Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs Transcription factors Other IDs Associated diseases
Entrez ID	1436
Gene name	Colony stimulating factor 1 receptor
Gene symbol	CSF1R
Synonyms (NCBI Gene)	BANDDOSC-FMSCD115CSF-1RCSFRFIM2FMSGPSCHDLSHDLS1M-CSF-R
Chromosome	5
Chromosome location	5q32
Summary	The protein encoded by this gene is the receptor for colony stimulating factor 1, a cytokine which controls the production, differentiation, and function of macrophages. This receptor mediates most if not all of the biological effects of this cytokine. Li

Show/Hide all (61)

SNP ID	Visualize variation	Clinical significance	Consequence
rs1801271	T>A,C	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs121913390	A>G,T	Likely-pathogenic	Missense variant, coding sequence variant, stop gained, non coding transcript variant
rs121913392	A>C,T	Likely-pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs121913393	A>G	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs143025739	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Non coding transcript variant, missense variant, coding sequence variant, 5 prime UTR variant
rs184499252	G>A,T	Likely-benign, benign, pathogenic	Missense variant, synonymous variant, non coding transcript variant, coding sequence variant
rs281860267	T>C	Pathogenic	Splice acceptor variant
rs281860268	C>T	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs281860269	C>T	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs281860270	A>G	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs281860271	C>G,T	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs281860272	T>C	Pathogenic	Splice acceptor variant
rs281860273	A>T	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs281860274	A>G	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs281860275	C>G	Pathogenic	Intron variant
rs281860276	AGA>-	Pathogenic	Inframe deletion, coding sequence variant, non coding transcript variant
rs281860277	A>G	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs281860278	A>C,G	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs281860279	A>G	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs281860280	G>T	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs281860281	C>A,T	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs387906662	C>A	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs397515555	C>T	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs397515556	G>A	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs397515557	A>G	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs587777245	->A	Pathogenic	Coding sequence variant, frameshift variant, intron variant
rs587777246	C>A	Pathogenic	Splice donor variant
rs587777247	G>A,T	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs690016546	T>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs690016547	A>C	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs690016548	C>T	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs690016549	A>G,T	Pathogenic, likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs690016550	A>G	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs690016551	C>G	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs690016552	A>G	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs690016553	G>A	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs690016554	T>C	Pathogenic	Splice acceptor variant
rs690016555	A>T	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs690016556	G>A	Pathogenic, likely-pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs690016557	C>G,T	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs690016558	T>A	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs690016559	A>G	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs690016560	A>G	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs690016561	T>G	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs690016562	G>A	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs690016563	A>G	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs690016564	C>T	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs690016565	A>T	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs690016566	C>T	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs917027829	G>A,T	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant, stop gained
rs1057519802	A>C	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs1057520014	C>A	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs1351319114	G>A	Pathogenic	Missense variant, non coding transcript variant, 5 prime UTR variant, coding sequence variant
rs1554101963	TCT>-	Uncertain-significance, pathogenic	Coding sequence variant, inframe deletion, non coding transcript variant
rs1561901881	C>G	Likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs1561904557	GGAT>TGCC	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs1561905293	G>A	Likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs1561912628	C>T	Pathogenic	Intron variant
rs1561913526	C>G	Pathogenic	Splice acceptor variant
rs1581280059	G>T	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs1581289103	CT>-	Pathogenic	Intron variant

Show/Hide all (62)

