SDHB (succinate dehydrogenase complex iron sulfur subunit B)

Gene

• Entrez ID: 6390
• Gene name: Succinate dehydrogenase complex iron sulfur subunit B
• Gene symbol: SDHB
• Synonyms (NCBI Gene): CWS2, IP, MC2DN4, PGL4, PPGL4, SDH, SDH1, SDH2, SDHIP
• Chromosome: 1
• Chromosome location: 1p36.13
• Summary: Complex II of the respiratory chain, which is specifically involved in the oxidation of succinate, carries electrons from FADH to CoQ. The complex is composed of four nuclear-encoded subunits and is localized in the mitochondrial inner membrane. The iron-

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs11541235	A>G	Conflicting-interpretations-of-pathogenicity, likely-benign, benign-likely-benign	Synonymous variant, coding sequence variant
rs33927012	A>G	Benign, benign-likely-benign, likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs34261028	GAAGAAGAAGAA>-,GAA,GAAGAA,GAAGAAGAA,GAAGAAGAAGAAGAA,GAAGAAGAAGAAGAAGAA,GAAGAAGAAGAAGAAGAAGAA	Benign-likely-benign, benign, uncertain-significance, conflicting-interpretations-of-pathogenicity	Intron variant
rs34309090	G>-,GG	Pathogenic	Coding sequence variant, frameshift variant
rs74315366	G>A,C	Uncertain-significance, pathogenic	Missense variant, stop gained, coding sequence variant
rs74315367	G>C	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs74315368	C>T	Pathogenic	Missense variant, coding sequence variant
rs74315369	G>A,C	Uncertain-significance, benign, pathogenic	Missense variant, stop gained, coding sequence variant
rs74315370	G>A,C	Pathogenic	Missense variant, stop gained, coding sequence variant
rs74315371	C>T	Pathogenic	Missense variant, coding sequence variant
rs74315372	T>C,G	Uncertain-significance, pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs111430410	C>T	Likely-benign, uncertain-significance, benign, pathogenic	Missense variant, coding sequence variant
rs121917755	G>A,C	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs138996609	G>A	Pathogenic	Missense variant, coding sequence variant
rs146800605	T>A,C	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs147815442	G>A,C,T	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, coding sequence variant
rs199809975	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant
rs200245469	G>A,C	Pathogenic, uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs202101384	T>A	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs267607032	C>A	Pathogenic, likely-pathogenic, pathogenic-likely-pathogenic	Missense variant, coding sequence variant
rs373976827	C>T	Pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs397516833	C>G	Pathogenic, likely-pathogenic	Splice acceptor variant
rs397516834	G>A	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs397516835	C>G,T	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs397516836	C>A,T	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant, stop gained
rs398122805	C>G,T	Pathogenic	Splice donor variant
rs398123690	G>-,GGG	Pathogenic	Coding sequence variant, frameshift variant
rs528442805	C>T	Likely-pathogenic	Synonymous variant, coding sequence variant
rs570278423	C>T	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs587781266	GAGA>-	Pathogenic	Coding sequence variant, frameshift variant
rs587781270	A>T	Likely-pathogenic, pathogenic	Splice donor variant
rs587781735	G>C	Likely-pathogenic	Coding sequence variant, missense variant
rs587782243	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs587782604	C>A,T	Pathogenic-likely-pathogenic, likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs587782617	ATTTGTCTCC>-	Pathogenic	Coding sequence variant, frameshift variant
rs587782703	C>A,T	Pathogenic-likely-pathogenic, pathogenic	Splice donor variant
rs587782904	C>T	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs727503415	A>G	Uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs727504457	A>G	Uncertain-significance, likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs747198089	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs747518441	C>A,T	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs751000085	G>A,C	Pathogenic	Coding sequence variant, stop gained, missense variant
rs760169139	A>C,G	Pathogenic	Synonymous variant, coding sequence variant, stop gained
