• Gene id: 867

Gene Summary

• Gene Symbol: CBL   Gene   UCSC   Ensembl
• Aliases: C-CBL, CBL2, FRA11B, NSLL, RNF55
• Gene name: Cbl proto-oncogene
• Alternate names: E3 ubiquitin-protein ligase CBL, Cas-Br-M (murine) ecotropic retroviral transforming sequence, Cbl proto-oncogene, E3 ubiquitin protein ligase, RING finger protein 55, RING-type E3 ubiquitin transferase CBL, casitas B-lineage lymphoma proto-oncogene, fragile si,
• Gene location: 11q23.3 (119206338: 119308148)     Exons: 16     NC_000011.10
• Gene summary(Entrez): This gene is a proto-oncogene that encodes a RING finger E3 ubiquitin ligase. The encoded protein is one of the enzymes required for targeting substrates for degradation by the proteasome. This protein mediates the transfer of ubiquitin from ubiquitin con
• OMIM: 165360

SNPs

rs11677854

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000002.12   g.48664148C>T
NC_000002.11   g.48891287C>T
NG_033050.2   g.139224C>T
NG_033050.1   g.139224C>T|SEQ=[C/T]|GENE=GTF2A1L
STON1-GTF2A1L   286749

rs7371084

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000002.12   g.48712814T>C
NC_000002.11   g.48939953T>C
NG_033050.2   g.187890T>C
NG_033050.1   g.187890T>C
NG_008193.2   g.47928A>G
NG_008193.1   g.47928A>G|SEQ=[T/C]|GENE=LHCGR
STON1-GTF2A1L   286749

rs68073206

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000002.12   g.48721568A>C
NC_000002.11   g.48948707A>C
NG_033050.2   g.196644A>C
NG_033050.1   g.196644A>C
NG_008193.2   g.39174T>G
NG_008193.1   g.39174T>G|SEQ=[A/C]|GENE=LHCGR
STON1-GTF2A1L   286749

rs12470652

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000002.12   g.48694299T>C
NC_000002.11   g.48921438T>C
NG_033050.2   g.169375T>C
NG_033050.1   g.169375T>C
NG_008193.2   g.66443A>G
NG_008193.1   g.66443A>G
NM_000233.4   c.872A>G
NM_000233.3   c.872A>G
XM_005264309.3   c.-69A>G
XM_017004089.1   c.617A>G
XM_017004090  

rs2293275

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000002.12   g.48694236T>C
NC_000002.12   g.48694236T>G
NC_000002.11   g.48921375T>C
NC_000002.11   g.48921375T>G
NG_033050.2   g.169312T>C
NG_033050.2   g.169312T>G
NG_033050.1   g.169312T>C
NG_033050.1   g.169312T>G
NG_008193.2   g.66506A>G
NG_008193.2   g.66506A>C
  

rs4597581

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000002.12   g.48731456A>G
NC_000002.11   g.48958595A>G
NG_033050.2   g.206532A>G
NG_033050.1   g.206532A>G
NG_008193.2   g.29286T>C
NG_008193.1   g.29286T>C|SEQ=[A/G]|GENE=LHCGR
STON1-GTF2A1L   286749

rs4953617

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000002.12   g.48726070C>G
NC_000002.12   g.48726070C>T
NC_000002.11   g.48953209C>G
NC_000002.11   g.48953209C>T
NG_033050.2   g.201146C>G
NG_033050.2   g.201146C>T
NG_033050.1   g.201146C>G
NG_033050.1   g.201146C>T
NG_008193.2   g.34672G>C
NG_008193.2   g.34672G>A
  

Protein Summary

• Protein general information: P22681  
  • Name: E3 ubiquitin protein ligase CBL (EC 2.3.2.27) (Casitas B lineage lymphoma proto oncogene) (Proto oncogene c Cbl) (RING finger protein 55) (RING type E3 ubiquitin transferase CBL) (Signal transduction protein CBL)
  • Length: 906  
  • Mass: 99633
• Sequence:

