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	23479
Gene name	Iron-sulfur cluster assembly enzyme
Gene symbol	ISCU
Synonyms (NCBI Gene)	2310020H20RikHMLISU2NIFUNIFUNhnifU
Chromosome	12
Chromosome location	12q23.3
Summary	This gene encodes a component of the iron-sulfur (Fe-S) cluster scaffold. Fe-S clusters are cofactors that play a role in the function of a diverse set of enzymes, including those that regulate metabolism, iron homeostasis, and oxidative stress response.

Show/Hide all (2)

SNP ID	Visualize variation	Clinical significance	Consequence
rs267607190	G>A,C	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs767000507	G>C	Pathogenic	Intron variant

213

Show/Hide all (213)

miRTarBase ID	miRNA	Experiments	Reference
MIRT003163	hsa-miR-210-3p	immunoprecipitaionMicroarrayqRT-PCR	19826008
MIRT003163	hsa-miR-210-3p	Luciferase reporter assayqRT-PCRWestern blot	19808020
MIRT005717	hsa-miR-21-5p	ImmunoblotImmunohistochemistryLuciferase reporter assayqRT-PCRWestern blot	20480266
MIRT005717	hsa-miR-21-5p	ImmunoblotImmunohistochemistryLuciferase reporter assayqRT-PCRWestern blot	20480266
MIRT003163	hsa-miR-210-3p	Luciferase reporter assayWestern blot	21801864
MIRT003163	hsa-miR-210-3p	CLASH	23622248
MIRT003163	hsa-miR-210-3p	qRT-PCR	22840297
MIRT003163	hsa-miR-210-3p	HITS-CLIP	22473208
MIRT003163	hsa-miR-210-3p	HITS-CLIP	22473208
MIRT003163	hsa-miR-210-3p	PAR-CLIP	27292025
MIRT003163	hsa-miR-210-3p	PAR-CLIP	27292025
MIRT1072553	hsa-miR-1207-3p	CLIP-seq
MIRT1072554	hsa-miR-1273e	CLIP-seq
MIRT1072555	hsa-miR-1287	CLIP-seq
MIRT1072556	hsa-miR-1323	CLIP-seq
MIRT1072557	hsa-miR-134	CLIP-seq
MIRT1072558	hsa-miR-138	CLIP-seq
MIRT1072559	hsa-miR-185	CLIP-seq
MIRT1072560	hsa-miR-18a	CLIP-seq
MIRT1072561	hsa-miR-18b	CLIP-seq
MIRT1072562	hsa-miR-210	CLIP-seq
MIRT1072563	hsa-miR-214	CLIP-seq
MIRT1072564	hsa-miR-3120-3p	CLIP-seq
MIRT1072565	hsa-miR-3135b	CLIP-seq
MIRT1072566	hsa-miR-3153	CLIP-seq
MIRT1072567	hsa-miR-3188	CLIP-seq
MIRT1072568	hsa-miR-329	CLIP-seq
MIRT1072569	hsa-miR-3612	CLIP-seq
MIRT1072570	hsa-miR-3619-5p	CLIP-seq
MIRT1072571	hsa-miR-362-3p	CLIP-seq
