MCID: GLM008
MIFTS: 48

Glomus Tumor

Categories: Cancer diseases, Cardiovascular diseases, Rare diseases

Aliases & Classifications for Glomus Tumor

MalaCards integrated aliases for Glomus Tumor:

Name: Glomus Tumor 12 58 54 6 44 15 70
Glomus Neoplasm 12
Glomus Tumour 12

Characteristics:

Orphanet epidemiological data:

58
glomus tumor
Age of onset: All ages;

Classifications:



External Ids:

Disease Ontology 12 DOID:2431
MeSH 44 D005918
NCIt 50 C3060
SNOMED-CT 67 189193002
ICD10 via Orphanet 33 D18.0
UMLS via Orphanet 71 C0017653
Orphanet 58 ORPHA391651
UMLS 70 C0017653

Summaries for Glomus Tumor

Disease Ontology : 12 A hemangiopericytic tumor that is a mesenchymal neoplasm composed of cells that closely resemble the modified smooth muscle cells of the normal glomus body.

MalaCards based summary : Glomus Tumor, also known as glomus neoplasm, is related to paragangliomas 1 and glomangiosarcoma. An important gene associated with Glomus Tumor is SDHD (Succinate Dehydrogenase Complex Subunit D), and among its related pathways/superpathways are Cytoskeletal Signaling and Interleukin-4 and 13 signaling. The drugs Mechlorethamine and Doxorubicin have been mentioned in the context of this disorder. Affiliated tissues include breast, trachea and kidney, and related phenotypes are cellular and normal

Wikipedia : 73 A glomus tumor (also known as a "solitary glomus tumor," "solid glomus tumor,") is a rare neoplasm... more...

Related Diseases for Glomus Tumor

Diseases related to Glomus Tumor via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 615)
# Related Disease Score Top Affiliating Genes
1 paragangliomas 1 32.1 SDHD SDHB
2 glomangiosarcoma 31.4 SYP GLMN CD34 CALD1
3 rare tumor 31.3 DES ACTC1
4 glomangiomatosis 31.2 TP53 SYP CD34 CALD1
5 subungual glomus tumor 31.1 TLE1 SYP GLMN CD34 CALD1
6 carcinoid syndrome 30.7 SYP SDHD ENO2
7 paraganglioma 30.6 SYP SDHD SDHB ENO2
8 glomangioma 30.5 VIM SYP S100A1 GLMN DES CD34
9 neuroma 30.5 MUC1 ENO2 CD34
10 mesenchymal cell neoplasm 30.4 TP53 CD34 CALD1
11 nodular hidradenoma 30.4 VIM MUC1
12 sclerosing hemangioma 30.3 SYP MUC1 ENO2
13 fibromatosis 30.3 VIM DES ACTC1
14 leiomyoma 30.1 VIM S100A1 DES CD34 ACTC1
15 epithelioid hemangioendothelioma 30.1 CALB2 ACTC1
16 lipomatosis, multiple 30.1 DES CD34 CALD1
17 gastric leiomyosarcoma 30.1 SDHD SDHB
18 squamous cell papilloma 30.0 TP53 CDKN2A
19 penile benign neoplasm 30.0 TP53 CDKN2A
20 acral lentiginous melanoma 30.0 VIM MUC1 CDKN2A
21 mature teratoma 30.0 TP53 SYP ENO2
22 neuroendocrine tumor 30.0 SYP SDHD SDHB ENO2
23 myoblastoma 30.0 SYP ENO2 CALB2
24 pheochromocytoma-paraganglioma 29.9 SDHD SDHB
25 cranial nerve palsy 29.9 SYP SDHD SDHB
26 hemangioma 29.9 VIM TP53 SYP MUC1 ENO2 CD34
27 angiomyoma 29.9 ENO2 CD34 CALD1
28 tuberous sclerosis 29.8 VIM TP53 SYP ENO2
29 papillary carcinoma 29.8 SYP S100A1 MUC1 CALB2
30 oncocytoma 29.7 VIM SYP SDHB S100A1 MUC1
31 chondroma 29.7 SDHD SDHB S100A1 ACTC1
32 adenoma 29.7 TP53 SYP MUC1 CDKN2A
33 intravenous leiomyomatosis 29.7 DES CD34 CALD1
34 spiradenoma 29.7 VIM TP53 S100A1 MUC1 ACTC1
35 vascular cancer 29.7 TP53 SYP CD34 CALD1
36 malignant mesenchymoma 29.7 DES CD34 CALD1
37 chondromyxoid fibroma 29.7 VIM S100A1 DES CDKN2A ACTC1
38 connective tissue benign neoplasm 29.6 TP53 ENO2 CD34 CALD1 CALB2
39 merkel cell carcinoma 29.5 TP53 SYP MUC1 ENO2 CDKN2A
40 neurilemmoma 29.4 VIM S100A1 MUC1 ENO2 DES CD34
41 cavernous hemangioma 29.4 VIM SYP S100A1 MUC1 DES CD34
42 lung leiomyosarcoma 29.3 SYP CD34 CALD1 CALB2
43 infantile myofibromatosis 29.3 VIM DES CD34 CALD1 ACTC1
44 fibroma 29.3 VIM S100A1 DES CD34 CALB2 ACTC1
45 hemangiopericytoma, malignant 29.3 VIM TLE1 SYP MUC1 ENO2 DES
46 pleomorphic adenoma 29.2 VIM TP53 S100A1 MUC1 DES CDKN2A
47 sarcoma, synovial 29.2 VIM TLE1 MUC1 DES CD34 CALB2
48 glomangiomyoma 29.2 VIM SYP GLMN CD34 CALD1 ACTC1
49 teratoma 29.2 TP53 SYP ENO2 CDKN2A CALB2 ACTC1
50 leiomyosarcoma 29.1 VIM TP53 S100A1 MUC1 ENO2 DES