miRTarBase ID	miRNA	Experiments	Reference
MIRT006103	hsa-miR-155-5p	ELISALuciferase reporter assayqRT-PCRWestern blot	21355095
MIRT006103	hsa-miR-155-5p	ELISALuciferase reporter assayqRT-PCRWestern blot	21355095
MIRT006103	hsa-miR-155-5p	ELISALuciferase reporter assayqRT-PCRWestern blot	21355095
MIRT006103	hsa-miR-155-5p	Other	20584899
MIRT438232	hsa-miR-22-3p	Luciferase reporter assayqRT-PCR	24198819
MIRT438232	hsa-miR-22-3p	Luciferase reporter assayqRT-PCR	24198819
MIRT438231	hsa-miR-34a-5p	Luciferase reporter assayqRT-PCR	24198819
MIRT438231	hsa-miR-34a-5p	Luciferase reporter assayqRT-PCR	24198819
MIRT006103	hsa-miR-155-5p	Luciferase reporter assayqRT-PCR	24198819
MIRT006103	hsa-miR-155-5p	Luciferase reporter assayqRT-PCR	24198819
MIRT438232	hsa-miR-22-3p	Luciferase reporter assayqRT-PCR	24198819
MIRT438232	hsa-miR-22-3p	Luciferase reporter assayqRT-PCR	24198819
MIRT438231	hsa-miR-34a-5p	Luciferase reporter assayqRT-PCR	24198819
MIRT438231	hsa-miR-34a-5p	Luciferase reporter assayqRT-PCR	24198819
MIRT006103	hsa-miR-155-5p	Luciferase reporter assayqRT-PCR	24198819
MIRT006103	hsa-miR-155-5p	Luciferase reporter assayqRT-PCR	24198819
MIRT911688	hsa-miR-2861	CLIP-seq
MIRT911689	hsa-miR-3120-5p	CLIP-seq
MIRT911690	hsa-miR-3160-3p	CLIP-seq
MIRT911691	hsa-miR-3659	CLIP-seq
MIRT911692	hsa-miR-3675-5p	CLIP-seq
MIRT911693	hsa-miR-3689a-3p	CLIP-seq
MIRT911694	hsa-miR-3689c	CLIP-seq
MIRT911695	hsa-miR-4487	CLIP-seq
MIRT911696	hsa-miR-4639-3p	CLIP-seq
MIRT911697	hsa-miR-4651	CLIP-seq
MIRT911698	hsa-miR-4658	CLIP-seq
MIRT911699	hsa-miR-4727-5p	CLIP-seq
MIRT911700	hsa-miR-4728-5p	CLIP-seq
MIRT911701	hsa-miR-4769-3p	CLIP-seq
MIRT911702	hsa-miR-558	CLIP-seq
MIRT911703	hsa-miR-574-5p	CLIP-seq
MIRT911704	hsa-miR-608	CLIP-seq
MIRT911705	hsa-miR-622	CLIP-seq
MIRT911700	hsa-miR-4728-5p	CLIP-seq
MIRT2206225	hsa-miR-3175	CLIP-seq
MIRT911693	hsa-miR-3689a-3p	CLIP-seq
MIRT911694	hsa-miR-3689c	CLIP-seq
MIRT2206226	hsa-miR-4265	CLIP-seq
MIRT2206227	hsa-miR-4296	CLIP-seq
MIRT2206228	hsa-miR-4322	CLIP-seq
MIRT2206229	hsa-miR-4648	CLIP-seq
MIRT2206230	hsa-miR-4654	CLIP-seq
MIRT2206231	hsa-miR-4670-3p	CLIP-seq
MIRT2206232	hsa-miR-4693-3p	CLIP-seq
MIRT911700	hsa-miR-4728-5p	CLIP-seq
MIRT2206233	hsa-miR-4769-5p	CLIP-seq
MIRT2447701	hsa-miR-219-1-3p	CLIP-seq
MIRT2206225	hsa-miR-3175	CLIP-seq
MIRT2447702	hsa-miR-3616-5p	CLIP-seq
MIRT2447703	hsa-miR-3647-5p	CLIP-seq
MIRT911693	hsa-miR-3689a-3p	CLIP-seq
MIRT911694	hsa-miR-3689c	CLIP-seq
MIRT2206226	hsa-miR-4265	CLIP-seq
MIRT2206227	hsa-miR-4296	CLIP-seq
MIRT2206228	hsa-miR-4322	CLIP-seq
MIRT2206229	hsa-miR-4648	CLIP-seq
MIRT2206230	hsa-miR-4654	CLIP-seq
MIRT2206231	hsa-miR-4670-3p	CLIP-seq
MIRT911700	hsa-miR-4728-5p	CLIP-seq
MIRT2206233	hsa-miR-4769-5p	CLIP-seq
MIRT2447704	hsa-miR-573	CLIP-seq

Show/Hide all (2)

Transcription factor	Regulation	Reference
NR3C1	Unknown	11891846
RUNX1	Unknown	8585955;9209363