MIRT1072572	hsa-miR-3650	CLIP-seq
MIRT1072573	hsa-miR-3665	CLIP-seq
MIRT1072574	hsa-miR-3671	CLIP-seq
MIRT1072575	hsa-miR-3679-3p	CLIP-seq
MIRT1072576	hsa-miR-370	CLIP-seq
MIRT1072577	hsa-miR-3910	CLIP-seq
MIRT1072578	hsa-miR-3941	CLIP-seq
MIRT1072579	hsa-miR-4261	CLIP-seq
MIRT1072580	hsa-miR-4277	CLIP-seq
MIRT1072581	hsa-miR-4303	CLIP-seq
MIRT1072582	hsa-miR-4325	CLIP-seq
MIRT1072583	hsa-miR-4327	CLIP-seq
MIRT1072584	hsa-miR-4443	CLIP-seq
MIRT1072585	hsa-miR-4490	CLIP-seq
MIRT1072586	hsa-miR-4528	CLIP-seq
MIRT1072587	hsa-miR-4649-3p	CLIP-seq
MIRT1072588	hsa-miR-4668-5p	CLIP-seq
MIRT1072589	hsa-miR-4693-3p	CLIP-seq
MIRT1072590	hsa-miR-4698	CLIP-seq
MIRT1072591	hsa-miR-4712-3p	CLIP-seq
MIRT1072592	hsa-miR-485-3p	CLIP-seq
MIRT1072593	hsa-miR-491-3p	CLIP-seq
MIRT1072594	hsa-miR-501-3p	CLIP-seq
MIRT1072595	hsa-miR-502-3p	CLIP-seq
MIRT1072596	hsa-miR-548o	CLIP-seq
MIRT1072597	hsa-miR-603	CLIP-seq
MIRT1072598	hsa-miR-644	CLIP-seq
MIRT1072599	hsa-miR-650	CLIP-seq
MIRT1072600	hsa-miR-659	CLIP-seq
MIRT1072601	hsa-miR-663b	CLIP-seq
MIRT1072602	hsa-miR-761	CLIP-seq
MIRT1072603	hsa-miR-891b	CLIP-seq
MIRT1550211	hsa-miR-140-3p	CLIP-seq
MIRT1550212	hsa-miR-154	CLIP-seq
MIRT1550213	hsa-miR-1587	CLIP-seq
MIRT1072559	hsa-miR-185	CLIP-seq
MIRT1072560	hsa-miR-18a	CLIP-seq
MIRT1072561	hsa-miR-18b	CLIP-seq
MIRT1550214	hsa-miR-4417	CLIP-seq
MIRT1550215	hsa-miR-4492	CLIP-seq
MIRT1550216	hsa-miR-4498	CLIP-seq
MIRT1550217	hsa-miR-4656	CLIP-seq
MIRT1550218	hsa-miR-4675	CLIP-seq
MIRT1550219	hsa-miR-4741	CLIP-seq
MIRT1550220	hsa-miR-4766-5p	CLIP-seq
MIRT1550221	hsa-miR-4796-3p	CLIP-seq
MIRT1550222	hsa-miR-524-3p	CLIP-seq
MIRT1550223	hsa-miR-525-3p	CLIP-seq
MIRT1550224	hsa-miR-548n	CLIP-seq
MIRT1550225	hsa-miR-548t	CLIP-seq
MIRT1550226	hsa-miR-762	CLIP-seq
MIRT1072559	hsa-miR-185	CLIP-seq
MIRT1072562	hsa-miR-210	CLIP-seq
MIRT1072564	hsa-miR-3120-3p	CLIP-seq
MIRT1072556	hsa-miR-1323	CLIP-seq
MIRT1072559	hsa-miR-185	CLIP-seq
MIRT1072562	hsa-miR-210	CLIP-seq
MIRT1072564	hsa-miR-3120-3p	CLIP-seq
MIRT1072575	hsa-miR-3679-3p	CLIP-seq
MIRT1072577	hsa-miR-3910	CLIP-seq
MIRT2249698	hsa-miR-4282	CLIP-seq
