MCID: LMY005
MIFTS: 52

Leiomyomatosis and Renal Cell Cancer malady

Genetic diseases, Rare diseases, Nephrological diseases, Skin diseases, Cancer diseases categories

Aliases & Classifications for Leiomyomatosis and Renal Cell Cancer

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Aliases & Descriptions for Leiomyomatosis and Renal Cell Cancer:

Name: Leiomyomatosis and Renal Cell Cancer 49 11 23
Hereditary Leiomyomatosis and Renal Cell Cancer 21 45 22 23 51 65 67
Hlrcc 21 45 22 23 47 51 67
Multiple Cutaneous and Uterine Leiomyomata 45 23 67
Lrcc 45 23 67
Mcul 45 23 51
Mcl 45 23 67
Hereditary Leiomyomatosis and Renal Cell Carcinoma 23 24
Leiomyomatosis Familial 45 24
Reed's Syndrome 45 23
Multiple Cutaneous and Uterine Leiomyomata 1 with or Without Renal Cell Carcinoma 67
Leiomyomatosis and Renal Cell Cancer Hereditary 67
Hereditary Leiomyomatosis with Renal Carcinoma 51
 
Familial Leiomyomatosis and Renal Cell Cancer 51
Familial Leiomyomatosis with Renal Carcinoma 51
Multiple Cutaneous and Uterine Leiomyomas 51
Hereditary Multiple Cutaneous Leiomyomas 51
Familial Multiple Cutaneous Leiomyomas 51
Familial Leiomyomatosis Cutis Et Uteri 51
Multiple Cutaneous Leiomyomata 45
Multiple Cutaneous Leiomyoma 23
Leiomyoma Multiple Cutaneous 67
Hereditary Leiomyomatosis 51
Familial Leiomyomatosis 45
Reed Syndrome 51
Mcul1 67


Classifications:



Characteristics (Orphanet epidemiological data):

51
hereditary leiomyomatosis and renal cell cancer:
Inheritance: Autosomal dominant; Age of onset: Adolescent,Adult,Elderly


External Ids:

OMIM49 150800
Orphanet51 523
ICD10 via Orphanet28 D23
MeSH36 D018231

Summaries for Leiomyomatosis and Renal Cell Cancer

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OMIM:49 Hereditary leiomyomatosis and renal cell cancer is an autosomal dominant tumor predisposition syndrome characterized by... (150800) more...

MalaCards based summary: Leiomyomatosis and Renal Cell Cancer, also known as hereditary leiomyomatosis and renal cell cancer, is related to renal cell carcinoma and kidney disease, and has symptoms including abnormality of the musculature, neoplasm of the skin and pruritus. An important gene associated with Leiomyomatosis and Renal Cell Cancer is FH (Fumarate Hydratase), and among its related pathways are Citrate cycle (TCA cycle) and Pyruvate metabolism. Affiliated tissues include uterus, skin and kidney.

NIH Rare Diseases:45 Hereditary leiomyomatosis and renal cell cancer (hlrcc) is a condition that causes benign tumors of smooth muscle tissue in the skin (cutaneous leiomyomas) and in the uterus in females (uterine leiomyomas, or fibroids). the condition also increases the risk of kidney cancer. signs and symptoms usually begin in adulthood as skin growths appear on the torso, arms, legs, and occasionally on the face. they tend to increase in size and number over time. about 10% to 16% of people with hlrcc develop a type of kidney cancer called renal cell cancer; symptoms of this cancer may include lower back pain, blood in the urine, and/or a mass in the kidney that can be felt by a physician. some people have no symptoms until the cancer is advanced. hlrcc is caused by mutations in the fh gene and is inherited in an autosomal dominant manner. last updated: 1/9/2014

Genetics Home Reference:23 Hereditary leiomyomatosis and renal cell cancer (HLRCC) is a disorder in which affected individuals tend to develop benign tumors containing smooth muscle tissue (leiomyomas) in the skin and, in females, the uterus. This condition also increases the risk of kidney cancer.

UniProtKB/Swiss-Prot:67 Hereditary leiomyomatosis and renal cell cancer: A disorder characterized by predisposition to cutaneous and uterine leiomyomas, and papillary type 2 renal cancer which occurs in about 20% of patients.