Graphical network of the top 20 diseases related to Glomus Tumor:



Diseases related to Glomus Tumor

Symptoms & Phenotypes for Glomus Tumor

MGI Mouse Phenotypes related to Glomus Tumor:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.65 ACTC1 CD34 CDKN2A DES ENO2 GLMN
2 normal MP:0002873 9.23 ACTC1 CALB2 S100A1 SDHB SDHD SYP

Drugs & Therapeutics for Glomus Tumor

Drugs for Glomus Tumor (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 10)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Mechlorethamine Approved, Investigational Phase 2, Phase 3 51-75-2 4033
2
Doxorubicin Approved, Investigational Phase 2, Phase 3 23214-92-8 31703
3
Cyclophosphamide Approved, Investigational Phase 2, Phase 3 50-18-0, 6055-19-2 2907
4
Daunorubicin Approved Phase 2, Phase 3 20830-81-3 30323
5
Ifosfamide Approved Phase 2, Phase 3 3778-73-2 3690
6
Isophosphamide mustard Phase 2, Phase 3 100427
7
Liposomal doxorubicin Phase 2, Phase 3 31703
8 Antibiotics, Antitubercular Phase 2, Phase 3
9 Alkylating Agents Phase 2, Phase 3
10 Anti-Bacterial Agents Phase 2, Phase 3

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Pazopanib Neoadjuvant Trial in Non-Rhabdomyosarcoma Soft Tissue Sarcomas (PAZNTIS): A Phase II/III Randomized Trial of Preoperative Chemoradiation or Preoperative Radiation Plus or Minus Pazopanib (NSC# 737754) Active, not recruiting NCT02180867 Phase 2, Phase 3 Doxorubicin;Doxorubicin Hydrochloride;Ifosfamide;Pazopanib;Pazopanib Hydrochloride
2 A Phase I/IIA, Multi-Centre, Open-Label, Dose-Escalation Study With Expansion Arms to Assess the Safety, Tolerability, Pharmacokinetics and Preliminary Efficacy of CB-103 Administered Orally in Adult Patients With Advanced or Metastatic Solid Tumours and Haematological Malignancies Characterised by Alterations of the NOTCH Signalling Pathway Recruiting NCT03422679 Phase 1, Phase 2 CB-103

Search NIH Clinical Center for Glomus Tumor

Cochrane evidence based reviews: glomus tumor

Genetic Tests for Glomus Tumor

Anatomical Context for Glomus Tumor

MalaCards organs/tissues related to Glomus Tumor:

40
Breast, Trachea, Kidney, Lung, Smooth Muscle, Skin, Ovary

Publications for Glomus Tumor

Articles related to Glomus Tumor:

(show top 50) (show all 1729)
# Title Authors PMID Year
1
Germ-line mutations in nonsyndromic pheochromocytoma. 54 6
12000816 2002
2
Variant type is associated with disease characteristics in SDHB, SDHC and SDHD-linked phaeochromocytoma-paraganglioma. 6
31492822 2020
3
Metabolome-guided genomics to identify pathogenic variants in isocitrate dehydrogenase, fumarate hydratase, and succinate dehydrogenase genes in pheochromocytoma and paraganglioma. 6
30050099 2019
4
The impact of variant classification on the clinical management of hereditary cancer syndromes. 6
29875428 2019
5
Tumour risks and genotype-phenotype correlations associated with germline variants in succinate dehydrogenase subunit genes SDHB, SDHC and SDHD. 6
29386252 2018
6
Cardiac paraganglioma with a novel germline mutation of succinate dehydrogenase gene D. 6
28977582 2017
7
Germline mutations and genotype-phenotype correlation in Asian Indian patients with pheochromocytoma and paraganglioma. 6
27539324 2016
8
Identification of eight novel SDHB, SDHC, SDHD germline variants in Danish pheochromocytoma/paraganglioma patients. 6
27279923 2016
9
Recommendations for somatic and germline genetic testing of single pheochromocytoma and paraganglioma based on findings from a series of 329 patients. 6
26269449 2015
10
A recessive homozygous p.Asp92Gly SDHD mutation causes prenatal cardiomyopathy and a severe mitochondrial complex II deficiency. 6
26008905 2015
11
SDHB/SDHA immunohistochemistry in pheochromocytomas and paragangliomas: a multicenter interobserver variation analysis using virtual microscopy: a Multinational Study of the European Network for the Study of Adrenal Tumors (ENS@T). 6
25720320 2015
12
Heterogeneous genetic background of the association of pheochromocytoma/paraganglioma and pituitary adenoma: results from a large patient cohort. 6
25494863 2015
13
Challenges in the diagnosis of pheochromocytoma and paraganglioma syndrome. 6
25275255 2014
14
Identification of somatic VHL gene mutations in sporadic head and neck paragangliomas in association with activation of the HIF-1α/miR-210 signaling pathway. 6
23902947 2013
15
Genetic testing in head and neck paraganglioma: who, what, and why? 6
24436918 2013
16
Paraganglioma of the carotid body: treatment strategy and SDH-gene mutations. 6
23433498 2013
17
Inherited mutations in pheochromocytoma and paraganglioma: why all patients should be offered genetic testing. 6
23512077 2013
18
Yeast model for evaluating the pathogenic significance of SDHB, SDHC and SDHD mutations in PHEO-PGL syndrome. 6
23175444 2013
19
Exon-level array CGH in a large clinical cohort demonstrates increased sensitivity of diagnostic testing for Mendelian disorders. 6
22382802 2012
20
Screening of mutations in genes that predispose to hereditary paragangliomas and pheochromocytomas. 6
22517554 2012
21
The endemic paraganglioma syndrome type 1: origin, spread, and clinical expression. 6
22456618 2012
22
Head and neck paragangliomas: genetic spectrum and clinical variability in 79 consecutive patients. 6
22241717 2012
23
High prevalence of founder mutations of the succinate dehydrogenase genes in the Netherlands. 6
21348866 2012
24
Common genetic mutations in the start codon of the SDH subunit D gene among Chinese families with familial head and neck paragangliomas. 6
21945342 2012
25
Molecular analysis of pheochromocytoma after maternal transmission of SDHD mutation elucidates mechanism of parent-of-origin effect. 6
21937622 2011
26
Novel SDHD gene mutation (H102R) in a patient with metastatic cervical paraganglioma effectively treated by peptide receptor radionuclide therapy. 6
22025150 2011
27
Is the c.3G>C mutation in the succinate dehydrogenase subunit D (SDHD) gene due to a founder effect in Chinese head and neck paraganglioma patients? 6
21792967 2011
28
Identification of a 4.9-kilo base-pair Alu-mediated founder SDHD deletion in two extended paraganglioma families from Austria. 6
20111059 2010
29
Paraganglioma syndrome type 1 in a patient with Carney-Stratakis syndrome. 6
20098451 2010
30
Tumor risks and genotype-phenotype-proteotype analysis in 358 patients with germline mutations in SDHB and SDHD. 6
19802898 2010
31
The Dutch founder mutation SDHD.D92Y shows a reduced penetrance for the development of paragangliomas in a large multigenerational family. 6
19584903 2010
32
Clinical predictors and algorithm for the genetic diagnosis of pheochromocytoma patients. 6
19825962 2009
33
The succinate dehydrogenase genetic testing in a large prospective series of patients with paragangliomas. 6
19454582 2009
34
Genetics of pheochromocytoma and paraganglioma in Spanish patients. 6
19258401 2009
35
Diagnosis and management of hereditary paraganglioma syndrome due to the F933>X67 SDHD mutation. 6
19072999 2009
36
Clinical predictors for germline mutations in head and neck paraganglioma patients: cost reduction strategy in genetic diagnostic process as fall-out. 6
19351833 2009
37
Mediastinal paragangliomas: association with mutations in the succinate dehydrogenase genes and aggressive behavior. 6
19075037 2009
38
Impact of screening kindreds for SDHD p.Cys11X as a common mutation associated with paraganglioma syndrome type 1. 6
18826997 2008
39
High prevalence of SDHB mutations in head and neck paraganglioma in Belgium. 6
18551016 2008
40
Paraganglioma after maternal transmission of a succinate dehydrogenase gene mutation. 6
18211978 2008
41
Mutations associated with succinate dehydrogenase D-related malignant paragangliomas. 6
17973943 2008
42
W43X SDHD mutation in sporadic head and neck paraganglioma. 6
18561749 2008
43
Clinical and molecular genetics of patients with the Carney-Stratakis syndrome and germline mutations of the genes coding for the succinate dehydrogenase subunits SDHB, SDHC, and SDHD. 6
17667967 2008
44
High frequency of germline succinate dehydrogenase mutations in sporadic cervical paragangliomas in northern Spain: mitochondrial succinate dehydrogenase structure-function relationships and clinical-pathological correlations. 6
17848412 2007
45
Systematic screening and treatment evaluation of hereditary neck paragangliomas. 6
17563904 2007
46
Novel SDHD germ-line mutations in pheochromocytoma patients. 6
17576205 2007
47
A Chinese family with familial paraganglioma syndrome due to succinate dehydrogenase deficiency. 6
17406045 2007
48
Clinical presentation and penetrance of pheochromocytoma/paraganglioma syndromes. 6
16317055 2006
49
Genetic testing in pheochromocytoma or functional paraganglioma. 6
16314641 2005
50
Carotid body paraganglioma and SDHD mutation in a Greek family. 6
16080474 2005

Variations for Glomus Tumor

ClinVar genetic disease variations for Glomus Tumor:

6 (show top 50) (show all 305)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SDHD SDHD, 96-KB DEL Deletion Pathogenic 6914 GRCh37:
GRCh38:
2 SDHD NM_003002.3(SDHD):c.-84_*831del Deletion Pathogenic 239459 GRCh37: 11:111957548-111966525
GRCh38: 11:112086824-112095801
3 SDHD NM_003002.4(SDHD):c.106C>T (p.Gln36Ter) SNV Pathogenic 6892 rs104894303 GRCh37: 11:111958634-111958634
GRCh38: 11:112087910-112087910
4 SDHD NM_003002.4(SDHD):c.52+2T>G SNV Pathogenic 6894 rs587776644 GRCh37: 11:111957685-111957685
GRCh38: 11:112086961-112086961
5 SDHD NM_003002.4(SDHD):c.337_338insT (p.Asp113fs) Insertion Pathogenic 6899 rs587776645 GRCh37: 11:111965551-111965552
GRCh38: 11:112094827-112094828
6 SDHD NM_003002.4(SDHD):c.443del (p.Gly148fs) Deletion Pathogenic 6902 rs587776646 GRCh37: 11:111965655-111965655
GRCh38: 11:112094931-112094931
7 SDHD NM_003002.4(SDHD):c.278_280del (p.Tyr93del) Deletion Pathogenic 6905 rs121908983 GRCh37: 11:111959698-111959700
GRCh38: 11:112088974-112088976
8 SDHD NM_003002.4(SDHD):c.416T>C (p.Leu139Pro) SNV Pathogenic 6907 rs80338847 GRCh37: 11:111965630-111965630
GRCh38: 11:112094906-112094906
9 SDHD NM_003002.4(SDHD):c.463del (p.Met155fs) Deletion Pathogenic 6910 rs587776647 GRCh37: 11:111965677-111965677
GRCh38: 11:112094953-112094953
10 SDHD NM_003002.4(SDHD):c.315G>A (p.Trp105Ter) SNV Pathogenic 412497 rs1060503769 GRCh37: 11:111965529-111965529
GRCh38: 11:112094805-112094805
11 SDHD NM_003002.4(SDHD):c.336dup (p.Asp113Ter) Duplication Pathogenic 547770 rs1555187583 GRCh37: 11:111965549-111965550
GRCh38: 11:112094825-112094826
12 SDHD NG_012337.3(SDHD):g.11847_14024del Deletion Pathogenic 598762 GRCh37: 11:111964415-111966592
GRCh38: 11:112093691-112095868
13 SDHD NM_003002.4(SDHD):c.112C>T (p.Arg38Ter) SNV Pathogenic 6893 rs80338843 GRCh37: 11:111958640-111958640
GRCh38: 11:112087916-112087916
14 SDHD NM_003002.4(SDHD):c.242C>T (p.Pro81Leu) SNV Pathogenic 6896 rs80338844 GRCh37: 11:111959663-111959663
GRCh38: 11:112088939-112088939
15 SDHD NM_003002.4(SDHD):c.274G>T (p.Asp92Tyr) SNV Pathogenic 6897 rs80338845 GRCh37: 11:111959695-111959695
GRCh38: 11:112088971-112088971
16 SDHD NM_003002.4(SDHD):c.305A>T (p.His102Leu) SNV Pathogenic 6898 rs104894302 GRCh37: 11:111959726-111959726
GRCh38: 11:112089002-112089002
17 SDHD NM_003002.4(SDHD):c.341A>G (p.Tyr114Cys) SNV Pathogenic 6900 rs104894304 GRCh37: 11:111965555-111965555
GRCh38: 11:112094831-112094831
18 SDHD NM_003002.4(SDHD):c.95C>A (p.Ser32Ter) SNV Pathogenic 6901 rs104894305 GRCh37: 11:111958623-111958623
GRCh38: 11:112087899-112087899
19 SDHD NM_003002.4(SDHD):c.64C>T (p.Arg22Ter) SNV Pathogenic 6903 rs104894306 GRCh37: 11:111958592-111958592
GRCh38: 11:112087868-112087868
20 SDHD NM_003002.4(SDHD):c.3G>C (p.Met1Ile) SNV Pathogenic 6906 rs80338842 GRCh37: 11:111957634-111957634
GRCh38: 11:112086910-112086910
21 SDHD NM_003002.4(SDHD):c.92_93TC[1] (p.Ala33fs) Microsatellite Pathogenic 6908 rs397514034 GRCh37: 11:111958620-111958621
GRCh38: 11:112087896-112087897
22 SDHD NM_003002.4(SDHD):c.337_340del (p.Asp113fs) Deletion Pathogenic 6912 rs587776648 GRCh37: 11:111965548-111965551
GRCh38: 11:112094824-112094827
23 SDHD NM_003002.4(SDHD):c.129G>A (p.Trp43Ter) SNV Pathogenic 6913 rs104894308 GRCh37: 11:111958657-111958657
GRCh38: 11:112087933-112087933
24 SDHD NM_003002.4(SDHD):c.112C>T (p.Arg38Ter) SNV Pathogenic 6893 rs80338843 GRCh37: 11:111958640-111958640
GRCh38: 11:112087916-112087916
25 SDHD NM_003002.4(SDHD):c.242del (p.Pro81fs) Deletion Pathogenic 239464 rs878854591 GRCh37: 11:111959662-111959662
GRCh38: 11:112088938-112088938
26 SDHD NM_003002.4(SDHD):c.361C>T (p.Gln121Ter) SNV Pathogenic 239470 rs878854594 GRCh37: 11:111965575-111965575
GRCh38: 11:112094851-112094851
27 SDHD NM_003002.4(SDHD):c.10dup (p.Leu4fs) Duplication Pathogenic 239460 rs878854589 GRCh37: 11:111957640-111957641
GRCh38: 11:112086916-112086917
28 SDHD NM_003002.4(SDHD):c.325C>T (p.Gln109Ter) SNV Pathogenic 412498 rs1060503770 GRCh37: 11:111965539-111965539
GRCh38: 11:112094815-112094815
29 SDHD NM_003002.4(SDHD):c.1A>G (p.Met1Val) SNV Pathogenic 6911 rs104894307 GRCh37: 11:111957632-111957632
GRCh38: 11:112086908-112086908
30 SDHD NM_003002.4(SDHD):c.173del (p.Gly58fs) Deletion Pathogenic 239461 rs878854590 GRCh37: 11:111959593-111959593
GRCh38: 11:112088869-112088869
31 SDHD NM_003002.4(SDHD):c.33C>A (p.Cys11Ter) SNV Pathogenic 6915 rs104894309 GRCh37: 11:111957664-111957664
GRCh38: 11:112086940-112086940
32 SDHD NM_003002.4(SDHD):c.342T>A (p.Tyr114Ter) SNV Pathogenic 438437 rs1050032491 GRCh37: 11:111965556-111965556
GRCh38: 11:112094832-112094832
33 SDHD NM_003002.4(SDHD):c.129G>A (p.Trp43Ter) SNV Pathogenic 6913 rs104894308 GRCh37: 11:111958657-111958657
GRCh38: 11:112087933-112087933
34 SDHD NM_003002.4(SDHD):c.242C>T (p.Pro81Leu) SNV Pathogenic 6896 rs80338844 GRCh37: 11:111959663-111959663
GRCh38: 11:112088939-112088939
35 SDHD NM_003002.4(SDHD):c.187_188TC[2] (p.Leu64fs) Microsatellite Pathogenic 6904 rs387906358 GRCh37: 11:111959608-111959609
GRCh38: 11:112088884-112088885
36 SDHD NM_003002.4(SDHD):c.170-1G>T SNV Pathogenic 438434 rs1306475361 GRCh37: 11:111959590-111959590
GRCh38: 11:112088866-112088866
37 SDHD NM_003002.4(SDHD):c.57del (p.Leu20fs) Deletion Pathogenic 6917 rs587776649 GRCh37: 11:111958585-111958585
GRCh38: 11:112087861-112087861
38 SDHD NM_003002.4(SDHD):c.64C>T (p.Arg22Ter) SNV Pathogenic 6903 rs104894306 GRCh37: 11:111958592-111958592
GRCh38: 11:112087868-112087868
39 SDHD NM_003002.4(SDHD):c.305A>T (p.His102Leu) SNV Pathogenic 6898 rs104894302 GRCh37: 11:111959726-111959726
GRCh38: 11:112089002-112089002
40 SDHD NC_000011.10:g.(?_112094799)_(112094976_?)del Deletion Pathogenic 533799 GRCh37: 11:111965523-111965700
GRCh38: 11:112094799-112094976
41 SDHD NM_003002.4(SDHD):c.317G>T (p.Gly106Val) SNV Pathogenic 480806 rs1555187574 GRCh37: 11:111965531-111965531
GRCh38: 11:112094807-112094807
42 SDHD NM_003002.4(SDHD):c.155C>A (p.Ser52Ter) SNV Pathogenic 142068 rs587782210 GRCh37: 11:111958683-111958683
GRCh38: 11:112087959-112087959
43 SDHD NM_003002.4(SDHD):c.341A>G (p.Tyr114Cys) SNV Pathogenic 6900 rs104894304 GRCh37: 11:111965555-111965555
GRCh38: 11:112094831-112094831
44 SDHD NM_003002.4(SDHD):c.3G>A (p.Met1Ile) SNV Pathogenic 579968 rs80338842 GRCh37: 11:111957634-111957634
GRCh38: 11:112086910-112086910
45 SDHD NC_000011.10:g.(?_112086898)_(112094980_?)del Deletion Pathogenic 584168 GRCh37: 11:111957622-111965704
GRCh38: 11:112086898-112094980
46 SDHD NC_000011.10:g.(?_112094795)_(112094980_?)del Deletion Pathogenic 584289 GRCh37: 11:111965519-111965704
GRCh38: 11:112094795-112094980
47 SDHD NM_003002.4(SDHD):c.242C>T (p.Pro81Leu) SNV Pathogenic 6896 rs80338844 GRCh37: 11:111959663-111959663
GRCh38: 11:112088939-112088939
48 SDHD NM_003002.4(SDHD):c.3G>C (p.Met1Ile) SNV Pathogenic 6906 rs80338842 GRCh37: 11:111957634-111957634
GRCh38: 11:112086910-112086910
49 SDHD NM_003002.4(SDHD):c.274G>T (p.Asp92Tyr) SNV Pathogenic 6897 rs80338845 GRCh37: 11:111959695-111959695
GRCh38: 11:112088971-112088971
50 SDHD NM_003002.4(SDHD):c.314G>A (p.Trp105Ter) SNV Pathogenic 428939 rs1131691065 GRCh37: 11:111959735-111959735
GRCh38: 11:112089011-112089011

