Disease table of PHEOCHROMOCYTOMA OMIM ID: 171300

Gene-disease associations table

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Gene	Associated with PHEOCHROMOCYTOMA in	Link to HGNC	Cytogenetic band	Number of associated diseases	Associated diseases
GDNF	OMIM	HGNC link	5p13.2	3	171300, PS142623, 209880
KIF1B	OMIM	HGNC link	1p36.22	3	PS118220, 256700, 171300
MAX	OMIM	HGNC link	14q23.3	1	171300
RET	OMIM, HUMSAVAR	HGNC link	10q11.21	6	171300, 155240, PS142623, 209880, 191830, PS131100
SDHB	OMIM, HUMSAVAR	HGNC link	1p36.13	6	171300, 604287, 606764, 606864, PS168000, PS158350
SDHD	OMIM, HUMSAVAR	HGNC link	11q23.1	6	252011, PS168000, 606864, 114900, 171300, PS158350
TMEM127	OMIM, HUMSAVAR	HGNC link	2q11.2	1	171300
VHL	OMIM, HUMSAVAR	HGNC link	3p25.3	4	193300, 144700, PS133100, 171300

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Download the disease annotation in CSV format

Relations among genes:

Tandem repeat annotations from DGD

Cytogenetic band analysis

By band

Shared band	Number of genes associated with the disease	Genes associated with the disease
1p36	2	SDHB, KIF1B

By region

Shared region	Number of genes associated with the disease	Genes associated with the disease
1p3	2	SDHB, KIF1B

By arm

Shared arm	Number of genes associated with the disease	Genes associated with the disease
1p	2	SDHB, KIF1B

By chromosome

Shared chromosome	Number of genes associated with the disease	Genes associated with the disease
1	2	SDHB, KIF1B

Transcription Factors (TF) annotation from TRRUST

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TF	associated to this disease	# regulated genes	Regulated genes	# regulated genes associated with this disease	Regulated genes associated with this disease
MAX	YES	4	HTR1A, ODC1, FASLG, BRD7	0
VHL	YES	18	CA9, STRA13, TCF4, TFRC, ANGPT2, CXCR4, CCND1, DAB2, KLF10, CDKN1C, CA12, TP53, NMU, HIF1A, SPARC, VEGFA, IGF1R, CDKN1B	0
HIF1A	NO	80	RORA, SERPINE1, MICA, MET, WASF3, PLAU, AR, TWIST1, FAM162A, MMP2, SLC2A1, PFKFB4, EDN1, PGK1, LOX, HBEGF, FGF2, SETD2, XPC, ACE, MDK, ACE2, ERCC2, GCK, TLR2, ALOX5AP, LDHA, CXCR4, SOCS1, PPP1R3C, EDNRB, EGLN1, ALDOA, SLC29A1, AGTR1, PFKFB3, LEP, PPARA, ENO1, VHL, TWIST2, E2F3, PTGES, GAPDH, BID, MIF, CA9, CDH1, TIMP2, VIM, ALAS2, ITGB2, NT5E, CTGF, TLR6, CCR7, VEGFB, APEX1, MUC3A, EPO, MUC1, TFRC, BAX, ABCB1, NR3C1, BNIP3, RECK, TGFB3, ASS1, NR4A1, MYOCD, EGLN3, TERT, SDHB, BACE1, ZNF217, CCND1, VEGFA, CXCL12, HIF1A	2	VHL, SDHB

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regulated gene	associated to this disease	# TFs	TFs
RET	YES	5	TFAP2C, SOX9, ESR1, SOX10, FOXA1
VHL	YES	1	HIF1A
GDNF	YES	2	NFKB1, EGR1
SDHB	YES	4	NRF1, NFE2L2, PLAGL1, HIF1A

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Interactions from BIOGRID - physical

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Gene1	Gene2	Direct Interaction	Number of shared interactors	Shared genes in interaction
TMEM127	KIF1B	No	1	ELAVL1
TMEM127	VHL	No	1	ELAVL1
KIF1B	VHL	No	4	PARD6A, PSMC3, ELAVL1, APP
MAX	RET	No	1	HSP90AA1
MAX	VHL	No	12	HSPA1A, HNRNPU, HSP90AA1, HNRNPH2, TUBA1A, SAP130, COPS5, EPAS1, KAT5, EP300, MYC, HIF1A
MAX	GDNF	No	1	COPS5
MAX	SDHB	No	1	COPS5
RET	VHL	No	2	HNRNPD, HSP90AA1
RET	GDNF	No	1	GFRA1
VHL	GDNF	No	1	COPS5

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Direct interactions graph
Interactions graph (direct and indirect interactions, when direct are not available)

Interactions from BIOGRID - genetic

Interactions from STRING

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Gene1	Gene2	Direct Interaction	Interaction mode	Number of shared interactors	Shared genes in interaction
RET	GDNF	Yes	activation, binding	38	PTPN11, RASA1, SHANK3, GRB7, PXN, CTNND1, CREB1, NRTN, RAP1A, PRKACA, CTNNA1, MAPK8, CRK, GFRA2, PIK3CA, CTNNB1, SOS1, SHC1, PRKCA, HRAS, CDH1, GRB2, DOK1, SRC, GAB1, NCK1, PSPN, PDLIM7, PAX2, IRS1, GRB10, PIK3R1, BCAR1, DOK6, GFRA1, FRS2, DOK4, DOK5
SDHB	SDHD	Yes	binding	2	SDHC, SDHA
MAX	RET	No	-	1	MAPK14
MAX	VHL	No	-	11	EP300, HDAC1, HDAC2, TP53, CLU, MXI1, HSP90AA1, IREB2, KAT5, GSK3B, MYC
MAX	GDNF	No	-	1	KAT5
RET	VHL	No	-	3	UBC, PTPRJ, CDH1
RET	SDHB	No	-	1	UBC
VHL	GDNF	No	-	2	KAT5, CDH1
VHL	SDHB	No	-	1	UBC

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Direct interactions graph
Interactions graph (direct and indirect interactions, when direct are not available)

Interactions from CORUM

Interactions from CENSUS

Interactions from PDB

Gene1	Gene2	Interaction	Number of common interactors	Common genes in interaction
RET	GDNF	Yes	2	RET, GDNF

Direct interactions graph
Interactions graph (direct and indirect interactions, when direct are not available)

Interactions from manually curated literature

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Gene1	Gene2	Direct interaction	More information
SDHB	SDHD	yes, complex	Components of complex II composed of four subunits: the flavoprotein (FP) SDHA, iron-sulfur protein (IP) SDHB, and a cytochrome b560 composed of SDHC and SDHD. [UniProt]

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KEGG pathways annotation: shared terms / NET-GE enrichment

Shared terms

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KEGG term	KEGG term ID	IC	Number of genes with the same term	Genes
Citrate cycle (TCA cycle)	hsa00020	7.86	2	SDHD, SDHB
Carbon metabolism	hsa01200	6.03	2	SDHD, SDHB
Oxidative phosphorylation	hsa00190	5.69	2	SDHD, SDHB
Parkinson's disease	hsa05012	5.59	2	SDHD, SDHB
Non-alcoholic fatty liver disease (NAFLD)	hsa04932	5.51	2	SDHD, SDHB
Alzheimer's disease	hsa05010	5.34	2	SDHD, SDHB
Huntington's disease	hsa05016	5.17	2	SDHD, SDHB
Pathways in cancer	hsa05200	3.98	3	MAX, VHL, RET
Metabolic pathways	hsa01100	2.49	2	SDHD, SDHB

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NET-GE enrichment

Term	New enriched term	IC	P value	Genes
Citrate cycle (TCA cycle) (hsa00020)	-	7.86	0.006	SDHD, SDHB

REACTOME pathways annotation: shared terms / NET-GE enrichment

Shared terms

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REACTOME term	REACTOME term ID	IC	Number of genes with the same term	Genes
Citric acid cycle (TCA cycle)	R-HSA-71403	8.73	2	SDHD, SDHB
Pyruvate metabolism and Citric Acid (TCA) cycle	R-HSA-71406	7.56	2	SDHD, SDHB
Respiratory electron transport	R-HSA-611105	6.44	2	SDHD, SDHB
Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.	R-HSA-163200	6.12	2	SDHD, SDHB
The citric acid (TCA) cycle and respiratory electron transport	R-HSA-1428517	5.71	2	SDHD, SDHB
Metabolism	R-HSA-1430728	2.34	2	SDHD, SDHB

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NET-GE enrichment

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Term	New enriched term	IC	P value	Genes
Citric acid cycle (TCA cycle) (R-HSA-71403)	-	8.73	0.001	SDHD, SDHB
Pyruvate metabolism and Citric Acid (TCA) cycle (R-HSA-71406)	-	7.56	0.007	SDHD, SDHB
Respiratory electron transport (R-HSA-611105)	-	6.44	0.033	SDHD, SDHB

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GO - molecular function annotation: shared terms / NET-GE enrichment

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GO	IC	Number of genes with the same GO	Genes
ubiquinone binding (GO:0048039)	8.35	2	SDHD, SDHB
succinate dehydrogenase activity (GO:0000104)	8.13	2	SDHD, SDHB
quinone binding (GO:0048038)	6.91	2	SDHD, SDHB
oxidoreductase activity, acting on the CH-CH group of donors (GO:0016627)	5.66	2	SDHD, SDHB
electron carrier activity (GO:0009055)	4.97	2	SDHD, SDHB
Ras guanyl-nucleotide exchange factor activity (GO:0005088)	4.31	2	RET, GDNF
cofactor binding (GO:0048037)	4.16	2	SDHD, SDHB
guanyl-nucleotide exchange factor activity (GO:0005085)	4.02	2	RET, GDNF
protein homodimerization activity (GO:0042803)	3.16	2	MAX, GDNF
oxidoreductase activity (GO:0016491)	3.12	2	SDHD, SDHB

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NET-GE enrichment

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Term	New enriched term	IC	P value	Genes
ubiquinone binding (GO:0048039)	-	8.35	0.0	SDHD, SDHB
succinate dehydrogenase activity (GO:0000104)	-	8.13	0.0	SDHD, SDHB
quinone binding (GO:0048038)	-	6.91	0.015	SDHD, SDHB
oxidoreductase activity, acting on the CH-CH group of donors (GO:0016627)	-	5.66	0.032	SDHD, SDHB

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GO - biological process annotation: shared terms / NET-GE enrichment

Shared terms

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GO	IC	Number of genes with the same GO	Genes
enteric nervous system development (GO:0048484)	7.33	2	RET, GDNF
positive regulation of metanephros development (GO:0072216)	7.09	2	RET, GDNF
regulation of metanephros development (GO:0072215)	6.59	2	RET, GDNF
embryonic epithelial tube formation (GO:0001838)	6.4	2	RET, GDNF
epithelial tube formation (GO:0072175)	6.36	2	RET, GDNF
tricarboxylic acid cycle (GO:0006099)	6.33	2	SDHD, SDHB
positive regulation of kidney development (GO:0090184)	6.02	2	RET, GDNF
metanephros development (GO:0001656)	6.02	2	RET, GDNF
ureteric bud development (GO:0001657)	5.97	2	RET, GDNF
regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)	5.86	2	RET, GDNF

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NET-GE enrichment

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Term	New enriched term	IC	P value	Genes
lymphocyte migration into lymphoid organs (GO:0097021)	NEW	8.63	0.002	RET, GDNF
Peyers patch morphogenesis (GO:0061146)	NEW	8.63	0.005	RET, GDNF
autonomic nervous system development (GO:0048483)	NEW	8.12	0.017	RET, GDNF
enteric nervous system development (GO:0048484)	-	7.33	0.048	RET, GDNF
regulation of metanephros development (GO:0072215)	-	6.59	0.021	RET, GDNF
embryonic epithelial tube formation (GO:0001838)	-	6.4	0.027	RET, GDNF
epithelial tube formation (GO:0072175)	-	6.36	0.029	RET, GDNF
tricarboxylic acid cycle (GO:0006099)	-	6.33	0.033	SDHD, SDHB
metanephros development (GO:0001656)	-	6.02	0.049	RET, GDNF
neural crest cell migration (GO:0001755)	-	5.76	0.049	RET, GDNF

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GO - cellular component annotation: shared terms / NET-GE enrichment

Shared terms

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GO	IC	Number of genes with the same GO	Genes
fumarate reductase complex (GO:0045283)	8.42	2	SDHD, SDHB
succinate dehydrogenase complex (GO:0045281)	8.42	2	SDHD, SDHB
succinate dehydrogenase complex (ubiquinone) (GO:0045257)	8.42	2	SDHD, SDHB
mitochondrial respiratory chain complex II, succinate dehydrogenase complex (ubiquinone) (GO:0005749)	8.42	2	SDHD, SDHB
respiratory chain complex (GO:0098803)	5.47	2	SDHD, SDHB
oxidoreductase complex (GO:1990204)	5.19	2	SDHD, SDHB
inner mitochondrial membrane protein complex (GO:0098800)	5.01	2	SDHD, SDHB
mitochondrial protein complex (GO:0098798)	4.78	2	SDHD, SDHB
mitochondrial membrane part (GO:0044455)	4.54	2	SDHD, SDHB
early endosome (GO:0005769)	4.34	2	TMEM127, RET

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NET-GE enrichment

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Term	New enriched term	IC	P value	Genes
succinate dehydrogenase complex (ubiquinone) (GO:0045257)	-	8.42	0.0	SDHD, SDHB
mitochondrial respiratory chain complex II (GO:0005749)	-	8.42	0.0	SDHD, SDHB
fumarate reductase complex (GO:0045283)	-	8.42	0.0	SDHD, SDHB
succinate dehydrogenase complex (GO:0045281)	-	8.42	0.0	SDHD, SDHB
oxidoreductase complex (GO:1990204)	-	5.19	0.048	SDHD, SDHB

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