  MAGNVKKSSGAGGGSGSGGSGSGGLIGLMKDAFQPHHHHHHHLSPHPPGTVDKKMVEKCWKLMDKVVRLCQNPKL
  ALKNSPPYILDLLPDTYQHLRTILSRYEGKMETLGENEYFRVFMENLMKKTKQTISLFKEGKERMYEENSQPRRN
  LTKLSLIFSHMLAELKGIFPSGLFQGDTFRITKADAAEFWRKAFGEKTIVPWKSFRQALHEVHPISSGLEAMALK
  STIDLTCNDYISVFEFDIFTRLFQPWSSLLRNWNSLAVTHPGYMAFLTYDEVKARLQKFIHKPGSYIFRLSCTRL
  GQWAIGYVTADGNILQTIPHNKPLFQALIDGFREGFYLFPDGRNQNPDLTGLCEPTPQDHIKVTQEQYELYCEMG
  STFQLCKICAENDKDVKIEPCGHLMCTSCLTSWQESEGQGCPFCRCEIKGTEPIVVDPFDPRGSGSLLRQGAEGA
  PSPNYDDDDDERADDTLFMMKELAGAKVERPPSPFSMAPQASLPPVPPRLDLLPQRVCVPSSASALGTASKAASG
  SLHKDKPLPVPPTLRDLPPPPPPDRPYSVGAESRPQRRPLPCTPGDCPSRDKLPPVPSSRLGDSWLPRPIPKVPV
  SAPSSSDPWTGRELTNRHSLPFSLPSQMEPRPDVPRLGSTFSLDTSMSMNSSPLVGPECDHPKIKPSSSANAIYS
  LAARPLPVPKLPPGEQCEGEEDTEYMTPSSRPLRPLDTSQSSRACDCDQQIDSCTYEAMYNIQSQAPSITESSTF
  GEGNLAAAHANTGPEESENEDDGYDVPKPPVPAVLARRTLSDISNASSSFGWLSLDGDPTTNVTEGSQVPERPPK
  PFPRRINSERKAGSCQQGSGPAASAATASPQLSSEIENLMSQGYSYQDIQKALVIAQNNIEMAKNILREFVSISS
  PAHVAT

• Structural information:
  • Protein Domains: (47..35-)
    (/note="Cbl-PTB-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00839-)
    (856..89-)
    (/note="UBA-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00212"-)
  • Interpro: IPR024162  IPR014741  IPR036537  IPR003153  IPR014742   IPR039520  IPR024159  IPR011992  IPR036860  IPR015940  IPR009060  IPR001841  IPR013083  IPR017907  
  • Prosite: PS51506 PS50030 PS00518 PS50089
  • CDD: cd16709 cd09920
  • PDB: 1B47 1FBV 1YVH 2CBL 2JUJ 2K4D 2OO9 2Y1M 2Y1N 3BUM 3BUN 3BUO 3BUW 3BUX 3OB1 3OB2 3PLF 4A49 4A4B 4A4C 4GPL 5HKW 5HKX 5HKY 5HKZ 5HL0 5J3X 5O76
  • PDBsum: 1B47 1FBV 1YVH 2CBL 2JUJ 2K4D 2OO9 2Y1M 2Y1N 3BUM 3BUN 3BUO 3BUW 3BUX 3OB1 3OB2 3PLF 4A49 4A4B 4A4C 4GPL 5HKW 5HKX 5HKY 5HKZ 5HL0 5J3X 5O76
  • DIP: 189
  • STRING: ENSP00000264033
• Other Databases: GeneCards:  CBL  Malacards:  CBL

