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.	6389
Gene name Gene Name - the full gene name approved by the HGNC.	Succinate dehydrogenase complex flavoprotein subunit A
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	SDHA
Synonyms (NCBI Gene) Gene synonyms aliases	CMD1GG, FP, MC2DN1, NDAXOA, PGL5, PPGL5, SDH1, SDH2, SDHF
Chromosome Chromosome number	5
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	5p15.33
Summary Summary of gene provided in NCBI Entrez Gene.	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

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 assay, Immunohistochemistry (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

Protein

UniProt ID

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)

Show/Hide Causal Diseases (10)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Dilated Cardiomyopathy	Dilated cardiomyopathy 1GG	rs387906780, rs1554002451, rs771328239, rs1553999072, rs1735710012, rs9809219, rs752360961, rs587782077, rs137852767, rs1064793567, rs1553997617, rs1560994766, rs878854632, rs778207102, rs137852768 View all (9 more)	N/A
Gastrointestinal stromal tumor	gastrointestinal stromal tumor	rs752360961, rs151170408, rs878854632, rs751904543, rs775143272, rs387906780, rs1734957331	N/A
Hereditary Pheochromocytoma-Paraganglioma	hereditary pheochromocytoma-paraganglioma	rs747249998	N/A
leigh syndrome	Leigh syndrome	rs1553997617	N/A
Mitochondrial Complex Deficiency	Mitochondrial complex II deficiency, nuclear type 1	rs9809219, rs137852767, rs778516878, rs1061517, rs142441643, rs746165168, rs137852768, rs878854628	N/A
Paraganglioma	paragangliomas 5, Paragangliomas 1	rs771328239, rs1285132774, rs553257776, rs876658486, rs1579369969, rs1734957331, rs587782077, rs1553997340, rs1579402807, rs1554002451, rs750380279, rs1553999072, rs151170408, rs1579409293, rs1553998254 View all (35 more)	N/A
Carney Triad	carney triad	rs142441643, rs786205145	N/A
neoplasm	Neoplasm	rs553257776	N/A
Opsoclonus-myoclonus syndrome	opsoclonus-myoclonus syndrome	rs748089700	N/A
Rhabdomyosarcoma	rhabdomyosarcoma	rs750380279	N/A

Show/Hide Unknown Diseases (3)

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.
Brain Neoplasms	Neoplasm of brain	N/A	N/A	ClinVar
Cardiomyopathy	Primary dilated cardiomyopathy	N/A	N/A	ClinVar
Pheochromocytoma	pheochromocytoma	N/A	N/A	ClinVar

Show/Hide Text Mining Associations (79)

Disease Name	Relationship Type	References
Associations from Text Mining Disease 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)