rs762812025	CT>-	Pathogenic	Frameshift variant, coding sequence variant
rs772551056	C>A,T	Pathogenic-likely-pathogenic, pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs778952116	C>T	Likely-pathogenic, pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs786201063	C>T	Pathogenic	Splice donor variant
rs786201085	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs786201095	A>C	Pathogenic, likely-pathogenic, pathogenic-likely-pathogenic	Missense variant, coding sequence variant
rs786201161	T>C	Pathogenic, likely-pathogenic	Splice acceptor variant
rs786201316	T>CC	Pathogenic	Coding sequence variant, frameshift variant
rs786202100	GAGGT>-	Pathogenic	Coding sequence variant, frameshift variant
rs786202732	A>G	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs786203251	G>A,T	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs786203506	G>A,C,T	Pathogenic	Missense variant, coding sequence variant, stop gained
rs786203529	C>A	Likely-pathogenic	Missense variant, coding sequence variant
rs786203800	A>T	Pathogenic	Coding sequence variant, stop gained
rs794728946	C>A,G	Pathogenic	Missense variant, coding sequence variant, stop gained
rs794728947	->G	Pathogenic	Coding sequence variant, frameshift variant
rs794728948	->TAGA	Pathogenic	Coding sequence variant, frameshift variant
rs794728949	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs794728950	TAGA>-	Pathogenic	Coding sequence variant, frameshift variant
rs864321636	C>G	Likely-pathogenic	Missense variant, coding sequence variant
rs864321637	T>G	Likely-pathogenic	Missense variant, coding sequence variant
rs864321638	A>C	Likely-pathogenic	Coding sequence variant, stop gained
rs864321639	ATCGATAGA>-	Likely-pathogenic	Coding sequence variant, inframe indel
rs876658367	C>T	Pathogenic	Missense variant, coding sequence variant
rs876658451	G>A	Pathogenic, uncertain-significance	Coding sequence variant, stop gained
rs876658461	G>A	Pathogenic	Coding sequence variant, stop gained
rs876658540	C>A	Likely-pathogenic	Missense variant, coding sequence variant
rs876658713	T>A,G	Pathogenic, likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs876659329	A>G,T	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs876659330	C>G	Likely-pathogenic	Intron variant
rs876659491	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs876660368	CCTCACC>-	Pathogenic	Splice donor variant, coding sequence variant, intron variant
rs876660642	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs878854572	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs878854574	T>G	Likely-pathogenic	Splice acceptor variant
rs878854575	T>A	Pathogenic	Coding sequence variant, stop gained
rs878854576	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs916516745	C>T	Pathogenic	Stop gained, coding sequence variant
rs1045881797	C>A,T	Pathogenic, uncertain-significance	Stop gained, missense variant, coding sequence variant
rs1060503751	AG>-	Pathogenic	Coding sequence variant, frameshift variant
rs1060503752	CA>-	Pathogenic	Coding sequence variant, frameshift variant
rs1060503753	T>A	Pathogenic	Stop gained, coding sequence variant
rs1060503757	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1060503759	C>T	Pathogenic	Stop gained, coding sequence variant
rs1060503762	C>T	Pathogenic	Stop gained, coding sequence variant
rs1060503763	A>C,G	Likely-benign, pathogenic	Stop gained, coding sequence variant, synonymous variant
rs1060503764	->A	Pathogenic	Coding sequence variant, frameshift variant
rs1060503767	AG>-	Pathogenic	Coding sequence variant, frameshift variant
rs1064794269	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1064794270	T>C	Pathogenic	Splice acceptor variant
rs1131691047	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1131691049	T>A	Likely-pathogenic, pathogenic	Initiator codon variant, missense variant
rs1131691050	->GTTCC	Pathogenic	Coding sequence variant, frameshift variant
rs1131691051	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1131691052	C>G,T	Likely-pathogenic, pathogenic	Splice donor variant
rs1131691053	->T	Pathogenic	Coding sequence variant, frameshift variant
rs1131691054	C>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1131691055	C>A,T	Likely-pathogenic	Splice acceptor variant
