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.	6392
Gene name Gene Name - the full gene name approved by the HGNC.	Succinate dehydrogenase complex subunit D
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	SDHD
Synonyms (NCBI Gene) Gene synonyms aliases	CBT1, CII-4, CWS3, MC2DN3, PGL, PGL1, PPGL1, QPs3, SDH4, cybS
Chromosome Chromosome number	11
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	11q23.1
Summary Summary of gene provided in NCBI Entrez Gene.	This gene encodes a member of complex II of the respiratory chain, which is responsible for the oxidation of succinate. The encoded protein is one of two integral membrane proteins anchoring the complex to the matrix side of the mitochondrial inner membra

Show/Hide all(44)

SNP ID	Visualize variation	Clinical significance	Consequence
rs80338844	C>T	Pathogenic	Missense variant, non coding transcript variant, intron variant, coding sequence variant
rs80338845	G>T	Pathogenic	Missense variant, non coding transcript variant, intron variant, coding sequence variant
rs80338846	T>C	Pathogenic	Missense variant, non coding transcript variant, intron variant, coding sequence variant
rs80338847	T>C,G	Pathogenic, uncertain-significance	Missense variant, non coding transcript variant, coding sequence variant, 3 prime UTR variant
rs104894302	A>G,T	Uncertain-significance, pathogenic, likely-pathogenic	Missense variant, non coding transcript variant, intron variant, coding sequence variant
rs104894304	A>G	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant, 3 prime UTR variant
rs121908983	ATT>-,ATTATT	Likely-pathogenic, pathogenic	Coding sequence variant, intron variant, inframe deletion, inframe insertion, non coding transcript variant
rs201372601	G>A,T	Uncertain-significance, pathogenic, likely-pathogenic, likely-benign	3 prime UTR variant, non coding transcript variant, stop lost, terminator codon variant, synonymous variant
rs202198133	G>A	Uncertain-significance, pathogenic, likely-pathogenic	Non coding transcript variant, coding sequence variant, intron variant, missense variant
rs387906358	TC>-	Pathogenic	Coding sequence variant, frameshift variant, intron variant, non coding transcript variant
rs587776645	->T	Pathogenic	Coding sequence variant, non coding transcript variant, 3 prime UTR variant, frameshift variant
rs587776646	G>-	Pathogenic	Coding sequence variant, non coding transcript variant, 3 prime UTR variant, frameshift variant
rs587776647	A>-	Pathogenic	Coding sequence variant, non coding transcript variant, 3 prime UTR variant, frameshift variant
rs587776648	GACT>-	Pathogenic	Coding sequence variant, non coding transcript variant, 3 prime UTR variant, frameshift variant
rs755047928	G>A,C,T	Pathogenic, uncertain-significance, likely-pathogenic	Intron variant, missense variant, coding sequence variant, non coding transcript variant
rs786202403	C>A	Pathogenic, uncertain-significance	Missense variant, non coding transcript variant, coding sequence variant, intron variant
rs786203067	ACTC>-	Pathogenic, likely-pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant, intron variant
rs786203932	G>A	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant, 3 prime UTR variant
rs786205436	A>G,T	Pathogenic, uncertain-significance, likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant, intron variant
rs864321644	T>-	Likely-pathogenic	Frameshift variant, non coding transcript variant, 3 prime UTR variant, coding sequence variant
rs876658477	T>G	Likely-pathogenic	Missense variant, non coding transcript variant, 3 prime UTR variant, coding sequence variant
rs876659276	T>A,C	Uncertain-significance, likely-pathogenic	Synonymous variant, missense variant, coding sequence variant, non coding transcript variant, 3 prime UTR variant
rs878854590	G>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant, intron variant
rs878854591	C>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant, intron variant
rs878854594	C>T	Pathogenic	Synonymous variant, stop gained, coding sequence variant, non coding transcript variant, 3 prime UTR variant
rs1050032491	T>A,C	Likely-benign, pathogenic	3 prime UTR variant, synonymous variant, non coding transcript variant, missense variant, stop gained, coding sequence variant
rs1060503769	G>A	Pathogenic	Non coding transcript variant, 3 prime UTR variant, stop gained, coding sequence variant
rs1060503770	C>G,T	Pathogenic	3 prime UTR variant, synonymous variant, non coding transcript variant, missense variant, stop gained, coding sequence variant
rs1060503773	T>-	Pathogenic, likely-pathogenic	Non coding transcript variant, 3 prime UTR variant, coding sequence variant, frameshift variant
rs1131691063	->G	Pathogenic	Non coding transcript variant, 3 prime UTR variant, coding sequence variant, frameshift variant
rs1131691064	G>-	Pathogenic	Non coding transcript variant, 3 prime UTR variant, coding sequence variant, frameshift variant
rs1131691065	G>A	Pathogenic	Non coding transcript variant, intron variant, stop gained, coding sequence variant
rs1306475361	G>T	Pathogenic	Splice acceptor variant, intron variant
rs1555186992	TGT>-	Likely-pathogenic	Coding sequence variant, non coding transcript variant, inframe deletion, intron variant
rs1555187067	A>-	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant, intron variant
rs1555187083	G>A,T	Pathogenic, likely-pathogenic	Splice donor variant, intron variant
rs1555187566	G>A	Likely-pathogenic	Splice acceptor variant
rs1555187570	GGGCCTTGGACAAGTTGTTACTGACTATGTTCATGGGGATGCCTTGCAGAAAGCTGCCAAGGCAGGGCTTTTGGCACTTTCAGCTTTAACCTTTGCTGGGCTTTGCTATTTCAACTATCACGATGTGGGCATCTGCAAAGCTGTTGCCATGCTGTGGAAGCTCTGA>-	Pathogenic	Terminator codon variant, non coding transcript variant, frameshift variant, 3 prime UTR variant
rs1555187574	G>T	Uncertain-significance, pathogenic, likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant, 3 prime UTR variant
rs1555187583	->T	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant, frameshift variant, 3 prime UTR variant
rs1555187601	G>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant, 3 prime UTR variant
rs1555187635	GC>TT	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant, 3 prime UTR variant
rs1566702771	T>-	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant, 3 prime UTR variant
rs1592786159	AA>-	Likely-pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant, 3 prime UTR variant