102

Show/Hide all (102)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0001934	Process	Positive regulation of protein phosphorylation	IMP	20504948
GO:0002376	Process	Immune system process	IEA
GO:0002573	Process	Myeloid leukocyte differentiation	IEA
GO:0002931	Process	Response to ischemia	IEA
GO:0002931	Process	Response to ischemia	ISS	8922060
GO:0004672	Function	Protein kinase activity	IEA
GO:0004713	Function	Protein tyrosine kinase activity	IEA
GO:0004713	Function	Protein tyrosine kinase activity	TAS	23392676
GO:0004714	Function	Transmembrane receptor protein tyrosine kinase activity	IEA
GO:0005011	Function	Macrophage colony-stimulating factor receptor activity	IBA
GO:0005011	Function	Macrophage colony-stimulating factor receptor activity	IEA
GO:0005011	Function	Macrophage colony-stimulating factor receptor activity	IMP	7683918, 20504948
GO:0005011	Function	Macrophage colony-stimulating factor receptor activity	ISS
GO:0005011	Function	Macrophage colony-stimulating factor receptor activity	TAS	8981357
GO:0005515	Function	Protein binding	IPI	22153499, 22483114, 22902366, 23478061, 26235028, 35384245
GO:0005524	Function	ATP binding	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS	2421165
GO:0006950	Process	Response to stress	IEA
GO:0006954	Process	Inflammatory response	IEA
GO:0006954	Process	Inflammatory response	TAS	19132917
GO:0007165	Process	Signal transduction	TAS	8981357
GO:0007169	Process	Cell surface receptor protein tyrosine kinase signaling pathway	IBA
GO:0007169	Process	Cell surface receptor protein tyrosine kinase signaling pathway	IEA
GO:0007169	Process	Cell surface receptor protein tyrosine kinase signaling pathway	ISS
GO:0007411	Process	Axon guidance	IEA
GO:0008283	Process	Cell population proliferation	IEA
GO:0008283	Process	Cell population proliferation	IMP	7683918
GO:0008283	Process	Cell population proliferation	TAS	8981357
GO:0008284	Process	Positive regulation of cell population proliferation	IBA
GO:0008284	Process	Positive regulation of cell population proliferation	IEA
GO:0008284	Process	Positive regulation of cell population proliferation	IMP	20504948
GO:0008285	Process	Negative regulation of cell population proliferation	IEA
GO:0008360	Process	Regulation of cell shape	IEA
GO:0008360	Process	Regulation of cell shape	IMP	15117969
GO:0009653	Process	Anatomical structure morphogenesis	IEA
GO:0009986	Component	Cell surface	IEA
GO:0009986	Component	Cell surface	ISS	8922060
GO:0010759	Process	Positive regulation of macrophage chemotaxis	IGI	26754294
GO:0016020	Component	Membrane	IEA
GO:0016301	Function	Kinase activity	IEA
GO:0016477	Process	Cell migration	IBA
GO:0016740	Function	Transferase activity	IEA
GO:0018108	Process	Peptidyl-tyrosine phosphorylation	IDA	20504948
GO:0019221	Process	Cytokine-mediated signaling pathway	IEA
GO:0019221	Process	Cytokine-mediated signaling pathway	IMP	20504948
GO:0019838	Function	Growth factor binding	IBA
GO:0019903	Function	Protein phosphatase binding	IEA
GO:0019955	Function	Cytokine binding	IDA	20504948
GO:0019955	Function	Cytokine binding	IEA
GO:0019955	Function	Cytokine binding	ISS	19017797
GO:0021772	Process	Olfactory bulb development	IEA
GO:0021879	Process	Forebrain neuron differentiation	IEA
GO:0022604	Process	Regulation of cell morphogenesis	IEA
GO:0030097	Process	Hemopoiesis	IMP	7683918
GO:0030224	Process	Monocyte differentiation	TAS	19132917
GO:0030225	Process	Macrophage differentiation	TAS	19132917
GO:0030316	Process	Osteoclast differentiation	IBA
GO:0030316	Process	Osteoclast differentiation	IEA
GO:0030316	Process	Osteoclast differentiation	ISS
GO:0030335	Process	Positive regulation of cell migration	IBA
GO:0031529	Process	Ruffle organization	IEA
GO:0031529	Process	Ruffle organization	ISS
GO:0032722	Process	Positive regulation of chemokine production	IMP	20829061
GO:0032956	Process	Regulation of actin cytoskeleton organization	IEA
GO:0032956	Process	Regulation of actin cytoskeleton organization	ISS
GO:0036006	Process	Cellular response to macrophage colony-stimulating factor stimulus	IEA
GO:0036006	Process	Cellular response to macrophage colony-stimulating factor stimulus	IMP	7683918, 20504948
GO:0038145	Process	Macrophage colony-stimulating factor signaling pathway	IEA
GO:0038145	Process	Macrophage colony-stimulating factor signaling pathway	ISS
GO:0042531	Process	Positive regulation of tyrosine phosphorylation of STAT protein	ISS
GO:0042803	Function	Protein homodimerization activity	IEA
GO:0042803	Function	Protein homodimerization activity	ISS	19017797
GO:0043066	Process	Negative regulation of apoptotic process	IEA
GO:0043235	Component	Receptor complex	IBA
GO:0043408	Process	Regulation of MAPK cascade	IBA
GO:0044794	Process	Host-mediated activation of viral process	IEA
GO:0045087	Process	Innate immune response	IEA
GO:0045124	Process	Regulation of bone resorption	ISS
GO:0045217	Process	Cell-cell junction maintenance	IMP	15117969
GO:0046777	Process	Protein autophosphorylation	IDA	20504948
GO:0048513	Process	Animal organ development	IEA
GO:0051897	Process	Positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	IEA
GO:0051897	Process	Positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	ISS
GO:0060603	Process	Mammary gland duct morphogenesis	TAS	15117969
GO:0061098	Process	Positive regulation of protein tyrosine kinase activity	IMP	7681396
GO:0061518	Process	Microglial cell proliferation	IEA
GO:0070374	Process	Positive regulation of ERK1 and ERK2 cascade	IEA
GO:0070374	Process	Positive regulation of ERK1 and ERK2 cascade	ISS
GO:0071345	Process	Cellular response to cytokine stimulus	IEA
GO:0071345	Process	Cellular response to cytokine stimulus	ISS
GO:0120041	Process	Positive regulation of macrophage proliferation	IGI	26754294
GO:1905521	Process	Regulation of macrophage migration	IEA
GO:1905521	Process	Regulation of macrophage migration	ISS
GO:1990682	Component	CSF1-CSF1R complex	IBA
GO:1990682	Component	CSF1-CSF1R complex	IEA
GO:1990682	Component	CSF1-CSF1R complex	ISS	19017797
GO:2000147	Process	Positive regulation of cell motility	IMP	15117969