rs1131691057	->T	Likely-pathogenic, pathogenic	Coding sequence variant, frameshift variant
rs1131691058	G>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1131691059	TCCACCAGTA>CC	Pathogenic	Coding sequence variant, frameshift variant
rs1131691060	C>T	Pathogenic	Splice acceptor variant
rs1131691061	C>T	Likely-pathogenic, pathogenic	Initiator codon variant, missense variant
rs1209914140	->CGCCTCTGTGAAG	Pathogenic	Coding sequence variant, frameshift variant
rs1228560456	G>A,C	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs1278834014	C>A,G,T	Likely-pathogenic, uncertain-significance	Coding sequence variant, synonymous variant, missense variant
rs1480267715	AATCC>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1553176976	->AGCT	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553176979	->C	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553177285	T>A	Pathogenic	Coding sequence variant, stop gained
rs1553177290	C>G,T	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant, stop gained
rs1553177292	C>T	Likely-pathogenic	Splice acceptor variant
rs1553177424	A>C	Pathogenic	Splice donor variant
rs1553177436	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1553177666	GGACTAATGACCAG>-	Likely-pathogenic	Intron variant, splice donor variant, coding sequence variant
rs1553177667	C>T	Likely-pathogenic	Splice donor variant
rs1553177669	->T	Pathogenic	Frameshift variant, coding sequence variant
rs1553177672	TCTTC>CCTT	Pathogenic	Frameshift variant, coding sequence variant
rs1553177676	G>A	Pathogenic	Coding sequence variant, stop gained
rs1553177677	G>A	Pathogenic	Coding sequence variant, stop gained
rs1553177678	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs1553177679	G>A	Pathogenic	Coding sequence variant, stop gained
rs1553177687	CTG>AGATACC	Pathogenic	Frameshift variant, coding sequence variant
rs1553177688	->CCATA	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553177739	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1553177741	->T	Pathogenic	Frameshift variant, coding sequence variant
rs1553177742	->T	Pathogenic	Frameshift variant, coding sequence variant
rs1553177769	T>A	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs1553177772	G>C	Likely-pathogenic	Intron variant
rs1553178040	G>T	Pathogenic	Coding sequence variant, stop gained
rs1553178041	A>G	Pathogenic	Coding sequence variant, missense variant
rs1553178726	C>G	Uncertain-significance, pathogenic	Intron variant
rs1553178729	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1553178757	T>C	Pathogenic	Intron variant
rs1553179313	GCAGGCAGGCTCCGCCAAGGGTTGTGGCCGGCAACCGGCGCCTCAAGGAGAGGGCGACCACCGCCGCCATCT>-	Pathogenic	Initiator codon variant, inframe deletion, 5 prime UTR variant
rs1553179337	->GCAACCGGCGCCTCAAGGAGAGGGCG	Pathogenic	Coding sequence variant, inframe indel, stop gained
rs1553179359	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1557738304	->C	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1557739966	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1557741425	->C	Pathogenic	Coding sequence variant, frameshift variant
rs1570944788	C>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1570944850	->TGCAGCTTGGCCAGGCGCTCCTCTGTGAAGTCATCTCTGGAGTCAATCATCC	Pathogenic	Coding sequence variant, stop gained, inframe insertion
rs1570944890	->G	Pathogenic	Coding sequence variant, frameshift variant
rs1570945796	->AGATATTTGTCTCC	Pathogenic	Coding sequence variant, frameshift variant
rs1570945961	C>A	Pathogenic	Splice acceptor variant
rs1570948631	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1570958022	->TCTG	Pathogenic	Coding sequence variant, frameshift variant
rs1570958038	->GT	Pathogenic	Coding sequence variant, frameshift variant
rs1570963430	G>A	Pathogenic	Coding sequence variant, stop gained
rs1570963451	->G	Pathogenic	Coding sequence variant, frameshift variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT030097	hsa-miR-26b-5p	Microarray	19088304
MIRT046037	hsa-miR-125b-5p	CLASH	23622248
MIRT733575	hsa-miR-96-3p	Luciferase reporter assay, qRT-PCR, Western blotting	31749660
MIRT733575	hsa-miR-96-3p	Luciferase reporter assay, qRT-PCR, Western blotting	31749660

