C4A (complement C4A (Chido/Rodgers blood group))

Gene

• Entrez ID: 720
• Gene name: Complement C4A (Chido/Rodgers blood group)
• Gene symbol: C4A
• Synonyms (NCBI Gene): C4, C4A2, C4A3, C4A4, C4A6, C4AD, C4S, CO4, CPAMD2, RG
• Chromosome: 6
• Chromosome location: 6p21.33
• Summary: This gene encodes the acidic form of complement factor 4, part of the classical activation pathway. The protein is expressed as a single chain precursor which is proteolytically cleaved into a trimer of alpha, beta, and gamma chains prior to secretion. Th

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT2493108	hsa-miR-1206	CLIP-seq
MIRT2493109	hsa-miR-146b-3p	CLIP-seq
MIRT2493110	hsa-miR-1915	CLIP-seq
MIRT2493111	hsa-miR-2115	CLIP-seq
MIRT2493112	hsa-miR-3117-5p	CLIP-seq
MIRT2493113	hsa-miR-3173-5p	CLIP-seq
MIRT2493114	hsa-miR-4267	CLIP-seq
MIRT2493115	hsa-miR-4281	CLIP-seq
MIRT2493116	hsa-miR-433	CLIP-seq
MIRT2493117	hsa-miR-4517	CLIP-seq
MIRT2493118	hsa-miR-4519	CLIP-seq
MIRT2493119	hsa-miR-4726-3p	CLIP-seq
MIRT2493120	hsa-miR-516a-3p	CLIP-seq
MIRT2493121	hsa-miR-520f	CLIP-seq
MIRT2493122	hsa-miR-874	CLIP-seq
MIRT2493123	hsa-miR-889	CLIP-seq
MIRT2493108	hsa-miR-1206	CLIP-seq
MIRT2493111	hsa-miR-2115	CLIP-seq
MIRT2493114	hsa-miR-4267	CLIP-seq
MIRT2493116	hsa-miR-433	CLIP-seq
MIRT2493118	hsa-miR-4519	CLIP-seq
MIRT2493120	hsa-miR-516a-3p	CLIP-seq
MIRT2493121	hsa-miR-520f	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
SP1	Unknown	9574539

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001848	Function	Complement binding	IEA
GO:0001849	Function	Complement component C1q complex binding	IDA	2395880
GO:0001867	Process	Complement activation, lectin pathway	IDA	22691502
GO:0001867	Process	Complement activation, lectin pathway	IDA	11527969, 18204047, 22691502, 22949645
GO:0001905	Process	Activation of membrane attack complex	IDA	18204047
GO:0002376	Process	Immune system process	IEA
GO:0003823	Function	Antigen binding	IDA	8538770
GO:0004866	Function	Endopeptidase inhibitor activity	IEA
GO:0005515	Function	Protein binding	IPI	28514442, 33961781
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	TAS
GO:0005601	Component	Classical-complement-pathway C3/C5 convertase complex	IDA	12878586, 14561755, 18204047, 27252379
GO:0005615	Component	Extracellular space	HDA	16502470
GO:0005615	Component	Extracellular space	IBA
GO:0005615	Component	Extracellular space	IDA	25645918
GO:0005615	Component	Extracellular space	IEA
GO:0005788	Component	Endoplasmic reticulum lumen	TAS
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0006954	Process	Inflammatory response	IEA
GO:0006956	Process	Complement activation	IBA
GO:0006956	Process	Complement activation	IDA	26841934, 30111885, 37852260
GO:0006956	Process	Complement activation	IDA	8538770
GO:0006956	Process	Complement activation	IEA
GO:0006956	Process	Complement activation	IGI	19302245
GO:0006958	Process	Complement activation, classical pathway	IDA	3897448, 6906228
GO:0006958	Process	Complement activation, classical pathway	IDA	9422791, 11527969, 12878586, 16169853, 18204047, 22949645, 31147461, 32769120, 35428691
GO:0006958	Process	Complement activation, classical pathway	IEA
GO:0008228	Process	Opsonization	IDA	3897448
GO:0008228	Process	Opsonization	IDA	8538770, 31147461
GO:0009986	Component	Cell surface	IEA
GO:0030424	Component	Axon	IDA	26814963
GO:0030424	Component	Axon	IEA
GO:0030425	Component	Dendrite	IDA	26814963
GO:0030425	Component	Dendrite	IEA
GO:0031640	Process	Killing of cells of another organism	IDA	30552328
GO:0042995	Component	Cell projection	IEA
GO:0043025	Component	Neuronal cell body	IDA	26814963
GO:0045087	Process	Innate immune response	IEA
GO:0045202	Component	Synapse	IDA	26814963
GO:0045202	Component	Synapse	IEA
GO:0051604	Process	Protein maturation	IDA	6906228, 18204047
GO:0070062	Component	Extracellular exosome	HDA	23533145
GO:0072562	Component	Blood microparticle	HDA	22516433
GO:0106139	Component	Symbiont cell surface	IDA	8538770
GO:0160257	Process	Complement activation, GZMK pathway	IDA	39914456
GO:0160257	Process	Complement activation, GZMK pathway	IDA	39914456
GO:2000427	Process	Positive regulation of apoptotic cell clearance	IEA
GO:2000427	Process	Positive regulation of apoptotic cell clearance	IGI	19302245