MIRT1072582	hsa-miR-4325	CLIP-seq
MIRT1072585	hsa-miR-4490	CLIP-seq
MIRT1072586	hsa-miR-4528	CLIP-seq
MIRT1072589	hsa-miR-4693-3p	CLIP-seq
MIRT1072590	hsa-miR-4698	CLIP-seq
MIRT1072591	hsa-miR-4712-3p	CLIP-seq
MIRT1072593	hsa-miR-491-3p	CLIP-seq
MIRT1072594	hsa-miR-501-3p	CLIP-seq
MIRT1072595	hsa-miR-502-3p	CLIP-seq
MIRT1072596	hsa-miR-548o	CLIP-seq
MIRT1072603	hsa-miR-891b	CLIP-seq
MIRT1072554	hsa-miR-1273e	CLIP-seq
MIRT1550212	hsa-miR-154	CLIP-seq
MIRT1072559	hsa-miR-185	CLIP-seq
MIRT1072562	hsa-miR-210	CLIP-seq
MIRT1072564	hsa-miR-3120-3p	CLIP-seq
MIRT2389479	hsa-miR-323-3p	CLIP-seq
MIRT1072568	hsa-miR-329	CLIP-seq
MIRT1072571	hsa-miR-362-3p	CLIP-seq
MIRT1072578	hsa-miR-3941	CLIP-seq
MIRT1072583	hsa-miR-4327	CLIP-seq
MIRT1072589	hsa-miR-4693-3p	CLIP-seq
MIRT1072590	hsa-miR-4698	CLIP-seq
MIRT1072591	hsa-miR-4712-3p	CLIP-seq
MIRT1072592	hsa-miR-485-3p	CLIP-seq
MIRT1550222	hsa-miR-524-3p	CLIP-seq
MIRT1550223	hsa-miR-525-3p	CLIP-seq
MIRT1072597	hsa-miR-603	CLIP-seq
MIRT1072554	hsa-miR-1273e	CLIP-seq
MIRT1550212	hsa-miR-154	CLIP-seq
MIRT2389479	hsa-miR-323-3p	CLIP-seq
MIRT1072568	hsa-miR-329	CLIP-seq
MIRT1072571	hsa-miR-362-3p	CLIP-seq
MIRT1072578	hsa-miR-3941	CLIP-seq
MIRT1072580	hsa-miR-4277	CLIP-seq
MIRT1072581	hsa-miR-4303	CLIP-seq
MIRT1072583	hsa-miR-4327	CLIP-seq
MIRT1072586	hsa-miR-4528	CLIP-seq
MIRT1072587	hsa-miR-4649-3p	CLIP-seq
MIRT1072589	hsa-miR-4693-3p	CLIP-seq
MIRT1072590	hsa-miR-4698	CLIP-seq
MIRT1072591	hsa-miR-4712-3p	CLIP-seq
MIRT1072592	hsa-miR-485-3p	CLIP-seq
MIRT1550222	hsa-miR-524-3p	CLIP-seq
MIRT1550223	hsa-miR-525-3p	CLIP-seq
MIRT1072597	hsa-miR-603	CLIP-seq
MIRT1072553	hsa-miR-1207-3p	CLIP-seq
MIRT1072554	hsa-miR-1273e	CLIP-seq
MIRT1072555	hsa-miR-1287	CLIP-seq
MIRT2553166	hsa-miR-1321	CLIP-seq
MIRT1072557	hsa-miR-134	CLIP-seq
MIRT1072558	hsa-miR-138	CLIP-seq
MIRT1072559	hsa-miR-185	CLIP-seq
MIRT1072560	hsa-miR-18a	CLIP-seq
MIRT1072561	hsa-miR-18b	CLIP-seq
MIRT1072562	hsa-miR-210	CLIP-seq
MIRT1072563	hsa-miR-214	CLIP-seq
MIRT1072564	hsa-miR-3120-3p	CLIP-seq
MIRT1072565	hsa-miR-3135b	CLIP-seq
MIRT1072566	hsa-miR-3153	CLIP-seq
MIRT1072567	hsa-miR-3188	CLIP-seq