Show/Hide all(193)

miRTarBase ID	miRNA	Experiments	Reference
MIRT054099	hsa-miR-210-3p	Luciferase reporter assay	23492775
MIRT054099	hsa-miR-210-3p	Luciferase reporter assay, Microarray, qRT-PCR, Western blot	23028679
MIRT054218	hsa-miR-147b	Luciferase reporter assay, Microarray, qRT-PCR, Western blot	23028679
MIRT699812	hsa-miR-3138	HITS-CLIP	23313552
MIRT699811	hsa-miR-4800-5p	HITS-CLIP	23313552
MIRT699810	hsa-miR-6833-5p	HITS-CLIP	23313552
MIRT699809	hsa-miR-4752	HITS-CLIP	23313552
MIRT699808	hsa-miR-6083	HITS-CLIP	23313552
MIRT543328	hsa-miR-4517	PAR-CLIP	21572407
MIRT543327	hsa-miR-5583-3p	PAR-CLIP	21572407
MIRT543326	hsa-miR-5680	PAR-CLIP	21572407
MIRT543325	hsa-miR-3159	PAR-CLIP	21572407
MIRT543324	hsa-miR-369-3p	PAR-CLIP	21572407
MIRT543323	hsa-miR-5692b	PAR-CLIP	21572407
MIRT543322	hsa-miR-5692c	PAR-CLIP	21572407
MIRT543321	hsa-miR-556-5p	PAR-CLIP	21572407
MIRT543320	hsa-miR-610	PAR-CLIP	21572407
MIRT543319	hsa-miR-374a-5p	PAR-CLIP	21572407
MIRT543318	hsa-miR-374b-5p	PAR-CLIP	21572407
MIRT543316	hsa-miR-5571-3p	PAR-CLIP	21572407
MIRT543317	hsa-miR-7975	PAR-CLIP	21572407
MIRT543315	hsa-miR-384	PAR-CLIP	21572407
MIRT543314	hsa-miR-6875-3p	PAR-CLIP	21572407
MIRT468709	hsa-miR-130a-5p	PAR-CLIP	23592263
MIRT468708	hsa-miR-23b-3p	PAR-CLIP	23592263
MIRT468707	hsa-miR-23c	PAR-CLIP	23592263
MIRT468706	hsa-miR-23a-3p	PAR-CLIP	23592263
MIRT468704	hsa-miR-4289	PAR-CLIP	23592263
MIRT468705	hsa-miR-1250-3p	PAR-CLIP	23592263
MIRT054218	hsa-miR-147b	PAR-CLIP	23592263
MIRT054099	hsa-miR-210-3p	PAR-CLIP	23592263
MIRT468703	hsa-miR-1303	PAR-CLIP	23592263
MIRT468702	hsa-miR-5096	PAR-CLIP	23592263
MIRT054218	hsa-miR-147b	Immunofluorescence, Luciferase reporter assay, Microarray, RNA-seq, qRT-PCR, Western blotting	31535082
MIRT699812	hsa-miR-3138	HITS-CLIP	23313552
MIRT699811	hsa-miR-4800-5p	HITS-CLIP	23313552
MIRT699810	hsa-miR-6833-5p	HITS-CLIP	23313552
MIRT699809	hsa-miR-4752	HITS-CLIP	23313552
MIRT699808	hsa-miR-6083	HITS-CLIP	23313552
MIRT543328	hsa-miR-4517	PAR-CLIP	21572407
MIRT543327	hsa-miR-5583-3p	PAR-CLIP	21572407
MIRT543326	hsa-miR-5680	PAR-CLIP	21572407
MIRT543325	hsa-miR-3159	PAR-CLIP	21572407
MIRT543324	hsa-miR-369-3p	PAR-CLIP	21572407
MIRT543323	hsa-miR-5692b	PAR-CLIP	21572407
MIRT543322	hsa-miR-5692c	PAR-CLIP	21572407
MIRT543321	hsa-miR-556-5p	PAR-CLIP	21572407
MIRT543320	hsa-miR-610	PAR-CLIP	21572407
MIRT543319	hsa-miR-374a-5p	PAR-CLIP	21572407
MIRT543318	hsa-miR-374b-5p	PAR-CLIP	21572407
MIRT543316	hsa-miR-5571-3p	PAR-CLIP	21572407
MIRT543317	hsa-miR-7975	PAR-CLIP	21572407
