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

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	91137
Gene name Gene Name - the full gene name approved by the HGNC.	Solute carrier family 25 member 46
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	SLC25A46
Synonyms (NCBI Gene) Gene synonyms aliases	HMSN6B, PCH1E
Disease Acronyms (UniProt) Disease acronyms from UniProt database	HMSN6B, PCH1E
Chromosome Chromosome number	5
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	5q22.1
Summary Summary of gene provided in NCBI Entrez Gene.	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

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(5)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	25416956, 26168012, 32296183
GO:0005739	Component	Mitochondrion	IDA
GO:0005741	Component	Mitochondrial outer membrane	IDA	26168012
GO:0016021	Component	Integral component of membrane	IEA
GO:0090149	Process	Mitochondrial membrane fission	IDA	26168012

MIM	HGNC	e!Ensembl
610826	25198	ENSG00000164209

Protein

UniProt ID

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

Show/Hide Causal Diseases (9)

Disease term	Disease name	dbSNP ID	References
Causal
Charcot-marie-tooth disease	Charcot-Marie-Tooth Disease, Charcot-Marie-Tooth Disease, Type Ia (disorder), Charcot-Marie-Tooth Disease, Type Ib	rs137852739, rs137852737, rs118203972, rs118203974, rs267607183, rs267606878, rs121908287, rs1562648373, rs121908288, rs1368013631, rs28940291, rs28940292, rs28940293, rs28940294, rs28940295 View all (1137 more)	26168012
Developmental delay	Global developmental delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291 View all (32 more)
Dysautonomia	Hereditary Motor and Sensory-Neuropathy Type II	rs111033171, rs137853022, rs28939712, rs754348901, rs749052963, rs1057517169, rs1057516865, rs763445509, rs767527819, rs781333644, rs1239081703, rs1554696574, rs539544212, rs1201626345, rs774890086 View all (27 more)	26168012
Hereditary motor and sensory neuropathy	Hereditary Motor and Sensory Neuropathy Type I, Hereditary motor and sensory neuropathy type 6	rs1555365597, rs387906941, rs207482230, rs587778791, rs587778798, rs587777108, rs587780564, rs587777789, rs1566733927	26168012
Hereditary motor and sensory neuropathy with optic atrophy	Hereditary motor and sensory neuropathy with optic atrophy (disorder)	rs119103263, rs119103265, rs119103266, rs119103268, rs387906991, rs863224967, rs1057517987, rs864622480, rs1553145402	26168012
Neuropathy	NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB	rs121913593, rs121913595, rs751050956, rs878853221, rs768554986, rs1553259568, rs1567973091, rs1560046845, rs1567969825, rs1567973088, rs756896276	26168012, 28369803
Nystagmus	Nystagmus	rs137852207, rs137852208, rs1928435502, rs137852209, rs137852210, rs1929191668, rs137852211, rs137852212, rs2124209414, rs387906720, rs387906721, rs1602791884, rs786205896
Optic atrophy	Optic Atrophy	rs121434508, rs267607017, rs80356524, rs80356525, rs879255560, rs104893753, rs80356529, rs397515360, rs104893620, rs199476104, rs199476112, rs199476118, rs398124298, rs770066665, rs398124299 View all (37 more)	26168012
Scoliosis	Scoliosis, unspecified	rs1057518828, rs147296805, rs758163506, rs1555613564, rs1596852902, rs1596853067, rs1596853085

Show/Hide Unknown Diseases (8)

Disease term	Disease name	Source
Unknown
Cerebellar Hypoplasia	pontocerebellar hypoplasia, type 1E	GenCC
Leigh Syndrome	Leigh syndrome	GenCC
Pontoneocerebellar hypoplasia	pontocerebellar hypoplasia type 1	GenCC
Hereditary Motor And Sensory Neuropathy	hereditary motor and sensory neuropathy type 6	GenCC
Eczema	Eczema	GWAS
Asthma	Asthma	GWAS
Allergic Sensitization	Allergic Sensitization	GWAS
Dermatitis	Dermatitis	GWAS

Show/Hide Text Mining Associations (17)

Disease Name	Relationship Type	References
Associations from Text Mining
Alzheimer Disease	Associate	33878365
Ataxia	Associate	30178502
Cerebellar Ataxia	Associate	28558379
Cerebellar Diseases	Associate	33985528
Charcot Marie Tooth disease X linked recessive 2	Associate	28558379
Eye Abnormalities	Associate	28558379
Fused Kidney	Associate	33985528
Leigh Disease	Associate	27390132
Mitochondrial Diseases	Associate	27390132, 33985528
Neurodegenerative Diseases	Associate	27390132, 30178502, 36977595
Nystagmus Pathologic	Associate	28558379
Optic Atrophy	Associate	28558379, 30178502, 32259769, 33985528
Parkinson Disease	Associate	32259769
Parkinson Disease Secondary	Associate	32259769
Peripheral Nervous System Diseases	Associate	30178502, 32259769
Pontocerebellar Hypoplasia	Associate	32259769, 35012485
Speech Disorders	Associate	28558379

SLC25A46 (solute carrier family 25 member 46)