Transcription factors

Transcription factor	Regulation	Reference
HIF1A	Repression	17102089
NFE2L2	Unknown	9492280
NRF1	Unknown	9492280
PLAGL1	Repression	19423711

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	15961414, 19688755, 24606901, 26749241, 28380382, 28514442, 33961781, 35512704
GO:0005654	Component	Nucleoplasm	IDA
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IDA
GO:0005739	Component	Mitochondrion	IEA
GO:0005739	Component	Mitochondrion	TAS	2302193
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:0005759	Component	Mitochondrial matrix	TAS
GO:0005886	Component	Plasma membrane	IDA
GO:0006099	Process	Tricarboxylic acid cycle	IEA
GO:0006099	Process	Tricarboxylic acid cycle	NAS	30030361
GO:0006099	Process	Tricarboxylic acid cycle	TAS	2302193
GO:0006105	Process	Succinate metabolic process	IEA
GO:0006121	Process	Mitochondrial electron transport, succinate to ubiquinone	NAS	30030361
GO:0008177	Function	Succinate dehydrogenase (quinone) activity	IEA
GO:0008177	Function	Succinate dehydrogenase (quinone) activity	IMP	26925370, 27604842
GO:0009055	Function	Electron transfer activity	IEA
GO:0009060	Process	Aerobic respiration	IBA
GO:0009060	Process	Aerobic respiration	TAS	2302193
GO:0016020	Component	Membrane	IEA
GO:0016491	Function	Oxidoreductase activity	IEA
GO:0022904	Process	Respiratory electron transport chain	IBA
GO:0022904	Process	Respiratory electron transport chain	IEA
GO:0031966	Component	Mitochondrial membrane	IBA
GO:0042776	Process	Proton motive force-driven mitochondrial ATP synthesis	NAS	30030361
GO:0045273	Component	Respiratory chain complex II (succinate dehydrogenase)	IDA	37098072
GO:0045273	Component	Respiratory chain complex II (succinate dehydrogenase)	IEA
GO:0045273	Component	Respiratory chain complex II (succinate dehydrogenase)	ISS
GO:0046872	Function	Metal ion binding	IEA
GO:0048039	Function	Ubiquinone binding	ISS
GO:0051536	Function	Iron-sulfur cluster binding	IEA
GO:0051537	Function	2 iron, 2 sulfur cluster binding	IEA
GO:0051537	Function	2 iron, 2 sulfur cluster binding	ISS
GO:0051538	Function	3 iron, 4 sulfur cluster binding	IEA
GO:0051538	Function	3 iron, 4 sulfur cluster binding	ISS
GO:0051539	Function	4 iron, 4 sulfur cluster binding	IEA
GO:0051539	Function	4 iron, 4 sulfur cluster binding	ISS

Other IDs

• MIM: 185470
• HGNC: 10681
• e!Ensembl: ENSG00000117118

Protein

• UniProt ID: P21912
• Protein name: Succinate dehydrogenase [ubiquinone] iron-sulfur subunit, mitochondrial (EC 1.3.5.1) (Iron-sulfur subunit of complex II) (Ip) (Malate dehydrogenase [quinone] iron-sulfur subunit) (EC 1.1.5.-)
• Protein function: Iron-sulfur protein (IP) subunit of the succinate dehydrogenase complex (mitochondrial respiratory chain complex II), responsible for transferring electrons from succinate to ubiquinone (coenzyme Q) (PubMed:26925370, PubMed:27604842). SDH also o
• PDB: 7KCL, 7KCM, 7KLU, 7KLV, 8GS8
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF13085	Fer2_3	41 → 148	2Fe-2S iron-sulfur cluster binding domain	Domain
  PF13534	Fer4_17	185 → 258		Domain

• Sequence:

  MAAVVALSLRRRLPATTLGGACLQASRGAQTAAATAPRIKKFAIYRWDPDKAGDKPHMQT
  YEVDLNKCGPMVLDALIKIKNEVDSTLTFRRSCREGICGSCAMNINGGNTLACTRRIDTN
  LNKVSKIYPLPHMYVIKDLVPDLSNFYAQYKSIEPYLKKKDESQEGKQQYLQSIEEREKL
  DGLYECILCACCSTSCPSYWWNGDKYLGPAVLMQAYRWMIDSRDDFTEERLAKLQDPFSL
  YRCHTIMNCTRTCPKGLNPGKAIAEIKKMMATYKEKKASV

• Sequence length: 280

Pathways

KEGG:

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

Reactome:

Citric acid cycle (TCA cycle)

