DBM
MCID: LKM056
MIFTS: 66

Leukemia, Chronic Lymphocytic 2 (DBM)

Categories: Blood diseases, Bone diseases, Cancer diseases, Immune diseases, Rare diseases

Aliases & Classifications for Leukemia, Chronic Lymphocytic 2

MalaCards integrated aliases for Leukemia, Chronic Lymphocytic 2:

Name: Leukemia, Chronic Lymphocytic 2 57 29
Leukemia, Chronic Lymphocytic, Susceptibility to, 2 57 13
B-Cell Malignancy, Low-Grade 57 73
Leukemia, Chronic Lymphocytic, B-Cell; Bcll 57
Leukemia, Chronic Lymphocytic, B-Cell 57
Disrupted in B-Cell Malignancy; Dbm 57
Disrupted in B-Cell Malignancy 57
Chronic Lymphocytic Leukemia 73
Clls2 57
Bcll 57
Dbm 57

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant (13q14)


HPO:

32
leukemia, chronic lymphocytic 2:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 109543
MedGen 42 C1868683

Summaries for Leukemia, Chronic Lymphocytic 2

MalaCards based summary : Leukemia, Chronic Lymphocytic 2, also known as leukemia, chronic lymphocytic, susceptibility to, 2, is related to leukemia, chronic lymphocytic and lymphocytic leukemia, and has symptoms including fatigue, angina pectoris and edema. An important gene associated with Leukemia, Chronic Lymphocytic 2 is TP53 (Tumor Protein P53), and among its related pathways/superpathways are Regulation of lipid metabolism Insulin signaling-generic cascades and Endometrial cancer. The drugs Arzerra and Campath have been mentioned in the context of this disorder. Affiliated tissues include b cells, t cells and bone, and related phenotypes are chronic lymphatic leukemia and neoplasm

Wikipedia : 76 Chronic lymphocytic leukemia (CLL) is a type of cancer in which the bone marrow makes too many... more...

Description from OMIM: 109543

Related Diseases for Leukemia, Chronic Lymphocytic 2

Diseases in the Lymphocytic Leukemia family:

Leukemia, Chronic Lymphocytic 2 Leukemia, Chronic Lymphocytic
Leukemia, Chronic Lymphocytic 1 Leukemia, Chronic Lymphocytic 3
Leukemia, Chronic Lymphocytic 4 Leukemia, Chronic Lymphocytic 5
Acute Lymphocytic Leukemia Adult Acute Lymphocytic Leukemia

Diseases related to Leukemia, Chronic Lymphocytic 2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 108)
# Related Disease Score Top Affiliating Genes
1 leukemia, chronic lymphocytic 31.8 BRAF HRAS KRAS NRAS PTPN11 TP53
2 lymphocytic leukemia 30.1 TP53 PTPN11 DLEU2 DLEU1
3 prostate cancer 29.6 TP53 MIR34A MIR29A MIR16-1 MIR15A MIR145
4 nevus of ota 10.3 TP53 BRAF
5 melanomatosis 10.3 NRAS HRAS
6 rare adenocarcinoma of the breast 10.3 TP53 KRAS
7 sigmoid neoplasm 10.3 KRAS HRAS
8 giant congenital nevus 10.3 NRAS HRAS
9 urachal adenocarcinoma 10.3 KRAS BRAF
10 apocrine adenoma 10.3 KRAS HRAS
11 hyperplastic polyposis syndrome 10.3 BRAF KRAS TP53
12 mature teratoma 10.3 TP53 KRAS BRAF
13 spitz nevus 10.3 TP53 HRAS BRAF
14 nasal cavity adenocarcinoma 10.3 TP53 KRAS HRAS
15 biliary papillomatosis 10.3 TP53 KRAS HRAS
16 paronychia 10.3 KRAS HRAS
17 benign struma ovarii 10.3 NRAS HRAS
18 syringocystadenoma papilliferum 10.3 KRAS BRAF
19 biliary tract neoplasm 10.3 TP53 KRAS HRAS
20 periampullary adenoma 10.3 KRAS HRAS
21 ampulla of vater cancer 10.3 TP53 KRAS HRAS
22 meningeal melanomatosis 10.3 TP53 NRAS HRAS
23 bile duct adenocarcinoma 10.3 TP53 KRAS HRAS
24 gastrointestinal system benign neoplasm 10.3 TP53 KRAS HRAS
25 intestinal benign neoplasm 10.3 TP53 KRAS HRAS
26 ovary adenocarcinoma 10.3 TP53 KRAS HRAS
27 lung benign neoplasm 10.3 TP53 KRAS HRAS
28 schimmelpenning-feuerstein-mims syndrome 10.3 NRAS KRAS HRAS
29 ovary epithelial cancer 10.3 TP53 KRAS HRAS
30 leopard syndrome 10.3 PTPN11 HRAS BRAF
31 malignant ovarian surface epithelial-stromal neoplasm 10.3 TP53 KRAS HRAS
32 mutyh-associated polyposis 10.2 TP53 KRAS
33 pancreas disease 10.2 TP53 KRAS HRAS
34 esophagus adenocarcinoma 10.2 TP53 MIR145 MIR143
35 costello syndrome 10.2 PTPN11 KRAS HRAS
36 acneiform dermatitis 10.2 NRAS KRAS HRAS
37 myelodysplastic myeloproliferative cancer 10.2 PTPN11 NRAS HRAS
38 skin melanoma 10.2 TP53 NRAS BRAF
39 cell type benign neoplasm 10.2 TP53 KRAS HRAS
40 core binding factor acute myeloid leukemia 10.2 NRAS KRAS HRAS
41 colorectal adenoma 10.2 TP53 KRAS HRAS
42 carcinosarcoma 10.2 TP53 KRAS HRAS
43 colonic disease 10.2 TP53 KRAS HRAS
44 rectal neoplasm 10.2 TP53 KRAS HRAS
45 respiratory system cancer 10.2 TP53 KRAS HRAS
46 ovarian melanoma 10.2 NRAS HRAS
47 nevus, epidermal 10.2 NRAS KRAS HRAS
48 intestinal disease 10.2 TP53 KRAS HRAS
49 noonan syndrome 3 10.2 PTPN11 KRAS HRAS
50 gastrointestinal system cancer 10.2 TP53 KRAS HRAS