MIRT1072569	hsa-miR-3612	CLIP-seq
MIRT1072570	hsa-miR-3619-5p	CLIP-seq
MIRT1072572	hsa-miR-3650	CLIP-seq
MIRT1072573	hsa-miR-3665	CLIP-seq
MIRT1072576	hsa-miR-370	CLIP-seq
MIRT1072579	hsa-miR-4261	CLIP-seq
MIRT1072583	hsa-miR-4327	CLIP-seq
MIRT2553167	hsa-miR-4419a	CLIP-seq
MIRT1072584	hsa-miR-4443	CLIP-seq
MIRT2553168	hsa-miR-4510	CLIP-seq
MIRT1072588	hsa-miR-4668-5p	CLIP-seq
MIRT1072589	hsa-miR-4693-3p	CLIP-seq
MIRT1072591	hsa-miR-4712-3p	CLIP-seq
MIRT2553169	hsa-miR-4728-5p	CLIP-seq
MIRT2553170	hsa-miR-4738-3p	CLIP-seq
MIRT2553171	hsa-miR-4739	CLIP-seq
MIRT2553172	hsa-miR-4756-5p	CLIP-seq
MIRT2553173	hsa-miR-548g	CLIP-seq
MIRT1072598	hsa-miR-644	CLIP-seq
MIRT1072599	hsa-miR-650	CLIP-seq
MIRT1072601	hsa-miR-663b	CLIP-seq
MIRT1072602	hsa-miR-761	CLIP-seq
MIRT2553174	hsa-miR-892a	CLIP-seq
MIRT1072553	hsa-miR-1207-3p	CLIP-seq
MIRT1072554	hsa-miR-1273e	CLIP-seq
MIRT1072555	hsa-miR-1287	CLIP-seq
MIRT2553166	hsa-miR-1321	CLIP-seq
MIRT1072557	hsa-miR-134	CLIP-seq
MIRT1072558	hsa-miR-138	CLIP-seq
MIRT1072559	hsa-miR-185	CLIP-seq
MIRT1072560	hsa-miR-18a	CLIP-seq
MIRT1072561	hsa-miR-18b	CLIP-seq
MIRT1072562	hsa-miR-210	CLIP-seq
MIRT1072563	hsa-miR-214	CLIP-seq
MIRT1072564	hsa-miR-3120-3p	CLIP-seq
MIRT1072565	hsa-miR-3135b	CLIP-seq
MIRT1072566	hsa-miR-3153	CLIP-seq
MIRT1072567	hsa-miR-3188	CLIP-seq
MIRT1072569	hsa-miR-3612	CLIP-seq
MIRT1072570	hsa-miR-3619-5p	CLIP-seq
MIRT1072572	hsa-miR-3650	CLIP-seq
MIRT1072573	hsa-miR-3665	CLIP-seq
MIRT1072576	hsa-miR-370	CLIP-seq
MIRT1072579	hsa-miR-4261	CLIP-seq
MIRT1072583	hsa-miR-4327	CLIP-seq
MIRT2553167	hsa-miR-4419a	CLIP-seq
MIRT1072584	hsa-miR-4443	CLIP-seq
MIRT2553168	hsa-miR-4510	CLIP-seq
MIRT1072588	hsa-miR-4668-5p	CLIP-seq
MIRT1072589	hsa-miR-4693-3p	CLIP-seq
MIRT1072591	hsa-miR-4712-3p	CLIP-seq
MIRT2553169	hsa-miR-4728-5p	CLIP-seq
MIRT2553170	hsa-miR-4738-3p	CLIP-seq
MIRT2553171	hsa-miR-4739	CLIP-seq
MIRT2553172	hsa-miR-4756-5p	CLIP-seq
MIRT2553173	hsa-miR-548g	CLIP-seq
MIRT1072598	hsa-miR-644	CLIP-seq
MIRT1072599	hsa-miR-650	CLIP-seq
MIRT1072601	hsa-miR-663b	CLIP-seq
MIRT1072602	hsa-miR-761	CLIP-seq
MIRT2553174	hsa-miR-892a	CLIP-seq