Expression for Glomus Tumor

Search GEO for disease gene expression data for Glomus Tumor.

Pathways for Glomus Tumor

GO Terms for Glomus Tumor

Cellular components related to Glomus Tumor according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrial respiratory chain complex II, succinate dehydrogenase complex (ubiquinone) GO:0005749 8.62 SDHD SDHB

Biological processes related to Glomus Tumor according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 replicative senescence GO:0090399 9.32 TP53 CDKN2A
2 DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator GO:0006978 9.26 TP53 MUC1
3 positive regulation of transcription from RNA polymerase II promoter in response to stress GO:0036003 9.16 TP53 MUC1
4 muscle filament sliding GO:0030049 9.13 VIM DES ACTC1
5 positive regulation of gene expression GO:0010628 9.1 VIM TP53 TLE1 CDKN2A CD34 ACTC1

Molecular functions related to Glomus Tumor according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transcription factor binding GO:0008134 9.62 TP53 TLE1 CDKN2A CD34
2 p53 binding GO:0002039 9.33 TP53 MUC1 CDKN2A
3 MDM2/MDM4 family protein binding GO:0097371 9.26 TP53 CDKN2A
4 ubiquinone binding GO:0048039 8.96 SDHD SDHB
5 ubiquitin-protein transferase inhibitor activity GO:0055105 8.62 GLMN CDKN2A

Sources for Glomus Tumor

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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