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Associated diseases

Causal
Disease merge term	Disease name	dbSNP ID	References
Carney-Stratakis Syndrome	carney-stratakis syndrome	rs398122805, rs587782703	N/A
Gastrointestinal stromal tumor	gastrointestinal stromal tumor	rs74315369, rs876660642, rs200245469, rs397516836, rs916516745, rs74315370, rs786203251, rs751000085, rs1060503757, rs74315368, rs786202732, rs587781270, rs786201063, rs587782703, rs587782604, rs267607032, rs786201161, rs876658713, rs587782243	N/A
Hereditary Pheochromocytoma-Paraganglioma	hereditary pheochromocytoma-paraganglioma	rs727503415, rs74315369, rs1131691049, rs772551056, rs397516833, rs1553177742, rs1553177688, rs34309090, rs747198089, rs200245469, rs1480267715, rs587782604, rs876658713, rs74315366, rs786201095, rs727504457, rs762812025, rs786203800, rs876660642, rs397516836, rs1553177772, rs1131691052, rs751000085, rs786203251, rs1553178040, rs74315370, rs1553177290, rs74315367, rs786201316, rs786201085, rs1045881797, rs876658461, rs878854575, rs786202732, rs587781270, rs1553178041, rs1570945961, rs778952116, rs786201063, rs760169139, rs2077978300, rs528442805, rs794728946, rs876658367, rs587782703, rs74315368, rs267607032, rs1553177672, rs1553179313, rs876658540, rs781590955, rs786201161, rs397516835, rs1553177679, rs876658451, rs1060503751, rs587781266, rs138996609, rs1553177687, rs587782243, rs587782904, rs1131691061, rs398122805, rs1553177739, rs1553179359	N/A
Paraganglioma	paragangliomas 4	rs200245469, rs876658713, rs74315366, rs1060503767, rs587782243, rs727503415, rs397516833, rs1553177676, rs74315370, rs587782604, rs1553177290, rs74315367, rs1064794270, rs786201316, rs727504457, rs74315371, rs876658461, rs397516836, rs74315372, rs751000085, rs74315368, rs1045881797, rs876658367, rs786202732, rs587781270, rs778952116, rs786201063, rs786203251, rs267607032, rs1060503757, rs1131691057, rs794728947, rs587781266, rs1131691061, rs1553179340, rs1553177666, rs397516835, rs587782703, rs786202100, rs398122805, rs1553177292, rs876658451, rs1060503751, rs786201161, rs74315369, rs772551056, rs138996609, rs1060503762, rs786203529	N/A
Pheochromocytoma	pheochromocytoma	rs864321639, rs760169139, rs786203251, rs786202100, rs1131691061, rs864321636, rs864321638	N/A
Carney Triad	carney triad	rs786201095	N/A

Unknown
Disease merge term	Disease name	Evidence	References	Source
Alzheimer disease	Alzheimer's disease or family history of Alzheimer's disease	N/A	N/A	GWAS
Breast Cancer	Malignant tumor of breast	N/A	N/A	ClinVar
Cowden Syndrome	cowden syndrome	N/A	N/A	ClinVar
Mitochondrial Complex Deficiency	mitochondrial complex 2 deficiency, nuclear type 4, Mitochondrial complex II deficiency, nuclear type 1	N/A	N/A	GenCC, ClinVar
Mitochondrial Diseases	mitochondrial disease	N/A	N/A	GenCC
Papillary Renal Carcinoma	Papillary renal cell carcinoma type 1	N/A	N/A	ClinVar