MIM	HGNC	e!Ensembl
164770	2433	ENSG00000182578

P07333

Protein name

Macrophage colony-stimulating factor 1 receptor (CSF-1 receptor) (CSF-1-R) (CSF-1R) (M-CSF-R) (EC 2.7.10.1) (Proto-oncogene c-Fms) (CD antigen CD115)

Protein function

Tyrosine-protein kinase that acts as a cell-surface receptor for CSF1 and IL34 and plays an essential role in the regulation of survival, proliferation and differentiation of hematopoietic precursor cells, especially mononuclear phagocytes, such

PDB

2I0V , 2I0Y , 2I1M , 2OGV , 3BEA , 3DPK , 3KRJ , 3KRL , 3LCD , 3LCO , 4DKD , 4HW7 , 4LIQ , 4R7H , 4R7I , 4WRL , 4WRM , 6IG8 , 6N33 , 6T2W , 6WXJ , 7MFC , 8CGC , 8JOT , 8W1L

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00047	ig	207 → 293	Immunoglobulin domain	Domain
PF13927	Ig_3	397 → 489		Domain
PF07714	PK_Tyr_Ser-Thr	582 → 910	Protein tyrosine and serine/threonine kinase	Domain

Tissue specificity

TISSUE SPECIFICITY: Expressed in bone marrow and in differentiated blood mononuclear cells.