MIRT543315	hsa-miR-384	PAR-CLIP	21572407
MIRT543314	hsa-miR-6875-3p	PAR-CLIP	21572407
MIRT468709	hsa-miR-130a-5p	PAR-CLIP	23592263
MIRT468708	hsa-miR-23b-3p	PAR-CLIP	23592263
MIRT468707	hsa-miR-23c	PAR-CLIP	23592263
MIRT468706	hsa-miR-23a-3p	PAR-CLIP	23592263
MIRT468704	hsa-miR-4289	PAR-CLIP	23592263
MIRT468705	hsa-miR-1250-3p	PAR-CLIP	23592263
MIRT054218	hsa-miR-147b	PAR-CLIP	23592263
MIRT054099	hsa-miR-210-3p	PAR-CLIP	23592263
MIRT468703	hsa-miR-1303	PAR-CLIP	23592263
MIRT468702	hsa-miR-5096	PAR-CLIP	23592263
MIRT1331894	hsa-miR-1238	CLIP-seq
MIRT1331895	hsa-miR-141	CLIP-seq
MIRT1331896	hsa-miR-200a	CLIP-seq
MIRT1331897	hsa-miR-23a	CLIP-seq
MIRT1331898	hsa-miR-23b	CLIP-seq
MIRT1331899	hsa-miR-2467-3p	CLIP-seq
MIRT1331900	hsa-miR-3183	CLIP-seq
MIRT1331901	hsa-miR-330-3p	CLIP-seq
MIRT1331902	hsa-miR-3622b-5p	CLIP-seq
MIRT1331903	hsa-miR-3647-3p	CLIP-seq
MIRT1331904	hsa-miR-371-5p	CLIP-seq
MIRT1331905	hsa-miR-371b-5p	CLIP-seq
MIRT1331906	hsa-miR-376a	CLIP-seq
MIRT1331907	hsa-miR-376b	CLIP-seq
MIRT1331908	hsa-miR-4659a-3p	CLIP-seq
MIRT1331909	hsa-miR-4659b-3p	CLIP-seq
MIRT1331910	hsa-miR-4723-3p	CLIP-seq
MIRT1331911	hsa-miR-4735-5p	CLIP-seq
MIRT1331912	hsa-miR-4766-5p	CLIP-seq
MIRT1331913	hsa-miR-499-3p	CLIP-seq
MIRT1331914	hsa-miR-499a-3p	CLIP-seq
MIRT1331915	hsa-miR-581	CLIP-seq
MIRT1331916	hsa-miR-583	CLIP-seq
MIRT1331917	hsa-miR-944	CLIP-seq
MIRT1553284	hsa-miR-210	CLIP-seq
MIRT1331897	hsa-miR-23a	CLIP-seq
MIRT1331898	hsa-miR-23b	CLIP-seq
MIRT1331899	hsa-miR-2467-3p	CLIP-seq
MIRT1331901	hsa-miR-330-3p	CLIP-seq
MIRT1331902	hsa-miR-3622b-5p	CLIP-seq
MIRT2098069	hsa-miR-380	CLIP-seq
MIRT2098070	hsa-miR-4282	CLIP-seq
MIRT2098071	hsa-miR-4318	CLIP-seq
MIRT2098072	hsa-miR-4446-5p	CLIP-seq
MIRT2098073	hsa-miR-4495	CLIP-seq
MIRT1331908	hsa-miR-4659a-3p	CLIP-seq
MIRT1331909	hsa-miR-4659b-3p	CLIP-seq
MIRT2098074	hsa-miR-4677-3p	CLIP-seq
MIRT2098075	hsa-miR-4693-5p	CLIP-seq
MIRT2098076	hsa-miR-4755-5p	CLIP-seq
MIRT2098077	hsa-miR-4775	CLIP-seq
MIRT1331913	hsa-miR-499-3p	CLIP-seq
MIRT1331914	hsa-miR-499a-3p	CLIP-seq
MIRT2098078	hsa-miR-513a-3p	CLIP-seq
MIRT1331916	hsa-miR-583	CLIP-seq
MIRT2098079	hsa-miR-590-3p	CLIP-seq
MIRT2098080	hsa-miR-627	CLIP-seq
MIRT2098081	hsa-miR-892a	CLIP-seq
MIRT2098082	hsa-miR-924	CLIP-seq
MIRT2322791	hsa-miR-204	CLIP-seq
MIRT1553284	hsa-miR-210	CLIP-seq
MIRT2322792	hsa-miR-211	CLIP-seq
MIRT2322793	hsa-miR-2355-3p	CLIP-seq
MIRT1331897	hsa-miR-23a	CLIP-seq
MIRT1331898	hsa-miR-23b	CLIP-seq
MIRT1331899	hsa-miR-2467-3p	CLIP-seq
MIRT2322794	hsa-miR-3145-5p	CLIP-seq
MIRT2322795	hsa-miR-3192	CLIP-seq