Other IDs

• MIM: 120810
• HGNC: 1323
• e!Ensembl: ENSG00000244731

Interactions View interactions

Associated diseases

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)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
AUTOSOMAL SYSTEMIC LUPUS ERYTHEMATOSUS	—	Disgenet, Orphanet Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Behcet disease	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BEHCET SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CLASSICAL COMPLEMENT PATHWAY ABNORMALITY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Complement component 4a deficiency	Uncertain significance; Benign	ClinVar CTD, ClinVar, GWAS catalog, HPO CTD, ClinVar, GWAS catalog, HPO CTD, ClinVar, GWAS catalog, HPO	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
GRAVES DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUPUS ERYTHEMATOSUS, SYSTEMIC	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYSTEMIC LUPUS ERYTHEMATOSUS	—	GWAS catalog, Orphanet GWAS catalog, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VITILIGO	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acne	Acne	HPO_DG			★☆☆☆☆ Found in Text Mining only
Adrenal Hyperplasia Congenital	Congenital adrenal hyperplasia	Pubtator	3018042	Associate	★☆☆☆☆ Found in Text Mining only
Age related macular degeneration	Age-related macular degeneration	BEFREE	27090374		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	33869630, 34480088, 36776048	Associate	★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic lateral sclerosis	Pubtator	39278909	Associate	★☆☆☆☆ Found in Text Mining only
Anorexia	Anorexia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Anterior uveitis	Uveitis	BEFREE	3259571		★☆☆☆☆ Found in Text Mining only
Antibody Deficiency Syndrome	Antibody Deficiency Syndrome	CTD_human_DG	8473511		★☆☆☆☆ Found in Text Mining only
Aortic Valve Insufficiency	Aortic Valve Insufficiency	HPO_DG			★☆☆☆☆ Found in Text Mining only
Apraxias	Apraxia	Pubtator	24015209	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	Pubtator	2111123	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Arthritis Juvenile	Juvenile arthritis	Pubtator	3488035	Stimulate	★☆☆☆☆ Found in Text Mining only
Arthritis Psoriatic	Psoriatic arthritis	Pubtator	3866077	Stimulate	★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	2111123	Associate	★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	LHGDN	15039137		★☆☆☆☆ Found in Text Mining only
Autoimmune Chronic Hepatitis	Autoimmune hepatitis	BEFREE	8482459		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	LHGDN	12224044, 19035512		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune disease	Pubtator	12224044, 12226794, 1360552, 16403222, 19135723, 19150565, 2107212, 21857912, 3018042, 34764957	Associate	★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	17911430, 6332753, 7923882		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases of the Nervous System	Autoimmune nervous system disorder	Pubtator	35348614	Associate	★☆☆☆☆ Found in Text Mining only
Autosomal systemic lupus erythematosus	Systemic lupus erythematosus	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
	Behcet Syndrome	Orphanet			★☆☆☆☆ Found in Text Mining only
Behcet Syndrome	Behcet Syndrome	ORPHANET_DG	23918728		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Behcet Syndrome	Behcet disease	Pubtator	23918728	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar disorder	Pubtator	29449061, 38070620	Associate	★☆☆☆☆ Found in Text Mining only
Blindness	Blindness	Pubtator	15294999	Associate	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	37834358	Associate	★☆☆☆☆ Found in Text Mining only
Burkitt Lymphoma	Burkitt`s Lymphoma	BEFREE	23528241		★☆☆☆☆ Found in Text Mining only
Cachexia	Cachexia	Pubtator	27879288	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	25789864	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	19150565, 35955933	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	23302412	Associate	★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	BEFREE	1889146		★☆☆☆☆ Found in Text Mining only
Chronic Kidney Insufficiency	Renal Insufficiency	BEFREE	1889146		★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	LHGDN	15039137		★☆☆☆☆ Found in Text Mining only
Chronic Periodontitis	Periodontitis	LHGDN	17257223		★☆☆☆☆ Found in Text Mining only
Chronic Periodontitis	Periodontitis	Pubtator	33869630	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	32660089	Associate	★☆☆☆☆ Found in Text Mining only
Common Variable Immunodeficiency	Common variable immunodeficiency	Pubtator	1351062, 1672269, 2573059	Associate	★☆☆☆☆ Found in Text Mining only
COMPLEMENT COMPONENT 2 DEFICIENCY	Complement Component Deficiency	BEFREE	1577763		★☆☆☆☆ Found in Text Mining only
Complement Component 4a Deficiency	Complement component deficiency	Pubtator	10859342	Inhibit	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Complement Component 4a Deficiency	Complement Component Deficiency	BEFREE	11033017, 1976809, 2044237, 26814708, 8341140		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Complement Component 4a Deficiency	Complement component deficiency	Pubtator	12133986, 26814708	Associate	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Complement Component 4a Deficiency	Complement Component Deficiency	GENOMICS_ENGLAND_DG	22482068		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Complement Component 4a Deficiency	Complement component deficiency	Pubtator	26493816	Stimulate	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Complement Component 4a Deficiency	Complement Component Deficiency	CTD_human_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Complement deficiency disease	Complement Component Deficiency	GENOMICS_ENGLAND_DG	22482068		★☆☆☆☆ Found in Text Mining only
Complement deficiency disease	Complement Component Deficiency	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency	Congenital adrenal hyperplasia	BEFREE	3007562, 3013005		★☆☆☆☆ Found in Text Mining only
Coronary Stenosis	Coronary stenosis	Pubtator	32327445	Associate	★☆☆☆☆ Found in Text Mining only
Cranial nerve palsies	Cranial Nerve Paralysis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	BEFREE	26398154		★☆☆☆☆ Found in Text Mining only
Cyclic neutropenia	Cyclic Neutropenia	BEFREE	3865894		★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	Pubtator	37834358	Associate	★☆☆☆☆ Found in Text Mining only
Dermatitis	Dermatitis	BEFREE	1545698		★☆☆☆☆ Found in Text Mining only
Dermatomyositis	Dermatomyositis	Pubtator	21804080, 26493816	Associate	★☆☆☆☆ Found in Text Mining only
Dermatomyositis, Childhood Type	Dermatomyositis	BEFREE	1783570		★☆☆☆☆ Found in Text Mining only
Developmental regression	Developmental regression	HPO_DG			★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	15858601		★☆☆☆☆ Found in Text Mining only
Diabetes Gestational	Gestational diabetes	Pubtator	19900030	Inhibit	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	15858601		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	32327445	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 1	Diabetes mellitus, type 1	Pubtator	16403222, 22151770, 34764957, 7923882	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	1682241, 3865895, 6332753		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	3879724		★☆☆☆☆ Found in Text Mining only
Diffuse panbronchiolitis	Diffuse panbronchiolitis	Pubtator	8915693	Associate	★☆☆☆☆ Found in Text Mining only
Encephalitis	Encephalitis	Pubtator	34764957	Associate	★☆☆☆☆ Found in Text Mining only
Encephalitis	Encephalitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Endocarditis	Endocarditis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Eye Diseases	Eye disease	Pubtator	2979624	Associate	★☆☆☆☆ Found in Text Mining only
Fatigue Syndrome Chronic	Fatigue syndrome	Pubtator	19015737	Associate	★☆☆☆☆ Found in Text Mining only
Gangrene	Gangrene	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glomerulonephritis	Glomerulonephritis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glomerulonephritis Membranous	Membranous glomerulonephritis	Pubtator	31707756	Stimulate	★☆☆☆☆ Found in Text Mining only
Graves Disease	Graves disease	Pubtator	21943165	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Graves Disease	Graves Disease	BEFREE	2570594		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Graves Ophthalmopathy	Graves ophthalmopathy	Pubtator	33934566, 36561758	Stimulate	★☆☆☆☆ Found in Text Mining only
Hepatitis Autoimmune	Autoimmune hepatitis	Pubtator	7858109	Associate	★☆☆☆☆ Found in Text Mining only
Hepatitis C	Hepatitis c	Pubtator	25789864	Associate	★☆☆☆☆ Found in Text Mining only
Hepatitis C Chronic	Hepatitis c	Pubtator	22614103	Associate	★☆☆☆☆ Found in Text Mining only
Idiopathic Membranous Glomerulonephritis	Membranous Glomerulonephritis	BEFREE	1360552		★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Idiopathic pulmonary fibrosis	Pubtator	25612003	Associate	★☆☆☆☆ Found in Text Mining only
IgA Deficiency	Selective immunoglobulin a deficiency	Pubtator	2573059	Associate	★☆☆☆☆ Found in Text Mining only
Immune System Diseases	Immune System Diseases	BEFREE	2530015		★☆☆☆☆ Found in Text Mining only
Immunodeficiency due to a classical component pathway complement deficiency	Immunodeficiency	Orphanet			★☆☆☆☆ Found in Text Mining only
Immunoglobulin A deficiency (disorder)	Immunoglobulin A deficiency	BEFREE	2573059		★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	CTD_human_DG	8473511		★☆☆☆☆ Found in Text Mining only
Juvenile arthritis	Arthritis	LHGDN	17921792		★☆☆☆☆ Found in Text Mining only
Keratoconjunctivitis Sicca	Keratoconjunctivitis Sicca	HPO_DG			★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney disease	Pubtator	15294999	Associate	★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver cirrhosis	Pubtator	21590334	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Discoid	Discoid lupus erythematosus	Pubtator	21804080	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	12667215, 1401069, 15294999, 15310011, 16403222, 16439442, 17503323, 18383369, 2029208, 21695597, 21857912, 22076784, 26814708, 2802798, 32499649, 3260957, 3501348, 35315244, 6401549, 7706484	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	29050534	Inhibit	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	ORPHANET_DG	10092831, 12133986, 15998580, 17503323, 22654485, 23914156		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	11033017, 11168010, 1350906, 1401069, 15794202, 1976809, 21695597, 2568334, 30041577, 3499152, 7706484, 7911834, 8341140, 8343187		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lupus Erythematosus, Systemic	Lupus Erythematosus	LHGDN	16893076, 17503323, 19035512		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lupus Erythematosus, Systemic	Lupus Erythematosus	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma	Lymphoma	Pubtator	29928053	Associate	★☆☆☆☆ Found in Text Mining only
Macular Degeneration	Macular degeneration	Pubtator	27090374	Associate	★☆☆☆☆ Found in Text Mining only
Malabsorption Syndrome	Malabsorption Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Migraine Disorders	Migraine	HPO_DG			★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple sclerosis	Pubtator	22354735	Stimulate	★☆☆☆☆ Found in Text Mining only
Myasthenia Gravis	Myasthenia Gravis	BEFREE	1352699		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial infarction	Pubtator	16403222	Associate	★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	HPO_DG			★☆☆☆☆ Found in Text Mining only
Myositis	Myositis	Pubtator	36171069	Stimulate	★☆☆☆☆ Found in Text Mining only
