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	6392
Gene name	Succinate dehydrogenase complex subunit D
Gene symbol	SDHD
Synonyms (NCBI Gene)	CBT1CII-4CWS3MC2DN3PGLPGL1PPGL1QPs3SDH4cybS
Chromosome	11
Chromosome location	11q23.1
Summary	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

193

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 assayMicroarrayqRT-PCRWestern blot	23028679
MIRT054218	hsa-miR-147b	Luciferase reporter assayMicroarrayqRT-PCRWestern 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	ImmunofluorescenceLuciferase reporter assayMicroarrayRNA-seqqRT-PCRWestern 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

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)

3688

Show/Hide Causal Diseases (16)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Carney-Stratakis syndrome	Likely pathogenic; Pathogenic	rs1291507545, rs1314133983, rs2135267557, rs2135269697, rs1555187574, rs2135269740, rs2135269378, rs2135269692, rs2135277333, rs587782210, rs2498917264, rs2498895877, rs786203067, rs786202403, rs786203932 View all (66 more)	RCV002242783 RCV002540717 RCV001994720 RCV001874725 RCV001913139 RCV001958656 RCV001948334 RCV001953697 RCV001935311 RCV001998098 RCV002514740 RCV003775621 RCV003102704 RCV002228760 RCV002228740 RCV002228995 RCV002601701 RCV002863222 RCV002889946 RCV002994598 RCV003005720 RCV001851718 RCV002228000 RCV000763227 RCV002512869 RCV002228003 RCV002228004 RCV002228005 RCV002228006 RCV002512870 RCV002228007 RCV002228008 RCV002228010 RCV002228011 RCV002512871 RCV002228012 RCV001851719 RCV000007326 RCV003777647 RCV002228961 RCV002229212 RCV000232971 RCV000233424 RCV000228216 RCV002229350 RCV002229731 RCV005220713 RCV003785485 RCV003783589 RCV003781386 RCV003792869 RCV003804227 RCV003804738 RCV003807334 RCV002230838 RCV002230840 RCV002230658 RCV002526633 RCV002525847 RCV002527068 RCV002231154 RCV003766764 RCV002524414 RCV001857228 RCV002524415 RCV002524416 RCV002230988 RCV002481730 RCV002231524 RCV002232089 RCV002235529 RCV002530564 RCV002232947 RCV002532294 RCV000703186 RCV002234117 RCV002538159 RCV002537516 RCV005225202 RCV005213441 RCV001873376 RCV002240202 RCV002241296 RCV002241158 RCV002241201 RCV002241089 RCV002241480 RCV003770276 RCV002241352 RCV002241653
Clear cell carcinoma of kidney	Likely pathogenic	rs778969755	RCV005926755
Cowden syndrome 3	Likely pathogenic; Pathogenic	rs1291507545, rs1314133983, rs2135267557, rs2135269697, rs1555187574, rs2135269740, rs2135269378, rs2135269692, rs2135277333, rs587782210, rs2498917264, rs2498895877, rs786203067, rs786202403, rs786203932 View all (65 more)	RCV002242783 RCV002540717 RCV001994720 RCV001874725 RCV001913139 RCV001958656 RCV001948334 RCV001953697 RCV001935311 RCV001998098 RCV002514740 RCV003775621 RCV003102704 RCV002228760 RCV002228740 RCV002228995 RCV002601701 RCV002863222 RCV002889946 RCV002994598 RCV003005720 RCV001851718 RCV002228000 RCV002228002 RCV002512869 RCV002228003 RCV002228004 RCV002228005 RCV002228006 RCV002512870 RCV002228007 RCV002228008 RCV002228010 RCV002228011 RCV002512871 RCV002228012 RCV001851719 RCV002512872 RCV003777647 RCV002228961 RCV002229212 RCV002229658 RCV002229659 RCV002229347 RCV002229350 RCV002229731 RCV005220713 RCV003785485 RCV003783589 RCV003781386 RCV003792869 RCV003804227 RCV003804738 RCV003807334 RCV002230838 RCV002230840 RCV002230658 RCV002526633 RCV002525847 RCV002527068 RCV002231154 RCV003766764 RCV002524414 RCV001857228 RCV002524415 RCV002524416 RCV002230988 RCV002231524 RCV002232089 RCV002235529 RCV002530564 RCV002232947 RCV002532294 RCV000703186 RCV002234117 RCV002538159 RCV002537516 RCV005225202 RCV005213441 RCV001873376 RCV002240202 RCV002241296 RCV002241158 RCV002241201 RCV002241089 RCV002241480 RCV003770276 RCV002241352 RCV002241653
Fatal infantile mitochondrial cardiomyopathy	Pathogenic	rs786205436	RCV000171136
Hereditary cancer-predisposing syndrome	Pathogenic; Likely pathogenic	rs1314133983, rs1555187574, rs2135269692, rs587782210, rs2135277783, rs876658477, rs2498917388, rs1555187083, rs2498917264, rs2498895877, rs2498899719, rs786203067, rs786202403, rs786203932, rs2498905122 View all (49 more)	RCV002334687 RCV002324301 RCV006287522 RCV000130886 RCV002257334 RCV002324587 RCV002452475 RCV002320714 RCV002452160 RCV002338627 RCV002376356 RCV000166207 RCV000165195 RCV000167450 RCV002428739 RCV000492417 RCV000492087 RCV000162448 RCV000567104 RCV000566289 RCV000221353 RCV002381243 RCV000492341 RCV001013655 RCV002433446 RCV000492533 RCV006287147 RCV000492163 RCV004948132 RCV002453249 RCV000222413 RCV000221327 RCV004018584 RCV000492772 RCV004085101 RCV000217241 RCV000219575 RCV000215839 RCV003343720 RCV002258843 RCV003177713 RCV000492278 RCV003311139 RCV003278399 RCV004950702 RCV004508394 RCV002433463 RCV002323759 RCV001021499 RCV000492697 RCV000492287 RCV000569878 RCV000492092 RCV000492559 RCV000492485 RCV002413385 RCV001018787 RCV002341190 RCV004023413 RCV005480384 RCV000565451 RCV000575825 RCV000574656 RCV000570334 RCV000561906 RCV002369946 RCV001018360 RCV001011028 RCV001016589 RCV001019494 RCV001023716 RCV002445259 RCV005268977 RCV004671273 RCV002451642