Sequence

MGPGVLLLLLVATAWHGQGIPVIEPSVPELVVKPGATVTLRCVGNGSVEWDGPPSPHWTL
YSDGSSSILSTNNATFQNTGTYRCTEPGDPLGGSAAIHLYVKDPARPWNVLAQEVVVFED
QDALLPCLLTDPVLEAGVSLVRVRGRPLMRHTNYSFSPWHGFTIHRAKFIQSQDYQCSAL
MGGRKVMSISIRLKVQKVIPGPPALTLVPAELVRIRGEAAQIVCSASSVDVNFDVFLQHN
NTKLAIPQQSDFHNNRYQKVLTLNLDQVDFQHAGNYSCVASNVQGKHSTSMFFRVVESAY
LNLSSEQNLIQEVTVGEGLNLKVMVEAYPGLQGFNWTYLGPFSDHQPEPKLANATTKDTY
RHTFTLSLPRLKPSEAGRYSFLARNPGGWRALTFELTLRYPPEVSVIWTFINGSGTLLCA
ASGYPQPNVTWLQCSGHTDRCDEAQVLQVWDDPYPEVLSQEPFHKVTVQSLLTVETLEHN
QTYECRAHNSVGSGSWAFIPISAGAHTHPPDEFLFTPVVVACMSIMALLLLLLLLLLYKY
KQKPKYQVRWKIIESYEGNSYTFIDPTQLPYNEKWEFPRNNLQFGKTLGAGAFGKVVEAT
AFGLGKEDAVLKVAVKMLKSTAHADEKEALMSELKIMSHLGQHENIVNLLGACTHGGPVL
VITEYCCYGDLLNFLRRKAEAMLGPSLSPGQDPEGGVDYKNIHLEKKYVRRDSGFSSQGV
DTYVEMRPVSTSSNDSFSEQDLDKEDGRPLELRDLLHFSSQVAQGMAFLASKNCIHRDVA
ARNVLLTNGHVAKIGDFGLARDIMNDSNYIVKGNARLPVKWMAPESIFDCVYTVQSDVWS
YGILLWEIFSLGLNPYPGILVNSKFYKLVKDGYQMAQPAFAPKNIYSIMQACWALEPTHR
PTFQQICSFLQEQAQEDRRERDYTNLPSSSRSGGSGSSSSELEEESSSEHLTCCEQGDIA
QPLLQPNNYQFC

Sequence length

972

Interactions

View interactions

375

Show/Hide Causal Diseases (6)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Alzheimer disease	Likely pathogenic	rs1561901881, rs1561905293	RCV000736245 RCV000736246
Brain abnormalities, neurodegeneration, and dysosteosclerosis	Pathogenic; Likely pathogenic	rs1757862455, rs1758310413, rs690016564, rs2481050185, rs1757203198, rs2113778038, rs1757197459, rs281860281, rs917027829, rs1581289103, rs1561913526	RCV001331371 RCV003989027 RCV003989326 RCV003150922 RCV005412541 RCV003995102 RCV004587855 RCV002482936 RCV000785985 RCV000785988 RCV000785989
CSF1R-related disorder	Likely pathogenic; Pathogenic	rs2113779576, rs690016548, rs281860274, rs1757529135	RCV003401656 RCV003398795 RCV003944835 RCV004751942
CSF1R-related leukoencephalopathy	Likely pathogenic	rs281860277	RCV005417368
Hereditary diffuse leukoencephalopathy with spheroids	Pathogenic; Likely pathogenic	rs587777245, rs587777246, rs587777247, rs2113779576, rs767475362, rs2113778666, rs780804532, rs690016554, rs690016556, rs690016562, rs690016564, rs690016548, rs281860279, rs281860269, rs281860267 View all (10 more)	RCV000106403 RCV000106404 RCV000106405 RCV001724744 RCV001808039 RCV001823037 RCV002249843 RCV000149529 RCV000149532 RCV000149538 RCV000149540 RCV000149530 RCV000149523 RCV000022684 RCV000022685 RCV000022686 RCV000022687 RCV000022688 RCV000031932 RCV001849409 RCV000754617 RCV000055911 RCV000055912 RCV001249332 RCV001257140 RCV001261535
Leukoencephalopathy, diffuse hereditary, with spheroids 1	Likely pathogenic; Pathogenic	rs1403823146, rs2113779576, rs1757422149, rs690016548, rs2480950041, rs1757203198, rs2480936022, rs2113779595, rs281860269, rs281860274, rs281860281, rs1757529135, rs1757528753	RCV003333152 RCV002290740 RCV006257340 RCV004760398 RCV003326726 RCV003321454 RCV003334444 RCV003994624 RCV005252696 RCV004795936 RCV002482936 RCV003152755 RCV003393930