MIRT2322796	hsa-miR-320e	CLIP-seq
MIRT1331901	hsa-miR-330-3p	CLIP-seq
MIRT2322797	hsa-miR-342-3p	CLIP-seq
MIRT2322798	hsa-miR-3612	CLIP-seq
MIRT1331902	hsa-miR-3622b-5p	CLIP-seq
MIRT2322799	hsa-miR-3689a-3p	CLIP-seq
MIRT2322800	hsa-miR-3689c	CLIP-seq
MIRT2322801	hsa-miR-4264	CLIP-seq
MIRT2098072	hsa-miR-4446-5p	CLIP-seq
MIRT2322802	hsa-miR-4646-3p	CLIP-seq
MIRT1331908	hsa-miR-4659a-3p	CLIP-seq
MIRT1331909	hsa-miR-4659b-3p	CLIP-seq
MIRT2322803	hsa-miR-4728-5p	CLIP-seq
MIRT2098076	hsa-miR-4755-5p	CLIP-seq
MIRT1331913	hsa-miR-499-3p	CLIP-seq
MIRT1331914	hsa-miR-499a-3p	CLIP-seq
MIRT1331916	hsa-miR-583	CLIP-seq
MIRT2322804	hsa-miR-622	CLIP-seq
MIRT2322805	hsa-miR-623	CLIP-seq
MIRT2322806	hsa-miR-650	CLIP-seq
MIRT2322807	hsa-miR-885-5p	CLIP-seq
MIRT2322794	hsa-miR-3145-5p	CLIP-seq
MIRT1331908	hsa-miR-4659a-3p	CLIP-seq
MIRT1331909	hsa-miR-4659b-3p	CLIP-seq
MIRT1331894	hsa-miR-1238	CLIP-seq
MIRT2618820	hsa-miR-1253	CLIP-seq
MIRT1331899	hsa-miR-2467-3p	CLIP-seq
MIRT1331900	hsa-miR-3183	CLIP-seq
MIRT2618821	hsa-miR-3185	CLIP-seq
MIRT1331901	hsa-miR-330-3p	CLIP-seq
MIRT2322797	hsa-miR-342-3p	CLIP-seq
MIRT2618822	hsa-miR-3613-3p	CLIP-seq
MIRT1331902	hsa-miR-3622b-5p	CLIP-seq
MIRT1331903	hsa-miR-3647-3p	CLIP-seq
MIRT1331904	hsa-miR-371-5p	CLIP-seq
MIRT1331905	hsa-miR-371b-5p	CLIP-seq
MIRT2618823	hsa-miR-3973	CLIP-seq
MIRT2322801	hsa-miR-4264	CLIP-seq
MIRT1331908	hsa-miR-4659a-3p	CLIP-seq
MIRT1331909	hsa-miR-4659b-3p	CLIP-seq
MIRT1331910	hsa-miR-4723-3p	CLIP-seq
MIRT1331912	hsa-miR-4766-5p	CLIP-seq
MIRT1331913	hsa-miR-499-3p	CLIP-seq
MIRT1331914	hsa-miR-499a-3p	CLIP-seq
MIRT2618824	hsa-miR-520g	CLIP-seq
MIRT2618825	hsa-miR-520h	CLIP-seq
MIRT2618826	hsa-miR-548l	CLIP-seq
MIRT1331915	hsa-miR-581	CLIP-seq
MIRT1331916	hsa-miR-583	CLIP-seq
MIRT2322804	hsa-miR-622	CLIP-seq
MIRT1331894	hsa-miR-1238	CLIP-seq
MIRT2618820	hsa-miR-1253	CLIP-seq
MIRT1331899	hsa-miR-2467-3p	CLIP-seq
MIRT2618821	hsa-miR-3185	CLIP-seq
MIRT1331901	hsa-miR-330-3p	CLIP-seq
MIRT2322797	hsa-miR-342-3p	CLIP-seq
MIRT2618822	hsa-miR-3613-3p	CLIP-seq
MIRT1331903	hsa-miR-3647-3p	CLIP-seq
MIRT2618823	hsa-miR-3973	CLIP-seq
MIRT2322801	hsa-miR-4264	CLIP-seq
MIRT1331908	hsa-miR-4659a-3p	CLIP-seq
MIRT1331909	hsa-miR-4659b-3p	CLIP-seq
MIRT1331912	hsa-miR-4766-5p	CLIP-seq
MIRT1331913	hsa-miR-499-3p	CLIP-seq
MIRT1331914	hsa-miR-499a-3p	CLIP-seq
MIRT2618824	hsa-miR-520g	CLIP-seq
MIRT2618825	hsa-miR-520h	CLIP-seq
MIRT2618826	hsa-miR-548l	CLIP-seq
MIRT1331915	hsa-miR-581	CLIP-seq
MIRT1331916	hsa-miR-583	CLIP-seq
MIRT2322804	hsa-miR-622	CLIP-seq

