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	6389
Gene name	Succinate dehydrogenase complex flavoprotein subunit A
Gene symbol	SDHA
Synonyms (NCBI Gene)	CMD1GGFPMC2DN1NDAXOAPGL5PPGL5SDH1SDH2SDHF
Chromosome	5
Chromosome location	5p15.33
Summary	This gene encodes a major catalytic subunit of succinate-ubiquinone oxidoreductase, a complex of the mitochondrial respiratory chain. The complex is composed of four nuclear-encoded subunits and is localized in the mitochondrial inner membrane. Mutations

Show/Hide all (78)

SNP ID	Visualize variation	Clinical significance	Consequence
rs9809219	C>T	Likely-pathogenic, uncertain-significance	Intron variant, missense variant, non coding transcript variant, coding sequence variant
rs137852767	C>T	Pathogenic, uncertain-significance	Missense variant, coding sequence variant, intron variant, non coding transcript variant
rs137852768	G>A	Pathogenic	Missense variant, coding sequence variant, intron variant, non coding transcript variant
rs139881415	G>A	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs142441643	C>T	Pathogenic, likely-pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs149875171	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant, non coding transcript variant
rs151170408	C>G	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs200397144	C>G,T	Likely-pathogenic, uncertain-significance	Intron variant, missense variant, coding sequence variant, non coding transcript variant
rs201068049	C>T	Likely-pathogenic, uncertain-significance	Intron variant, missense variant, coding sequence variant, non coding transcript variant
rs374087393	A>G	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs387906780	C>A,T	Likely-pathogenic, pathogenic, likely-benign	Missense variant, intron variant, synonymous variant, non coding transcript variant, coding sequence variant
rs397514541	C>G,T	Likely-pathogenic, pathogenic, uncertain-significance	Non coding transcript variant, coding sequence variant, missense variant
rs587781720	C>T	Uncertain-significance, likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs587782077	G>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs746165168	C>A,T	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained, synonymous variant
rs747249998	T>C,G	Pathogenic, likely-benign	Stop gained, intron variant, non coding transcript variant, synonymous variant, coding sequence variant
rs747939816	A>G	Uncertain-significance, likely-pathogenic	Splice acceptor variant, 3 prime UTR variant, intron variant
rs748089700	C>A,T	Pathogenic, likely-pathogenic	Non coding transcript variant, coding sequence variant, stop gained, synonymous variant
rs750865703	->T	Likely-pathogenic, uncertain-significance	Non coding transcript variant, coding sequence variant, frameshift variant
rs760710175	T>-	Likely-pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs766667009	G>T	Pathogenic, likely-pathogenic	Splice donor variant, intron variant
rs771328239	C>A,G,T	Pathogenic, uncertain-significance	Coding sequence variant, stop gained, synonymous variant, missense variant, non coding transcript variant
rs775143272	C>T	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs775827529	C>G,T	Pathogenic, uncertain-significance	Coding sequence variant, stop gained, non coding transcript variant, missense variant
rs778207102	G>T	Pathogenic, uncertain-significance	Coding sequence variant, stop gained, non coding transcript variant
rs778516878	G>T	Pathogenic, likely-pathogenic	Non coding transcript variant, splice acceptor variant
rs779151375	A>G	Likely-pathogenic, uncertain-significance	Coding sequence variant, non coding transcript variant, missense variant
rs781764920	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs786205145	C>T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs786205209	G>C	Likely-pathogenic	Coding sequence variant, intron variant, non coding transcript variant, missense variant
rs786205210	A>G	Likely-pathogenic, uncertain-significance	Coding sequence variant, non coding transcript variant, missense variant
rs876658486	T>A	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs876658637	->CA	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs876659595	G>A	Likely-pathogenic	Intron variant, non coding transcript variant, splice donor variant
rs878854627	GG>-	Likely-pathogenic, pathogenic	Coding sequence variant, non coding transcript variant, splice donor variant
rs878854628	G>C	Likely-pathogenic	Splice donor variant
rs878854632	AGC>-	Likely-pathogenic	Coding sequence variant, intron variant, non coding transcript variant, splice acceptor variant
rs886041867	C>-	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs940845256	G>A	Likely-pathogenic, uncertain-significance	Coding sequence variant, non coding transcript variant, missense variant
rs1041809852	TGCCACAGGGTAGGAATCTCATTTCT>-	Pathogenic	Splice donor variant, non coding transcript variant, intron variant, coding sequence variant
rs1057523165	G>A	Likely-pathogenic, uncertain-significance	Splice donor variant
rs1060503711	T>C,G	Likely-pathogenic, uncertain-significance	Missense variant, synonymous variant, coding sequence variant, non coding transcript variant
rs1064793567	CG>GA	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs1159597886	G>A	Likely-pathogenic	Splice acceptor variant, 3 prime UTR variant, intron variant
rs1285132774	G>A,T	Likely-pathogenic	Splice acceptor variant
rs1423978863	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs1458851277	G>C	Likely-pathogenic	Splice acceptor variant
rs1553997323	->A	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1553997340	->A	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1553997617	C>-	Pathogenic	Coding sequence variant, non coding transcript variant, intron variant, frameshift variant
rs1553997826	CCATCGGTGC>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1553998199	G>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1553998229	ACGGG>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1553998254	GT>-	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1553998606	T>-	Uncertain-significance, pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1553998613	C>-	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1553999072	T>A	Likely-pathogenic	Splice donor variant
rs1553999752	C>T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs1554000360	G>T	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs1554000378	->A	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1554001843	->A	Pathogenic	Coding sequence variant, non coding transcript variant, intron variant, frameshift variant
rs1560986132	->TTTA	Pathogenic	Coding sequence variant, non coding transcript variant, inframe indel, stop gained
rs1560989804	AT>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1560992565	C>G,T	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained, missense variant
rs1560994766	CT>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1579381753	T>A	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs1579384604	G>A,T	Likely-pathogenic	Intron variant, splice donor variant
rs1579385526	A>T	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs1579385645	C>T	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs1579386206	AG>C	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1579391225	->T	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1579402180	->G	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1579402188	GGGA>TCC	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1579402807	G>T	Likely-pathogenic	Splice donor variant
rs1579407009	C>T	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs1579409293	A>G	Likely-pathogenic	Splice acceptor variant
rs1579410180	GT>AG	Likely-pathogenic	Splice donor variant
rs1579437839	C>-	Pathogenic	Intron variant, non coding transcript variant, frameshift variant, coding sequence variant