Associations from Text Mining
Disease Name	Relationship Type	References
Abdominal Injuries	Associate	18840642, 22270996, 22948026, 27839933, 36945070
Abdominal Neoplasms	Associate	32863293
Acne Vulgaris	Associate	33113876
Adenocarcinoma	Stimulate	24387319
Adenoma Islet Cell	Associate	36455002
Adenoma Oxyphilic	Associate	31299266
Adrenal Gland Neoplasms	Associate	26170485
Alzheimer Disease	Associate	35432724
Arthropathy progressive pseudorheumatoid of childhood	Associate	38152133
Ataxia Telangiectasia	Associate	17487275, 35486677
Brain Diseases	Associate	30972844
Brain Neoplasms	Associate	21969497
Breast Neoplasms	Associate	18678321, 21979946
Calcinosis Cutis	Associate	21969497, 22036874, 22167067, 25048685, 25371406, 25683602, 25873086, 28284009, 32462735, 32863293, 35037935, 35300626
Calcinosis Cutis	Inhibit	29117221
Calcinosis Cutis	Stimulate	39735644
Cancer Pain	Associate	30045248
Carcinogenesis	Associate	25048361, 35510387
Carcinoma Hepatocellular	Associate	24203292, 36308411
Carcinoma Lobular	Associate	25053597
Carcinoma Neuroendocrine	Associate	36653904
Carcinoma Pancreatic Ductal	Associate	37312426
Carcinoma Renal Cell	Associate	14685938, 15220362, 18678321, 23083876, 24625421, 25034258, 26370861, 26719882, 26722403, 27573198, 29978187, 31034483, 31092265, 31308404, 33165095, 33564363, 33664427, 34014604, 34551979, 35288096, 35308143, 35414767, 35510387, 36455002, 39486656
Carcinoma Renal Cell	Inhibit	23531856, 34949766
Carney Stratakis Syndrome	Associate	19522821, 20890271, 22889736, 23109135, 23282968, 24859990
Carney Triad	Inhibit	24859990
Carotid Body Tumor	Associate	21820839, 22109755, 23433498, 24169168, 31856921, 32971818, 34940133
Central Nervous System Neoplasms	Associate	30971719
Colonic Neoplasms	Associate	36949947
Colorectal Neoplasms	Associate	28423651, 34853215, 38378070
Congenital thrombotic disease due to Protein C deficiency	Associate	21196298
Cough	Associate	22670000
Cowden Like Syndrome	Associate	18678321, 21979946, 22829200
Death	Associate	37008946
Diabetes Mellitus Type 2	Associate	38034011
Disease	Associate	27896548
Familial Primary Pulmonary Hypertension	Associate	14685938
Galactorrhea	Associate	38152133
Gastritis Atrophic	Associate	33620602
Gastrointestinal Stromal Tumors	Associate	19522821, 21173220, 21997692, 22948025, 22955521, 23071355, 23109135, 23282968, 23531856, 23550148, 23612575, 23743927, 24124608, 24356634, 24625421, 25034258, 25165019, 25239601, 25540324, 26370861, 26415883, 26555092, 26722403, 27011036, 28130400, 31124195, 31308404, 33199729, 33854214, 34426440, 34853215
Gastrointestinal Stromal Tumors	Inhibit	22892600
Genetic Diseases Inborn	Associate	23174939, 28099933
Glaucoma Open Angle	Associate	34348663
Glomus Tumor	Associate	12000816, 33826262
Glucagonoma	Associate	33505538
Hamartoma Syndrome Multiple	Associate	18678321, 22889736
Head and Neck Neoplasms	Associate	11897817, 15505628, 16405730, 21224366, 21752889, 21820839, 22109755, 27573198, 31194233, 31856921, 32023584, 32035780, 32460727, 32863293, 34654328, 35171114, 35460558
Headache	Associate	38152133
Heart Neoplasms	Associate	14685938
Hemangioblastoma	Associate	30971719
Hepatolenticular Degeneration	Associate	39809184
Hereditary leiomyomatosis and renal cell cancer	Associate	26472283, 28288038
Huntington Disease	Stimulate	27611087
Huntington Disease	Associate	29959348
Hypertension	Associate	25402382, 32460727
Hypoxia	Associate	12665464, 17487275
Hypoxia Brain	Associate	20980436
Immunoglobulin G4 Related Disease	Associate	27896548