Show/Hide all(32)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IEA
GO:0005739	Component	Mitochondrion	TAS
GO:0005740	Component	Mitochondrial envelope	IEA
GO:0005740	Component	Mitochondrial envelope	TAS	9533030
GO:0005743	Component	Mitochondrial inner membrane	IDA	9533030
GO:0005743	Component	Mitochondrial inner membrane	IEA
GO:0005743	Component	Mitochondrial inner membrane	ISS
GO:0005743	Component	Mitochondrial inner membrane	NAS	30030361
GO:0005743	Component	Mitochondrial inner membrane	TAS
GO:0006099	Process	Tricarboxylic acid cycle	IBA
GO:0006099	Process	Tricarboxylic acid cycle	IDA	9533030
GO:0006099	Process	Tricarboxylic acid cycle	IEA
GO:0006099	Process	Tricarboxylic acid cycle	NAS	30030361
GO:0006121	Process	Mitochondrial electron transport, succinate to ubiquinone	IBA
GO:0006121	Process	Mitochondrial electron transport, succinate to ubiquinone	NAS	30030361
GO:0008177	Function	Succinate dehydrogenase (quinone) activity	IEA
GO:0009055	Function	Electron transfer activity	TAS	9533030
GO:0016020	Component	Membrane	IEA
GO:0020037	Function	Heme binding	IBA
GO:0020037	Function	Heme binding	ISS
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	9533030
GO:0046872	Function	Metal ion binding	IEA
GO:0048039	Function	Ubiquinone binding	IBA
GO:0048039	Function	Ubiquinone binding	ISS
GO:0050433	Process	Regulation of catecholamine secretion	IEA
GO:0071456	Process	Cellular response to hypoxia	IEA