Show/Hide all (41)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005506	Function	Iron ion binding	IEA
GO:0005506	Function	Iron ion binding	TAS	11060020
GO:0005515	Function	Protein binding	IPI	11060020, 15778465, 16527810, 20668094, 23940031, 24606901, 25416956, 26702583, 26749241, 29097656, 29309586, 31101807, 31515488, 32296183, 35271311, 36931259
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	TAS	16527810
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IDA	11060020
GO:0005737	Component	Cytoplasm	IEA
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IDA	11060020, 26702583
GO:0005739	Component	Mitochondrion	IEA
GO:0005739	Component	Mitochondrion	NAS	27519411
GO:0005759	Component	Mitochondrial matrix	IBA
GO:0005759	Component	Mitochondrial matrix	TAS
GO:0005829	Component	Cytosol	IDA	16527810
GO:0005829	Component	Cytosol	TAS
GO:0006879	Process	Intracellular iron ion homeostasis	IBA
GO:0006879	Process	Intracellular iron ion homeostasis	IDA	16517407, 23508953
GO:0008198	Function	Ferrous iron binding	IBA
GO:0008198	Function	Ferrous iron binding	IDA	38627381
GO:0008270	Function	Zinc ion binding	IDA	30031876
GO:0016226	Process	Iron-sulfur cluster assembly	IEA
GO:0016226	Process	Iron-sulfur cluster assembly	IMP	16517407
GO:0016226	Process	Iron-sulfur cluster assembly	NAS	29097656
GO:0016226	Process	Iron-sulfur cluster assembly	TAS	11060020
GO:0042803	Function	Protein homodimerization activity	IDA	29097656, 34824239
GO:0042803	Function	Protein homodimerization activity	IEA
GO:0044571	Process	[2Fe-2S] cluster assembly	IDA	23940031, 24971490, 29576242, 38627381
GO:0044572	Process	[4Fe-4S] cluster assembly	IDA	16527810, 23940031, 29576242
GO:0044572	Process	[4Fe-4S] cluster assembly	IEA
GO:0044572	Process	[4Fe-4S] cluster assembly	IMP	29309586
GO:0046872	Function	Metal ion binding	IEA
GO:0051536	Function	Iron-sulfur cluster binding	IEA
GO:0051537	Function	2 iron, 2 sulfur cluster binding	IBA
GO:0060090	Function	Molecular adaptor activity	IDA	16527810
GO:0099128	Component	Mitochondrial [2Fe-2S] assembly complex	IDA	21298097, 31101807
GO:0099128	Component	Mitochondrial [2Fe-2S] assembly complex	IEA
GO:0140132	Function	Iron-sulfur cluster chaperone activity	IDA	38627381
GO:1902958	Process	Positive regulation of mitochondrial electron transport, NADH to ubiquinone	IMP	20436681
GO:1904439	Process	Negative regulation of iron ion import across plasma membrane	IMP	20436681
GO:1990229	Component	Iron-sulfur cluster assembly complex	NAS	29097656

MIM	HGNC	e!Ensembl
611911	29882	ENSG00000136003

Q9H1K1

Protein name

Iron-sulfur cluster assembly enzyme ISCU (NifU-like N-terminal domain-containing protein) (NifU-like protein)

Protein function

[Isoform 1]: Mitochondrial scaffold protein, of the core iron-sulfur cluster (ISC) assembly complex, that provides the structural architecture on which the [2Fe-2S] clusters are assembled (PubMed:34824239). The core iron-sulfur cluster (ISC) ass

PDB

5KZ5 , 5WKP , 5WLW , 6NZU , 6UXE , 6W1D , 6WI2 , 6WIH , 7RTK , 8PK8 , 8PK9 , 8PKA , 8RMC , 8RMD , 8RME , 8RMF , 8RMG , 8TVT

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01592	NifU_N	34 → 160	NifU-like N terminal domain	Family

Tissue specificity

TISSUE SPECIFICITY: Detected in heart, liver, skeletal muscle, brain, pancreas, kidney, lung and placenta. {ECO:0000269|PubMed:11060020, ECO:0000269|PubMed:8875867}.

Sequence

MAAAGAFRLRRAASALLLRSPRLPARELSAPARLYHKKVVDHYENPRNVGSLDKTSKNVG
TGLVGAPACGDVMKLQIQVDEKGKIVDARFKTFGCGSAIASSSLATEWVKGKTVEEALTI
KNTDIAKELCLPPVKLHCSMLAEDAIKAALADYKLKQEPKKGEAEKK

Sequence length

167

Interactions

View interactions

	Reactome
			Mitochondrial iron-sulfur cluster biogenesis

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 (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Hereditary myopathy with lactic acidosis due to ISCU deficiency	Likely pathogenic; Pathogenic	rs267607190, rs767000507	RCV000000819 RCV000208760	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (4)

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.
ISCU-related disorder	Likely benign; Conflicting classifications of pathogenicity; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MITOCHONDRIAL DISEASE	—	ClinGen	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MITOCHONDRIAL DISEASES	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myopathy	Uncertain significance	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)

Show/Hide Text Mining Associations (37)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Adamantinous Craniopharyngioma	Adamantinous Craniopharyngioma	BEFREE	30031876		★★★★★ ★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	3260750		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomegaly	Cardiomegaly	Pubtator	24573684	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Celiac Disease	Celiac disease	BEFREE	2789173		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	27589845	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Gestational	Gestational diabetes	Pubtator	21801864	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Enteropathy-Associated T-Cell Lymphoma	Enteropathy-Associated T-Cell Lymphoma	BEFREE	3260750		★★★★★ ★☆☆☆☆ Found in Text Mining only
Friedreich Ataxia	Friedreich Ataxia	BEFREE	18606475, 22382365		★★★★★ ★☆☆☆☆ Found in Text Mining only
FRIEDREICH ATAXIA 1	Friedreich Ataxia	BEFREE	31101807		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary myopathy with lactic acidosis due to ISCU deficiency	Hereditary Myopathy With Lactic Acidosis	Orphanet			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hypoxia	Hypoxia	Pubtator	21801864, 29596470	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Idiopathic pulmonary arterial hypertension	Pulmonary arterial hypertension	BEFREE	31461310		★★★★★ ★☆☆☆☆ Found in Text Mining only
Iron Overload	Iron Overload	BEFREE	18304497		★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Neoplasms	Kidney neoplasm	Pubtator	23449350	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	31167914		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	9217043		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	9100993		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	31167914		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial Diseases	BEFREE	23035118		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mitochondrial Diseases	Mitochondrial disease	Pubtator	23943793	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mitochondrial Myopathies	Mitochondrial myopathy	BEFREE	24573684		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mitochondrial Myopathies	Mitochondrial myopathy	Pubtator	24573684, 29079705	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Mitochondrial Myopathies	Mitochondrial myopathy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	BEFREE	18296749, 18304497, 18606475, 19567699, 19846308, 19965627, 22125086, 22382365, 23035118, 24573684, 28007899		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Myopathy	Myopathy	LHGDN	18296749		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Myopathy	Myopathy	HPO_DG			★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
MYOPATHY WITH EXERCISE INTOLERANCE, SWEDISH TYPE	Myopathy	CLINVAR_DG	18296749, 18304497, 19846308, 20206689		★★★★★ ★☆☆☆☆ Found in Text Mining only
MYOPATHY WITH EXERCISE INTOLERANCE, SWEDISH TYPE	Myopathy	GENOMICS_ENGLAND_DG	18296749, 18304497, 20206689, 22125086		★★★★★ ★☆☆☆☆ Found in Text Mining only
MYOPATHY WITH EXERCISE INTOLERANCE, SWEDISH TYPE	Myopathy	BEFREE	20206689, 22125086, 27783661, 30209894		★★★★★ ★☆☆☆☆ Found in Text Mining only
MYOPATHY WITH EXERCISE INTOLERANCE, SWEDISH TYPE	Myopathy	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	28099149, 29126304		★★★★★ ★☆☆☆☆ Found in Text Mining only
Paraganglioma	Paraganglioma	BEFREE	22977270, 29126304		★★★★★ ★☆☆☆☆ Found in Text Mining only
Peripheral Arterial Disease	Peripheral arterial disease	Pubtator	35288364	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Peripheral T-Cell Lymphoma	T-Cell Lymphoma	BEFREE	3260750		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sideroblastic anemia	Sideroblastic Anemia	BEFREE	18606475		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sideroblastic anemia	Sideroblastic Anemia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	28099149	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

ISCU (iron-sulfur cluster assembly enzyme)