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

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	10939
Gene name Gene Name - the full gene name approved by the HGNC.	AFG3 like matrix AAA peptidase subunit 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	AFG3L2
Synonyms (NCBI Gene) Gene synonyms aliases	OPA12, SCA28, SPAX5
Chromosome Chromosome number	18
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	18p11.21
Summary Summary of gene provided in NCBI Entrez Gene.	This gene encodes a protein localized in mitochondria and closely related to paraplegin. The paraplegin gene is responsible for an autosomal recessive form of hereditary spastic paraplegia. This gene is a candidate gene for other hereditary spastic parapl

Show/Hide all(12)

SNP ID	Visualize variation	Clinical significance	Consequence
rs151344512	T>C,G	Uncertain-significance, pathogenic	Missense variant, coding sequence variant
rs182327153	G>A	Conflicting-interpretations-of-pathogenicity	Intron variant
rs543422544	G>A	Likely-pathogenic	Coding sequence variant, stop gained
rs1005670966	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1020764190	G>A	Pathogenic	Coding sequence variant, missense variant
rs1057518024	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1064795281	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1378484093	G>A,C	Likely-pathogenic	Coding sequence variant, missense variant, stop gained
rs1568149481	G>A	Likely-pathogenic	Coding sequence variant, stop gained
rs1598832526	C>T	Pathogenic	Splice donor variant
rs1598832568	A>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1598833532	C>T	Likely-pathogenic	Splice donor variant

Show/Hide all(225)

miRTarBase ID	miRNA	Experiments	Reference
MIRT031837	hsa-miR-16-5p	Proteomics	18668040
MIRT771435	hsa-miR-1207-3p	CLIP-seq
MIRT771436	hsa-miR-1302	CLIP-seq
MIRT771437	hsa-miR-186	CLIP-seq
MIRT771438	hsa-miR-224	CLIP-seq
MIRT771439	hsa-miR-2467-5p	CLIP-seq
MIRT771440	hsa-miR-3133	CLIP-seq
MIRT771441	hsa-miR-3188	CLIP-seq
MIRT771442	hsa-miR-3622a-3p	CLIP-seq
MIRT771443	hsa-miR-3622b-3p	CLIP-seq
MIRT771444	hsa-miR-3652	CLIP-seq
MIRT771445	hsa-miR-369-3p	CLIP-seq
MIRT771446	hsa-miR-374c	CLIP-seq
MIRT771447	hsa-miR-380	CLIP-seq
MIRT771448	hsa-miR-3922-5p	CLIP-seq
MIRT771449	hsa-miR-3924	CLIP-seq
MIRT771450	hsa-miR-3975	CLIP-seq
MIRT771451	hsa-miR-4298	CLIP-seq
MIRT771452	hsa-miR-4302	CLIP-seq
MIRT771453	hsa-miR-4430	CLIP-seq
MIRT771454	hsa-miR-4446-5p	CLIP-seq
MIRT771455	hsa-miR-4495	CLIP-seq
MIRT771456	hsa-miR-4505	CLIP-seq
MIRT771457	hsa-miR-4640-5p	CLIP-seq
MIRT771458	hsa-miR-4699-3p	CLIP-seq
MIRT771459	hsa-miR-4722-3p	CLIP-seq
MIRT771460	hsa-miR-4726-5p	CLIP-seq
MIRT771461	hsa-miR-4755-5p	CLIP-seq
MIRT771462	hsa-miR-4786-3p	CLIP-seq
MIRT771463	hsa-miR-485-5p	CLIP-seq
MIRT771464	hsa-miR-642a	CLIP-seq
MIRT771465	hsa-miR-648	CLIP-seq
MIRT771466	hsa-miR-655	CLIP-seq
MIRT1927642	hsa-miR-1273	CLIP-seq
MIRT1927643	hsa-miR-1273c	CLIP-seq
MIRT1927644	hsa-miR-188-5p	CLIP-seq
MIRT1927645	hsa-miR-3150b-3p	CLIP-seq
MIRT1927646	hsa-miR-324-5p	CLIP-seq
MIRT1927647	hsa-miR-4311	CLIP-seq
MIRT1927648	hsa-miR-4422	CLIP-seq
MIRT1927649	hsa-miR-4471	CLIP-seq
MIRT1927650	hsa-miR-4481	CLIP-seq
MIRT1927651	hsa-miR-4649-5p	CLIP-seq
MIRT1927652	hsa-miR-4689	CLIP-seq
MIRT1927653	hsa-miR-4709-3p	CLIP-seq
MIRT1927654	hsa-miR-4745-5p	CLIP-seq
MIRT1927655	hsa-miR-4784	CLIP-seq
MIRT1927656	hsa-miR-885-5p	CLIP-seq
MIRT2168406	hsa-miR-1245	CLIP-seq
MIRT2168407	hsa-miR-1260	CLIP-seq
MIRT2168408	hsa-miR-1260b	CLIP-seq
MIRT2168409	hsa-miR-130a	CLIP-seq
MIRT2168410	hsa-miR-130b	CLIP-seq
MIRT2168411	hsa-miR-148a	CLIP-seq
MIRT2168412	hsa-miR-148b	CLIP-seq
MIRT2168413	hsa-miR-152	CLIP-seq
MIRT2168414	hsa-miR-1825	CLIP-seq
MIRT2168415	hsa-miR-188-3p	CLIP-seq
MIRT1927644	hsa-miR-188-5p	CLIP-seq
MIRT2168416	hsa-miR-199a-5p	CLIP-seq
MIRT2168417	hsa-miR-199b-5p	CLIP-seq
MIRT2168418	hsa-miR-208a	CLIP-seq
MIRT2168419	hsa-miR-208b	CLIP-seq
MIRT2168420	hsa-miR-27a	CLIP-seq
MIRT2168421	hsa-miR-27b	CLIP-seq
MIRT2168422	hsa-miR-301a	CLIP-seq
MIRT2168423	hsa-miR-301b	CLIP-seq
MIRT2168424	hsa-miR-3064-3p	CLIP-seq
MIRT2168425	hsa-miR-3120-3p	CLIP-seq
MIRT2168426	hsa-miR-3130-3p	CLIP-seq
MIRT2168427	hsa-miR-3145-5p	CLIP-seq
MIRT2168428	hsa-miR-3156-3p	CLIP-seq
MIRT2168429	hsa-miR-3182	CLIP-seq
MIRT1927646	hsa-miR-324-5p	CLIP-seq