Show/Hide Unknown Diseases (10)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Likely benign; Conflicting classifications of pathogenicity	rs202034759, rs149168939	RCV005925395 RCV005898950
Colon adenocarcinoma	Conflicting classifications of pathogenicity	rs149168939	RCV005898949
CSF1R-Related Adult-Onset Leukoencephalopathy	Conflicting classifications of pathogenicity	rs2113779247	RCV003492704
Frontotemporal dementia	Conflicting classifications of pathogenicity	rs1757092904	RCV001090101
Glioma susceptibility 1	Likely benign	rs779661379	RCV005925396
Malignant tumor of esophagus	Uncertain significance	rs370155999	RCV005925500
Melanoma	Likely benign	rs759716223	RCV005934632
Parkinsonian disorder	Conflicting classifications of pathogenicity	rs750413238	RCV000415068
Sarcoma	Benign	rs202216061	RCV005898948
See cases	Uncertain significance	rs771254626	RCV001197110

Show/Hide Text Mining Associations (184)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
AA amyloidosis	Associate	33350588
Adenocarcinoma of Lung	Associate	35946526
Agenesis of Corpus Callosum	Associate	31520500, 39374256
Alcohol Related Disorders	Associate	39217398
Alcoholism	Associate	24428556
Alzheimer Disease	Associate	29486463, 30917570, 31182772, 33350588, 36042609, 36189598
Arthritis	Associate	24100919
Arthritis Juvenile	Associate	37904379
Arthritis Psoriatic	Associate	24100919
Arthritis Rheumatoid	Associate	28659662, 35304503
Asthma	Associate	20574656
Ataxia Telangiectasia	Associate	30541986
Atherosclerosis	Associate	1557388, 32787365, 35304503, 37810795, 7883962, 8628293, 8985146
Atrial Fibrillation	Associate	36653368
Atrophy	Associate	23816250
Attention Deficit Disorder with Hyperactivity	Associate	26141825
Bone Marrow Diseases	Associate	1390197
Bone Resorption	Associate	20644169
Bradycardia	Associate	34004232
Brain Diseases	Associate	35119108
Breast Neoplasms	Stimulate	1390197
Breast Neoplasms	Associate	20974809, 31575382, 32799413, 32847933, 33941620, 34155128
Calcinosis	Associate	28824062
Calcinosis Cutis	Associate	1390197
Carcinogenesis	Associate	34256095
Carcinoma	Associate	15117969, 2663797
Carcinoma Giant Cell	Associate	35697931
Carcinoma Hepatocellular	Associate	20551429
Carcinoma Non Small Cell Lung	Associate	33153411, 36161776
Carcinoma Ovarian Epithelial	Associate	9376277
Carcinoma Pancreatic Ductal	Associate	32173982
Carcinoma Renal Cell	Associate	11092615, 19377443, 36854280, 37515929
Carcinoma Renal Cell	Stimulate	18592004, 9845545
Carcinoma Squamous Cell	Associate	28099906, 33153411, 33428598
Cardiomyopathy Restrictive	Associate	31520500
Carney Complex	Associate	36914885
Carotid Artery Diseases	Associate	40489880
Central Nervous System Diseases	Associate	37407261
Central Nervous System Vascular Malformations	Associate	28383543
Cerebellar Diseases	Associate	31520500
Cerebral Amyloid Angiopathy	Associate	33350588
Cerebral Cortical Thinning	Associate	39374256
Cholestasis Intrahepatic	Stimulate	20551429
Choriocarcinoma	Associate	1531036
Chromosome 5q Deletion Syndrome	Associate	35732408
Cognition Disorders	Associate	31093799, 33838643, 34633276, 34652888, 35119108, 36947995, 37434390
Colorectal Neoplasms	Associate	28675510, 32304779, 34256095, 34830445, 38432446, 39317456
Corticobasal Degeneration	Associate	22197934, 23649896
Crisponi syndrome	Associate	39182279
Dementia	Associate	23649896, 25935893, 30729751, 30917570, 34633276, 35532660, 37407261
Dementia Vascular	Associate	39374256