MIM	HGNC	e!Ensembl
602690	10683	ENSG00000204370

Protein

UniProt ID

O14521

Protein name

Succinate dehydrogenase [ubiquinone] cytochrome b small subunit, mitochondrial (CybS) (CII-4) (Malate dehydrogenase [quinone] cytochrome b small subunit) (QPs3) (Succinate dehydrogenase complex subunit D) (Succinate-ubiquinone oxidoreductase cytochrome b

Protein function

Membrane-anchoring 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:10482792, Pu

PDB

8GS8

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF05328	CybS	40 → 158		Family

Sequence

MAVLWRLSAVCGALGGRALLLRTPVVRPAHISAFLQDRPIPEWCGVQHIHLSPSHHSGSK
AASLHWTSERVVSVLLLGLLPAAYLNPCSAMDYSLAAALTLHGHWGLGQVVTDYVHGDAL
QKAAKAGLLALSALTFAGLCYFNYHDVGICKAVAMLWKL

Sequence length

159

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 (5)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Carney-Stratakis Syndrome	carney-stratakis syndrome	rs587776649	N/A
Hereditary Pheochromocytoma-Paraganglioma	hereditary pheochromocytoma-paraganglioma	rs786203067, rs1306475361, rs80338845, rs1555187010, rs104894306, rs1555187083, rs1555187570, rs876658477, rs1050032491, rs1555187601, rs80338843, rs80338842, rs587776649, rs886041237, rs104894304 View all (4 more)	N/A
Mitochondrial Complex Deficiency	Mitochondrial complex 2 deficiency, nuclear type 3	rs1131691065, rs876658477, rs786205436	N/A
Paraganglioma	Paragangliomas 1, paragangliomas 4	rs587776646, rs104894302, rs104894307, rs80338844, rs104894306, rs587776648, rs104894308, rs876659130, rs80338845, rs387906358, rs104894303, rs104894309, rs121908983, rs80338843, rs104894310 View all (12 more)	N/A
Pheochromocytoma	pheochromocytoma	rs80338844, rs864321644, rs876659130, rs104894306, rs104894309, rs876658477, rs878854594, rs587776644, rs886041237	N/A

Show/Hide Unknown Diseases (4)

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.
Cowden Syndrome	cowden syndrome	N/A	N/A	ClinVar
Intestinal Cancer	intestinal cancer	N/A	N/A	GenCC
Microcephaly	microcephaly	N/A	N/A	ClinVar
Mitochondrial Diseases	mitochondrial disease	N/A	N/A	GenCC