Graphical network of the top 20 diseases related to Leukemia, Chronic Lymphocytic 2:



Diseases related to Leukemia, Chronic Lymphocytic 2

Symptoms & Phenotypes for Leukemia, Chronic Lymphocytic 2

Symptoms via clinical synopsis from OMIM:

57
Oncology:
b-cell chronic lymphocytic leukemia (cll)


Clinical features from OMIM:

109543

Human phenotypes related to Leukemia, Chronic Lymphocytic 2:

32
# Description HPO Frequency HPO Source Accession
1 chronic lymphatic leukemia 32 HP:0005550

UMLS symptoms related to Leukemia, Chronic Lymphocytic 2:


fatigue, angina pectoris, edema, chest pain

MGI Mouse Phenotypes related to Leukemia, Chronic Lymphocytic 2:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 neoplasm MP:0002006 9.43 BRAF HRAS KRAS NRAS PTPN11 TP53
2 pigmentation MP:0001186 9.02 BRAF KRAS NRAS PTPN11 TP53

Drugs & Therapeutics for Leukemia, Chronic Lymphocytic 2

FDA approved drugs:

(show all 8)
# Drug Name Active Ingredient(s) 18 Company Approval Date
1
Arzerra 18 49 OFATUMUMAB GlaxoSmithKline October 2009
2
Campath 18 49 ALEMTUZUMAB Berlex Laboratories May 2001
3
Clolar 18 49 CLOFARABINE Genzyme December, 2004
4
Gazyva 18 49 OBINUTUZUMAB Genentech October of 2013
5
Imbruvica 18 49 IBRUTINIB Pharmacyclics November of 2013/February 2014
6
Revlimid 18 49 LENALIDOMIDE Celgene June 2013
7
Treanda 18 49 BENDAMUSTINE HYDROCHLORIDE Cephalon October 2008
8
Zydelig 18 49 IDELALISIB Gilead July 2014

Search Clinical Trials , NIH Clinical Center for Leukemia, Chronic Lymphocytic 2

Inferred drug relations via UMLS 73 / NDF-RT 51 :


Genetic Tests for Leukemia, Chronic Lymphocytic 2

Genetic tests related to Leukemia, Chronic Lymphocytic 2:

# Genetic test Affiliating Genes
1 Leukemia, Chronic Lymphocytic 2 29

Anatomical Context for Leukemia, Chronic Lymphocytic 2

MalaCards organs/tissues related to Leukemia, Chronic Lymphocytic 2:

41
B Cells, T Cells, Bone, Bone Marrow, Myeloid, Lymph Node, Nk Cells

Publications for Leukemia, Chronic Lymphocytic 2

Articles related to Leukemia, Chronic Lymphocytic 2:

(show top 50) (show all 4342)
# Title Authors Year
1
Ex-Vivo Signal Transduction Studies in Chronic Lymphocytic Leukemia. ( 30350193 )
2019
2
Ex Vivo Pharmacological Profiling in Chronic Lymphocytic Leukemia Cells. ( 30350194 )
2019
3
Culture and Harvest of CpG-Stimulated Peripheral Blood or Bone Marrow in Chronic Lymphocytic Leukemia. ( 30350195 )
2019
4
Analysis of Common Abnormalities Seen in Chronic Lymphocytic Leukemia Using Fluorescence In Situ Hybridization. ( 30350196 )
2019
5
Immunoglobulin Gene Analysis in Chronic Lymphocytic Leukemia. ( 30350197 )
2019
6
Methods for Investigating VLA-4 (CD49d/CD29) Expression and Activation in Chronic Lymphocytic Leukemia and Its Clinical Applications. ( 30350200 )
2019
7
Extracellular Flux Assays to Determine Oxidative Phosphorylation and Glycolysis in Chronic Lymphocytic Leukemia Cells. ( 30350202 )
2019
8
Measurement of Leukemic B-Cell Growth Kinetics in Patients with Chronic Lymphocytic Leukemia. ( 30350203 )
2019
9
Minimal Residual Disease Quantification in Chronic Lymphocytic Leukemia: Clinical Significance and Flow Cytometric Methods. ( 30350209 )
2019
10
Measurement of miRNAs in Chronic Lymphocytic Leukemia Patient Samples by Quantitative Reverse Transcription PCR. ( 30350212 )
2019
11
Genome Sequencing and Analysis Methods in Chronic Lymphocytic Leukemia. ( 30350214 )
2019
12
High-Throughput Sequencing of the T-Cell Receptor Beta Chain Gene Repertoire in Chronic Lymphocytic Leukemia. ( 30350216 )
2019
13
An Evidence-based Review of Anti-CD20 Antibody-containing Regimens for the Treatment of Patients With Relapsed or Refractory Chronic Lymphocytic Leukemia, Diffuse Large B-cell Lymphoma, or Follicular Lymphoma. ( 29934061 )
2018
14
Cutaneous Mucormycosis Following a Bullous Pemphigoid Flare in a Chronic Lymphocytic Leukemia Patient on Ibrutinib. ( 29760835 )
2018
15
Highly similar genomic landscapes in monoclonal B-cell lymphocytosis and ultra-stable chronic lymphocytic leukemia with low frequency of driver mutations. ( 29449433 )
2018
16
A Chronic Lymphocytic Leukemia Patient with Progressive Multifocal Leukoencephalopathy Caused by John Cunningham Virus. ( 29950535 )
2018
17
Simultaneous finding of chronic lymphocytic leukemia and residual hairy cell leukemia using a lymphocyte-binding anti-CD antibody microarray. ( 29636954 )
2018
18
Cerebral aspergillosis: An emerging opportunistic infection in patients receiving ibrutinib for chronic lymphocytic leukemia? ( 29402474 )
2018
19
Composite Lymphoma as Co-occurrence of Advanced Chronic Lymphocytic Leukemia/Small Lymphocytic Lymphoma Carrying Trisomy 12 and t(14;18) and Peripheral T-cell Lymphoma. ( 29415977 )
2018
20
Trisomy 12 chronic lymphocytic leukemia expresses a unique set of activated and targetable pathways. ( 29976738 )
2018
21
Cytomegalovirus reactivation can be a cause of DAT-negative hemolytic anemia in patients with chronic lymphocytic leukemia. ( 29911929 )
2018
22
Distribution of Curcumin and THC in Peripheral Blood Mononuclear Cells Isolated from Healthy Individuals and Patients with Chronic Lymphocytic Leukemia. ( 29277764 )
2018
23
Chronic lymphocytic leukemia cells acquire regulatory B-cell properties in response to TLR9 and CD40 activation. ( 29450641 )
2018
24
Necrobiotic xanthogranuloma associated with chronic lymphocytic leukemia. ( 29485184 )
2018
25
Current perspectives on the role of chemotherapy in chronic lymphocytic leukemia. ( 28565930 )
2018
26
Paraneoplastic Pemphigus Associated with B-cell Chronic Lymphocytic Leukemia Treated with Ibrutinib and Rituximab. ( 29526963 )
2018
27
Idelalisib impairs T-cell-mediated immunity in chronic lymphocytic leukemia. ( 29976737 )
2018
28