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0004842	ubiquitin-protein transferase activity	TAS	molecular function
GO:0007166	cell surface receptor signaling pathway	TAS	biological process
GO:0007173	epidermal growth factor receptor signaling pathway	TAS	biological process
GO:0048260	positive regulation of receptor-mediated endocytosis	TAS	biological process
GO:0005886	plasma membrane	IDA	cellular component
GO:0016567	protein ubiquitination	TAS	biological process
GO:0007165	signal transduction	IBA	biological process
GO:0007175	negative regulation of epidermal growth factor-activated receptor activity	IBA	biological process
GO:0017124	SH3 domain binding	IBA	molecular function
GO:0045121	membrane raft	IBA	cellular component
GO:0061630	ubiquitin protein ligase activity	IBA	molecular function
GO:0005886	plasma membrane	IBA	cellular component
GO:0030971	receptor tyrosine kinase binding	IBA	molecular function
GO:0005794	Golgi apparatus	IDA	cellular component
GO:0005929	cilium	IDA	cellular component
GO:0046875	ephrin receptor binding	IPI	molecular function
GO:2000583	regulation of platelet-derived growth factor receptor-alpha signaling pathway	ISS	biological process
GO:0006511	ubiquitin-dependent protein catabolic process	IMP	biological process
GO:0048260	positive regulation of receptor-mediated endocytosis	IMP	biological process
GO:0042059	negative regulation of epidermal growth factor receptor signaling pathway	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0004842	ubiquitin-protein transferase activity	IEA	molecular function
GO:0005509	calcium ion binding	IEA	molecular function
GO:0023051	regulation of signaling	IEA	biological process
GO:0001784	phosphotyrosine residue binding	IEA	molecular function
GO:0007166	cell surface receptor signaling pathway	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0016740	transferase activity	IEA	molecular function
GO:0042995	cell projection	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0007179	transforming growth factor beta receptor signaling pathway	TAS	biological process
GO:0008543	fibroblast growth factor receptor signaling pathway	TAS	biological process
GO:0008543	fibroblast growth factor receptor signaling pathway	TAS	biological process
GO:0008543	fibroblast growth factor receptor signaling pathway	TAS	biological process
GO:0008543	fibroblast growth factor receptor signaling pathway	TAS	biological process
GO:0042059	negative regulation of epidermal growth factor receptor signaling pathway	TAS	biological process
GO:0045742	positive regulation of epidermal growth factor receptor signaling pathway	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0019221	cytokine-mediated signaling pathway	TAS	biological process
GO:0035635	entry of bacterium into host cell	TAS	biological process
GO:0061024	membrane organization	TAS	biological process
GO:0061630	ubiquitin protein ligase activity	TAS	molecular function
GO:0061630	ubiquitin protein ligase activity	TAS	molecular function
GO:0061630	ubiquitin protein ligase activity	TAS	molecular function
GO:0061630	ubiquitin protein ligase activity	TAS	molecular function
GO:0070102	interleukin-6-mediated signaling pathway	TAS	biological process
GO:0004842	ubiquitin-protein transferase activity	TAS	molecular function
GO:0004842	ubiquitin-protein transferase activity	TAS	molecular function
GO:0004842	ubiquitin-protein transferase activity	TAS	molecular function
GO:0004842	ubiquitin-protein transferase activity	TAS	molecular function
GO:0004842	ubiquitin-protein transferase activity	TAS	molecular function
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:1990090	cellular response to nerve growth factor stimulus	IEA	biological process
GO:1901215	negative regulation of neuron death	IEA	biological process
GO:0090650	cellular response to oxygen-glucose deprivation	IEA	biological process
GO:0061630	ubiquitin protein ligase activity	IEA	molecular function
GO:0048471	perinuclear region of cytoplasm	IEA	cellular component
GO:0046677	response to antibiotic	IEA	biological process
GO:0045471	response to ethanol	IEA	biological process
GO:0045121	membrane raft	IEA	cellular component
GO:0043303	mast cell degranulation	IEA	biological process
GO:0042594	response to starvation	IEA	biological process
GO:0036312	phosphatidylinositol 3-kinase regulatory subunit binding	IEA	molecular function
GO:0036120	cellular response to platelet-derived growth factor stimulus	IEA	biological process
GO:0030424	axon	IEA	cellular component
GO:0017124	SH3 domain binding	IEA	molecular function
GO:0014823	response to activity	IEA	biological process
GO:0010332	response to gamma radiation	IEA	biological process
GO:0005154	epidermal growth factor receptor binding	IEA	molecular function
GO:2000583	regulation of platelet-derived growth factor receptor-alpha signaling pathway	IEA	biological process
GO:0046875	ephrin receptor binding	IEA	molecular function
GO:0017124	SH3 domain binding	IEA	molecular function
GO:0016600	flotillin complex	IEA	cellular component
GO:0005794	Golgi apparatus	IEA	cellular component
GO:1990782	protein tyrosine kinase binding	IEA	molecular function
GO:0071364	cellular response to epidermal growth factor stimulus	IEA	biological process
GO:0070997	neuron death	IEA	biological process
GO:0033574	response to testosterone	IEA	biological process
GO:0030426	growth cone	IEA	cellular component
GO:0019901	protein kinase binding	IEA	molecular function
GO:0008584	male gonad development	IEA	biological process
GO:0006974	cellular response to DNA damage stimulus	IEA	biological process
GO:0006513	protein monoubiquitination	IEA	biological process
GO:0005925	focal adhesion	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0000209	protein polyubiquitination	IEA	biological process
GO:0032487	regulation of Rap protein signal transduction	IEA	biological process
GO:0005929	cilium	IEA	cellular component
GO:0017124	SH3 domain binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0045296	cadherin binding	HDA	molecular function
GO:0014068	positive regulation of phosphatidylinositol 3-kinase signaling	IMP	biological process
GO:0016600	flotillin complex	ISS	colocalizes with
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005929	cilium	IEA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0042629	mast cell granule	IEA	cellular component
GO:0016567	protein ubiquitination	IEA	biological process
GO:0043066	negative regulation of apoptotic process	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa05200	Pathways in cancer
hsa04144	Endocytosis
hsa05205	Proteoglycans in cancer
hsa04120	Ubiquitin mediated proteolysis
hsa04910	Insulin signaling pathway
hsa04012	ErbB signaling pathway
hsa05100	Bacterial invasion of epithelial cells
hsa05220	Chronic myeloid leukemia

Diseases

Associated diseases	References
Myelodysplastic/myeloproliferative neoplasms	KEGG:H02410
Chronic myelomonocytic leukemia	KEGG:H02411
Noonan syndrome and related disorders	KEGG:H00523
Atypical chronic myeloid leukemia	KEGG:H02412
CBL syndrome	KEGG:H02190
Myelodysplastic/myeloproliferative neoplasms	KEGG:H02410
Chronic myelomonocytic leukemia	KEGG:H02411
Noonan syndrome and related disorders	KEGG:H00523
Atypical chronic myeloid leukemia	KEGG:H02412
CBL syndrome	KEGG:H02190
Juvenile myelomonocytic leukemia	PMID:19571318
Myeloid neoplasm	PMID:19387008
Myeloid neoplasm	PMID:22315494
lung non-small cell carcinoma	PMID:20126411
congestive heart failure	PMID:24583314
acute myeloid leukemia	PMID:22131879
multiple myeloma	PMID:23948411
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881