MIRT2168430	hsa-miR-3614-5p	CLIP-seq
MIRT2168431	hsa-miR-3617	CLIP-seq
MIRT2168432	hsa-miR-3666	CLIP-seq
MIRT2168433	hsa-miR-4286	CLIP-seq
MIRT2168434	hsa-miR-4295	CLIP-seq
MIRT2168435	hsa-miR-4320	CLIP-seq
MIRT1927649	hsa-miR-4471	CLIP-seq
MIRT2168436	hsa-miR-454	CLIP-seq
MIRT2168437	hsa-miR-4659a-3p	CLIP-seq
MIRT2168438	hsa-miR-4659b-3p	CLIP-seq
MIRT2168439	hsa-miR-4690-3p	CLIP-seq
MIRT771459	hsa-miR-4722-3p	CLIP-seq
MIRT2168440	hsa-miR-4766-5p	CLIP-seq
MIRT2168441	hsa-miR-4775	CLIP-seq
MIRT2168442	hsa-miR-4782-5p	CLIP-seq
MIRT2168443	hsa-miR-4793-3p	CLIP-seq
MIRT2168444	hsa-miR-499-5p	CLIP-seq
MIRT2168445	hsa-miR-513a-5p	CLIP-seq
MIRT2168446	hsa-miR-548aa	CLIP-seq
MIRT2168447	hsa-miR-567	CLIP-seq
MIRT2168448	hsa-miR-641	CLIP-seq
MIRT1927656	hsa-miR-885-5p	CLIP-seq
MIRT2168449	hsa-miR-891a	CLIP-seq
MIRT1927649	hsa-miR-4471	CLIP-seq
MIRT2470987	hsa-miR-103a	CLIP-seq
MIRT2470988	hsa-miR-107	CLIP-seq
MIRT2470989	hsa-miR-1179	CLIP-seq
MIRT771435	hsa-miR-1207-3p	CLIP-seq
MIRT2470990	hsa-miR-1227	CLIP-seq
MIRT2470991	hsa-miR-1285	CLIP-seq
MIRT771436	hsa-miR-1302	CLIP-seq
MIRT2470992	hsa-miR-2355-5p	CLIP-seq
MIRT771439	hsa-miR-2467-5p	CLIP-seq
MIRT2168424	hsa-miR-3064-3p	CLIP-seq
MIRT2470993	hsa-miR-3180-5p	CLIP-seq
MIRT2168429	hsa-miR-3182	CLIP-seq
MIRT2470994	hsa-miR-3187-5p	CLIP-seq
MIRT771441	hsa-miR-3188	CLIP-seq
MIRT2470995	hsa-miR-3192	CLIP-seq
MIRT2470996	hsa-miR-326	CLIP-seq
MIRT2470997	hsa-miR-330-5p	CLIP-seq
MIRT2470998	hsa-miR-338-3p	CLIP-seq
MIRT2168430	hsa-miR-3614-5p	CLIP-seq
MIRT771444	hsa-miR-3652	CLIP-seq
MIRT2470999	hsa-miR-3679-3p	CLIP-seq
MIRT2471000	hsa-miR-378g	CLIP-seq
MIRT2471001	hsa-miR-3921	CLIP-seq
MIRT771448	hsa-miR-3922-5p	CLIP-seq
MIRT2471002	hsa-miR-3929	CLIP-seq
MIRT771450	hsa-miR-3975	CLIP-seq
MIRT2168433	hsa-miR-4286	CLIP-seq
MIRT771451	hsa-miR-4298	CLIP-seq
MIRT2471003	hsa-miR-4300	CLIP-seq
MIRT771452	hsa-miR-4302	CLIP-seq
MIRT2471004	hsa-miR-4310	CLIP-seq
MIRT2471005	hsa-miR-4314	CLIP-seq
MIRT2471006	hsa-miR-4419b	CLIP-seq
MIRT771453	hsa-miR-4430	CLIP-seq
MIRT2471007	hsa-miR-4437	CLIP-seq
MIRT771454	hsa-miR-4446-5p	CLIP-seq
MIRT2471008	hsa-miR-4478	CLIP-seq
MIRT2471009	hsa-miR-4486	CLIP-seq
MIRT771456	hsa-miR-4505	CLIP-seq
MIRT2471010	hsa-miR-4521	CLIP-seq
MIRT2471011	hsa-miR-4530	CLIP-seq
MIRT771457	hsa-miR-4640-5p	CLIP-seq
MIRT2471012	hsa-miR-4646-5p	CLIP-seq
MIRT2471013	hsa-miR-4649-3p	CLIP-seq
MIRT2471014	hsa-miR-4653-5p	CLIP-seq
MIRT2168437	hsa-miR-4659a-3p	CLIP-seq
MIRT2168438	hsa-miR-4659b-3p	CLIP-seq
MIRT2471015	hsa-miR-4668-3p	CLIP-seq
MIRT2471016	hsa-miR-4674	CLIP-seq
MIRT2471017	hsa-miR-4714-3p	CLIP-seq
MIRT2471018	hsa-miR-4715-3p	CLIP-seq
