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

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	55669
Gene name	Mitofusin 1
Gene symbol	MFN1
Synonyms (NCBI Gene)	hfzo1hfzo2
Chromosome	3
Chromosome location	3q26.33
Summary	The protein encoded by this gene is a mediator of mitochondrial fusion. This protein and mitofusin 2 are homologs of the Drosophila protein fuzzy onion (Fzo). They are mitochondrial membrane proteins that interact with each other to facilitate mitochondri

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Show/Hide all (243)

miRTarBase ID	miRNA	Experiments	Reference
MIRT522523	hsa-miR-520b	PAR-CLIP	23446348
MIRT522522	hsa-miR-302c-3p	PAR-CLIP	23446348
MIRT522521	hsa-miR-302b-3p	PAR-CLIP	23446348
MIRT522520	hsa-miR-372-3p	PAR-CLIP	23446348
MIRT522519	hsa-miR-520d-3p	PAR-CLIP	23446348
MIRT522518	hsa-miR-302d-3p	PAR-CLIP	23446348
MIRT522517	hsa-miR-520e	PAR-CLIP	23446348
MIRT522516	hsa-miR-373-3p	PAR-CLIP	23446348
MIRT522515	hsa-miR-520a-3p	PAR-CLIP	23446348
MIRT522514	hsa-miR-520c-3p	PAR-CLIP	23446348
MIRT522513	hsa-miR-302a-3p	PAR-CLIP	23446348
MIRT522512	hsa-miR-302e	PAR-CLIP	23446348
MIRT522511	hsa-miR-20b-5p	PAR-CLIP	23446348
MIRT522510	hsa-miR-519d-3p	PAR-CLIP	23446348
MIRT522509	hsa-miR-106a-5p	PAR-CLIP	23446348
MIRT522508	hsa-miR-106b-5p	PAR-CLIP	23446348
MIRT522507	hsa-miR-17-5p	PAR-CLIP	23446348
MIRT522506	hsa-miR-93-5p	PAR-CLIP	23446348
MIRT522505	hsa-miR-20a-5p	PAR-CLIP	23446348
MIRT522504	hsa-miR-526b-3p	PAR-CLIP	23446348
MIRT522503	hsa-miR-7153-3p	PAR-CLIP	23446348
MIRT522502	hsa-miR-3186-5p	PAR-CLIP	23446348
MIRT522501	hsa-miR-512-3p	PAR-CLIP	23446348
MIRT522500	hsa-miR-1295b-3p	PAR-CLIP	23446348
MIRT522499	hsa-miR-6872-3p	PAR-CLIP	23446348
MIRT522498	hsa-miR-5009-3p	PAR-CLIP	23446348
MIRT522497	hsa-miR-619-5p	PAR-CLIP	23446348
MIRT522496	hsa-miR-6506-5p	PAR-CLIP	23446348
MIRT522495	hsa-miR-6791-3p	PAR-CLIP	23446348
MIRT522494	hsa-miR-6829-3p	PAR-CLIP	23446348
MIRT522493	hsa-miR-4731-5p	PAR-CLIP	23446348
MIRT522492	hsa-miR-5589-5p	PAR-CLIP	23446348
MIRT522491	hsa-miR-7158-3p	PAR-CLIP	23446348
MIRT522490	hsa-miR-5089-5p	PAR-CLIP	23446348
MIRT161819	hsa-miR-92a-3p	HITS-CLIP	22473208
MIRT161829	hsa-miR-92b-3p	HITS-CLIP	22473208
MIRT161818	hsa-miR-32-5p	HITS-CLIP	22473208
MIRT522523	hsa-miR-520b	PAR-CLIP	23446348
MIRT522522	hsa-miR-302c-3p	PAR-CLIP	23446348
MIRT522521	hsa-miR-302b-3p	PAR-CLIP	23446348
MIRT522520	hsa-miR-372-3p	PAR-CLIP	23446348
MIRT522519	hsa-miR-520d-3p	PAR-CLIP	23446348
MIRT522518	hsa-miR-302d-3p	PAR-CLIP	23446348
MIRT522517	hsa-miR-520e	PAR-CLIP	23446348
MIRT522516	hsa-miR-373-3p	PAR-CLIP	23446348
MIRT522515	hsa-miR-520a-3p	PAR-CLIP	23446348
MIRT522514	hsa-miR-520c-3p	PAR-CLIP	23446348
MIRT522513	hsa-miR-302a-3p	PAR-CLIP	23446348
MIRT522512	hsa-miR-302e	PAR-CLIP	23446348
MIRT522511	hsa-miR-20b-5p	PAR-CLIP	23446348
MIRT522510	hsa-miR-519d-3p	PAR-CLIP	23446348
MIRT522509	hsa-miR-106a-5p	PAR-CLIP	23446348
MIRT522508	hsa-miR-106b-5p	PAR-CLIP	23446348
MIRT522507	hsa-miR-17-5p	PAR-CLIP	23446348
MIRT522506	hsa-miR-93-5p	PAR-CLIP	23446348
MIRT522505	hsa-miR-20a-5p	PAR-CLIP	23446348
MIRT522504	hsa-miR-526b-3p	PAR-CLIP	23446348
MIRT522503	hsa-miR-7153-3p	PAR-CLIP	23446348
MIRT522502	hsa-miR-3186-5p	PAR-CLIP	23446348
MIRT522501	hsa-miR-512-3p	PAR-CLIP	23446348
MIRT522500	hsa-miR-1295b-3p	PAR-CLIP	23446348
MIRT522499	hsa-miR-6872-3p	PAR-CLIP	23446348
MIRT522498	hsa-miR-5009-3p	PAR-CLIP	23446348
MIRT522497	hsa-miR-619-5p	PAR-CLIP	23446348
MIRT522496	hsa-miR-6506-5p	PAR-CLIP	23446348
MIRT522495	hsa-miR-6791-3p	PAR-CLIP	23446348
MIRT522494	hsa-miR-6829-3p	PAR-CLIP	23446348
MIRT522493	hsa-miR-4731-5p	PAR-CLIP	23446348
MIRT522492	hsa-miR-5589-5p	PAR-CLIP	23446348
MIRT522491	hsa-miR-7158-3p	PAR-CLIP	23446348
MIRT522490	hsa-miR-5089-5p	PAR-CLIP	23446348
MIRT1146219	hsa-miR-10a	CLIP-seq
MIRT1146220	hsa-miR-10b	CLIP-seq
MIRT1146221	hsa-miR-1238	CLIP-seq
MIRT1146222	hsa-miR-125a-5p	CLIP-seq
MIRT1146223	hsa-miR-125b	CLIP-seq
MIRT1146224	hsa-miR-1279	CLIP-seq
MIRT1146225	hsa-miR-216b	CLIP-seq
MIRT1146226	hsa-miR-2681	CLIP-seq
MIRT1146227	hsa-miR-3158-3p	CLIP-seq
MIRT1146228	hsa-miR-3189-3p	CLIP-seq
MIRT1146229	hsa-miR-323-5p	CLIP-seq
MIRT1146230	hsa-miR-330-3p	CLIP-seq
MIRT1146231	hsa-miR-331-5p	CLIP-seq
MIRT1146232	hsa-miR-338-3p	CLIP-seq
MIRT1146233	hsa-miR-3908	CLIP-seq
MIRT1146234	hsa-miR-4319	CLIP-seq
MIRT1146235	hsa-miR-4324	CLIP-seq
MIRT1146236	hsa-miR-4329	CLIP-seq
MIRT1146237	hsa-miR-4530	CLIP-seq
MIRT1146238	hsa-miR-4643	CLIP-seq
MIRT1146239	hsa-miR-466	CLIP-seq
MIRT1146240	hsa-miR-4672	CLIP-seq
MIRT1146241	hsa-miR-4691-5p	CLIP-seq
MIRT1146242	hsa-miR-4699-3p	CLIP-seq
MIRT1146243	hsa-miR-4760-3p	CLIP-seq
MIRT1146244	hsa-miR-4789-3p	CLIP-seq
MIRT1146245	hsa-miR-483-3p	CLIP-seq
MIRT1146246	hsa-miR-582-5p	CLIP-seq
MIRT1146247	hsa-miR-876-3p	CLIP-seq
MIRT2041573	hsa-miR-1236	CLIP-seq
MIRT1146221	hsa-miR-1238	CLIP-seq
MIRT2041574	hsa-miR-128	CLIP-seq
MIRT2041575	hsa-miR-2110	CLIP-seq
MIRT1146226	hsa-miR-2681	CLIP-seq
MIRT2041576	hsa-miR-3692	CLIP-seq
MIRT2041577	hsa-miR-4271	CLIP-seq
MIRT1146241	hsa-miR-4691-5p	CLIP-seq
MIRT2041578	hsa-miR-4725-3p	CLIP-seq
MIRT1146243	hsa-miR-4760-3p	CLIP-seq
MIRT2041579	hsa-miR-491-5p	CLIP-seq
MIRT1146224	hsa-miR-1279	CLIP-seq
MIRT2271180	hsa-miR-134	CLIP-seq
MIRT2271181	hsa-miR-153	CLIP-seq
MIRT2271182	hsa-miR-3118	CLIP-seq
MIRT1146227	hsa-miR-3158-3p	CLIP-seq
MIRT2271183	hsa-miR-3164	CLIP-seq
MIRT1146228	hsa-miR-3189-3p	CLIP-seq
MIRT1146229	hsa-miR-323-5p	CLIP-seq
MIRT1146231	hsa-miR-331-5p	CLIP-seq
MIRT1146232	hsa-miR-338-3p	CLIP-seq
MIRT2041576	hsa-miR-3692	CLIP-seq
MIRT2271184	hsa-miR-369-3p	CLIP-seq
MIRT2271185	hsa-miR-374c	CLIP-seq
MIRT1146233	hsa-miR-3908	CLIP-seq
MIRT2271186	hsa-miR-3938	CLIP-seq
MIRT2271187	hsa-miR-4422	CLIP-seq
MIRT2271188	hsa-miR-448	CLIP-seq
MIRT2271189	hsa-miR-4496	CLIP-seq
MIRT1146237	hsa-miR-4530	CLIP-seq
MIRT1146240	hsa-miR-4672	CLIP-seq
MIRT2271190	hsa-miR-4698	CLIP-seq
MIRT1146243	hsa-miR-4760-3p	CLIP-seq
MIRT1146245	hsa-miR-483-3p	CLIP-seq
MIRT2271191	hsa-miR-499-3p	CLIP-seq
MIRT2271192	hsa-miR-499a-3p	CLIP-seq
MIRT1146246	hsa-miR-582-5p	CLIP-seq
MIRT2271193	hsa-miR-655	CLIP-seq
MIRT1146247	hsa-miR-876-3p	CLIP-seq
MIRT2271194	hsa-miR-9	CLIP-seq
MIRT2271195	hsa-miR-943	CLIP-seq
MIRT2390850	hsa-miR-452	CLIP-seq
MIRT2390851	hsa-miR-4676-3p	CLIP-seq
MIRT2271194	hsa-miR-9	CLIP-seq
MIRT1146224	hsa-miR-1279	CLIP-seq
MIRT1146231	hsa-miR-331-5p	CLIP-seq
MIRT1146243	hsa-miR-4760-3p	CLIP-seq
MIRT2431109	hsa-miR-548a-5p	CLIP-seq
MIRT2431110	hsa-miR-548ab	CLIP-seq
MIRT2431111	hsa-miR-548ak	CLIP-seq
MIRT2431112	hsa-miR-548b-5p	CLIP-seq
MIRT2431113	hsa-miR-548c-5p	CLIP-seq
MIRT2431114	hsa-miR-548d-5p	CLIP-seq
MIRT2431115	hsa-miR-548h	CLIP-seq
MIRT2431116	hsa-miR-548i	CLIP-seq
MIRT2431117	hsa-miR-548j	CLIP-seq
MIRT2431118	hsa-miR-548k	CLIP-seq
MIRT2431119	hsa-miR-548l	CLIP-seq
MIRT2431120	hsa-miR-548w	CLIP-seq
MIRT2431121	hsa-miR-548y	CLIP-seq
MIRT2431122	hsa-miR-559	CLIP-seq
MIRT1146246	hsa-miR-582-5p	CLIP-seq
MIRT2438573	hsa-miR-3591-5p	CLIP-seq
MIRT1146240	hsa-miR-4672	CLIP-seq
MIRT2438574	hsa-miR-4729	CLIP-seq
MIRT2431109	hsa-miR-548a-5p	CLIP-seq
MIRT2431110	hsa-miR-548ab	CLIP-seq
MIRT2438575	hsa-miR-548ac	CLIP-seq
MIRT2438576	hsa-miR-548ae	CLIP-seq
MIRT2438577	hsa-miR-548aj	CLIP-seq
MIRT2431111	hsa-miR-548ak	CLIP-seq
MIRT2438578	hsa-miR-548am	CLIP-seq
MIRT2431112	hsa-miR-548b-5p	CLIP-seq
MIRT2431113	hsa-miR-548c-5p	CLIP-seq
MIRT2438579	hsa-miR-548d-3p	CLIP-seq
MIRT2431114	hsa-miR-548d-5p	CLIP-seq
MIRT2431115	hsa-miR-548h	CLIP-seq
MIRT2431116	hsa-miR-548i	CLIP-seq
MIRT2431117	hsa-miR-548j	CLIP-seq
MIRT2438580	hsa-miR-548n	CLIP-seq
MIRT2431120	hsa-miR-548w	CLIP-seq
MIRT2438581	hsa-miR-548x	CLIP-seq
MIRT2431121	hsa-miR-548y	CLIP-seq
MIRT2438582	hsa-miR-548z	CLIP-seq
MIRT2431122	hsa-miR-559	CLIP-seq
MIRT1146224	hsa-miR-1279	CLIP-seq
MIRT2271180	hsa-miR-134	CLIP-seq
MIRT2271181	hsa-miR-153	CLIP-seq
MIRT2570313	hsa-miR-23a	CLIP-seq
MIRT2570314	hsa-miR-23b	CLIP-seq
MIRT2570315	hsa-miR-23c	CLIP-seq
MIRT2271182	hsa-miR-3118	CLIP-seq
MIRT1146227	hsa-miR-3158-3p	CLIP-seq
MIRT2271183	hsa-miR-3164	CLIP-seq
MIRT1146231	hsa-miR-331-5p	CLIP-seq
MIRT2438573	hsa-miR-3591-5p	CLIP-seq
MIRT2271184	hsa-miR-369-3p	CLIP-seq
MIRT2271185	hsa-miR-374c	CLIP-seq
MIRT2570316	hsa-miR-4255	CLIP-seq
MIRT2570317	hsa-miR-4328	CLIP-seq
MIRT2271188	hsa-miR-448	CLIP-seq
MIRT1146240	hsa-miR-4672	CLIP-seq
MIRT2570318	hsa-miR-4681	CLIP-seq
MIRT2438574	hsa-miR-4729	CLIP-seq
MIRT1146243	hsa-miR-4760-3p	CLIP-seq
MIRT2271191	hsa-miR-499-3p	CLIP-seq
MIRT2271192	hsa-miR-499a-3p	CLIP-seq
MIRT2431109	hsa-miR-548a-5p	CLIP-seq
MIRT2431110	hsa-miR-548ab	CLIP-seq
MIRT2438575	hsa-miR-548ac	CLIP-seq
MIRT2438576	hsa-miR-548ae	CLIP-seq
MIRT2438577	hsa-miR-548aj	CLIP-seq
MIRT2431111	hsa-miR-548ak	CLIP-seq
MIRT2438578	hsa-miR-548am	CLIP-seq
MIRT2431112	hsa-miR-548b-5p	CLIP-seq
MIRT2570319	hsa-miR-548c-3p	CLIP-seq
MIRT2431113	hsa-miR-548c-5p	CLIP-seq
MIRT2438579	hsa-miR-548d-3p	CLIP-seq
MIRT2431114	hsa-miR-548d-5p	CLIP-seq
MIRT2431115	hsa-miR-548h	CLIP-seq
MIRT2431116	hsa-miR-548i	CLIP-seq
MIRT2431117	hsa-miR-548j	CLIP-seq
MIRT2431118	hsa-miR-548k	CLIP-seq
MIRT2431119	hsa-miR-548l	CLIP-seq
MIRT2438580	hsa-miR-548n	CLIP-seq
MIRT2431120	hsa-miR-548w	CLIP-seq
MIRT2438581	hsa-miR-548x	CLIP-seq
MIRT2431121	hsa-miR-548y	CLIP-seq
MIRT2438582	hsa-miR-548z	CLIP-seq
MIRT2431122	hsa-miR-559	CLIP-seq
MIRT1146246	hsa-miR-582-5p	CLIP-seq
MIRT2570320	hsa-miR-600	CLIP-seq
MIRT2271193	hsa-miR-655	CLIP-seq
MIRT1146224	hsa-miR-1279	CLIP-seq
MIRT1146227	hsa-miR-3158-3p	CLIP-seq
MIRT1146231	hsa-miR-331-5p	CLIP-seq
MIRT2570317	hsa-miR-4328	CLIP-seq
MIRT1146240	hsa-miR-4672	CLIP-seq
MIRT2570318	hsa-miR-4681	CLIP-seq
MIRT1146243	hsa-miR-4760-3p	CLIP-seq
MIRT2271191	hsa-miR-499-3p	CLIP-seq
MIRT2271192	hsa-miR-499a-3p	CLIP-seq
MIRT1146246	hsa-miR-582-5p	CLIP-seq

Show/Hide all (30)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0003924	Function	GTPase activity	IBA
GO:0003924	Function	GTPase activity	IDA	27920125
GO:0003924	Function	GTPase activity	IEA
GO:0003924	Function	GTPase activity	IMP	28114303
GO:0005515	Function	Protein binding	IPI	19052620, 20019757, 25008184, 28514442, 33961781, 35271311
GO:0005525	Function	GTP binding	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IDA	20871098, 27920125
GO:0005739	Component	Mitochondrion	IEA
GO:0005741	Component	Mitochondrial outer membrane	IBA
GO:0005741	Component	Mitochondrial outer membrane	IDA	12759376
GO:0005741	Component	Mitochondrial outer membrane	IEA
GO:0005741	Component	Mitochondrial outer membrane	TAS
GO:0007005	Process	Mitochondrion organization	IEA
GO:0008053	Process	Mitochondrial fusion	IBA
GO:0008053	Process	Mitochondrial fusion	IDA	20436456
GO:0008053	Process	Mitochondrial fusion	IEA
GO:0008053	Process	Mitochondrial fusion	IEA
GO:0008053	Process	Mitochondrial fusion	IMP	12759376, 23921378, 27920125, 28114303
GO:0010918	Process	Positive regulation of mitochondrial membrane potential	IEA
GO:0016020	Component	Membrane	IDA	27920125
GO:0016020	Component	Membrane	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0042802	Function	Identical protein binding	IPI	29483649
GO:0046039	Process	GTP metabolic process	IDA	27920125
GO:0051646	Process	Mitochondrion localization	IBA
GO:0051646	Process	Mitochondrion localization	IMP	12759376
GO:0098799	Component	Outer mitochondrial membrane protein complex	IDA	12759376

MIM	HGNC	e!Ensembl
608506	18262	ENSG00000171109

Q8IWA4

Protein name

Mitofusin-1 (EC 3.6.5.-) (Fzo homolog) (Transmembrane GTPase MFN1)

Protein function

Mitochondrial outer membrane GTPase that mediates mitochondrial clustering and fusion (PubMed:12475957, PubMed:12759376, PubMed:27920125, PubMed:28114303). Membrane clustering requires GTPase activity (PubMed:27920125). It may involve a major re

PDB

5GNR , 5GNS , 5GNT , 5GNU , 5GO4 , 5GOE , 5GOF , 5GOM , 5YEW

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00350	Dynamin_N	78 → 238	Dynamin family	Domain
PF04799	Fzo_mitofusin	575 → 735	fzo-like conserved region	Family

Tissue specificity

TISSUE SPECIFICITY: Detected in kidney and heart (at protein level) (PubMed:12759376). Ubiquitous (PubMed:11950885, PubMed:12759376). Expressed at slightly higher level in kidney and heart (PubMed:12759376). Isoform 2 may be overexpressed in some tumors,

Sequence

MAEPVSPLKHFVLAKKAITAIFDQLLEFVTEGSHFVEATYKNPELDRIATEDDLVEMQGY
KDKLSIIGEVLSRRHMKVAFFGRTSSGKSSVINAMLWDKVLPSGIGHITNCFLSVEGTDG
DKAYLMTEGSDEKKSVKTVNQLAHALHMDKDLKAGCLVRVFWPKAKCALLRDDLVLVDSP
GTDVTTELDSWIDKFCLDADVFVLVANSESTLMNTEKHFFHKVNERLSKPNIFILNNRWD
ASASEPEYMEDVRRQHMERCLHFLVEELKVVNALEAQNRIFFVSAKEVLSARKQKAQGMP
ESGVALAEGFHARLQEFQNFEQIFEECISQSAVKTKFEQHTIRAKQILATVKNIMDSVNL
AAEDKRHYSVEEREDQIDRLDFIRNQMNLLTLDVKKKIKEVTEEVANKVSCAMTDEICRL
SVLVDEFCSEFHPNPDVLKIYKSELNKHIEDGMGRNLADRCTDEVNALVLQTQQEIIENL
KPLLPAGIQDKLHTLIPCKKFDLSYNLNYHKLCSDFQEDIVFRFSLGWSSLVHRFLGPRN
AQRVLLGLSEPIFQLPRSLASTPTAPTTPATPDNASQEELMITLVTGLASVTSRTSMGII
IVGGVIWKTIGWKLLSVSLTMYGALYLYERLSWTTHAKERAFKQQFVNYATEKLRMIVSS
TSANCSHQVKQQIATTFARLCQQVDITQKQLEEEIARLPKEIDQLEKIQNNSKLLRNKAV
QLENELENFTKQFLPSSNEES

Sequence length

741

Interactions

View interactions

	KEGG		Reactome
	Mitophagy - animal NOD-like receptor signaling pathway Parkinson disease Pathways of neurodegeneration - multiple diseases		Pink/Parkin Mediated Mitophagy Factors involved in megakaryocyte development and platelet production

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 Unknown Diseases (9)

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.
AMYOTROPHIC LATERAL SCLEROSIS	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CEROID LIPOFUSCINOSIS, NEURONAL 1, INFANTILE	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CEROID LIPOFUSCINOSIS, NEURONAL, 1	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GOUT	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
JUVENILE NEURONAL CEROID LIPOFUSCINOSIS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LATE-INFANTILE NEURONAL CEROID LIPOFUSCINOSIS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURONAL CEROID-LIPOFUSCINOSES	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (50)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	22975021, 23713734		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anodontia	Anodontia	Pubtator	28803425	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Aortic Valve Stenosis	Aortic Valve Sclerosis	BEFREE	31285364		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorder	Autism	Pubtator	23333625, 31018497	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	30339249		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	23128392	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Dilated	Dilated cardiomyopathy	Pubtator	30873819	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ceroid lipofuscinosis, neuronal 1, infantile	Neuronal ceroid lipofuscinosis	CTD_human_DG	21224254		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Charcot-Marie-Tooth Disease	Charcot-Marie-Tooth Disease	BEFREE	22442078		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic kidney disease stage 5	Kidney Disease	BEFREE	31099942		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	UNIPROT_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	28803425, 36333388	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	30659190, 30873819		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetic Foot	Diabetic foot	Pubtator	38287255	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal carcinoma	Esophageal Carcinoma	BEFREE	30501006		★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophagus Neoplasm	BEFREE	30501006		★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophageal neoplasm	Pubtator	30501006	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	30501006	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	Pubtator	38241218	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	36838582	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	30659190, 30873819		★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart Failure	Heart failure	Pubtator	30873819	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington disease	Pubtator	21257639, 39284371	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperphenylalaninaemia	Hyperphenylalaninemia	BEFREE	29454001		★★★★★ ★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Idiopathic pulmonary fibrosis	Pubtator	37569523	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Failure, Chronic	Kidney Failure	BEFREE	31099942		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	29210177, 31819189		★★★★★ ★☆☆☆☆ Found in Text Mining only
Low Tension Glaucoma	Low Tension Glaucoma	BEFREE	19754948		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	36573240	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of esophagus	Esophagus Neoplasm	BEFREE	30501006		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	24626641		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	23128392		★★★★★ ★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	30916813		★★★★★ ★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	38195762, 40141318	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	21615408, 28112198, 30108368, 31717806, 39284371	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial Diseases	BEFREE	31609634		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	Pubtator	18846214	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	28803425		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuromuscular Diseases	Neuromuscular Diseases	BEFREE	28114303		★★★★★ ★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	BEFREE	28131082, 31629238		★★★★★ ★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic atrophy	Pubtator	39549292	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Optic Atrophy 1	Optic Atrophy	BEFREE	27491814, 27776427, 28174208, 28758339, 28761019, 29419407, 29993201, 30112072, 30312515, 31032918, 31055771, 31085166, 31316549, 31445975, 31524603, 31551926, 31822044, 31841897 View all (3 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	24824927		★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	21139416	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	24626641		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	31358769		★★★★★ ★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	Pubtator	37027465	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Sjogren's Syndrome	Sjogren syndrome	Pubtator	35359935	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Sleep Deprivation	Sleep deprivation	Pubtator	26813789, 28112198, 36613786	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	30501006		★★★★★ ★☆☆☆☆ Found in Text Mining only

MFN1 (mitofusin 1)