Immunologic Deficiency Syndromes	Associate	24625421, 25427437, 26893822, 31092265, 35300626
Inflammation	Associate	30134173, 35486677
Insomnia Fatal Familial	Inhibit	27338255
Intestinal Atresia Multiple	Associate	40624119
Islet cell tumor syndrome	Associate	11404820, 16405730, 23360571, 26370861
Kidney Neoplasms	Associate	14685938, 23083876, 28784873, 30482207, 34551979, 34949766, 36455002
Leigh Disease	Associate	22972948
Leukodystrophy Metachromatic	Associate	22972948
Leukoencephalopathies	Associate	22972948
Liver Failure	Associate	21997692
Lung Diseases Interstitial	Associate	30940853
Lymphoma Follicular	Associate	31856921
Marfan Syndrome	Associate	37245000
Mediastinitis	Associate	19189136
MELAS Syndrome	Associate	30972844
Meningioma	Associate	26370861
MERRF Syndrome	Associate	30972844
Mitochondrial Complex II Deficiency	Associate	16288654, 22889736, 22955521, 22972948, 23743927, 25034258, 31124195
Mitochondrial Complex II Deficiency	Inhibit	21997692, 26415883, 30680959, 31308404, 34551979, 34940133
Mitochondrial Diseases	Associate	29288336, 34012134, 37312426
Multiple Endocrine Neoplasia Type 1	Associate	23778871, 38152133
Multiple Endocrine Neoplasia Type 2a	Associate	21262951
Multiple Sclerosis	Associate	35929063
Muscle Hypotonia	Associate	22972948
Nasopharyngeal Carcinoma	Associate	26547584, 27981552
Neoplasm Invasiveness	Associate	34906457
Neoplasm Metastasis	Associate	19618298, 23282968, 25014000, 25371406, 26547584, 27839933, 29117221, 30106970, 31216007, 32062700, 34426440, 34452955, 34770976, 34853215, 35414767, 35574028, 37008946, 38179299, 39735644
Neoplasm Metastasis	Stimulate	22136839
Neoplasms	Associate	15220362, 16288654, 17200167, 17208193, 18840642, 19596260, 19618298, 20505258, 20890271, 21051559, 21820839, 22036874, 22134189, 22343896, 22573489, 22835832, 23071355, 23154831, 23512077, 23555188, 23702733, 24169168, 24239180, 24387319, 24466223, 24526120, 24595825, 24625421, 24694336, 24859990, 24925884, 25014000, 25232952, 25459911, 25540324, 25608029, 25625332, 25720320, 26173966, 26261517, 26472283, 26523625, 26547584, 26719882, 26722403, 26837305, 26960314, 27573198, 27839933, 27865588, 27896548, 27910947, 28165631, 28229225, 28423651, 28724664, 29386252, 29967109, 30045248, 30050099, 30680959, 31092265, 31216007, 31828108, 32023584, 32462735, 32863293, 33854214, 34308104, 34415331, 34521993, 34940133, 35008989, 35037935, 35149119, 35977513, 36178902, 36368995, 36455002, 36706634, 36816543, 36897220, 36949947, 37008946, 37175927, 37245000, 38179299, 39735644
Neoplasms	Inhibit	16405730, 19368708, 22955521, 22972948, 24832166, 25491408, 30971719, 34949766, 38378070
Neoplasms	Stimulate	22136839
Neoplasms Germ Cell and Embryonal	Associate	33113876
Neoplasms Nerve Tissue	Associate	20205103
Neoplasms Unknown Primary	Associate	24387319
Neoplastic Syndromes Hereditary	Associate	11897817, 14685938, 16405730, 19368708, 19389109, 19628817, 20484225, 20505258, 21196298, 21455202, 22972948, 23174939, 23318864, 25402382, 26722403, 28099933, 29925701, 32354376, 39191493
Neural crest tumor	Associate	16061558
Neurilemmoma	Associate	34446460
Neuroblastoma	Associate	15505628, 20398431, 24595825, 26173966, 36675163
Neurodegenerative Diseases	Associate	32490968
Neuroendocrine Tumors	Associate	34906457, 35977513
Neurofibromatosis 1	Associate	21262951
Neurofibromatosis 2	Associate	33505538
Niemann Pick Disease Type C	Associate	26547584
Oligodendroglioma	Associate	29890994
Otitis Media	Associate	37175927
Ovarian Neoplasms	Associate	25491408, 33560870