137

Show/Hide all (137)

miRTarBase ID	miRNA	Experiments	Reference
MIRT050937	hsa-miR-17-5p	CLASH	23622248
MIRT048336	hsa-miR-106a-5p	CLASH	23622248
MIRT046836	hsa-miR-222-3p	CLASH	23622248
MIRT036723	hsa-miR-760	CLASH	23622248
MIRT734861	hsa-let-7a-5p	Luciferase reporter assayImmunohistochemistry (IHC)Immunofluorescence	33446221
MIRT1331736	hsa-miR-1206	CLIP-seq
MIRT1331737	hsa-miR-1237	CLIP-seq
MIRT1331738	hsa-miR-1248	CLIP-seq
MIRT1331739	hsa-miR-2355-5p	CLIP-seq
MIRT1331740	hsa-miR-298	CLIP-seq
MIRT1331741	hsa-miR-302a	CLIP-seq
MIRT1331742	hsa-miR-302b	CLIP-seq
MIRT1331743	hsa-miR-302c	CLIP-seq
MIRT1331744	hsa-miR-302d	CLIP-seq
MIRT1331745	hsa-miR-302e	CLIP-seq
MIRT1331746	hsa-miR-342-3p	CLIP-seq
MIRT1331747	hsa-miR-3658	CLIP-seq
MIRT1331748	hsa-miR-372	CLIP-seq
MIRT1331749	hsa-miR-373	CLIP-seq
MIRT1331750	hsa-miR-375	CLIP-seq
MIRT1331751	hsa-miR-425	CLIP-seq
MIRT1331752	hsa-miR-4287	CLIP-seq
MIRT1331753	hsa-miR-4328	CLIP-seq
MIRT1331754	hsa-miR-4457	CLIP-seq
MIRT1331755	hsa-miR-4469	CLIP-seq
MIRT1331756	hsa-miR-4475	CLIP-seq
MIRT1331757	hsa-miR-4643	CLIP-seq
MIRT1331758	hsa-miR-4685-3p	CLIP-seq
MIRT1331759	hsa-miR-4729	CLIP-seq
MIRT1331760	hsa-miR-4778-3p	CLIP-seq
MIRT1331761	hsa-miR-4789-5p	CLIP-seq
MIRT1331762	hsa-miR-4802-3p	CLIP-seq
MIRT1331763	hsa-miR-513b	CLIP-seq
MIRT1331764	hsa-miR-519a	CLIP-seq
MIRT1331765	hsa-miR-519b-3p	CLIP-seq
MIRT1331766	hsa-miR-519c-3p	CLIP-seq
MIRT1331767	hsa-miR-520a-3p	CLIP-seq
MIRT1331768	hsa-miR-520b	CLIP-seq
MIRT1331769	hsa-miR-520c-3p	CLIP-seq
MIRT1331770	hsa-miR-520d-3p	CLIP-seq
MIRT1331771	hsa-miR-520d-5p	CLIP-seq
MIRT1331772	hsa-miR-520e	CLIP-seq
MIRT1331773	hsa-miR-524-5p	CLIP-seq
MIRT1331774	hsa-miR-548ag	CLIP-seq
MIRT1331775	hsa-miR-548ai	CLIP-seq
MIRT1331776	hsa-miR-548m	CLIP-seq
MIRT1331777	hsa-miR-556-5p	CLIP-seq
MIRT1331778	hsa-miR-579	CLIP-seq
MIRT1331779	hsa-miR-610	CLIP-seq
MIRT1331780	hsa-miR-642b	CLIP-seq
MIRT1331781	hsa-miR-759	CLIP-seq
MIRT1331737	hsa-miR-1237	CLIP-seq
MIRT1331738	hsa-miR-1248	CLIP-seq
MIRT2098034	hsa-miR-1343	CLIP-seq
MIRT1331739	hsa-miR-2355-5p	CLIP-seq
MIRT2098035	hsa-miR-31	CLIP-seq
MIRT2098036	hsa-miR-3128	CLIP-seq
MIRT2098037	hsa-miR-320a	CLIP-seq
MIRT2098038	hsa-miR-320b	CLIP-seq
MIRT2098039	hsa-miR-320c	CLIP-seq
MIRT2098040	hsa-miR-320d	CLIP-seq
MIRT1331751	hsa-miR-425	CLIP-seq
MIRT1331752	hsa-miR-4287	CLIP-seq
MIRT2098041	hsa-miR-4429	CLIP-seq
MIRT1331755	hsa-miR-4469	CLIP-seq
MIRT1331757	hsa-miR-4643	CLIP-seq
MIRT1331758	hsa-miR-4685-3p	CLIP-seq
MIRT2098042	hsa-miR-4691-3p	CLIP-seq
MIRT1331760	hsa-miR-4778-3p	CLIP-seq
MIRT2098043	hsa-miR-4778-5p	CLIP-seq
MIRT1331761	hsa-miR-4789-5p	CLIP-seq
MIRT1331762	hsa-miR-4802-3p	CLIP-seq
MIRT1331771	hsa-miR-520d-5p	CLIP-seq
MIRT1331773	hsa-miR-524-5p	CLIP-seq
MIRT1331777	hsa-miR-556-5p	CLIP-seq
MIRT1331779	hsa-miR-610	CLIP-seq
MIRT1331780	hsa-miR-642b	CLIP-seq
MIRT1331781	hsa-miR-759	CLIP-seq
MIRT2322702	hsa-miR-1227	CLIP-seq
MIRT1331737	hsa-miR-1237	CLIP-seq
MIRT1331738	hsa-miR-1248	CLIP-seq
MIRT2098034	hsa-miR-1343	CLIP-seq
MIRT1331739	hsa-miR-2355-5p	CLIP-seq
MIRT1331740	hsa-miR-298	CLIP-seq
MIRT1331741	hsa-miR-302a	CLIP-seq
MIRT1331742	hsa-miR-302b	CLIP-seq
MIRT1331743	hsa-miR-302c	CLIP-seq
MIRT1331744	hsa-miR-302d	CLIP-seq
MIRT1331745	hsa-miR-302e	CLIP-seq
MIRT2098035	hsa-miR-31	CLIP-seq
MIRT2098036	hsa-miR-3128	CLIP-seq
MIRT1331748	hsa-miR-372	CLIP-seq
MIRT1331749	hsa-miR-373	CLIP-seq
MIRT1331751	hsa-miR-425	CLIP-seq
MIRT2322703	hsa-miR-4252	CLIP-seq
MIRT1331757	hsa-miR-4643	CLIP-seq
MIRT2098042	hsa-miR-4691-3p	CLIP-seq
MIRT2322704	hsa-miR-4701-5p	CLIP-seq
MIRT1331760	hsa-miR-4778-3p	CLIP-seq
MIRT1331762	hsa-miR-4802-3p	CLIP-seq
MIRT1331764	hsa-miR-519a	CLIP-seq
MIRT1331765	hsa-miR-519b-3p	CLIP-seq
MIRT1331766	hsa-miR-519c-3p	CLIP-seq
MIRT1331767	hsa-miR-520a-3p	CLIP-seq
MIRT1331768	hsa-miR-520b	CLIP-seq
MIRT1331769	hsa-miR-520c-3p	CLIP-seq
MIRT1331770	hsa-miR-520d-3p	CLIP-seq
MIRT1331772	hsa-miR-520e	CLIP-seq
MIRT1331774	hsa-miR-548ag	CLIP-seq
MIRT1331775	hsa-miR-548ai	CLIP-seq
MIRT1331776	hsa-miR-548m	CLIP-seq
MIRT1331777	hsa-miR-556-5p	CLIP-seq
MIRT2322705	hsa-miR-588	CLIP-seq
MIRT1331779	hsa-miR-610	CLIP-seq
MIRT1331780	hsa-miR-642b	CLIP-seq
MIRT1331781	hsa-miR-759	CLIP-seq
MIRT2098037	hsa-miR-320a	CLIP-seq
MIRT2098038	hsa-miR-320b	CLIP-seq
MIRT2098039	hsa-miR-320c	CLIP-seq
MIRT2098040	hsa-miR-320d	CLIP-seq
MIRT2098041	hsa-miR-4429	CLIP-seq
MIRT1331761	hsa-miR-4789-5p	CLIP-seq
MIRT1331771	hsa-miR-520d-5p	CLIP-seq
MIRT1331773	hsa-miR-524-5p	CLIP-seq
MIRT2098037	hsa-miR-320a	CLIP-seq
MIRT2098038	hsa-miR-320b	CLIP-seq
MIRT2098039	hsa-miR-320c	CLIP-seq
MIRT2098040	hsa-miR-320d	CLIP-seq
MIRT2098041	hsa-miR-4429	CLIP-seq
MIRT1331757	hsa-miR-4643	CLIP-seq
MIRT2098043	hsa-miR-4778-5p	CLIP-seq
MIRT1331761	hsa-miR-4789-5p	CLIP-seq
MIRT1331771	hsa-miR-520d-5p	CLIP-seq
MIRT1331773	hsa-miR-524-5p	CLIP-seq
MIRT1331777	hsa-miR-556-5p	CLIP-seq
MIRT1331779	hsa-miR-610	CLIP-seq
MIRT1331780	hsa-miR-642b	CLIP-seq

Show/Hide all (33)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	15961414, 19628817, 19688755, 23747254, 24606901, 26496610, 26618866, 26749241, 28330616, 28514442, 29924966, 31324722, 33961781, 35156780
GO:0005730	Component	Nucleolus	IDA
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IDA	7550341, 16826196
GO:0005739	Component	Mitochondrion	IEA
GO:0005743	Component	Mitochondrial inner membrane	IEA
GO:0005743	Component	Mitochondrial inner membrane	ISS
GO:0005743	Component	Mitochondrial inner membrane	NAS	30030361
GO:0005759	Component	Mitochondrial matrix	TAS
GO:0006099	Process	Tricarboxylic acid cycle	IEA
GO:0006099	Process	Tricarboxylic acid cycle	NAS	30030361
GO:0006099	Process	Tricarboxylic acid cycle	TAS	7550341
GO:0006105	Process	Succinate metabolic process	IDA	7550341
GO:0006121	Process	Mitochondrial electron transport, succinate to ubiquinone	IBA
GO:0006121	Process	Mitochondrial electron transport, succinate to ubiquinone	NAS	30030361
GO:0007399	Process	Nervous system development	IMP	16361598
GO:0008177	Function	Succinate dehydrogenase (quinone) activity	IBA
GO:0008177	Function	Succinate dehydrogenase (quinone) activity	IEA
GO:0008177	Function	Succinate dehydrogenase (quinone) activity	IMP	7550341
GO:0008177	Function	Succinate dehydrogenase (quinone) activity	IMP	24781757
GO:0009055	Function	Electron transfer activity	IBA
GO:0016020	Component	Membrane	IEA
GO:0016491	Function	Oxidoreductase activity	IEA
GO:0016627	Function	Oxidoreductase activity, acting on the CH-CH group of donors	IEA
GO:0022900	Process	Electron transport chain	IEA
GO:0022904	Process	Respiratory electron transport chain	IDA	7550341
GO:0042776	Process	Proton motive force-driven mitochondrial ATP synthesis	NAS	30030361
GO:0045273	Component	Respiratory chain complex II (succinate dehydrogenase)	IBA
GO:0045273	Component	Respiratory chain complex II (succinate dehydrogenase)	IDA	37098072
GO:0045273	Component	Respiratory chain complex II (succinate dehydrogenase)	ISS
GO:0045273	Component	Respiratory chain complex II (succinate dehydrogenase)	TAS	7550341
GO:0050660	Function	Flavin adenine dinucleotide binding	IBA
GO:0050660	Function	Flavin adenine dinucleotide binding	IEA

MIM	HGNC	e!Ensembl
600857	10680	ENSG00000073578

P31040

Protein name

Succinate dehydrogenase [ubiquinone] flavoprotein subunit, mitochondrial (EC 1.3.5.1) (Flavoprotein subunit of complex II) (Fp) (Malate dehydrogenase [quinone] flavoprotein subunit) (EC 1.1.5.-)

Protein function

Flavoprotein (FP) subunit of succinate dehydrogenase (SDH) that is involved in complex II of the mitochondrial electron transport chain and is responsible for transferring electrons from succinate to ubiquinone (coenzyme Q) (PubMed:10746566, Pub

PDB

6VAX , 8DYD , 8DYE , 8GS8

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00890	FAD_binding_2	63 → 457	FAD binding domain	Family
PF02910	Succ_DH_flav_C	512 → 664	Fumarate reductase flavoprotein C-term	Domain

Sequence

MSGVRGLSRLLSARRLALAKAWPTVLQTGTRGFHFTVDGNKRASAKVSDSISAQYPVVDH
EFDAVVVGAGGAGLRAAFGLSEAGFNTACVTKLFPTRSHTVAAQGGINAALGNMEEDNWR
WHFYDTVKGSDWLGDQDAIHYMTEQAPAAVVELENYGMPFSRTEDGKIYQRAFGGQSLKF
GKGGQAHRCCCVADRTGHSLLHTLYGRSLRYDTSYFVEYFALDLLMENGECRGVIALCIE
DGSIHRIRAKNTVVATGGYGRTYFSCTSAHTSTGDGTAMITRAGLPCQDLEFVQFHPTGI
YGAGCLITEGCRGEGGILINSQGERFMERYAPVAKDLASRDVVSRSMTLEIREGRGCGPE
KDHVYLQLHHLPPEQLATRLPGISETAMIFAGVDVTKEPIPVLPTVHYNMGGIPTNYKGQ
VLRHVNGQDQIVPGLYACGEAACASVHGANRLGANSLLDLVVFGRACALSIEESCRPGDK
VPPIKPNAGEESVMNLDKLRFADGSIRTSELRLSMQKSMQNHAAVFRVGSVLQEGCGKIS
KLYGDLKHLKTFDRGMVWNTDLVETLELQNLMLCALQTIYGAEARKESRGAHAREDYKVR
IDEYDYSKPIQGQQKKPFEEHWRKHTLSYVDVGTGKVTLEYRPVIDKTLNEADCATVPPA
IRSY

Sequence length

664

Interactions

View interactions

	KEGG		Reactome
	Citrate cycle (TCA cycle) Oxidative phosphorylation Metabolic pathways Carbon metabolism Thermogenesis Non-alcoholic fatty liver disease Alzheimer disease Parkinson disease Amyotrophic lateral sclerosis Huntington disease Prion disease Pathways of neurodegeneration - multiple diseases Chemical carcinogenesis - reactive oxygen species Diabetic cardiomyopathy		Citric acid cycle (TCA cycle)

8356

Show/Hide Causal Diseases (20)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Cardiac arrhythmia	Likely pathogenic	rs9809219	RCV006255129
Carney triad	Likely pathogenic	rs786205145	RCV000170329
Diffuse midline glioma, H3 K27-altered	Likely pathogenic	rs9809219	RCV003315222
Dilated cardiomyopathy 1GG	Likely pathogenic; Pathogenic	rs1735353141, rs1295239305, rs587782077, rs200397144, rs2477374565, rs781764920, rs876658637, rs766667009, rs9809219, rs137852767, rs137852768, rs878854632, rs878854627, rs752360961, rs2477316721 View all (28 more)	RCV003473911 RCV002508961 RCV003474765 RCV000765834 RCV003475330 RCV002492875 RCV004567524 RCV002500730 RCV003473060 RCV003473061 RCV000009286 RCV004567735 RCV002500781 RCV003475074 RCV003472607 RCV003472611 RCV003472623 RCV003472624 RCV003472625 RCV003472626 RCV003472627 RCV003472629 RCV002502437 RCV003473121 RCV006249377 RCV002506134 RCV003476124 RCV003476128 RCV004568113 RCV002506172 RCV003476157 RCV002491084 RCV003476303 RCV003476302 RCV003476301 RCV003476304 RCV003476321 RCV003476323 RCV003472044 RCV004569343 RCV002501099 RCV002497343 RCV003473567 RCV002497742 RCV002480754
Gastrointestinal stromal tumor	Pathogenic; Likely pathogenic	rs2126549741, rs151170408, rs878854632, rs752360961, rs2477349696, rs387906780, rs775143272, rs751904543, rs1734957331, rs1734890180	RCV001799813 RCV001799638 RCV001799643 RCV001799642 RCV003329095 RCV001799611 RCV001799694 RCV001799703 RCV001799730 RCV003483794
Hepatocellular carcinoma	Likely pathogenic	rs2126568833	RCV005868518
Hereditary cancer-predisposing syndrome	Likely pathogenic; Pathogenic	rs1735353141, rs940845256, rs2126633124, rs1734829878, rs1385076821, rs2126542910, rs778737664, rs1173940446, rs1295239305, rs2126549741, rs2126546657, rs2126585710, rs1307665893, rs878854631, rs2126543272 View all (112 more)	RCV004037634 RCV002413906 RCV002404895 RCV002420861 RCV006287435 RCV002456598 RCV002329405 RCV002350731 RCV002357289 RCV002343850 RCV002259153 RCV004946779 RCV002361297 RCV003303493 RCV002256871 RCV003167128 RCV000130573 RCV000163558 RCV003340474 RCV002320605 RCV002320611 RCV002357983 RCV002366535 RCV002371170 RCV002398383 RCV002401394 RCV002387775 RCV002391669 RCV002389756 RCV002401223 RCV002414754 RCV002415257 RCV002380601 RCV002406155 RCV002412962 RCV002415074 RCV002408375 RCV003340601 RCV004073222 RCV000575496 RCV000216352 RCV000221025 RCV000221764 RCV000218973 RCV000215067 RCV000573113 RCV002399314 RCV002415407 RCV000567727 RCV002338730 RCV000567631 RCV000567345 RCV001013022 RCV003177566 RCV003177580 RCV003177581 RCV003214791 RCV003298335 RCV003310439 RCV003278321 RCV003278322 RCV003278324 RCV003278326 RCV003311075 RCV003311076 RCV003339144 RCV003339151 RCV003369177 RCV005273690 RCV004949089 RCV004661776 RCV006292472 RCV004516473 RCV004516474 RCV004516484 RCV004516496 RCV004516511 RCV004516520 RCV004950821 RCV004661839 RCV002418229 RCV000566844 RCV000564186 RCV001017951 RCV002393168 RCV001026811 RCV004948339 RCV001019810 RCV002438178 RCV000575106 RCV000566076 RCV000566587 RCV002256388 RCV000569896 RCV000570222 RCV001021144 RCV000560981 RCV000572546 RCV000575535 RCV000565006 RCV000574361 RCV000568850 RCV000563934 RCV004948456 RCV002413782 RCV004025784 RCV004025780 RCV001025088 RCV005638518 RCV002440542 RCV004948603 RCV002386222 RCV002397443 RCV002442539 RCV002390625 RCV003166289 RCV002406799 RCV003307557 RCV001013115 RCV001016312 RCV001018677 RCV001023147 RCV001025803 RCV001019364 RCV001022698 RCV001022699 RCV001011550 RCV005732249 RCV002451264 RCV002436649 RCV002363550 RCV004031999 RCV004671266 RCV005268944 RCV005269006 RCV005732329 RCV005732335 RCV002402720
Hereditary pheochromocytoma and paraganglioma	Likely pathogenic; Pathogenic	rs2477455174, rs748089700, rs747249998, rs1734890180	RCV004018229 RCV004017601 RCV001535631 RCV003483794
Leigh syndrome	Likely pathogenic; Pathogenic	rs200397144, rs9809219, rs1553997617	RCV000765834 RCV000790927 RCV005367399
Lung cancer	Pathogenic	rs1392860800	RCV005939149
Mitochondrial complex II deficiency, nuclear type 1	Pathogenic; Likely pathogenic	rs2126549179, rs1735353141, rs940845256, rs2126633124, rs1734829878, rs1385076821, rs2126542910, rs778737664, rs1173940446, rs1295239305, rs2126578081, rs2126546657, rs2126585710, rs2126631964, rs2126602655 View all (149 more)	RCV001379214 RCV001378546 RCV001377775 RCV001379935 RCV001385763 RCV001389282 RCV001381899 RCV001383931 RCV001384161 RCV001383279 RCV001381070 RCV001931700 RCV001893983 RCV001924318 RCV001969975 RCV001917391 RCV001935112 RCV002018663 RCV002037896 RCV002002449 RCV001993135 RCV001877276 RCV001866474 RCV001962939 RCV001995700 RCV002037154 RCV001946937 RCV002048798 RCV001958646 RCV001956414 RCV001899180 RCV001956560 RCV001930243 RCV000527052 RCV000464783 RCV003097776 RCV003098098 RCV005227647 RCV003095123 RCV003095236 RCV003097158 RCV003070967 RCV003077360 RCV003086856 RCV002628429 RCV002651872 RCV002796547 RCV002791318 RCV000684793 RCV002834957 RCV002851247 RCV002881583 RCV002877619 RCV002885195 RCV002966537 RCV003015540 RCV003046279 RCV003035160 RCV003054135 RCV002518274 RCV000798190 RCV000810033 RCV000466792 RCV001071130 RCV000009281 RCV000009282 RCV000009283 RCV000009284 RCV000230468 RCV000231881 RCV000232152 RCV000228421 RCV000230417 RCV000227812 RCV003779566 RCV003779714 RCV003765582 RCV003777136 RCV003777423 RCV003779109 RCV003779110 RCV005216113 RCV003798053 RCV003783221 RCV003781726 RCV003789791 RCV003779416 RCV003792403 RCV003804395 RCV003803353 RCV003800937 RCV003800938 RCV003800981 RCV003795062 RCV003808947 RCV003807196 RCV003801944 RCV003813492 RCV003812517 RCV003810561 RCV003802524 RCV003802527 RCV005220927 RCV005216268 RCV001041479 RCV000684799 RCV000554026 RCV000462474 RCV000456955 RCV000460623 RCV000457642 RCV000462116 RCV000649438 RCV000800769 RCV001046092 RCV000551986 RCV000555437 RCV000538564 RCV000525989 RCV000558917 RCV000539370 RCV000530189 RCV001859971 RCV000810235 RCV000702668 RCV000692849 RCV001203781 RCV001381444 RCV001855336 RCV000649431 RCV000649408 RCV000649430 RCV000649416 RCV000649407 RCV001069584 RCV000706101 RCV000696009 RCV000697696 RCV000700223 RCV000698951 RCV000706931 RCV000691877 RCV000690156 RCV000797937 RCV000810724 RCV000823267 RCV000818060 RCV000813707 RCV000792416 RCV000809642 RCV000810130 RCV000807030 RCV000822495 RCV000853252 RCV001221035 RCV001383484 RCV005225209 RCV001204959 RCV003769564 RCV005213435 RCV001037616 RCV001037508 RCV001062355 RCV001063216 RCV001063568 RCV001061275 RCV001041854 RCV001050872 RCV001055477 RCV001036409 RCV001211082 RCV001223903 RCV001218717 RCV001218027 RCV001205972 RCV001236314 RCV001228059 RCV001234597 RCV001240188 RCV001229903
Neurodegeneration with ataxia and late-onset optic atrophy	Likely pathogenic; Pathogenic	rs940845256, rs1295239305, rs587782077, rs200397144, rs781764920, rs766667009, rs9809219, rs1061517, rs878854627, rs748089700, rs1041809852, rs750380279, rs1553998199, rs778207102, rs1579437839, rs1579384604, rs1734988578 View all (2 more)	RCV001836652 RCV002508961 RCV005417969 RCV001824123 RCV002492875 RCV002500730 RCV005031432 RCV003234897 RCV002500781 RCV005238960 RCV002502437 RCV002506134 RCV002506172 RCV002491084 RCV004586787 RCV002501099 RCV002271609 RCV002497742 RCV002480754
Opsoclonus-myoclonus syndrome	Likely pathogenic; Pathogenic	rs748089700	RCV002285327
Ovarian serous cystadenocarcinoma	Likely pathogenic	rs1553999072, rs878854628	RCV005934938 RCV005934939
Paraganglioma	Likely pathogenic; Pathogenic	rs878854627	RCV001253762
Pheochromocytoma	Likely pathogenic; Pathogenic	rs878854627	RCV001253762
Pheochromocytoma/paraganglioma syndrome 1	Likely pathogenic; Pathogenic	rs752360961	RCV004546463
Pheochromocytoma/paraganglioma syndrome 5	Pathogenic; Likely pathogenic	rs2126549179, rs1735353141, rs940845256, rs2126633124, rs1734829878, rs1385076821, rs2126542910, rs778737664, rs1173940446, rs1295239305, rs2126578081, rs2126546657, rs2126585710, rs2126631964, rs2126602655 View all (174 more)	RCV001379214 RCV001378546 RCV001377775 RCV001379935 RCV001385763 RCV001389282 RCV001381899 RCV001383931 RCV001384161 RCV001383279 RCV001381070 RCV001931700 RCV001893983 RCV001924318 RCV001969975 RCV001917391 RCV001935112 RCV002018663 RCV002037896 RCV002002449 RCV001993135 RCV001877276 RCV001866474 RCV001962939 RCV001995700 RCV002037154 RCV001946937 RCV002048798 RCV001958646 RCV001956414 RCV001899180 RCV001956560 RCV001930243 RCV000527052 RCV000148027 RCV002289321 RCV003098098 RCV005227647 RCV004056569 RCV004061223 RCV003095123 RCV003095236 RCV003097158 RCV003070967 RCV003077360 RCV003086856 RCV002628429 RCV002651872 RCV002796547 RCV002791318 RCV000191050 RCV002834957 RCV002851247 RCV002881583 RCV002877619 RCV002885195 RCV002966537 RCV003015540 RCV003046279 RCV003035160 RCV003054135 RCV002518274 RCV000798190 RCV000810033 RCV000466792 RCV001071130 RCV000456631 RCV000649458 RCV001233940 RCV001221088 RCV000230468 RCV000231881 RCV000232152 RCV000228421 RCV000230417 RCV000227812 RCV003149094 RCV003149095 RCV003149097 RCV003779566 RCV003779714 RCV003765582 RCV003777136 RCV004790534 RCV003316921 RCV003317010 RCV003337177 RCV005621248 RCV003779109 RCV004786945 RCV003779110 RCV003456337 RCV003456339 RCV003456340 RCV003456341 RCV003456344 RCV003456345 RCV003456346 RCV003452617 RCV003798053 RCV003783221 RCV003781726 RCV003789791 RCV003779416 RCV003792403 RCV003804395 RCV003803353 RCV003800937 RCV003800938 RCV003800981 RCV003795062 RCV003808947 RCV003807196 RCV003801944 RCV003813492 RCV003812517 RCV003810561 RCV003802524 RCV003802527 RCV004442427 RCV004442526 RCV004442532 RCV004442536 RCV004442598 RCV005220927 RCV004589347 RCV004589362 RCV000410820 RCV000411416 RCV000023042 RCV000462474 RCV000456955 RCV000460623 RCV000457642 RCV000462116 RCV000649438 RCV000800769 RCV001046092 RCV000551986 RCV000555437 RCV000538564 RCV000525989 RCV000558917 RCV000539370 RCV000530189 RCV001859971 RCV000810235 RCV000702668 RCV000692849 RCV001203781 RCV004787914 RCV000576361 RCV001855336 RCV000649431 RCV000649408 RCV000649430 RCV000649416 RCV000649407 RCV001069584 RCV000662833 RCV000706101 RCV000696009 RCV000697696 RCV000700223 RCV000698951 RCV000706931 RCV000691877 RCV000690156 RCV000797937 RCV000810724 RCV000823267 RCV000818060 RCV000813707 RCV000792416 RCV000809642 RCV000810130 RCV000807030 RCV000822495 RCV001379066 RCV001221035 RCV001383484 RCV005225209 RCV001537861 RCV001204959 RCV003769564 RCV005213435 RCV001037616 RCV001037508 RCV001062355 RCV001063216 RCV001063568 RCV001061275 RCV001041854 RCV001050872 RCV001055477 RCV001036409 RCV001211082 RCV001223903 RCV001218717 RCV001218027 RCV001205972 RCV001236314 RCV001228059 RCV001234597 RCV001240188 RCV001229903
Rhabdomyosarcoma	Likely pathogenic; Pathogenic	rs750380279	RCV001257552
SDHA-related disorder	Pathogenic; Likely pathogenic	rs878854631, rs587782077, rs9809219, rs1734986168, rs1064793567, rs1553998199, rs778207102, rs1553997617, rs751904543	RCV005924357 RCV004734674 RCV005417425 RCV004542276 RCV004529607 RCV004735621 RCV000779471 RCV004538051 RCV004735755

Show/Hide Unknown Diseases (38)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Conflicting classifications of pathogenicity; Benign	rs138277996, rs10057677	RCV005907025 RCV005912348
B-lymphoblastic leukemia/lymphoma with hypodiploidy	Uncertain significance	rs377620054	RCV000761150
Cervical cancer	Conflicting classifications of pathogenicity	rs138277996	RCV005907027
Childhood neoplasm	Uncertain significance	rs754893758	RCV005621992
Cholangiocarcinoma	Benign	rs10057677	RCV005912352
Clear cell carcinoma of kidney	Conflicting classifications of pathogenicity	rs34771391, rs61733344, rs138277996	RCV005893856 RCV005891074 RCV005907028
Colon adenocarcinoma	Conflicting classifications of pathogenicity	rs34771391	RCV005893853
Colorectal cancer	Conflicting classifications of pathogenicity; Uncertain significance	rs1057523165, rs765611464	RCV005898066 RCV005899509
Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype	Conflicting classifications of pathogenicity	rs377470390	RCV003313064
Dystonia, early-onset, and/or spastic paraplegia	Uncertain significance	rs768328967	RCV005622057
Familial cancer of breast	Conflicting classifications of pathogenicity	rs372662724	RCV005869360
Gastric cancer	Conflicting classifications of pathogenicity; Uncertain significance; Benign	rs142849100, rs34771391, rs61733344, rs769785624, rs10057677	RCV005886903 RCV005893858 RCV005891076 RCV005934882 RCV005912350
Hereditary renal cell carcinoma	Conflicting classifications of pathogenicity	rs140736646	RCV000678682
Incidental Discovery	Uncertain significance	rs1324014370	RCV005235427
Inherited phaeochromocytoma and paraganglioma excluding NF1	Conflicting classifications of pathogenicity	rs142441643	RCV005865243
Intellectual disability	Conflicting classifications of pathogenicity	rs142441643, rs201068049	RCV005625311 RCV005625466
Malignant lymphoma, large B-cell, diffuse	Benign	rs10057677	RCV005912349
Malignant tumor of esophagus	Uncertain significance; Conflicting classifications of pathogenicity	rs1735568346, rs372662724	RCV005911048 RCV005869362
Melanoma	-; Conflicting classifications of pathogenicity	rs1579402807, rs61733344	RCV005925725 RCV005891079
Multiple endocrine neoplasia type 2A	Uncertain significance	rs542980860	RCV003328100
Neoplasm	Conflicting classifications of pathogenicity; Uncertain significance	rs587782076, rs553257776, rs1424809160	RCV006273547 RCV004669041 RCV006273963
Neoplasm of brain	Conflicting classifications of pathogenicity	rs587781720	RCV004719709
Nonpapillary renal cell carcinoma	Conflicting classifications of pathogenicity; Uncertain significance	rs34771391, rs138277996, rs6555055	RCV005893855 RCV005907026 RCV005912474
Ovarian cancer	Conflicting classifications of pathogenicity	rs372662724	RCV005869363
Pheochromocytoma/paraganglioma syndrome 4	Uncertain significance	rs1324014370	RCV004527389
Pilocytic astrocytoma	Conflicting classifications of pathogenicity	rs142441643	RCV000722034
Primary dilated cardiomyopathy	Uncertain significance	rs768055345	RCV003451191
Pulmonary artery atresia	Uncertain significance	rs201741295, rs201139275	RCV002512178 RCV002512120
Sarcoma	Conflicting classifications of pathogenicity	rs34771391, rs201068049, rs61733344, rs200021115	RCV005893857 RCV005895282 RCV005891075 RCV005900644
See cases	Uncertain significance	rs367621815	RCV002252166
Sick sinus syndrome 2, autosomal dominant	Likely benign; Uncertain significance	rs768276870, rs373509391	RCV005860044 RCV005860104
Skeletal myopathy	Conflicting classifications of pathogenicity	rs367721665	RCV000208222
Squamous cell carcinoma of the head and neck	Conflicting classifications of pathogenicity	rs138277996	RCV005907024
Squamous cell lung carcinoma	Conflicting classifications of pathogenicity	rs372662724	RCV005869361
Thymoma	Conflicting classifications of pathogenicity	rs34771391	RCV005893860
Thyroid cancer, nonmedullary, 1	Conflicting classifications of pathogenicity; Uncertain significance	rs34771391, rs6555055	RCV005893861 RCV005912476
Uterine carcinosarcoma	Conflicting classifications of pathogenicity; Benign	rs61733344, rs10057677	RCV005891078 RCV005912351
Uterine corpus endometrial carcinoma	Conflicting classifications of pathogenicity	rs34771391, rs61733344, rs200021115	RCV005893863 RCV005891080 RCV005900645

Show/Hide Text Mining Associations (79)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Abdominal Injuries	Associate	20484225
Adenoma Oxyphilic	Associate	31299266
Adenomatous Polyposis Coli	Associate	32099073
Alzheimer Disease	Associate	36551187
Anxiety	Associate	35260474
Astrocytoma	Associate	30259794
Ataxia	Associate	33960148
Bicuspid Aortic Valve Disease	Associate	27727313
Brain Diseases	Associate	11404820
Breast Neoplasms	Associate	27587393
Calcinosis Cutis	Associate	23612575
Carcinogenesis	Associate	25048361
Carcinoma Ductal	Associate	25053597
Carcinoma Hepatocellular	Associate	19036168, 24203292, 36308411
Carcinoma Lobular	Associate	25053597
Carcinoma Renal Cell	Associate	18072593, 24625421, 26722403, 28029662, 29978187, 30680959, 34014604
Cardiomyopathies	Associate	22972948, 33960148
Cardiomyopathy Dilated	Associate	20551992
Carney Triad	Associate	22948025, 22974104
Carotid Body Tumor	Associate	32971818
Cerebellar Diseases	Associate	33960148
Cluster Headache	Associate	27659016
Colonic Diseases	Associate	30068732
Colorectal Neoplasms	Associate	32424999
Cytokine Release Syndrome	Associate	33803845
Depressive Disorder Major	Associate	35821008
Developmental Disabilities	Associate	33960148
Early onset ataxia with oculomotor apraxia and hypoalbuminemia	Associate	25976310
Gastrointestinal Stromal Tumors	Associate	22955521, 22974104, 23109135, 23174939, 23282968, 23612575, 23743927, 24625421, 25188872, 25239601, 26415883, 26722403, 30068732, 31124195, 31570771, 33854214, 33960148, 35260474 View all (3 more)
Genee Wiedemann syndrome	Associate	40243416
Glycosuria Renal	Associate	30068732
Head and Neck Neoplasms	Associate	33397043
Heart Diseases	Associate	35748249
Heredodegenerative Disorders Nervous System	Associate	33960148
Huntington Disease	Associate	36551187
Hypoxia	Associate	20484225
Immunologic Deficiency Syndromes	Associate	24625421, 25188872
Inflammation	Associate	33803845
Inflammatory Bowel Diseases	Associate	32424999
Islet cell tumor syndrome	Associate	30068732
Leigh Disease	Associate	16288654, 16361598, 20551992, 22972948, 24781757, 33960148
Leukemia Lymphocytic Chronic B Cell	Associate	30038380
Leukemia Myeloid Acute	Associate	35463978
Leukodystrophy Metachromatic	Associate	22972948, 24781757
Lymphoma Large B Cell Diffuse	Associate	40186663
Melanoma	Associate	30068732
Mitochondrial Complex II Deficiency	Associate	22955521, 22972948, 23743927, 24781757, 25188872, 30680959, 31124195, 31308404
Mitochondrial Complex III Deficiency	Associate	33960148
Mitochondrial Diseases	Associate	24781757, 33960148, 34012134
Monosomy	Stimulate	31596927
Muscle Hypotonia	Associate	22972948, 33960148
Myotonic Dystrophy	Associate	34462518
Neoplasm Metastasis	Associate	23282968
Neoplasms	Associate	16288654, 20484225, 22955521, 23282968, 23612575, 24694336, 24854530, 26173966, 27011036, 28029662, 28878254, 30068732, 31124195, 33960148, 34014604 View all (5 more)
Neoplastic Syndromes Hereditary	Associate	28099933
Neuroblastoma	Associate	15681479, 30068732
Neurodegenerative Diseases	Associate	36551187
Neuroendocrine Tumors	Associate	36301191
Neuroinflammatory Diseases	Associate	33803845
Nystagmus Pathologic	Associate	33960148
Optic Atrophy	Associate	16288654
Pancreatic Neoplasms	Associate	39256447
Paraganglioma	Associate	16288654, 20484225, 22955521, 23174939, 23778871, 24466223, 24781757, 27659016, 28122379, 33031286, 33397043, 33960148, 35260474, 40235160
Paraganglioma Extra Adrenal	Associate	28384794
Parkinson Disease	Associate	32210219, 36551187
Pheochromocytoma	Associate	16288654, 20484225, 23174939, 24466223, 24625421, 24694336, 24781757, 25720320, 26173966, 28099933, 28384794, 33397040, 33397043, 33960148
Pituitary Neoplasms	Associate	25494863
Prolactinoma	Associate	24625421
Prostatic Neoplasms	Associate	24837709
Prostatitis	Associate	30068732
Sarcoma	Associate	28878254
Small Cell Lung Carcinoma	Associate	38237798
Spinocerebellar Degenerations	Associate	24781757
Squamous Cell Carcinoma of Head and Neck	Associate	25048361, 40141095
Thyroid Neoplasms	Associate	19893615
Tremor	Associate	33960148
Uterine Cervical Neoplasms	Associate	18559093
Uveal melanoma	Associate	31596927
Wilms Tumor	Associate	22974104

SDHA (succinate dehydrogenase complex flavoprotein subunit A)