Demyelinating Diseases	Associate	39217398
Depressive Disorder	Associate	24428556
Diabetic Nephropathies	Associate	30988245
Diabetic Retinopathy	Associate	37773794
Diarrhea	Associate	37904379
Disease	Associate	35443852
Drug Related Side Effects and Adverse Reactions	Associate	30732646
Dyskinesias	Associate	31520500
Edema	Associate	24428556
Endometrial Neoplasms	Associate	2663797, 30816518, 8605095
Endometriosis	Associate	22365076, 38227801
Epidermolysis bullosa simplex Ogna type	Associate	28675510
Erdheim Chester Disease	Associate	34978715
Fibrosarcoma	Associate	3532121
Frontotemporal Dementia	Associate	33737586
Gastritis	Associate	37904379
Genetic Diseases Inborn	Associate	28025469
Giant Cell Tumor of Tendon Sheath	Associate	26222558, 27041409, 35443852, 36502356
Glioblastoma	Associate	32687679, 34562087
Glioma	Associate	23577178, 35985661
Glomerulonephritis IGA	Associate	34861820, 36978098
Glomerulonephritis Membranous	Associate	37876929
Heart Diseases	Associate	22197934, 37407261
Hemiplegia	Associate	24930661
Hereditary Breast and Ovarian Cancer Syndrome	Associate	15637141
Hereditary Diffuse Leukoencephalopathy with Spheroids	Associate	22197934, 22843259, 23411710, 23649896, 23787135, 23816250, 24336230, 24428556, 24930661, 25311247, 25935893, 25975230, 26141177, 26141825, 27190017 View all (24 more)
Hirschsprung Disease	Associate	23527089
Histiocytosis	Associate	31768065
Histiocytosis Langerhans Cell	Stimulate	1771606
Histiocytosis Langerhans Cell	Associate	32238382
Hodgkin Disease	Associate	22955918, 30546079
Hydatidiform Mole	Associate	8463412
Hydrocephalus	Associate	31093799
Hyperekplexia	Associate	7763205
Hypokinesia	Associate	23787135, 37434390
Hypoxia Brain	Associate	39317456
Immunoglobulin G4 Related Disease	Associate	39182279
Infections	Stimulate	8394446
Inflammation	Associate	11092615, 15637141, 20574656, 23527089, 24722292, 27091721, 32787365, 37249291, 37904379, 38227801, 39217398, 40489880
Inflammatory Bowel Diseases	Associate	27898738
Inflammatory Breast Neoplasms	Associate	29930294
Intracranial Embolism	Associate	29509319
Intrauterine Growth Retardation Metaphyseal Dysplasia Adrenal Hypoplasia Congenita And Genital Anomalies	Associate	34791569
Leukemia	Associate	2832442, 2910363, 2970873
Leukemia Lymphocytic Chronic B Cell	Associate	27334834, 28570130, 8286829
Leukemia Lymphoma Adult T Cell	Associate	30541986
Leukemia Myeloid	Associate	1531307, 1829836, 2465043
Leukemia Myeloid Acute	Associate	1825181, 22399609, 26375984, 2832442, 2910363, 2970873, 30425048, 33560403, 34568834, 36914885, 39251712
Leukemia Myelomonocytic Chronic	Associate	31028249
Leukodystrophy Metachromatic	Associate	23649896, 25935893, 25975230, 34633276, 37434390
Leukoencephalopathies	Associate	27190017, 27633805, 27680516, 28334938, 28921817, 29509319, 30115677, 31520500, 31775912, 32430064, 33783963, 33838643, 34633276, 34652888, 35119108 View all (5 more)
Lung Neoplasms	Stimulate	1390197
Lung Neoplasms	Associate	25144241
Lymphoma	Associate	28784769, 30541986
Lymphoma Large Cell Anaplastic	Associate	19321746
Lymphoma Non Hodgkin	Associate	23816250
Lymphoma T Cell	Associate	37160920
Mastocytosis Systemic	Associate	24828813
Maturity Onset Diabetes of the Young Type 8 with Exocrine Dysfunction	Associate	35498402
Measles	Associate	11854931
Medulloblastoma	Associate	25344580
Melanoma	Associate	1390197
Memory Disorders	Associate	26141825