Wikipedia:68 Reed’s syndrome (or familial leiomyomatosis cutis et uteri) is a rare inherited condition... more...

GeneReviews summary for hlrcc

Related Diseases for Leiomyomatosis and Renal Cell Cancer

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Diseases related to Leiomyomatosis and Renal Cell Cancer via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 109)
idRelated DiseaseScoreTop Affiliating Genes
1renal cell carcinoma30.2FH, HIF1A, SDHB
2kidney disease30.0FH, HIF1A, SDHB
3leiomyomatosis11.1
4kidney cancer10.5
5leiomyoma10.5
6uterine fibroid10.4
7male infertility10.4
8infertility10.4
9cerebritis10.3
10renal cell carcinoma, papillary10.3
11leiomyoma, uterine, somatic10.3
12skin conditions10.3
13skin disease10.3
14primary hyperoxaluria10.3
15myofibroma10.3
16intravenous leiomyomatosis10.3
17collecting duct carcinoma10.3
18papillary carcinoma10.3
19uterus intravascular leiomyomatosis10.3
20familial renal papillary carcinoma10.3
21cellular leiomyoma10.3
22leiomyoma cutis10.3
23adenocarcinoma10.3
24cell type cancer10.3
25connective tissue benign neoplasm10.3
26connective tissue cancer10.3
27connective tissue disease10.3
28female reproductive organ cancer10.3
29female reproductive system disease10.3
30hereditary renal cell carcinoma10.3
31muscle tissue disease10.3
32myopathy10.3
33oral cavity cancer10.3
34papillary adenocarcinoma10.3
35plasma cell neoplasm10.3
36reproductive system disease10.3
37skin benign neoplasm10.3
38skin tag10.3
39tyrosinemia10.3
40urinary system disease10.3
41uterine disease10.3
42familial renal cell carcinoma10.3
43oral cancer10.3
44renal cell carcinoma 410.3
45multiple cutaneous and uterine leiomyomas10.3
46hypoxia10.3
47hereditary papillary renal cell carcinoma10.3
48thyroid carcinoma, papillary, with papillary renal neoplasia10.1
49prostate cancer10.1
50hepatocellular carcinoma10.1

Graphical network of the top 20 diseases related to Leiomyomatosis and Renal Cell Cancer:



Diseases related to leiomyomatosis and renal cell cancer

Symptoms for Leiomyomatosis and Renal Cell Cancer

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Symptoms by clinical synopsis from OMIM:

150800

Clinical features from OMIM:

150800

Symptoms:

 51 (show all 10)
  • skin tumors/lumps/epidermal cysts
  • muscle anomalies
  • autosomal dominant inheritance
  • pruritus/itching
  • cataract/lens opacification
  • megaesophagus/cardiospasm/congenital dilation of the esophagus/achalasia
  • esophageal neoplasm/tumor/carcinoma/cancer
  • uterus/uterine/cervix/endometrium neoplasm/tumor/carcinoma/cancer
  • vaginal/vulvar neoplasm/tumor/carcinoma/cancer
  • kidney/renal neoplasm/tumor/carcinoma/cancer

HPO human phenotypes related to Leiomyomatosis and Renal Cell Cancer:

(show all 16)
id Description Frequency HPO Source Accession
1 abnormality of the musculature hallmark (90%) HP:0003011
2 neoplasm of the skin hallmark (90%) HP:0008069
3 pruritus typical (50%) HP:0000989
4 cataract occasional (7.5%) HP:0000518
5 uterine neoplasm occasional (7.5%) HP:0010784
6 vaginal neoplasm occasional (7.5%) HP:0100650
7 esophageal neoplasm occasional (7.5%) HP:0100751
8 cutaneous leiomyosarcoma rare (5%) HP:0006755
9 autosomal dominant inheritance HP:0000006
10 uterine leiomyoma HP:0000131
11 uterine leiomyosarcoma HP:0002891
12 decreased fumarate hydratase activity HP:0003536
13 incomplete penetrance HP:0003829
14 renal cell carcinoma HP:0005584
15 multiple cutaneous leiomyomas HP:0007437
16 cutaneous leiomyoma HP:0007620

Drugs & Therapeutics for Leiomyomatosis and Renal Cell Cancer

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Drugs for Leiomyomatosis and Renal Cell Cancer (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
MetforminapprovedPhase 1, Phase 21573657-24-9, 1115-70-414219, 4091
Synonyms:
1,1-Dimethyl biguanide
1,1-Dimethylbiguanide
3-(diaminomethylidene)-1,1-dimethylguanidine
657-24-9
AC1L1HE4
AKOS000121065
Apo-Metformin
BIDD:GT0697
BPBio1_000009
BRD-K79602928-003-04-1
BSPBio_000007
BSPBio_002314
C07151
C4H11N5
CAS-1115-70-4
CCRIS 9321
CHEBI:6801
CHEMBL1431
CID4091
D04966
DB00331
DMBG
DMGG
Diabefagos
Diabetosan
Diabex
Diaformin
Dianben
Dimethylbiguanid
Dimethylbiguanide
Dimethylbiguanidine
Dimethyldiguanide
Dimethylguanylguanidine
EINECS 211-517-8
Fluamine
Flumamine
Fortamet
Gen-Metformin
Glifage
Gliguanid
Glucophage
Glucophage XR
Glumetza
Glycon
HMS2089D19
HSCI1_000295
Haurymelin
Haurymellin
Islotin
KBio2_002310
KBio2_004878
KBio2_007446
KBio3_002790
KBioGR_002310
 
KBioSS_002312
LA-6023
LS-43899
Meguan
Melbin
Metformin
Metformin (USAN/INN)
Metformin HCL
Metformin Hydrochloride
Metformin [USAN:INN:BAN]
Metformina
Metformina [DCIT]
Metformina [Spanish]
Metformine
Metformine [INN-French]
Metformine pamoate
Metforminum
Metforminum [INN-Latin]
Metiguanide
MolPort-002-929-560
MolPort-004-288-389
MolPort-005-767-418
Mylan-Metformin
N,N-Dimethylbiguanide
N,N-Dimethyldiguanide
N,N-Dimethylimidodicarbonimidic diamide
N,N-dimethylimidodicarbonimidic diamide
N1,N1-Dimethylbiguanide
NCGC00016564-01
NCGC00016564-02
NCGC00016564-03
NNDG
Novo-Metformin
Nu-Metformin
Obimet
PMS-Metformin
Prestwick0_000004
Prestwick1_000004
Prestwick2_000004
Prestwick3_000004
Ran-Metformin
Ratio-Metformin
Riomet
S2483_Selleck
SPBio_001928
STK011633
Sandoz Metformin
Siofor
T5895664
Teva-Metformin
UNII-9100L32L2N
ZINC12859773
cMAP_000016
metformin
metformin hydrochloride
2
Erlotinibapproved, investigationalPhase 2759183321-74-6176870, 176871
Synonyms:
183321-74-6
4-[(3-Ethynylphenyl)amino]-6,7-bis(2-methoxyethoxy)quinazoline
774
AB1004620
AC-399
AC1L42EI
AKOS000282911
AQ4
BCB03_000783
C400278
CHEBI:114785
CHEMBL553
CID176870
CP 358,774
CP-258
CP-358,774
CP-358774
DB00530
EN002711
Erlotinib
Erlotinib Base
Erlotinib Hydrochloride
Erlotinib(Tarceva)
Erlotinib, OS-774
 
Erlotinin
FT-0083688
HMS2089F05
I01-1241
K00241
Kinome_3317
LS-184395
MolPort-003-847-084
N-(3-Ethynylphenyl)-6,7-bis(2-methoxyethoxy)-4-quinazolinamine
N-(3-Ethynylphenyl)-6,7-bis(2-methoxyethoxy)quinazolin-4-amine
NCGC00164574-01
NSC 718781
OSI 744
OSI-774
R 1415
SR-05000001460
SR-05000001460-2
STK623143
Tarceva
UNII-J4T82NDH7E
ZINC01546066
[6,7-BIS(2-METHOXY-ETHOXY)QUINAZOLINE-4-YL]-(3-ETHYNYLPHENYL)AMINE
[6,7-Bis-(2-methoxy-ethoxy)-quinazolin-4-yl]-(3-ethynyl-phenyl)-amine
erlotinib
n-(3-ethynylphenyl)[6,7-bis(2-methoxyethoxy)quinazolin-4-yl]amine
nchembio866-comp3
3
Bevacizumabapproved, investigationalPhase 21820216974-75-3
Synonyms:
216974-75-3
Avastin
Avastin (TN)
Bevacizumab
Bevacizumab (genetical recombination)
 
Bevacizumab (genetical recombination) (JAN)
D06409
R-435
anti-VEGF monoclonal antibody
antiVEGF
bevacizumab
4Botulinum Toxins, Type APhase 2561
5Botulinum ToxinsPhase 2590

Interventional clinical trials:

idNameStatusNCT IDPhase
1Randomized Pilot Study for the Treatment of Cutaneous Leiomyomas With Botulinum ToxinCompletedNCT00971620Phase 2
2A Phase II Study of Bevacizumab and Erlotinib in Subjects With Advanced Hereditary Leiomyomatosis and Renal Cell Cancer (HLRCC) or Sporadic Papillary Renal Cell CancerRecruitingNCT01130519Phase 2
3Vandetanib in Combination With Metformin in People With HLRCC or SDH-Associated Kidney Cancer or Sporadic Papillary Renal Cell CarcinomaRecruitingNCT02495103Phase 1, Phase 2
4Establishment of Fibroid Tissue BankCompletedNCT00710346
5Hereditary Leiomyomatosis Renal Cell Cancer - Study of the Genetic Cause and the Predisposition to Renal CancerRecruitingNCT00050752

Search NIH Clinical Center for Leiomyomatosis and Renal Cell Cancer

Genetic Tests for Leiomyomatosis and Renal Cell Cancer

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Genetic tests related to Leiomyomatosis and Renal Cell Cancer:

id Genetic test Affiliating Genes
1 Hereditary Leiomyomatosis and Renal Cell Cancer22 24 FH
2 Leiomyomatosis Familial24

Anatomical Context for Leiomyomatosis and Renal Cell Cancer

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MalaCards organs/tissues related to Leiomyomatosis and Renal Cell Cancer:

33
Uterus, Skin, Kidney, Smooth muscle, Cervix

Animal Models for Leiomyomatosis and Renal Cell Cancer or affiliated genes

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Publications for Leiomyomatosis and Renal Cell Cancer

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Articles related to Leiomyomatosis and Renal Cell Cancer:

(show all 37)
idTitleAuthorsYear
1
Sustained NRF2 activation in hereditary leiomyomatosis and renal cell cancer (HLRCC) and in hereditary tyrosinemia typeA 1 (HT1). (26551707)
2015
2
Novel fumarate hydratase mutation in a family with atypical uterine leiomyomas and hereditary leiomyomatosis and renal cell cancer. (26493120)
2015
3
Hereditary leiomyomatosis and renal cell cancer syndrome. (26323704)
2015
4
Abnormal Cystic Tumor in a Patient with Hereditary Leiomyomatosis and Renal Cell Cancer Syndrome: Evidence of a Precursor Lesion? (26380143)
2015
5
Case 221: Hereditary Leiomyomatosis and Renal Cell Cancer Syndrome. (26302393)
2015
6
Hereditary leiomyomatosis and renal cell cancer (HLRCC): renal cancer risk, surveillance and treatment. (25012257)
2014
7
Myopathy in hereditary leiomyomatosis and renal cell cancer in an extended family. (25354562)
2014
8
Fumarate hydratase immunohistochemical staining may help to identify patients with multiple cutaneous and uterine leiomyomatosis (MCUL) and hereditary leiomyomatosis and renal cell cancer (HLRCC) syndrome. (25292446)
2014
9
Adrenal nodular hyperplasia in hereditary leiomyomatosis and renal cell cancer. (22982371)
2013
10
Bilateral ovarian steroid cell tumours and massive macronodular adrenocortical disease in a patient with hereditary leiomyomatosis and renal cell cancer syndrome. (22565324)
2012
11
Hereditary leiomyomatosis and renal cell cancer presenting as metastatic kidney cancer at 18 years of age: implications for surveillance. (22086304)
2012
12
Familial renal cancer as an indicator of hereditary leiomyomatosis and renal cell cancer syndrome. (22127509)
2012
13
Protein Profiling of Blood Samples from Patients with Hereditary Leiomyomatosis and Renal Cell Cancer by Surface-Enhanced Laser Desorption/Ionization Time-of-Flight Mass Spectrometry. (23203078)
2012
14
Novel FH mutations in families with hereditary leiomyomatosis and renal cell cancer (HLRCC) and patients with isolated type 2 papillary renal cell carcinoma. (21398687)
2011
15
Hereditary leiomyomatosis and renal cell cancer in families referred for fumarate hydratase germline mutation analysis. (20618355)
2011
16
Hereditary leiomyomatosis and renal cell cancer: update on clinical and molecular characteristics. (21404119)
2011
17
A case report of hereditary leiomyomatosis and renal cell cancer. (20510956)
2010
18
Wilms tumour as a possible early manifestation of hereditary leiomyomatosis and renal cell cancer? (19183174)
2009
19
Array comparative genomic hybridization identifies a distinct DNA copy number profile in renal cell cancer associated with hereditary leiomyomatosis and renal cell cancer. (19373782)
2009
20
LDH-A inhibition, a therapeutic strategy for treatment of hereditary leiomyomatosis and renal cell cancer. (19276158)
2009
21
Evidence for a founder effect of the germline fumarate hydratase gene mutation R58P causing hereditary leiomyomatosis and renal cell cancer (HLRCC). (17908262)
2008
22
Mutation screening of fumarate hydratase by multiplex ligation-dependent probe amplification: detection of exonic deletion in a patient with leiomyomatosis and renal cell cancer. (18503824)
2008
23
Association of germline mutations in the fumarate hydratase gene and uterine fibroids in women with hereditary leiomyomatosis and renal cell cancer. (19075141)
2008
24
Mechanisms of disease: hereditary leiomyomatosis and renal cell cancer--a distinct form of hereditary kidney cancer. (17287871)
2007
25
Compensatory alterations in energy homeostasis characterized in uterine tumors from hereditary leiomyomatosis and renal cell cancer. (17383644)
2007
26
Hereditary leiomyomatosis and renal cell cancer: a syndrome associated with an aggressive form of inherited renal cancer. (17509289)
2007
27
Hereditary leiomyomatosis and renal cell cancer: an unusual and aggressive form of hereditary renal carcinoma. (17392716)
2007
28
The syndrome of hereditary leiomyomatosis and renal cell cancer (HLRCC): The clinical features of an individual with a fumarate hydratase gene mutation. (17034471)
2006
29
Fumarate hydratase enzyme activity in lymphoblastoid cells and fibroblasts of individuals in families with hereditary leiomyomatosis and renal cell cancer. (16597677)
2006
30
Novel mutations in FH and expansion of the spectrum of phenotypes expressed in families with hereditary leiomyomatosis and renal cell cancer. (15937070)
2006
31
Cutaneous leiomyomas: a clinical marker of risk for hereditary leiomyomatosis and renal cell cancer. (16948378)
2006
32
Missense mutations in fumarate hydratase in multiple cutaneous and uterine leiomyomatosis and renal cell cancer. (16237213)
2005
33
Evidence of increased microvessel density and activation of the hypoxia pathway in tumours from the hereditary leiomyomatosis and renal cell cancer syndrome. (15586379)
2005
34
Hereditary leiomyomatosis and renal cell cancer (HLRCC). (15579034)
2004
35
Mutations in the fumarate hydratase gene cause hereditary leiomyomatosis and renal cell cancer in families in North America. (12772087)
2003
36
Few FH mutations in sporadic counterparts of tumor types observed in hereditary leiomyomatosis and renal cell cancer families. (12183404)
2002
37
Hereditary Leiomyomatosis and Renal Cell Cancer (20301430)
1993

Variations for Leiomyomatosis and Renal Cell Cancer

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UniProtKB/Swiss-Prot genetic disease variations for Leiomyomatosis and Renal Cell Cancer:

67
id Symbol AA change Variation ID SNP ID
1FHp.Lys230ArgVAR_002445
2FHp.Asn107ThrVAR_013497
3FHp.Ala117ProVAR_013498
4FHp.His180ArgVAR_013499
5FHp.Gln185ArgVAR_013500
6FHp.Arg233HisVAR_013501rs28933069
7FHp.Gly282ValVAR_013502
8FHp.Met328ArgVAR_013503

Clinvar genetic disease variations for Leiomyomatosis and Renal Cell Cancer:

5 (show all 13)
id Gene Variation Type Significance SNP ID Assembly Location
1FHNM_000143.3(FH): c.697C> T (p.Arg233Cys)single nucleotide variantPathogenicrs587781682GRCh37Chr 1, 241671944: 241671944
2FHNM_000143.3(FH): c.301C> T (p.Arg101Ter)single nucleotide variantPathogenicrs121913120GRCh37Chr 1, 241676980: 241676980
3FHNM_000143.3(FH): c.671_672delAG (p.Glu224Valfs)deletionPathogenicrs780001199GRCh37Chr 1, 241671969: 241671970
4FHNM_000143.3(FH): c.1027C> T (p.Arg343Ter)single nucleotide variantPathogenicrs121913122GRCh37Chr 1, 241667423: 241667423
5FHNM_000143.3(FH): c.698G> A (p.Arg233His)single nucleotide variantPathogenicrs121913123GRCh37Chr 1, 241671943: 241671943
6FHNM_000143.3(FH): c.698G> T (p.Arg233Leu)single nucleotide variantPathogenicrs121913123GRCh37Chr 1, 241671943: 241671943
7FHNM_000143.3(FH): c.302G> C (p.Arg101Pro)single nucleotide variantPathogenicrs75086406GRCh37Chr 1, 241676979: 241676979
8FHNM_000143.3(FH): c.1067T> A (p.Leu356Ter)single nucleotide variantLikely pathogenic, Pathogenicrs727503927GRCh38Chr 1, 241504083: 241504083
9FHNM_000143.3(FH): c.556-1G> Csingle nucleotide variantPathogenicrs794727698GRCh37Chr 1, 241672086: 241672086
10FHNM_000143.3(FH): c.912_918delTTTTGTC (p.Phe305Leufs)deletionPathogenicrs794727836GRCh37Chr 1, 241667532: 241667538
11FHNM_000143.3(FH): c.905-1G> Asingle nucleotide variantPathogenicrs797044973GRCh37Chr 1, 241667546: 241667546
12FHNM_000143.3(FH): c.1210G> T (p.Glu404Ter)single nucleotide variantPathogenicrs797044974GRCh38Chr 1, 241502469: 241502469
13FHNM_000143.3(FH): c.320A> C (p.Asn107Thr)single nucleotide variantPathogenicrs121913121GRCh37Chr 1, 241676961: 241676961

Cosmic variations for Leiomyomatosis and Renal Cell Cancer:

7 (show all 45)
id Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Conf
1690METkidney,NS,carcinoma,papillary renal cell carcinoma3
2704METkidney,NS,carcinoma,papillary renal cell carcinoma3
3698METkidney,NS,carcinoma,papillary renal cell carcinoma3
4689METkidney,NS,carcinoma,papillary renal cell carcinoma3
5484661METkidney,NS,carcinoma,papillary renal cell carcinoma3
6697METkidney,NS,carcinoma,papillary renal cell carcinoma3
7696METkidney,NS,carcinoma,papillary renal cell carcinoma3
8688METkidney,NS,carcinoma,papillary renal cell carcinoma3
9691METkidney,NS,carcinoma,papillary renal cell carcinoma3
1017807VHLkidney,NS,carcinoma,papillary renal cell carcinoma3
1114311VHLkidney,NS,carcinoma,papillary renal cell carcinoma3
1218346VHLkidney,NS,carcinoma,papillary renal cell carcinoma3
1317808VHLkidney,NS,carcinoma,papillary renal cell carcinoma3
1430286VHLkidney,NS,carcinoma,papillary renal cell carcinoma3
1525673VHLkidney,NS,carcinoma,papillary renal cell carcinoma3
1610709TP53kidney,NS,carcinoma,papillary renal cell carcinoma3
1743697TP53kidney,NS,carcinoma,papillary renal cell carcinoma3
1843850TP53kidney,NS,carcinoma,papillary renal cell carcinoma3
19718FGFR3kidney,NS,carcinoma,papillary renal cell carcinoma3
203993568FGFR3kidney,NS,carcinoma,papillary renal cell carcinoma3
21760PIK3CAkidney,NS,carcinoma,papillary renal cell carcinoma3
22763PIK3CAkidney,NS,carcinoma,papillary renal cell carcinoma3
23462BRAFkidney,NS,carcinoma,papillary renal cell carcinoma3
241131BRAFkidney,NS,carcinoma,papillary renal cell carcinoma3
25375284ANKHD1kidney,NS,carcinoma,papillary renal cell carcinoma3
26110414SMARCB1kidney,NS,carcinoma,papillary renal cell carcinoma3
27375283ANKHD1-EIF4EBP3kidney,NS,carcinoma,papillary renal cell carcinoma3
281268384TP63kidney,NS,carcinoma,papillary renal cell carcinoma3
291181978ADARB1kidney,NS,carcinoma,papillary renal cell carcinoma3
30487039SCAIkidney,NS,carcinoma,papillary renal cell carcinoma3
31964299MAP2K5kidney,NS,carcinoma,papillary renal cell carcinoma3
32274461CDC73kidney,NS,carcinoma,papillary renal cell carcinoma3
33742462GFRALkidney,NS,carcinoma,papillary renal cell carcinoma3
34188258HIVEP3kidney,NS,carcinoma,papillary renal cell carcinoma3
35485065RHEBkidney,NS,carcinoma,papillary renal cell carcinoma3
3621945EGFRkidney,NS,carcinoma,papillary renal cell carcinoma3
371583146DNMT3Akidney,NS,carcinoma,papillary renal cell carcinoma3
38485575PMS2P11kidney,NS,carcinoma,papillary renal cell carcinoma3
395260PTENkidney,NS,carcinoma,papillary renal cell carcinoma3
40521KRASkidney,NS,carcinoma,papillary renal cell carcinoma3
41302052DHX9kidney,NS,carcinoma,papillary renal cell carcinoma3
4214060ERBB2kidney,NS,carcinoma,papillary renal cell carcinoma3
43163384PDGFRAkidney,NS,carcinoma,papillary renal cell carcinoma3
441360764SOX5kidney,NS,carcinoma,papillary renal cell carcinoma3
451222993RAD23Bkidney,NS,carcinoma,papillary renal cell carcinoma3

Expression for genes affiliated with Leiomyomatosis and Renal Cell Cancer

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Search GEO for disease gene expression data for Leiomyomatosis and Renal Cell Cancer.

Pathways for genes affiliated with Leiomyomatosis and Renal Cell Cancer

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GO Terms for genes affiliated with Leiomyomatosis and Renal Cell Cancer

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Cellular components related to Leiomyomatosis and Renal Cell Cancer according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1mitochondrionGO:00057398.4BNIP3, FH, LDHA, SDHB

Biological processes related to Leiomyomatosis and Renal Cell Cancer according to GeneCards Suite gene sharing:

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1tricarboxylic acid cycleGO:000609910.0FH, SDHB
2lactate metabolic processGO:00060899.5HIF1A, LDHA
3positive regulation of autophagyGO:00105089.5BNIP3, HIF1A
4regulation of aerobic respirationGO:19037159.5BNIP3, HIF1A
5negative regulation of reactive oxygen species metabolic processGO:20003789.1BNIP3, HIF1A
6cellular response to hypoxiaGO:00714568.8BNIP3, HIF1A
7cellular metabolic processGO:00442378.8FH, LDHA, SDHB
8response to hypoxiaGO:00016668.5BNIP3, HIF1A, LDHA

Sources for Leiomyomatosis and Renal Cell Cancer

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet