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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	708
Gene name	Complement C1q binding protein
Gene symbol	C1QBP
Synonyms (NCBI Gene)	COXPD33GC1QBPHABP1SF2AP32SF2p32gC1Q-RgC1qRp32
Chromosome	17
Chromosome location	17p13.2
Summary	The human complement subcomponent C1q associates with C1r and C1s in order to yield the first component of the serum complement system. The protein encoded by this gene is known to bind to the globular heads of C1q molecules and inhibit C1 activation. Thi

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SNP ID	Visualize variation	Clinical significance	Consequence
rs748497469	C>G	Pathogenic	Coding sequence variant, missense variant
rs755568057	AAT>-	Pathogenic	Coding sequence variant, inframe deletion

Show/Hide all (71)

miRTarBase ID	miRNA	Experiments	Reference
MIRT001752	hsa-miR-375	Microarray	20215506
MIRT001752	hsa-miR-375	Reporter assay	15806104
MIRT049921	hsa-miR-30a-3p	CLASH	23622248
MIRT048001	hsa-miR-30c-5p	CLASH	23622248
MIRT046146	hsa-miR-30b-5p	CLASH	23622248
MIRT044216	hsa-miR-301a-3p	CLASH	23622248
MIRT043977	hsa-miR-378a-5p	CLASH	23622248
MIRT041959	hsa-miR-484	CLASH	23622248
MIRT038789	hsa-miR-93-3p	CLASH	23622248
MIRT728117	hsa-miR-193a-3p	HITS-CLIP	22473208
MIRT728116	hsa-miR-193b-3p	HITS-CLIP	22473208
MIRT842141	hsa-miR-1265	CLIP-seq
MIRT842142	hsa-miR-193b	CLIP-seq
MIRT842143	hsa-miR-2392	CLIP-seq
MIRT842144	hsa-miR-3145-3p	CLIP-seq
MIRT842145	hsa-miR-3159	CLIP-seq
MIRT842146	hsa-miR-330-3p	CLIP-seq
MIRT842147	hsa-miR-361-3p	CLIP-seq
MIRT842148	hsa-miR-3679-3p	CLIP-seq
MIRT842149	hsa-miR-3682-3p	CLIP-seq
MIRT842150	hsa-miR-3926	CLIP-seq
MIRT842151	hsa-miR-4420	CLIP-seq
MIRT842152	hsa-miR-4446-5p	CLIP-seq
MIRT842153	hsa-miR-4659a-5p	CLIP-seq
MIRT842154	hsa-miR-4659b-5p	CLIP-seq
MIRT842155	hsa-miR-4722-3p	CLIP-seq
MIRT842156	hsa-miR-4738-3p	CLIP-seq
MIRT842157	hsa-miR-4763-5p	CLIP-seq
MIRT842158	hsa-miR-4769-3p	CLIP-seq
MIRT842159	hsa-miR-548s	CLIP-seq
MIRT842160	hsa-miR-596	CLIP-seq
MIRT842161	hsa-miR-607	CLIP-seq
MIRT842162	hsa-miR-651	CLIP-seq
MIRT842163	hsa-miR-759	CLIP-seq
MIRT842141	hsa-miR-1265	CLIP-seq
MIRT842142	hsa-miR-193b	CLIP-seq
MIRT842143	hsa-miR-2392	CLIP-seq
MIRT842149	hsa-miR-3682-3p	CLIP-seq
MIRT842150	hsa-miR-3926	CLIP-seq
MIRT842151	hsa-miR-4420	CLIP-seq
MIRT842153	hsa-miR-4659a-5p	CLIP-seq
MIRT842154	hsa-miR-4659b-5p	CLIP-seq
MIRT842155	hsa-miR-4722-3p	CLIP-seq
MIRT842156	hsa-miR-4738-3p	CLIP-seq
MIRT842157	hsa-miR-4763-5p	CLIP-seq
MIRT842158	hsa-miR-4769-3p	CLIP-seq
MIRT842159	hsa-miR-548s	CLIP-seq
MIRT842160	hsa-miR-596	CLIP-seq
MIRT842162	hsa-miR-651	CLIP-seq
MIRT842142	hsa-miR-193b	CLIP-seq
MIRT842145	hsa-miR-3159	CLIP-seq
MIRT842146	hsa-miR-330-3p	CLIP-seq
MIRT842150	hsa-miR-3926	CLIP-seq
MIRT842151	hsa-miR-4420	CLIP-seq
MIRT842153	hsa-miR-4659a-5p	CLIP-seq
MIRT842154	hsa-miR-4659b-5p	CLIP-seq
MIRT842155	hsa-miR-4722-3p	CLIP-seq
MIRT842156	hsa-miR-4738-3p	CLIP-seq
MIRT842157	hsa-miR-4763-5p	CLIP-seq
MIRT842158	hsa-miR-4769-3p	CLIP-seq
MIRT842159	hsa-miR-548s	CLIP-seq
MIRT842160	hsa-miR-596	CLIP-seq
MIRT842161	hsa-miR-607	CLIP-seq
MIRT842163	hsa-miR-759	CLIP-seq
MIRT2385125	hsa-miR-135a	CLIP-seq
MIRT2385126	hsa-miR-135b	CLIP-seq
MIRT842142	hsa-miR-193b	CLIP-seq
MIRT2385127	hsa-miR-3119	CLIP-seq
MIRT2385128	hsa-miR-4291	CLIP-seq
MIRT842151	hsa-miR-4420	CLIP-seq
MIRT842156	hsa-miR-4738-3p	CLIP-seq

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Transcription factor	Regulation	Reference
SP1	Unknown	11278463

Show/Hide all (80)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IDA	15243141
GO:0000724	Process	Double-strand break repair via homologous recombination	IDA	29670289, 30612738
GO:0000957	Process	Mitochondrial RNA catabolic process	IDA	19509288
GO:0000957	Process	Mitochondrial RNA catabolic process	IDA	39019044
GO:0001849	Function	Complement component C1q complex binding	IBA
GO:0001849	Function	Complement component C1q complex binding	IDA	8195709
GO:0001849	Function	Complement component C1q complex binding	IEA
GO:0002250	Process	Adaptive immune response	IEA
GO:0002376	Process	Immune system process	IEA
GO:0003714	Function	Transcription corepressor activity	IBA
GO:0003714	Function	Transcription corepressor activity	IDA	15243141
GO:0003729	Function	MRNA binding	ISS
GO:0004857	Function	Enzyme inhibitor activity	IDA	31353207
GO:0005080	Function	Protein kinase C binding	IEA
GO:0005515	Function	Protein binding	IPI	8710908, 8900153, 10831594, 11086025, 12034482, 15031724, 16721827, 17486078, 18191643, 18676636, 19164550, 21653829, 22118625, 22238231, 23986595, 24955142, 25497084, 25852190, 26184334, 26816005, 27499296, 28018340, 28514442, 28565870, 31980649, 32296183, 32958672, 33961781, 34804
GO:0005540	Function	Hyaluronic acid binding	IDA	8567680
GO:0005576	Component	Extracellular region	IEA
GO:0005615	Component	Extracellular space	IEA
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	15243141
GO:0005634	Component	Nucleus	IEA
GO:0005730	Component	Nucleolus	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	ISS
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IDA	11083468, 19164550
GO:0005739	Component	Mitochondrion	IEA
GO:0005759	Component	Mitochondrial matrix	IDA	9305894, 39019044
GO:0005759	Component	Mitochondrial matrix	IEA
GO:0005759	Component	Mitochondrial matrix	TAS
GO:0005829	Component	Cytosol	IDA	15243141
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS	8195709
GO:0006397	Process	MRNA processing	IEA
GO:0006915	Process	Apoptotic process	IEA
GO:0006955	Process	Immune response	TAS	8195709
GO:0006958	Process	Complement activation, classical pathway	IEA
GO:0006974	Process	DNA damage response	IEA
GO:0008134	Function	Transcription factor binding	IDA	15243141
GO:0008380	Process	RNA splicing	IEA
GO:0009986	Component	Cell surface	IBA
GO:0009986	Component	Cell surface	IDA	17881511
GO:0016020	Component	Membrane	IDA	8662673, 11290596
GO:0016020	Component	Membrane	IEA
GO:0030449	Process	Regulation of complement activation	IBA
GO:0030449	Process	Regulation of complement activation	IDA	8195709
GO:0030984	Function	Kininogen binding	IBA
GO:0030984	Function	Kininogen binding	IDA	8662673
GO:0031690	Function	Adrenergic receptor binding	IEA
GO:0031690	Function	Adrenergic receptor binding	ISS
GO:0032689	Process	Negative regulation of type II interferon production	IDA	17881511
GO:0032695	Process	Negative regulation of interleukin-12 production	IDA	16177118, 17881511
GO:0039534	Process	Negative regulation of MDA-5 signaling pathway	IDA	19164550
GO:0039536	Process	Negative regulation of RIG-I signaling pathway	IDA	19164550
GO:0042254	Process	Ribosome biogenesis	IEA
GO:0042256	Process	Cytosolic ribosome assembly	IBA
GO:0042256	Process	Cytosolic ribosome assembly	IMP	21536856
GO:0043065	Process	Positive regulation of apoptotic process	IMP	15031724
GO:0043491	Process	Phosphatidylinositol 3-kinase/protein kinase B signal transduction	IMP	16177118
GO:0045087	Process	Innate immune response	IEA
GO:0045785	Process	Positive regulation of cell adhesion	IMP	20810993
GO:0048025	Process	Negative regulation of mRNA splicing, via spliceosome	IBA
GO:0048025	Process	Negative regulation of mRNA splicing, via spliceosome	IDA	10022843
GO:0048786	Component	Presynaptic active zone	IEA
GO:0050687	Process	Negative regulation of defense response to virus	IMP	19164550
GO:0051897	Process	Positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	IMP	16177118
GO:0060703	Function	Deoxyribonuclease inhibitor activity	IDA	31353207
GO:0062153	Function	C5-methylcytidine-containing RNA reader activity	IDA	39019044
GO:0070131	Process	Positive regulation of mitochondrial translation	ISS
GO:0090023	Process	Positive regulation of neutrophil chemotaxis	IDA	9461517
GO:0097177	Function	Mitochondrial ribosome binding	ISS
GO:0098978	Component	Glutamatergic synapse	IEA
GO:0098982	Component	GABA-ergic synapse	IEA
GO:1900026	Process	Positive regulation of substrate adhesion-dependent cell spreading	IMP	11859136
GO:1901165	Process	Positive regulation of trophoblast cell migration	IMP	20810993
GO:2000042	Process	Negative regulation of double-strand break repair via homologous recombination	IDA	31353207
GO:2000510	Process	Positive regulation of dendritic cell chemotaxis	IMP	16140380

MIM	HGNC	e!Ensembl
601269	1243	ENSG00000108561

Q07021

Protein name

Complement component 1 Q subcomponent-binding protein, mitochondrial (ASF/SF2-associated protein p32) (Glycoprotein gC1qBP) (C1qBP) (Hyaluronan-binding protein 1) (Mitochondrial matrix protein p32) (gC1q-R protein) (p33) (SF2AP32)

Protein function

Multifunctional and multicompartmental protein involved in inflammation and infection processes, ribosome biogenesis, protein synthesis in mitochondria, regulation of apoptosis, transcriptional regulation and pre-mRNA splicing (PubMed:10022843,

PDB

1P32 , 3RPX , 6SZW , 7TE3

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF02330	MAM33	86 → 279	Mitochondrial glycoprotein	Domain

Tissue specificity

TISSUE SPECIFICITY: Expressed on cell surface of peripheral blood cells (at protein level); Surface expression is reported for macrophages and monocyte-derived dendritic cells. {ECO:0000269|PubMed:12574814, ECO:0000269|PubMed:8662673}.

Sequence

MLPLLRCVPRVLGSSVAGLRAAAPASPFRQLLQPAPRLCTRPFGLLSVRAGSERRPGLLR
PRGPCACGCGCGSLHTDGDKAFVDFLSDEIKEERKIQKHKTLPKMSGGWELELNGTEAKL
VRKVAGEKITVTFNINNSIPPTFDGEEEPSQGQKVEEQEPELTSTPNFVVEVIKNDDGKK
ALVLDCHYPEDEVGQEDEAESDIFSIREVSFQSTGESEWKDTNYTLNTDSLDWALYDHLM
DFLADRGVDNTFADELVELSTALEHQEYITFLEDLKSFVKSQ

Sequence length

282

Interactions

View interactions

	Reactome
			Apoptotic factor-mediated response Intrinsic Pathway of Fibrin Clot Formation Defective Intrinsic Pathway for Apoptosis Due to p14ARF Loss of Function

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Combined oxidative phosphorylation deficiency 33	Likely pathogenic; Pathogenic	rs767427194, rs1555532483, rs1394499137, rs1555532484	RCV000509576 RCV000509580 RCV000509570 RCV000509577	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Mitochondrial disease	Likely pathogenic; Pathogenic	rs767427194	RCV005356037	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (12)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
BREAST NEOPLASMS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
C1QBP-related disorder	Uncertain significance; Likely benign; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MITOCHONDRIAL DISEASES	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (113)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Adenocarcinoma	Adenocarcinoma	BEFREE	31681580		★★★★★ ★☆☆☆☆ Found in Text Mining only
Amyloidosis	Amyloidosis	BEFREE	31234498		★★★★★ ★☆☆☆☆ Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	30389300		★★★★★ ★☆☆☆☆ Found in Text Mining only
Arrhythmias Cardiac	Cardiac arrhythmias	Pubtator	34003581	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	15234555, 16893067		★★★★★ ★☆☆☆☆ Found in Text Mining only
Arthritis Psoriatic	Psoriatic arthritis	Pubtator	3190747	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	3190747	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Astigmatism	Astigmatism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	15234555, 16893067		★★★★★ ★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	Pubtator	36705413	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	30428349		★★★★★ ★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Blood Coagulation Disorders	Blood coagulation disorder	Pubtator	36705413	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	15365563, 19565630, 23924515, 28108744, 31353207		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	CTD_human_DG	21466612		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	25573962, 28108744, 36674861	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Neoplasms	Breast neoplasm	Pubtator	28108744	Stimulate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carcinogenesis	Carcinogenesis	Pubtator	33472357	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	15365563		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	40429658	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	21536672, 28979670		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Ovarian Epithelial	Epithelial ovarian carcinoma	Pubtator	23929393	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	35693733	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	23268996	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	23651874	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinomatosis of peritoneal cavity	Peritoneal Carcinomatosis	BEFREE	28603028		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	BEFREE	28498888		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	Pubtator	34003581, 34419324	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Ischemic stroke	Pubtator	39290696	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	21725590, 28039537		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervix carcinoma	Cervix carcinoma	BEFREE	21725590, 28039537		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic progressive external ophthalmoplegia	Progressive External Ophthalmoplegia	BEFREE	28942965		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic progressive external ophthalmoplegia	Progressive External Ophthalmoplegia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	28565870		★★★★★ ★☆☆☆☆ Found in Text Mining only
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 33	Combined Oxidative Phosphorylation Deficiency	UNIPROT_DG	28942965		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 33	Combined Oxidative Phosphorylation Deficiency	GENOMICS_ENGLAND_DG	28942965		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 33	Combined Oxidative Phosphorylation Deficiency	CLINVAR_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Congenital Abnormalities	Congenital abnormalities	Pubtator	23268996	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	28107702, 28428626		★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	10463820		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	29465311		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	29465311		★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	25355598		★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	25355598	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Fibroadenoma	Fibroadenoma	BEFREE	15365563		★★★★★ ★☆☆☆☆ Found in Text Mining only
Gilles de la Tourette syndrome	Tourette Syndrome	BEFREE	27956122		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glaucoma, Primary Open Angle	Glaucoma	BEFREE	22960332		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	29047383		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary Breast and Ovarian Cancer Syndrome	Hereditary breast and ovarian cancer syndrome	Pubtator	36674861	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypercholesterolemia	Hypercholesterolemia	Pubtator	33766078	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Left Ventricular Hypertrophy	Left Ventricular Hypertrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	33472357, 37798266	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukoencephalopathy	Leukoencephalopathy	BEFREE	29123152		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	24016853		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	23929393, 25355598	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	Pubtator	24746816	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma	Lymphoma	BEFREE	30991713		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant neoplasm of brain	Brain Neoplasms	BEFREE	25528767		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	15365563, 19565630, 23924515, 23959073, 28108744, 31353207		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	CTD_human_DG	21466612		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of endometrium	Endometrial Cancer	BEFREE	25355598		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	28979670		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	28608366		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	25894376		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	30991713		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	21536672, 23378602, 23924515, 23959073, 25044096, 25794640, 28427307, 28608366, 29047383, 29165044, 29535843, 30389300, 30660694, 30991713, 31744753		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	21725590, 28039537		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	28565870		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mammary Carcinoma, Human	Marfan Syndrome	CTD_human_DG	21466612		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	CTD_human_DG	21466612		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	29721153		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms, Human	Mammary Neoplasms	CTD_human_DG	21466612		★★★★★ ★☆☆☆☆ Found in Text Mining only
Meningioma	Meningioma	BEFREE	10326867		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mesothelioma Malignant	Mesothelioma	Pubtator	37334363	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	23268996	Inhibit	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mitochondrial Diseases	Mitochondrial disease	Pubtator	24746816, 24874554	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mitochondrial Diseases	Mitochondrial disease	Pubtator	25288439, 32878596	Stimulate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mitochondrial Diseases	Mitochondrial Diseases	BEFREE	28942965, 30459337		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Multiple Myeloma	Multiple myeloma	Pubtator	32760394	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy, Facioscapulohumeral	Facioscapulohumeral Muscular Dystrophy	BEFREE	31844661		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	BEFREE	28942965		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	12835293, 19565630, 25044096, 25061661, 25528767, 2555151, 25794640, 27634372, 28178415, 28603028, 29165044, 29721153, 30905205, 31027511, 31353207, 31744753 View all (1 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	9516838		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	22960332	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	28720899, 29465311		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ophthalmoplegia Chronic Progressive External	Progressive external ophthalmoplegia	Pubtator	34419324	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	28608366		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Ductal Adenocarcinoma	Pancreatic adenocarcinoma	BEFREE	30389300		★★★★★ ★☆☆☆☆ Found in Text Mining only
Peritonitis	Peritonitis	Pubtator	23929393	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	21205079	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	28107702, 28428626		★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal Diseases	BEFREE	18997086		★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis Pigmentosa	BEFREE	31648555		★★★★★ ★☆☆☆☆ Found in Text Mining only
Severe Combined Immunodeficiency	Severe combined immunodeficiency disease	BEFREE	23924515		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	25288439		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	25894376		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stroke	Stroke	Pubtator	39290696	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Thrombocytopenia	Thrombocytopenia	Pubtator	33472357	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Thrombophilia	Thrombophilia	BEFREE	25044096		★★★★★ ★☆☆☆☆ Found in Text Mining only
Thrombosis	Thrombosis	Pubtator	36705413	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Timothy syndrome	Timothy Syndrome	BEFREE	27956122		★★★★★ ★☆☆☆☆ Found in Text Mining only
Tricuspid Valve Stenosis	Tricuspid Valve Stenosis	BEFREE	27956122		★★★★★ ★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	25794640, 29721153		★★★★★ ★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	25794640, 36674861	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Tuberous Sclerosis	Tuberous Sclerosis	BEFREE	27956122		★★★★★ ★☆☆☆☆ Found in Text Mining only
Urinary Bladder Diseases	Urinary Bladder Diseases	BEFREE	24083701		★★★★★ ★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	24083701	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Vascular System Injuries	Vascular system injury	Pubtator	19828637	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Vasculitis	Vasculitis	BEFREE	16893067		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ventricular Fibrillation	Ventricular fibrillation	Pubtator	34003581	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

C1QBP (complement C1q binding protein)