Mental Disorders	Associate	23816250, 24428556, 25935893, 30729751, 34652888, 37434390
Mesothelioma	Associate	24722292
Mesothelioma Malignant	Associate	24722292, 32581053
Migraine Disorders	Inhibit	27091721
Motor Disorders	Associate	31093799, 37407261
Mouth Diseases	Associate	38227801
Multiple Myeloma	Associate	30732646
Multiple Pterygium Syndrome Autosomal Dominant	Associate	33350588
Multiple Sclerosis	Associate	33766068, 37407261
Multiple Sclerosis Chronic Progressive	Associate	25311247
Muscle Hypotonia	Associate	26141825
Muscle Spasticity	Associate	37434390
Muscle Weakness	Associate	25311247
Muscular Dystrophy Adult Onset with Leukoencephalopathy	Associate	36947995
Myotonic Disorders	Stimulate	18163995
Nasal Polyps	Associate	36466903
Nasopharyngeal Carcinoma	Associate	26743272
Neoplasm Metastasis	Associate	1390197, 29930294, 34021032, 37676642
Neoplasm Metastasis	Stimulate	20551429, 32304779
Neoplasms	Associate	1390197, 15117969, 16357167, 22957741, 24498382, 26553456, 26743272, 26887047, 27231203, 28057171, 29323162, 31431617, 31768065, 32175921, 32304779 View all (11 more)
Neoplasms	Stimulate	34256095
Neoplasms Adipose Tissue	Associate	28566469
Neoplasms Germ Cell and Embryonal	Associate	25085632
Neoplastic Syndromes Hereditary	Associate	31885218
Nerve Degeneration	Associate	30917570
Neural Tube Defects	Associate	1829836
Neurodegenerative Diseases	Associate	31182772, 35119108, 35752680, 36947995, 39182279
Neuroendocrine Tumors	Associate	36461910
Neurologic Manifestations	Associate	25311247, 27190017
Osteoarthritis	Associate	33021861, 37904379
Osteoporosis	Associate	33021861, 36430397, 37904379
Osteosarcoma	Associate	35340229
Ovarian Neoplasms	Associate	22909061, 9376277
Pancreatic Neoplasms	Associate	28099906
Pancreatic Neoplasms	Stimulate	33062039
Paraplegia	Associate	23649896
Parkinson Disease	Associate	23787135, 25556233
Parkinson Disease	Stimulate	37108258
Parkinson Disease Secondary	Associate	23787135, 31520500, 35503975
Parkinsonian Disorders	Associate	35887121
Personality Disorders	Associate	26887047
Pigmentation Disorders	Associate	23408870, 27680516, 28921817, 29509319, 29980109, 33350588, 33783963
Plaque Atherosclerotic	Associate	1557388
Pleural Diseases	Associate	36161776
Precursor Cell Lymphoblastic Leukemia Lymphoma	Associate	28408464
Precursor T Cell Lymphoblastic Leukemia Lymphoma	Associate	1390197
Primary Myelofibrosis	Associate	12580961
Prostatic Neoplasms	Associate	26887047
Pulmonary Alveolar Proteinosis	Inhibit	12896880
Respiratory Distress Syndrome	Associate	37443002
Reticular dysgenesis	Associate	34908483
Retinal Drusen	Associate	34908483
Schizophrenia	Inhibit	30630651
Seizures	Associate	31093799, 37407261, 37434390
Shock Septic	Associate	33863396
Sick Sinus Syndrome	Associate	34004232
Soft Tissue Neoplasms	Associate	19846920
Spheroid body myopathy	Associate	27190017, 36947995
Spinal Cord Diseases	Associate	37407261
Spinocerebellar Ataxias	Associate	26141825
Status Asthmaticus	Associate	20574656, 37249291
Stomach Neoplasms	Associate	38425243
Stroke	Associate	23649896, 29509319
Synovitis Pigmented Villonodular	Associate	25854167, 30594158
Testicular Germ Cell Tumor	Associate	36502356
Triple Negative Breast Neoplasms	Associate	27472710
Uterine Cervical Neoplasms	Associate	36110252
Vasculitis Central Nervous System	Associate	25935893
Vision Disorders	Associate	37434390
Whooping Cough	Associate	18816412

CSF1R (colony stimulating factor 1 receptor)