MIRT771460	hsa-miR-4726-5p	CLIP-seq
MIRT771461	hsa-miR-4755-5p	CLIP-seq
MIRT2471019	hsa-miR-4759	CLIP-seq
MIRT2168440	hsa-miR-4766-5p	CLIP-seq
MIRT2471020	hsa-miR-4794	CLIP-seq
MIRT771463	hsa-miR-485-5p	CLIP-seq
MIRT2471021	hsa-miR-488	CLIP-seq
MIRT2471022	hsa-miR-612	CLIP-seq
MIRT771464	hsa-miR-642a	CLIP-seq
MIRT771465	hsa-miR-648	CLIP-seq
MIRT2471023	hsa-miR-920	CLIP-seq
MIRT2470987	hsa-miR-103a	CLIP-seq
MIRT2470988	hsa-miR-107	CLIP-seq
MIRT2470989	hsa-miR-1179	CLIP-seq
MIRT771435	hsa-miR-1207-3p	CLIP-seq
MIRT2470990	hsa-miR-1227	CLIP-seq
MIRT2470991	hsa-miR-1285	CLIP-seq
MIRT771436	hsa-miR-1302	CLIP-seq
MIRT2470992	hsa-miR-2355-5p	CLIP-seq
MIRT771439	hsa-miR-2467-5p	CLIP-seq
MIRT2168424	hsa-miR-3064-3p	CLIP-seq
MIRT2470993	hsa-miR-3180-5p	CLIP-seq
MIRT2168429	hsa-miR-3182	CLIP-seq
MIRT2470994	hsa-miR-3187-5p	CLIP-seq
MIRT771441	hsa-miR-3188	CLIP-seq
MIRT2470995	hsa-miR-3192	CLIP-seq
MIRT2470996	hsa-miR-326	CLIP-seq
MIRT2470997	hsa-miR-330-5p	CLIP-seq
MIRT2470998	hsa-miR-338-3p	CLIP-seq
MIRT2168430	hsa-miR-3614-5p	CLIP-seq
MIRT771444	hsa-miR-3652	CLIP-seq
MIRT2470999	hsa-miR-3679-3p	CLIP-seq
MIRT2471000	hsa-miR-378g	CLIP-seq
MIRT2471001	hsa-miR-3921	CLIP-seq
MIRT771448	hsa-miR-3922-5p	CLIP-seq
MIRT2471002	hsa-miR-3929	CLIP-seq
MIRT771450	hsa-miR-3975	CLIP-seq
MIRT2168433	hsa-miR-4286	CLIP-seq
MIRT771451	hsa-miR-4298	CLIP-seq
MIRT2471003	hsa-miR-4300	CLIP-seq
MIRT771452	hsa-miR-4302	CLIP-seq
MIRT2471004	hsa-miR-4310	CLIP-seq
MIRT2471005	hsa-miR-4314	CLIP-seq
MIRT2471006	hsa-miR-4419b	CLIP-seq
MIRT771453	hsa-miR-4430	CLIP-seq
MIRT2471007	hsa-miR-4437	CLIP-seq
MIRT771454	hsa-miR-4446-5p	CLIP-seq
MIRT2471008	hsa-miR-4478	CLIP-seq
MIRT2471009	hsa-miR-4486	CLIP-seq
MIRT771456	hsa-miR-4505	CLIP-seq
MIRT2471010	hsa-miR-4521	CLIP-seq
MIRT2471011	hsa-miR-4530	CLIP-seq
MIRT771457	hsa-miR-4640-5p	CLIP-seq
MIRT2471012	hsa-miR-4646-5p	CLIP-seq
MIRT2471013	hsa-miR-4649-3p	CLIP-seq
MIRT2471014	hsa-miR-4653-5p	CLIP-seq
MIRT2168437	hsa-miR-4659a-3p	CLIP-seq
MIRT2168438	hsa-miR-4659b-3p	CLIP-seq
MIRT2471015	hsa-miR-4668-3p	CLIP-seq
MIRT2471016	hsa-miR-4674	CLIP-seq
MIRT2471017	hsa-miR-4714-3p	CLIP-seq
MIRT2471018	hsa-miR-4715-3p	CLIP-seq
MIRT771460	hsa-miR-4726-5p	CLIP-seq
MIRT771461	hsa-miR-4755-5p	CLIP-seq
MIRT2471019	hsa-miR-4759	CLIP-seq
MIRT2168440	hsa-miR-4766-5p	CLIP-seq
MIRT2471020	hsa-miR-4794	CLIP-seq
MIRT771463	hsa-miR-485-5p	CLIP-seq
MIRT2471021	hsa-miR-488	CLIP-seq
MIRT2674668	hsa-miR-501-3p	CLIP-seq
MIRT2674669	hsa-miR-502-3p	CLIP-seq
MIRT2471022	hsa-miR-612	CLIP-seq
MIRT771464	hsa-miR-642a	CLIP-seq
MIRT771465	hsa-miR-648	CLIP-seq
MIRT2674670	hsa-miR-767-5p	CLIP-seq
MIRT2471023	hsa-miR-920	CLIP-seq

Show/Hide all(62)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0004176	Function	ATP-dependent peptidase activity	IEA
GO:0004222	Function	Metalloendopeptidase activity	IBA
GO:0004222	Function	Metalloendopeptidase activity	IDA	19748354, 22354088, 27642048, 28396416, 29545505, 29932645, 31327635, 37917749, 38157846
GO:0004222	Function	Metalloendopeptidase activity	IEA
GO:0005515	Function	Protein binding	IPI	14623864, 26387735, 27642048, 32814053, 35912435
GO:0005524	Function	ATP binding	IEA
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IDA	22354088
GO:0005739	Component	Mitochondrion	IEA
GO:0005739	Component	Mitochondrion	TAS	10395799
GO:0005743	Component	Mitochondrial inner membrane	IDA	37917749
GO:0005743	Component	Mitochondrial inner membrane	IEA
GO:0005743	Component	Mitochondrial inner membrane	ISS
GO:0005743	Component	Mitochondrial inner membrane	TAS	31327635
GO:0005743	Component	Mitochondrial inner membrane	TAS
GO:0005745	Component	M-AAA complex	IBA
GO:0005745	Component	M-AAA complex	IDA	19748354, 28396416, 31327635
GO:0005745	Component	M-AAA complex	IEA
GO:0006508	Process	Proteolysis	IDA	35912435
GO:0006508	Process	Proteolysis	IEA
GO:0006508	Process	Proteolysis	IMP	27642048
GO:0007005	Process	Mitochondrion organization	IEA
GO:0007409	Process	Axonogenesis	IEA
GO:0007409	Process	Axonogenesis	IMP	27642048
GO:0007528	Process	Neuromuscular junction development	IEA
GO:0008053	Process	Mitochondrial fusion	IEA
GO:0008233	Function	Peptidase activity	IEA
GO:0008237	Function	Metallopeptidase activity	IEA
GO:0008237	Function	Metallopeptidase activity	IMP	27642048
GO:0008270	Function	Zinc ion binding	IEA
GO:0016020	Component	Membrane	IEA
GO:0016485	Process	Protein processing	IEA
GO:0016485	Process	Protein processing	ISS
GO:0016540	Process	Protein autoprocessing	IEA
GO:0016540	Process	Protein autoprocessing	ISS
GO:0016787	Function	Hydrolase activity	IEA
GO:0016887	Function	ATP hydrolysis activity	IDA	19748354, 31327635
GO:0016887	Function	ATP hydrolysis activity	IEA
GO:0021675	Process	Nerve development	IEA
GO:0030163	Process	Protein catabolic process	IDA	37917749, 38157846
GO:0033619	Process	Membrane protein proteolysis	IDA	22354088
GO:0034982	Process	Mitochondrial protein processing	IBA
GO:0034982	Process	Mitochondrial protein processing	IEA
GO:0036444	Process	Calcium import into the mitochondrion	IDA	22925203, 32494073
GO:0036444	Process	Calcium import into the mitochondrion	IMP	22925203, 23755363, 27099988
GO:0036444	Process	Calcium import into the mitochondrion	IMP	27642048
GO:0040014	Process	Regulation of multicellular organism growth	IEA
GO:0042407	Process	Cristae formation	IEA
GO:0042552	Process	Myelination	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0051082	Function	Unfolded protein binding	TAS	10395799
GO:0051560	Process	Mitochondrial calcium ion homeostasis	IMP	27642048
GO:0051604	Process	Protein maturation	IDA	29932645
GO:0051604	Process	Protein maturation	IEA
GO:0055001	Process	Muscle cell development	IEA
GO:0060013	Process	Righting reflex	IEA
GO:0072753	Process	Cellular response to glutathione	IDA	37917749, 38157846
GO:0110097	Process	Regulation of calcium import into the mitochondrion	IDA	27642048, 28396416
GO:0110097	Process	Regulation of calcium import into the mitochondrion	IEA
GO:0141164	Process	Mitochondrial protein quality control	IDA	26504172, 30683687, 34718584
GO:0160007	Process	Glutathione import into mitochondrion	IDA	34707288

MIM	HGNC	e!Ensembl
604581	315	ENSG00000141385

Protein

UniProt ID

Q9Y4W6

Protein name

Mitochondrial inner membrane m-AAA protease component AFG3L2 (EC 3.4.24.-) (EC 3.6.-.-) (AFG3-like protein 2) (Paraplegin-like protein)

Protein function

Catalytic component of the m-AAA protease, a protease that plays a key role in proteostasis of inner mitochondrial membrane proteins, and which is essential for axonal and neuron development (PubMed:19748354, PubMed:28396416, PubMed:29932645, Pu

PDB

2LNA , 6NYY

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF06480	FtsH_ext	146 → 242	FtsH Extracellular	Family
PF00004	AAA	344 → 477	ATPase family associated with various cellular activities (AAA)	Domain
PF17862	AAA_lid_3	505 → 547	AAA+ lid domain	Domain
PF01434	Peptidase_M41	561 → 744	Peptidase family M41	Domain

Tissue specificity

TISSUE SPECIFICITY: Ubiquitous. Highly expressed in the cerebellar Purkinje cells. {ECO:0000269|PubMed:20208537}.

Sequence

MAHRCLRLWGRGGCWPRGLQQLLVPGGVGPGEQPCLRTLYRFVTTQARASRNSLLTDIIA
AYQRFCSRPPKGFEKYFPNGKNGKKASEPKEVMGEKKESKPAATTRSSGGGGGGGGKRGG
KKDDSHWWSRFQKGDIPWDDKDFRMFFLWTALFWGGVMFYLLLKRSGREITWKDFVNNYL
SKGVVDRLEVVNKRFVRVTFTPGKTPVDGQYVWFNIGSVDTFERNLETLQQELGIEGENR
VPVVYIAESDGSFLLSMLPTVLIIAFLLYTIRRGPAGIGRTGRGMGGLFSVGETTAKVLK
DEIDVKFKDVAGCEEAKLEIMEFVNFLKNPKQYQDLGAKIPKGAILTGPPGTGKTLLAKA
TAGEANVPFITVSGSEFLEMFVGVGPARVRDLFALARKNAPCILFIDEIDAVGRKRGRGN
FGGQSEQENTLNQLLVEMDGFNTTTNVVILAGTNRPDILDPALLRPGRFDRQIFIGPPDI
KGRASIFKVHLRPLKLDSTLEKDKLARKLASLTPGFSGADVANVCNEAALIAARHLSDSI
NQKHFEQAIERVIGGLEKKTQVLQPEEKKTVAYHEAGHAVAGWYLEHADPLLKVSIIPRG
KGLGYAQYLPKEQYLYTKEQLLDRMCMTLGGRVSEEIFFGRITTGAQDDLRKVTQSAYAQ
IVQFGMNEKVGQISFDLPRQGDMVLEKPYSEATARLIDDEVRILINDAYKRTVALLTEKK
ADVEKVALLLLEKEVLDKNDMVELLGPRPFAEKSTYEEFVEGTGSLDEDTSLPEGLKDWN
KEREKEKEEPPGEKVAN

Sequence length

797

Interactions

View interactions

	KEGG		Reactome
	Spinocerebellar ataxia		Processing of SMDT1

Show/Hide Causal Diseases (3)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Optic Atrophy	optic atrophy, Optic atrophy 12	rs1020764190	N/A
Spastic Ataxia	Spastic ataxia 5	rs387906889, rs543422544, rs727502823, rs764254189	N/A
Spinocerebellar Ataxia	spinocerebellar ataxia type 28	rs151344515, rs151344517, rs1598832526, rs151344513, rs1598820860, rs151344518, rs1598832568, rs151344520, rs151344522, rs151344519, rs151344521, rs727502823, rs151344523, rs765987297, rs151344512, rs151344514 View all (1 more)	N/A

Show/Hide Unknown Diseases (2)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Cerebellar Ataxia	Autosomal dominant cerebellar ataxia	N/A	N/A	ClinVar
Glioblastoma	Glioblastoma	N/A	N/A	GWAS

Show/Hide Text Mining Associations (20)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Amyotrophic Lateral Sclerosis	Associate	37849306
Aortic Aneurysm Familial Abdominal 1	Associate	30252181
Ataxia	Associate	20354562
Ataxia Sensory Autosomal Dominant	Associate	23777634
Basal Ganglia Diseases	Associate	32237276
Cardiovascular Diseases	Associate	31882500
Cataract Age Related Cortical 1	Associate	20354562
Dystonia Dopa responsive	Associate	30252181
Neurodegenerative Diseases	Associate	14623864, 31327635, 32600459
Optic Atrophy	Associate	30252181, 32600459
Optic Atrophy Autosomal Dominant	Associate	32219868, 32600459, 38278202
Optic Nerve Diseases	Associate	32219868
Parkinson Disease Secondary	Associate	30252181
Paroxysmal Hemicrania	Associate	32237276
Sleep Deprivation	Associate	32600459
Spastic Ataxia	Associate	30252181, 32600459
Spastic Paraplegia Hereditary	Associate	14623864, 30252181
Spinocerebellar Ataxia 11	Associate	37301203
Spinocerebellar ataxia 28	Associate	23777634, 30252181, 32219868, 32237276, 32600459
Spinocerebellar Ataxias	Associate	30252181

AFG3L2 (AFG3 like matrix AAA peptidase subunit 2)