Paraganglioma	Associate	11404820, 11897817, 14685938, 16080474, 16288654, 16405730, 17102082, 17200167, 17208193, 18826997, 18840642, 19075037, 19189136, 19269919, 19368708, 19389109, 19522821, 19576851, 19596260, 19618298, 19628817, 20205103, 20208144, 20398431, 20418362, 20505258, 20540712, 20890271, 20980436, 21051559, 21106325, 21196298, 21455202, 21461997, 21820839, 22109755, 22136839, 22167067, 22261759, 22270996, 22670000, 22835832, 22889736, 22948026, 22972948, 23174939, 23282968, 23360571, 23433498, 23512077, 23550148, 23555188, 23778871, 23889685, 23955600, 24466223, 24595825, 24859990, 25034258, 25048685, 25371406, 25402382, 25459911, 25625332, 25638014, 25720320, 25873086, 26173966, 26457353, 26472283, 26523625, 26960314, 27573198, 27700540, 27819762, 27896548, 28099933, 28122379, 29386252, 29890994, 30045248, 30106970, 31216007, 31308404, 31365623, 32062700, 32460727, 32462735, 32863293, 32892244, 32901905, 32948195, 33031286, 33113876, 33362715, 34446460, 34452955, 34558728, 34853215, 34899602, 35300626, 35498434, 35977513, 36178902, 38152133, 38179299, 40235160
Paraganglioma Extra Adrenal	Associate	19596260, 21969497, 25720320, 27896548
Paragangliomas 3	Associate	17200167, 19189136, 19269919, 20890271, 24239180, 24429046, 26837305, 27819762, 34654328, 35351744
Parathyroid Neoplasms	Associate	39536727
Personality Disorders	Associate	35149119
Pheochromocytoma	Associate	11404820, 12000816, 16098460, 16288654, 16405730, 17200167, 19368708, 19389109, 20205103, 20398431, 20484225, 20505258, 20890271, 20980436, 21196298, 21262951, 21455202, 21969497, 22036874, 22167067, 22241719, 22270996, 22573489, 22835832, 22889736, 22948026, 22972948, 23174939, 23512077, 23550148, 23555188, 24466223, 24625421, 24694336, 24925884, 25048685, 25494863, 25625332, 25720320, 25873086, 26359261, 26370861, 26472283, 26523625, 26722403, 26960314, 27573198, 27839933, 28099933, 28229225, 28374168, 29623478, 30050099, 30106970, 31216007, 31365623, 32062700, 32460727, 32471518, 32901905, 33113876, 33362715, 33397040, 33947839, 34415331, 34452955, 34536193, 34770976, 34797335, 34899602, 34906457, 35008989, 35037935, 35149119, 35300626, 35977513, 36178902, 36314599, 36946182, 37008946, 37285461, 38152133, 38179299
Pituitary Neoplasms	Associate	22889736, 24625421, 25494863, 28284009, 38152133
Precursor Cell Lymphoblastic Leukemia Lymphoma	Associate	17487275
Precursor T Cell Lymphoblastic Leukemia Lymphoma	Associate	17487275
Pregnancy Complications	Associate	26523625
Prolactinoma	Associate	24625421, 38152133
Prostate Cancer Hereditary 8	Associate	34452955
Pyruvate Carboxylase Deficiency Disease	Associate	30201732
Sarcoma	Associate	34308104
Sciatic Neuropathy	Associate	23433498
Signs and Symptoms	Associate	38152133
Smooth Muscle Tumor	Associate	26472283
Spinocerebellar Degenerations	Associate	17487275
Squamous Cell Carcinoma of Head and Neck	Associate	25048361
Stomach Diseases	Associate	23717541, 37477937
Stomach Neoplasms	Associate	26182300, 33620602
Streptococcal Infections	Associate	9362524
Stroke	Associate	30972844
Systemic Inflammatory Response Syndrome	Associate	30134173
Thyroid Neoplasms	Associate	21979946, 22889736
Thyroiditis	Associate	18678321
Triple X syndrome	Associate	37245000
Urinary Bladder Diseases	Associate	25683602, 26457353, 27819762
Urinary Bladder Neoplasms	Associate	26170485
Uterine Cervical Neoplasms	Associate	17986283
Visceral myopathy familial external ophthalmoplegia	Associate	36232299
Vision Disorders	Associate	38152133
von Hippel Lindau Disease	Associate	22573489
Wilms Tumor	Associate	22974104