Myositis	Myositis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Myositis Inclusion Body	Myositis	Pubtator	7923882	Associate	★☆☆☆☆ Found in Text Mining only
Oral Ulcer	Oral Ulcer	HPO_DG			★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	2553583	Associate	★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	33223503	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatitis	Pancreatitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	6538270		★☆☆☆☆ Found in Text Mining only
Pericarditis	Pericarditis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Periodontitis	Periodontitis	Pubtator	33869630	Associate	★☆☆☆☆ Found in Text Mining only
Peripheral Arterial Disease	Peripheral arterial disease	Pubtator	39649955	Associate	★☆☆☆☆ Found in Text Mining only
Pleural effusion disorder	Pleural effusion	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pleurisy	Pleuritis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Polyendocrinopathies, Autoimmune	Autoimmune Polyendocrinopathy	BEFREE	8823688		★☆☆☆☆ Found in Text Mining only
Primary biliary cirrhosis	Biliary Cirrhosis	BEFREE	3496684, 7927254		★☆☆☆☆ Found in Text Mining only
Prostatic Hyperplasia	Prostatic hyperplasia	Pubtator	29695737, 39367121	Associate	★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	29695737	Associate	★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	LHGDN	11803045		★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	BEFREE	1929549, 2613261		★☆☆☆☆ Found in Text Mining only
Psychotic Disorders	Psychotic disorders	Pubtator	29449061, 38070620	Associate	★☆☆☆☆ Found in Text Mining only
Recurrent aphthous ulcer	Aphthous Ulcer	HPO_DG			★☆☆☆☆ Found in Text Mining only
Renal glomerular disease	Renal Glomerular Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Renal Insufficiency	Renal Insufficiency	HPO_DG			★☆☆☆☆ Found in Text Mining only
Restless Legs Syndrome	Willis-ekbom disease	Pubtator	30244532	Associate	★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal Diseases	HPO_DG			★☆☆☆☆ Found in Text Mining only
Retrobulbar Neuritis	Retrobulbar Neuritis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Rheumatic Heart Disease	Rheumatic Heart Disease	BEFREE	7777829		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	1563983, 2111123, 2530015, 2567598, 2573586, 2711369		★☆☆☆☆ Found in Text Mining only
Sarcoidosis	Sarcoidosis	Pubtator	29928053	Associate	★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	29249827, 30026462		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	Pubtator	29249827, 29449061, 36882872, 38070620	Associate	★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	Pubtator	30419947, 32499649, 33632634	Stimulate	★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	Pubtator	36482464	Inhibit	★☆☆☆☆ Found in Text Mining only
Sjogren's Syndrome	Sjogren syndrome	Pubtator	32499649	Associate	★☆☆☆☆ Found in Text Mining only
Supranuclear Palsy Progressive	Progressive supranuclear palsy	Pubtator	39251599	Associate	★☆☆☆☆ Found in Text Mining only
Systemic lupus erythematosus	Systemic lupus erythematosus	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYSTEMIC LUPUS ERYTHEMATOSUS 16	Systemic lupus erythematosus	ORPHANET_DG	15032584		★☆☆☆☆ Found in Text Mining only
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	29549708, 34803909	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	34803909	Inhibit	★☆☆☆☆ Found in Text Mining only
Trichorhinophalangeal Syndrome Type I	Trichorhinophalangeal syndrome	Pubtator	2802798	Associate	★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	BEFREE	26398154		★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	40283026	Associate	★☆☆☆☆ Found in Text Mining only
Vasculitis	Vasculitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Vitiligo	Vitiligo	Pubtator	21943165	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations