensory Neuropathy	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary Motor and Sensory Neuropathy Type I	Hereditary motor and sensory neuropathy	CTD_human_DG	26168012		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary motor and sensory neuropathy with optic atrophy (disorder)	Hereditary Motor And Sensory Neuropathy With Optic Atrophy	ORPHANET_DG	26168012		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary motor and sensory neuropathy with optic atrophy (disorder)	Hereditary Motor And Sensory Neuropathy With Optic Atrophy	BEFREE	28653766		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary Motor and Sensory-Neuropathy Type II	Dysautonomia	CTD_human_DG	26168012		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary Motor and Sensory-Neuropathy Type II	Dysautonomia	BEFREE	29604258, 31614134		★★★★★ ★☆☆☆☆ Found in Text Mining only
Left Ventricular Hypertrophy	Left Ventricular Hypertrophy	BEFREE	23879873		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leigh Disease	Leigh Syndrome	BEFREE	27390132, 29604258, 31614134		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leigh Disease	Leigh syndrome	Pubtator	27390132	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	27390132, 33985528	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial Diseases	BEFREE	29604258, 31614134		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	27390132, 30178502, 36977595	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	27390132, 30178502		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuropathy	Neuropathy	BEFREE	28934388		★★★★★ ★☆☆☆☆ Found in Text Mining only
NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB	Neuropathy	UNIPROT_DG	26168012		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB	Neuropathy	GENOMICS_ENGLAND_DG	26168012, 28369803		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB	Neuropathy	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB	Neuropathy	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nystagmus	Nystagmus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Nystagmus Pathologic	Nystagmus	Pubtator	28558379	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	BEFREE	26168012, 28376086, 29604258, 30178502		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Optic Atrophy	Optic Atrophy	CTD_human_DG	26168012		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Optic Atrophy	Optic atrophy	Pubtator	28558379, 30178502, 32259769, 33985528	Associate	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Optic Atrophy	Optic Atrophy	HPO_DG			★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Optic Atrophy	Optic Atrophy	CLINVAR_DG			★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Parkinson Disease	Parkinson disease	Pubtator	32259769	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinson Disease Secondary	Secondary parkinson disease	Pubtator	32259769	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Nervous System Diseases	BEFREE	27543974		★★★★★ ★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Peripheral nervous system disease	Pubtator	30178502, 32259769	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Peripheral Neuropathy	Peripheral Neuropathy	BEFREE	27543974		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pontocerebellar Hypoplasia	Pontocerebellar hypoplasia	Pubtator	32259769, 35012485	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pontoneocerebellar hypoplasia	Pontoneocerebellar hypoplasia	BEFREE	27543974, 28653766		★★★★★ ★☆☆☆☆ Found in Text Mining only
Roussy-Levy Syndrome (disorder)	Roussy-Levy Syndrome	CTD_human_DG	26168012		★★★★★ ★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Spinal Muscular Atrophy	Spinal Muscular Atrophy	BEFREE	29656927		★★★★★ ★☆☆☆☆ Found in Text Mining only

SLC25A46 (solute carrier family 25 member 46)