Show/Hide Text Mining Associations (60)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Abdominal Injuries	Associate	18362451, 19261994, 22948026
Acromegaly	Associate	22170724
Autonomic Nervous System Diseases	Associate	22948026
Breast Neoplasms	Associate	25149476, 37974462
Calcinosis Cutis	Associate	30106970
Carcinogenesis	Associate	25149476, 25328978, 28164237
Carcinoma Hepatocellular	Associate	25894340, 36308411
Carcinoma Papillary Follicular	Associate	25149476
Carcinoma Renal Cell	Associate	18678321, 24625421, 34014604, 36455002
Cardiomyopathies	Associate	26008905, 34012134
Carney Complex	Associate	19522821
Carney Stratakis Syndrome	Associate	19522821, 23282968, 25883251
Carotid Body Tumor	Associate	16080474, 23083876, 25328978, 38144572, 39754145
Carotid Body Tumor	Stimulate	30584686
Colonic Neoplasms	Associate	36949947
Cowden Like Syndrome	Associate	18678321, 25149476
Cranial Nerve Diseases	Associate	29777207
Dwarfism Pituitary	Associate	22170724
Gastrointestinal Stromal Tumors	Associate	19522821, 22955521, 23174939, 24625421, 25883251
Genetic Diseases Inborn	Associate	11404820
Glomus Tumor	Associate	12000816, 16061558
Growth Hormone Secreting Pituitary Adenoma	Associate	22170724, 22889736
Hamartoma Syndrome Multiple	Associate	18678321, 25149476, 28164237
Head and Neck Neoplasms	Associate	11897817, 17102082, 18826997, 19550080, 19584903, 21224366, 21752889, 22948026, 23555188, 25300370, 26008905, 30106970, 30584686, 32023584, 33851515 View all (6 more)
Hypoxia	Associate	11605159
Immunologic Deficiency Syndromes	Associate	36614070
Islet cell tumor syndrome	Associate	16405730, 18362451, 19261994, 20379037
Kidney Neoplasms	Associate	23083876
Leukemia Myelogenous Chronic BCR ABL Positive	Associate	36013579
Mediastinitis	Associate	11605159
Melanoma	Associate	25261935, 26327518, 28108517
Melanoma Cutaneous Malignant	Associate	28662141
Mitochondrial Complex II Deficiency	Associate	11605159, 26008905, 34012134
Mitochondrial Diseases	Associate	20885442
Mitochondrial Encephalomyopathies	Associate	34012134
Multiple Endocrine Neoplasia Type 2a	Associate	21262951, 22584711
Neoplasm Invasiveness	Associate	34906457
Neoplasm Metastasis	Associate	18362451, 19261994, 25819804, 27789751
Neoplasms	Associate	11404820, 15331017, 18362451, 18826997, 19269919, 19550080, 20890271, 22573489, 22889736, 25023465, 25119015, 25261935, 25300370, 25973039, 28099933 View all (11 more)
Neoplasms	Inhibit	15331017, 16288654, 16405730, 19368708, 27100877
Neoplastic Syndromes Hereditary	Associate	11404820, 11605159, 11897817, 14685938, 15331017, 16405730, 18362451, 19072999, 19261994, 19368708, 20379037, 20484225, 20505258, 21455202, 28099933, 29925701, 32354376, 34010450 View all (3 more)
Neural crest tumor	Associate	16061558
Neuroblastoma	Associate	15331017
Neuroendocrine Tumors	Associate	25023465, 34906457
Obesity	Associate	30782949
Ovarian Neoplasms	Associate	33649794
Paraganglioma	Associate	11897817, 15331017, 16061554, 16080474, 16080530, 16288654, 18826997, 19075037, 19269919, 19522821, 19550080, 19576851, 19584903, 20205103, 20418362 View all (35 more)
Paraganglioma Extra Adrenal	Associate	25720320
Paragangliomas 3	Associate	18362451, 19261994, 19269919, 19584903, 20890271, 34654328
Personality Disorders	Associate	19075037, 35149119
Pheochromocytoma	Associate	11404820, 12000816, 15331017, 16061554, 16098460, 16288654, 16405730, 18826997, 19072999, 19368708, 20205103, 20484225, 20505258, 20842377, 20890271 View all (28 more)
Pituitary Neoplasms	Associate	22170724, 22889736, 25494863, 31348302
Polycystic Ovary Syndrome	Associate	34360981
Respiratory Insufficiency	Associate	25328978
Seminoma	Associate	22170724
Spinocerebellar Degenerations	Associate	17487275
Thoracic Neoplasms	Associate	18826997
Thyroid Neoplasms	Associate	25149476, 28164237
Uterine Cervical Neoplasms	Associate	37899663
von Hippel Lindau Disease	Associate	21262951, 23555188

SDHD (succinate dehydrogenase complex subunit D)