Hereditary pheochromocytoma and paraganglioma	Pathogenic; Likely pathogenic	rs786203067, rs2135264652, rs80338843, rs80338844, rs80338845, rs104894304, rs104894305, rs104894306, rs80338842, rs80338847, rs587776649, rs876658477, rs886041237, rs80338846, rs1306475361 View all (6 more)	RCV000505306 RCV005058919 RCV000020518 RCV000020519 RCV000020520 RCV000155750 RCV000505384 RCV004802924 RCV000020522 RCV000020523 RCV000505302 RCV002282052 RCV000505366 RCV000020521 RCV000505295 RCV000505381 RCV000505333 RCV000505320 RCV000505385 RCV000505276 RCV001194404
Inherited phaeochromocytoma and paraganglioma excluding NF1	Likely pathogenic; Pathogenic	rs80338844, rs387906358, rs587776649, rs1592777386	RCV005865159 RCV005865160 RCV005865161 RCV005865450
Mitochondrial complex 2 deficiency, nuclear type 3	Pathogenic; Likely pathogenic	rs786205436, rs2135277333, rs80338844, rs397514034, rs587776648, rs587776649, rs876658477, rs1131691065, rs1555187566	RCV000186596 RCV003475442 RCV003472995 RCV005394133 RCV002504760 RCV005041998 RCV003475006 RCV002291278 RCV002481730
Mitochondrial complex II deficiency, nuclear type 1	Likely pathogenic; Pathogenic	rs80338844	RCV000763227
Paraganglioma	Likely pathogenic; Pathogenic	rs876659130	RCV005054185
Paragangliomas with sensorineural hearing loss	Likely pathogenic; Pathogenic	rs1291507545, rs1314133983, rs2135267557, rs2135269697, rs1555187574, rs2135269740, rs2135269378, rs2135269692, rs2135277333, rs587782210, rs2498917264, rs2498895877, rs786203067, rs786202403, rs786203932 View all (64 more)	RCV002242783 RCV002540717 RCV001994720 RCV001874725 RCV001913139 RCV001958656 RCV001948334 RCV001953697 RCV001935311 RCV001998098 RCV002514740 RCV003775621 RCV003102704 RCV002228760 RCV002228740 RCV002228995 RCV002601701 RCV002863222 RCV002889946 RCV002994598 RCV003005720 RCV001851718 RCV002228000 RCV002228002 RCV002512869 RCV002228003 RCV002228004 RCV002228005 RCV002228006 RCV002512870 RCV002228007 RCV002228008 RCV002228010 RCV002228011 RCV002512871 RCV002228012 RCV001851719 RCV002512872 RCV003777647 RCV002228961 RCV002229212 RCV002229658 RCV002229659 RCV002229347 RCV002229350 RCV002229731 RCV005220713 RCV003785485 RCV003783589 RCV003781386 RCV003792869 RCV003804227 RCV003804738 RCV003807334 RCV002230838 RCV002230840 RCV002230658 RCV002526633 RCV002525847 RCV002527068 RCV002231154 RCV003766764 RCV002524414 RCV001857228 RCV002524415 RCV002524416 RCV002230988 RCV002231524 RCV002232089 RCV002235529 RCV002530564 RCV002232947 RCV002532294 RCV002234117 RCV002538159 RCV002537516 RCV005225202 RCV005213441 RCV001873376 RCV002240202 RCV002241296 RCV002241158 RCV002241201 RCV002241089 RCV002241480 RCV003770276 RCV002241352 RCV002241653
Pheochromocytoma	Likely pathogenic; Pathogenic	rs1291507545, rs1314133983, rs2135267557, rs2135269697, rs1555187574, rs2135269740, rs2135269378, rs2135269692, rs2135277333, rs587782210, rs2498917264, rs2498895877, rs786203067, rs786202403, rs786203932 View all (67 more)	RCV002242783 RCV002540717 RCV001994720 RCV001874725 RCV001913139 RCV001958656 RCV001948334 RCV001953697 RCV001935311 RCV001998098 RCV002514740 RCV003775621 RCV003102704 RCV002228760 RCV002228740 RCV002228995 RCV002601701 RCV002863222 RCV002889946 RCV002994598 RCV003005720 RCV000203535 RCV001851718 RCV002228000 RCV002243626 RCV000007304 RCV002512869 RCV002228003 RCV002228004 RCV002228005 RCV000193132 RCV002512870 RCV002228007 RCV002228008 RCV002228010 RCV002228011 RCV002512871 RCV000007324 RCV001851719 RCV002512872 RCV003777647 RCV002228961 RCV001294091 RCV000232971 RCV000233424 RCV000228216 RCV002229350 RCV001523821 RCV003405196 RCV005220713 RCV003785485 RCV003783589 RCV003781386 RCV003792869 RCV003804227 RCV003804738 RCV003807334 RCV002230838 RCV000465313 RCV002230658 RCV002526633 RCV002525847 RCV002527068 RCV002231154 RCV003766764 RCV002524414 RCV001857228 RCV002524415 RCV002524416 RCV002230988 RCV002481730 RCV002231524 RCV002232089 RCV002235529 RCV002530564 RCV002232947 RCV002532294 RCV000703186 RCV002234117 RCV002538159 RCV002537516 RCV005225202 RCV005213441 RCV001873376 RCV002240202 RCV002241296 RCV002241158 RCV002241201 RCV002241089 RCV002241480 RCV003770276 RCV002241352 RCV002241653
Pheochromocytoma/paraganglioma syndrome 1	Pathogenic; Likely pathogenic	rs1314133983, rs2135269358, rs2135277706, rs2135267337, rs761615413, rs104894303, rs80338843, rs587776644, rs80338844, rs80338845, rs104894302, rs587776645, rs104894304, rs104894305, rs587776646 View all (27 more)	RCV003451913 RCV001800260 RCV001807891 RCV001808000 RCV005863775 RCV000007295 RCV000007296 RCV000007298 RCV000007303 RCV000007305 RCV000007307 RCV000007308 RCV000007309 RCV000007310 RCV000007311 RCV000007312 RCV004018581 RCV000007314 RCV000007315 RCV000007316 RCV000007317 RCV004018582 RCV000007321 RCV000007322 RCV002288472 RCV004018583 RCV005041998 RCV004589964 RCV000232971 RCV000233424 RCV000228216 RCV003485897 RCV003450597 RCV005602087 RCV000465313 RCV000578040 RCV002481730 RCV000660262 RCV000660261 RCV000660263 RCV000703186 RCV004027133 RCV004028788
Pheochromocytoma/paraganglioma syndrome 4	Likely pathogenic; Pathogenic	rs80338845	RCV002288471
SDHD-related disorder	Likely pathogenic; Pathogenic	rs80338844, rs1555187574	RCV004748507 RCV003420005
Thyroid cancer, nonmedullary, 1	Likely pathogenic; Pathogenic	rs1592777386	RCV005912393