Gamma heavy chain disease evolving during the progression of chronic lymphocytic leukemia. ( 29315075 )
2018
29
PD-1 Expression in Chronic Lymphocytic Leukemia/Small Lymphocytic Lymphoma (CLL/SLL) and Large B-cell Richter Transformation (DLBCL-RT): A Characteristic Feature of DLBCL-RT and Potential Surrogate Marker for Clonal Relatedness. ( 29762141 )
2018
30
Safety of obinutuzumab alone or combined with chemotherapy for previously untreated or relapsed/refractory chronic lymphocytic leukemia in the Phase 3b GREEN study. ( 29976743 )
2018
31
Transformation of Chronic Lymphocytic Leukemia (CLL) into B-cell Acute Lymphoblastic Leukemia (ALL). ( 29437555 )
2018
32
Quercetin Therapy for Selected Patients with PIM1 Kinase-Positive Chronic Lymphocytic Leukemia/Small Lymphocytic Lymphoma: A Pilot Study. ( 29444501 )
2018
33
Autologous T cells expressing the oncogenic transcription factor KLF6-SV1 prevent apoptosis of chronic lymphocytic leukemia cells. ( 29432497 )
2018
34
A catalytically inactive gelatinase B/MMP-9 mutant impairs homing of chronic lymphocytic leukemia cells by altering migration regulatory pathways. ( 29080742 )
2018
35
Prevalence of cutaneous viral infections in incident cutaneous squamous cell carcinoma detected among chronic lymphocytic leukemia and hematopoietic stem cell transplant patients. ( 28679298 )
2018
36
Refractory Abdominal Pain in a Patient with Chronic Lymphocytic Leukemia: Be Wary of Acquired Angioedema due to C1 Esterase Inhibitor Deficiency. ( 29545957 )
2018
37
Challenges in assessing the real incidence of chronic lymphocytic leukemia: 16A years of epidemiological data from the province of Girona, Spain. ( 29383469 )
2018
38
Targeting the IL-17/IL-6 axis can alter growth of Chronic Lymphocytic Leukemia in vivo/in vitro. ( 29353760 )
2018
39
Disseminated cerebral toxoplasmosis in a patient with chronic lymphocytic leukemia. ( 29428267 )
2018
40
Mixed-species RNAseq analysis of human lymphoma cells adhering to mouse stromal cells identifies a core gene set that is also differentially expressed in the lymph node microenvironment of mantle cell lymphoma and chronic lymphocytic leukemia patients. ( 29449436 )
2018
41
Paraneoplastic pemphigus with anti-desmocollin 3 autoantibodies and chronic lymphocytic leukemia. ( 29599682 )
2018
42
Rare Coexistence of Acute Monoblastic Leukemia with Chronic Lymphocytic Leukemia. ( 30524762 )
2018
43
Acute promyelocytic leukemia and chronic lymphocytic leukemia diagnosed concurrently. ( 29052253 )
2018
44
An Unusual Case Report: Occurrence of Renal Cell Carcinoma, Basal Cell Carcinoma and Chronic Lymphocytic Leukemia in a Case of Papillary Thyroid Carcinoma Treated with Radioactive Iodine. ( 30510343 )
2018
45
Cortactin expression in non-Hodgkin B-cell lymphomas: a new marker for the differential diagnosis between chronic lymphocytic leukemia and mantle cell lymphoma. ( 30458196 )
2018
46
Insect Bite-Like Reaction with Bullous Lesions Mimicking Bullous Pemphigoid in a Patient with Chronic Lymphocytic Leukemia. ( 30065590 )
2018
47
Anterior chamber fibrinoid syndrome after cataract extraction in a patient on ibrutinib for B-cell chronic lymphocytic leukemia: a case report and review of the literature. ( 30442199 )
2018
48
Pericardial Involvement with Chronic Lymphocytic Leukemia/Small Lymphocytic Lymphoma: A Rare Case of Constrictive Pericarditis. ( 30140781 )
2018
49
Blood and Guts: Diarrhea from Colonic Involvement in Chronic Lymphocytic Leukemia/Small Lymphocytic Lymphoma. ( 30155841 )
2018
50
Coexistence of chronic myeloid leukemia and diffuse large B-cell lymphoma with antecedent chronic lymphocytic leukemia: a case report and review of the literature. ( 29524963 )
2018

Variations for Leukemia, Chronic Lymphocytic 2

ClinVar genetic disease variations for Leukemia, Chronic Lymphocytic 2:

6 (show top 50) (show all 210)
# Gene Variation Type Significance SNP ID Assembly Location
1 HRAS NM_005343.3(HRAS): c.37G> C (p.Gly13Arg) single nucleotide variant Pathogenic/Likely pathogenic rs104894228 GRCh38 Chromosome 11, 534286: 534286
2 MYD88 NM_002468.4(MYD88): c.794T> C (p.Leu265Pro) single nucleotide variant Uncertain significance rs387907272 GRCh38 Chromosome 3, 38141150: 38141150
3 NRAS NM_002524.4(NRAS): c.182A> C (p.Gln61Pro) single nucleotide variant Pathogenic rs11554290 GRCh37 Chromosome 1, 115256529: 115256529
4 FBXW7 NM_001013415.1(FBXW7): c.1040G> T (p.Arg347Leu) single nucleotide variant Likely pathogenic rs1057519895 GRCh38 Chromosome 4, 152328232: 152328232
5 FBXW7 NM_001013415.1(FBXW7): c.1039C> G (p.Arg347Gly) single nucleotide variant Likely pathogenic rs867384286 GRCh37 Chromosome 4, 153249385: 153249385
6 XPO1 NM_003400.3(XPO1): c.1712A> T (p.Glu571Val) single nucleotide variant Likely pathogenic rs1057520010 GRCh38 Chromosome 2, 61492336: 61492336
7 XPO1 NM_003400.3(XPO1): c.1712A> T (p.Glu571Val) single nucleotide variant Likely pathogenic rs1057520010 GRCh37 Chromosome 2, 61719471: 61719471
8 XPO1 NM_003400.3(XPO1): c.1711G> A (p.Glu571Lys) single nucleotide variant Likely pathogenic rs1057520009 GRCh38 Chromosome 2, 61492337: 61492337
9 XPO1 NM_003400.3(XPO1): c.1711G> A (p.Glu571Lys) single nucleotide variant Likely pathogenic rs1057520009 GRCh37 Chromosome 2, 61719472: 61719472
10 TP53 NM_000546.5(TP53): c.713G> T (p.Cys238Phe) single nucleotide variant Pathogenic rs730882005 GRCh37 Chromosome 17, 7577568: 7577568
11 HRAS; LRRC56 NM_005343.3(HRAS): c.181C> G (p.Gln61Glu) single nucleotide variant Likely pathogenic rs28933406 GRCh38 Chromosome 11, 533875: 533875
12 HRAS; LRRC56 NM_005343.3(HRAS): c.181C> G (p.Gln61Glu) single nucleotide variant Likely pathogenic rs28933406 GRCh37 Chromosome 11, 533875: 533875
13 HRAS; LRRC56 NM_005343.3(HRAS): c.38G> C (p.Gly13Ala) single nucleotide variant Likely pathogenic rs104894226 GRCh38 Chromosome 11, 534285: 534285
14 HRAS; LRRC56 NM_005343.3(HRAS): c.38G> C (p.Gly13Ala) single nucleotide variant Likely pathogenic rs104894226 GRCh37 Chromosome 11, 534285: 534285
15 FBXW7 NM_001013415.1(FBXW7): c.1159C> A (p.Arg387Ser) single nucleotide variant Likely pathogenic rs149680468 GRCh38 Chromosome 4, 152326137: 152326137
16 FBXW7 NM_001013415.1(FBXW7): c.1159C> A (p.Arg387Ser) single nucleotide variant Likely pathogenic rs149680468 GRCh37 Chromosome 4, 153247289: 153247289
17 FBXW7 NM_033632.3(FBXW7): c.1514G> A (p.Arg505His) single nucleotide variant Uncertain significance rs1057519896 GRCh38 Chromosome 4, 152326136: 152326136
18 FBXW7 NM_033632.3(FBXW7): c.1514G> A (p.Arg505His) single nucleotide variant Uncertain significance rs1057519896 GRCh37 Chromosome 4, 153247288: 153247288
19 FBXW7 NM_018315.4(FBXW7): c.1274G> T (p.Arg425Leu) single nucleotide variant Likely pathogenic rs1057519896 GRCh38 Chromosome 4, 152326136: 152326136
20 FBXW7 NM_018315.4(FBXW7): c.1274G> T (p.Arg425Leu) single nucleotide variant Likely pathogenic rs1057519896 GRCh37 Chromosome 4, 153247288: 153247288
21 FBXW7 NM_001013415.1(FBXW7): c.1159C> G (p.Arg387Gly) single nucleotide variant Likely pathogenic rs149680468 GRCh38 Chromosome 4, 152326137: 152326137
22 FBXW7 NM_001013415.1(FBXW7): c.1159C> G (p.Arg387Gly) single nucleotide variant Likely pathogenic rs149680468 GRCh37 Chromosome 4, 153247289: 153247289
23 FBXW7 NM_001013415.1(FBXW7): c.1039C> G (p.Arg347Gly) single nucleotide variant Likely pathogenic rs867384286 GRCh38 Chromosome 4, 152328233: 152328233
24 FBXW7 NM_001013415.1(FBXW7): c.1040G> T (p.Arg347Leu) single nucleotide variant Likely pathogenic rs1057519895 GRCh37 Chromosome 4, 153249384: 153249384
25 FBXW7 NM_018315.4(FBXW7): c.1154G> C (p.Arg385Pro) single nucleotide variant Likely pathogenic rs1057519895 GRCh38 Chromosome 4, 152328232: 152328232
26 TP53 NM_001126112.2(TP53): c.332T> G (p.Leu111Arg) single nucleotide variant Likely pathogenic rs1057519997 GRCh38 Chromosome 17, 7676037: 7676037
27 FBXW7 NM_018315.4(FBXW7): c.1154G> C (p.Arg385Pro) single nucleotide variant Likely pathogenic rs1057519895 GRCh37 Chromosome 4, 153249384: 153249384
28 FBXW7 NM_018315.4(FBXW7): c.1154G> A (p.Arg385His) single nucleotide variant Likely pathogenic rs1057519895 GRCh38 Chromosome 4, 152328232: 152328232
29 FBXW7 NM_018315.4(FBXW7): c.1154G> A (p.Arg385His) single nucleotide variant Likely pathogenic rs1057519895 GRCh37 Chromosome 4, 153249384: 153249384
30 FBXW7 NM_018315.4(FBXW7): c.1153C> T (p.Arg385Cys) single nucleotide variant Likely pathogenic rs867384286 GRCh38 Chromosome 4, 152328233: 152328233
31 FBXW7 NM_018315.4(FBXW7): c.1153C> T (p.Arg385Cys) single nucleotide variant Likely pathogenic rs867384286 GRCh37 Chromosome 4, 153249385: 153249385
32 HRAS; LRRC56 NM_005343.3(HRAS): c.182A> C (p.Gln61Pro) single nucleotide variant Likely pathogenic rs121913233 GRCh38 Chromosome 11, 533874: 533874
33 HRAS; LRRC56 NM_005343.3(HRAS): c.182A> C (p.Gln61Pro) single nucleotide variant Likely pathogenic rs121913233 GRCh37 Chromosome 11, 533874: 533874
34 NRAS NM_002524.4(NRAS): c.182A> T (p.Gln61Leu) single nucleotide variant Pathogenic/Likely pathogenic rs11554290 GRCh38 Chromosome 1, 114713908: 114713908
35 NRAS NM_002524.4(NRAS): c.182A> T (p.Gln61Leu) single nucleotide variant Pathogenic/Likely pathogenic rs11554290 GRCh37 Chromosome 1, 115256529: 115256529
36 NRAS NM_002524.4(NRAS): c.183A> T (p.Gln61His) single nucleotide variant Pathogenic rs121913255 GRCh38 Chromosome 1, 114713907: 114713907
37 NRAS NM_002524.4(NRAS): c.183A> T (p.Gln61His) single nucleotide variant Pathogenic rs121913255 GRCh37 Chromosome 1, 115256528: 115256528
38 NRAS NM_002524.4(NRAS): c.182A> C (p.Gln61Pro) single nucleotide variant Pathogenic rs11554290 GRCh38 Chromosome 1, 114713908: 114713908
39 TP53 NM_000546.5(TP53): c.523C> T (p.Arg175Cys) single nucleotide variant Uncertain significance rs138729528 GRCh37 Chromosome 17, 7578407: 7578407
40 TP53 NM_000546.5(TP53): c.523C> T (p.Arg175Cys) single nucleotide variant Uncertain significance rs138729528 GRCh38 Chromosome 17, 7675089: 7675089
41 TP53 NM_000546.5(TP53): c.743G> C (p.Arg248Pro) single nucleotide variant Likely pathogenic rs11540652 GRCh38 Chromosome 17, 7674220: 7674220
42 TP53 NM_000546.5(TP53): c.743G> C (p.Arg248Pro) single nucleotide variant Likely pathogenic rs11540652 GRCh37 Chromosome 17, 7577538: 7577538
43 TP53 NM_000546.5(TP53): c.577C> T (p.His193Tyr) single nucleotide variant Likely pathogenic rs876658468 GRCh38 Chromosome 17, 7674954: 7674954
44 TP53 NM_000546.5(TP53): c.577C> T (p.His193Tyr) single nucleotide variant Likely pathogenic rs876658468 GRCh37 Chromosome 17, 7578272: 7578272
45 TP53 NM_000546.5(TP53): c.743G> T (p.Arg248Leu) single nucleotide variant Likely pathogenic rs11540652 GRCh38 Chromosome 17, 7674220: 7674220
46 TP53 NM_000546.5(TP53): c.743G> T (p.Arg248Leu) single nucleotide variant Likely pathogenic rs11540652 GRCh37 Chromosome 17, 7577538: 7577538
47 TP53 NM_000546.5(TP53): c.797G> T (p.Gly266Val) single nucleotide variant Uncertain significance rs193920774 GRCh38 Chromosome 17, 7673823: 7673823
48 TP53 NM_000546.5(TP53): c.797G> T (p.Gly266Val) single nucleotide variant Uncertain significance rs193920774 GRCh37 Chromosome 17, 7577141: 7577141
49 TP53 NM_000546.5(TP53): c.818G> C (p.Arg273Pro) single nucleotide variant Pathogenic/Likely pathogenic rs28934576 GRCh38 Chromosome 17, 7673802: 7673802
50 TP53 NM_000546.5(TP53): c.764T> A (p.Ile255Asn) single nucleotide variant Uncertain significance rs876659675 GRCh38 Chromosome 17, 7674199: 7674199

Copy number variations for Leukemia, Chronic Lymphocytic 2 from CNVD:

7 (show top 50) (show all 1219)
# CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 14042 1 103366560 104230405 Loss Chronic lymphocytic leukemia
2 14895 1 110954839 111582296 Loss Chronic lymphocytic leukemia
3 14947 1 111421057 111642223 Loss Chronic lymphocytic leukemia
4 15456 1 115719205 117399077 Loss Chronic lymphocytic leukemia
5 17206 1 141510591 145121245 Deletion Chronic lymphocytic leukemia
6 17207 1 141510591 145121245 Loss Chronic lymphocytic leukemia
7 18527 1 146265358 148164994 Gain Chronic lymphocytic leukemia
8 19758 1 151208615 155645185 Gain Chronic lymphocytic leukemia
9 20025 1 152611898 157344161 Loss Chronic lymphocytic leukemia
10 21378 1 158336749 159355008 Loss Chronic lymphocytic leukemia
11 21384 1 158391645 159433573 Loss Chronic lymphocytic leukemia
12 21385 1 158391645 189498990 Loss Chronic lymphocytic leukemia
13 23023 1 170758115 170759115 Loss Chronic lymphocytic leukemia
14 23030 1 170822660 170823660 Gain Chronic lymphocytic leukemia
15 23626 1 172107770 172108770 Gain Chronic lymphocytic leukemia
16 24171 1 176708253 177307399 Gain Chronic lymphocytic leukemia
17 25274 1 186459864 186720923 Loss Chronic lymphocytic leukemia
18 25359 1 187890295 188217703 Loss Chronic lymphocytic leukemia
19 25435 1 189143434 189363313 Gain Chronic lymphocytic leukemia
20 25473 1 189804292 192389810 Gain Chronic lymphocytic leukemia
21 25685 1 193314169 193528753 Gain Chronic lymphocytic leukemia
22 26789 1 202768030 203457313 Loss Chronic lymphocytic leukemia
23 26818 1 203067017 205298659 Loss Chronic lymphocytic leukemia
24 26975 1 204424298 206588789 Loss Chronic lymphocytic leukemia
25 28076 1 218313329 220732423 Loss Chronic lymphocytic leukemia
26 28130 1 218942571 219164038 Loss Chronic lymphocytic leukemia
27 28133 1 218959043 244561923 Loss Chronic lymphocytic leukemia
28 28265 1 220678511 222112407 Gain Chronic lymphocytic leukemia
29 28321 1 221304071 221582122 Gain Chronic lymphocytic leukemia
30 28577 1 223594083 225234079 Loss Chronic lymphocytic leukemia
31 28643 1 224353010 225571533 Loss Chronic lymphocytic leukemia
32 28702 1 224857883 233411748 Loss Chronic lymphocytic leukemia
33 29066 1 227299711 227518155 Loss Chronic lymphocytic leukemia
34 29113 1 227696842 233631743 Loss Chronic lymphocytic leukemia
35 29265 1 229664393 229947546 Gain Chronic lymphocytic leukemia
36 29501 1 232707626 233302391 Loss Chronic lymphocytic leukemia
37 31053 1 24943712 26054939 Loss Chronic lymphocytic leukemia
38 31193 1 25985121 29490451 Deletion Chronic lymphocytic leukemia
39 31425 1 27504484 28494376 Loss Chronic lymphocytic leukemia
40 32443 1 36783544 38823237 Loss Chronic lymphocytic leukemia
41 33495 1 45606989 46307302 Gain Chronic lymphocytic leukemia
42 34016 1 51545765 53346467 Loss Chronic lymphocytic leukemia
43 34255 1 54029769 55100800 Loss Chronic lymphocytic leukemia
44 34911 1 57712092 58034742 Gain Chronic lymphocytic leukemia
45 35379 1 62697088 63142732 Loss Chronic lymphocytic leukemia
46 35406 1 63335974 63596958 Gain Chronic lymphocytic leukemia
47 35407 1 63335974 63641668 Gain Chronic lymphocytic leukemia
48 36497 1 76364563 76710672 Loss Chronic lymphocytic leukemia
49 36890 1 82341866 82576806 Loss Chronic lymphocytic leukemia
50 36895 1 82581235 82812961 Loss Chronic lymphocytic leukemia

Expression for Leukemia, Chronic Lymphocytic 2

Search GEO for disease gene expression data for Leukemia, Chronic Lymphocytic 2.

Pathways for Leukemia, Chronic Lymphocytic 2

Pathways related to Leukemia, Chronic Lymphocytic 2 according to GeneCards Suite gene sharing:

(show top 50) (show all 88)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.93 BRAF HRAS KRAS NRAS PTPN11
2
Show member pathways
12.9 BRAF HRAS KRAS NRAS PTPN11 TP53
3 12.87 BRAF HRAS KRAS NRAS TP53
4
Show member pathways
12.81 BRAF HRAS KRAS NRAS TP53
5 12.8 BRAF HRAS KRAS NRAS TP53
6
Show member pathways
12.8 BRAF HRAS KRAS NRAS TP53
7
Show member pathways
12.77 BRAF HRAS KRAS NRAS PTPN11
8
Show member pathways
12.77 HRAS KRAS NRAS PTPN11 TP53
9
Show member pathways
12.72 BRAF HRAS KRAS NRAS TP53
10
Show member pathways
12.71 BRAF HRAS KRAS NRAS PTPN11 TP53
11
Show member pathways
12.63 HRAS KRAS NRAS PTPN11 TP53
12
Show member pathways
12.62 BRAF HRAS KRAS NRAS PTPN11
13
Show member pathways
12.57 BRAF HRAS KRAS NRAS TP53
14
Show member pathways
12.55 BRAF HRAS KRAS NRAS PTPN11
15
Show member pathways
12.53 BRAF HRAS KRAS NRAS TP53
16
Show member pathways
12.51 HRAS KRAS NRAS PTPN11
17
Show member pathways
12.47 HRAS KRAS NRAS PTPN11
18
Show member pathways
12.47 HRAS KRAS NRAS TP53
19
Show member pathways
12.46 HRAS KRAS NRAS PTPN11
20
Show member pathways
12.45 BRAF HRAS KRAS NRAS
21
Show member pathways
12.45 BRAF HRAS KRAS NRAS
22 12.45 HRAS KRAS NRAS TP53
23
Show member pathways
12.43 HRAS KRAS NRAS PTPN11
24
Show member pathways
12.43 HRAS KRAS NRAS PTPN11
25
Show member pathways
12.43 BRAF HRAS KRAS PTPN11
26
Show member pathways
12.4 BRAF HRAS KRAS NRAS PTPN11
27
Show member pathways
12.4 BRAF HRAS KRAS NRAS PTPN11 TP53
28
Show member pathways
12.39 HRAS KRAS NRAS PTPN11
29
Show member pathways
12.37 BRAF HRAS KRAS NRAS
30
Show member pathways
12.36 HRAS KRAS NRAS PTPN11
31
Show member pathways
12.33 BRAF HRAS KRAS NRAS
32 12.33 HRAS KRAS NRAS TP53
33
Show member pathways
12.27 HRAS KRAS NRAS PTPN11
34
Show member pathways
12.27 BRAF HRAS KRAS NRAS PTPN11
35 12.26 HRAS KRAS NRAS PTPN11
36
Show member pathways
12.25 HRAS KRAS NRAS PTPN11
37
Show member pathways
12.23 BRAF HRAS KRAS NRAS
38 12.22 BRAF HRAS KRAS PTPN11
39
Show member pathways
12.22 BRAF HRAS KRAS NRAS TP53
40 12.21 HRAS KRAS NRAS TP53
41
Show member pathways
12.18 HRAS KRAS NRAS PTPN11
42
Show member pathways
12.18 HRAS KRAS NRAS TP53
43 12.17 HRAS KRAS NRAS TP53
44
Show member pathways
12.13 BRAF HRAS KRAS NRAS
45
Show member pathways
12.13 BRAF HRAS KRAS NRAS TP53
46
Show member pathways
12.12 BRAF HRAS KRAS NRAS
47
Show member pathways
12.09 HRAS KRAS NRAS TP53
48
Show member pathways
12.09 BRAF HRAS KRAS NRAS TP53
49 12.04 HRAS KRAS NRAS TP53
50 12.03 HRAS KRAS NRAS TP53

GO Terms for Leukemia, Chronic Lymphocytic 2

Cellular components related to Leukemia, Chronic Lymphocytic 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.56 MIR106B MIR107 MIR143 MIR15A MIR16-1 MIR181A2
2 micro-ribonucleoprotein complex GO:0035068 9.32 MIR106B MIR107 MIR143 MIR145 MIR15A MIR16-1

Biological processes related to Leukemia, Chronic Lymphocytic 2 according to GeneCards Suite gene sharing:

(show all 27)
# Name GO ID Score Top Affiliating Genes
1 MAPK cascade GO:0000165 9.91 BRAF HRAS KRAS NRAS
2 positive regulation of gene expression GO:0010628 9.85 BRAF HRAS KRAS MIR29A MIR34A TP53
3 gene silencing by miRNA GO:0035195 9.85 MIR106B MIR107 MIR143 MIR145 MIR15A MIR16-1
4 stimulatory C-type lectin receptor signaling pathway GO:0002223 9.77 HRAS KRAS NRAS
5 negative regulation of protein kinase B signaling GO:0051898 9.75 MIR145 MIR29A MIR34A
6 negative regulation of G1/S transition of mitotic cell cycle GO:2000134 9.74 MIR15A MIR16-1 MIR29A
7 negative regulation of cell migration involved in sprouting angiogenesis GO:0090051 9.72 MIR15A MIR16-1 MIR424
8 negative regulation of vascular smooth muscle cell proliferation GO:1904706 9.69 MIR15A MIR34A MIR424
9 positive regulation of intrinsic apoptotic signaling pathway GO:2001244 9.67 MIR15A MIR16-1 TP53
10 positive regulation of cellular senescence GO:2000774 9.63 KRAS MIR34A
11 negative regulation of glucose import GO:0046325 9.63 MIR107 MIR143
12 positive regulation of connective tissue replacement GO:1905205 9.62 MIR16-1 MIR34A
13 negative regulation of vascular endothelial growth factor signaling pathway GO:1900747 9.62 MIR16-1 MIR424
14 angiotensin-activated signaling pathway GO:0038166 9.61 MIR143 MIR145
15 negative regulation of blood vessel endothelial cell proliferation involved in sprouting angiogenesis GO:1903588 9.61 MIR15A MIR16-1 MIR424
16 response to isolation stress GO:0035900 9.58 HRAS KRAS
17 aorta smooth muscle tissue morphogenesis GO:0060414 9.56 MIR143 MIR145
18 Ras protein signal transduction GO:0007265 9.56 HRAS KRAS NRAS TP53
19 negative regulation of endothelial cell chemotaxis to fibroblast growth factor GO:2000545 9.54 MIR16-1 MIR424
20 regulation of phenotypic switching GO:1900239 9.52 MIR143 MIR145
21 negative regulation of vascular associated smooth muscle cell migration GO:1904753 9.5 MIR15A MIR34A MIR424
22 miRNA mediated inhibition of translation GO:0035278 9.5 MIR106B MIR107 MIR145 MIR15A MIR16-1 MIR181A2
23 negative regulation of cell chemotaxis to fibroblast growth factor GO:1904848 9.48 MIR15A MIR16-1
24 negative regulation of endothelial cell chemotaxis to vascular endothelial growth factor GO:1904858 9.46 MIR16-1 MIR424
25 establishment or maintenance of cell type involved in phenotypic switching GO:0044663 9.4 MIR143 MIR145
26 negative regulation of angiogenesis GO:0016525 9.23 MIR106B MIR143 MIR145 MIR15A MIR16-1 MIR29A
27 negative regulation of cell proliferation GO:0008285 10 HRAS MIR15A MIR16-1 MIR29A TP53

Molecular functions related to Leukemia, Chronic Lymphocytic 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mRNA binding involved in posttranscriptional gene silencing GO:1903231 9.32 MIR106B MIR107 MIR143 MIR145 MIR15A MIR16-1

Sources for Leukemia, Chronic Lymphocytic 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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