Show/Hide Unknown Diseases (15)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Likely benign; Benign	rs911853469, rs9919552	RCV005896781 RCV005889079
Adrenocortical carcinoma, hereditary	Benign; Likely benign	rs61734352	RCV005892362
Carcinoid tumor of intestine	Benign; Likely benign	rs11214077	RCV000007318
Cervical cancer	Benign; Likely benign	rs61734352	RCV005892363
Cholangiocarcinoma	Benign; Likely benign	rs9919552	RCV005889084
Colorectal cancer	Benign; Likely benign	rs61734352	RCV005892365
Cowden syndrome	Likely benign; Conflicting classifications of pathogenicity	rs780972546, rs200255724, rs201987672	RCV005358089 RCV005355869 RCV005357652
EBV-positive nodal T- and NK-cell lymphoma	Likely benign	rs2498914039	RCV004557935
Hepatocellular carcinoma	Benign; Likely benign	rs9919552	RCV005889080
Malignant tumor of esophagus	Benign; Likely benign	rs61734352, rs9919552	RCV005892361 RCV005889081
Melanoma	Benign; Likely benign	rs9919552	RCV005889083
Microcephaly	Conflicting classifications of pathogenicity	rs200255724	RCV001252746
Pheochromocytoma/paraganglioma syndrome 3	Benign; Likely benign	rs61734352, rs9919624, rs4151637, rs9919552	RCV003316088 RCV003316658 RCV003316659 RCV003315556
Sarcoma	Benign; Likely benign	rs9919552	RCV005889082
Uterine corpus endometrial carcinoma	Benign; Likely benign	rs61734352	RCV005892366

Show/Hide Text Mining Associations (60)

Disease Name	Relationship Type	References
Associations from Text MiningDisease 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)