NLRP1 (NLR family pyrin domain containing 1)

Gene

• Entrez ID: 22861
• Gene name: NLR family pyrin domain containing 1
• Gene symbol: NLRP1
• Synonyms (NCBI Gene): AIADK, CARD7, CIDED, CLR17.1, DEFCAP, DEFCAP-L/S, JRRP, MSPC, NAC, NALP1, PP1044, SLEV1, VAMAS1
• Chromosome: 17
• Chromosome location: 17p13.2
• Summary: This gene encodes a member of the Ced-4 family of apoptosis proteins. Ced-family members contain a caspase recruitment domain (CARD) and are known to be key mediators of programmed cell death. The encoded protein contains a distinct N-terminal pyrin-like

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs12150220	A>T	Risk-factor	Coding sequence variant, missense variant
rs112191372	C>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs397514692	A>G	Pathogenic	Coding sequence variant, missense variant
rs1057519492	C>T	Pathogenic	Coding sequence variant, missense variant
rs1057519493	G>A	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs1057524876	G>C	Pathogenic	Coding sequence variant, missense variant
rs1597458411	G>T	Pathogenic	Missense variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT017810	hsa-miR-335-5p	Microarray	18185580

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0002218	Process	Activation of innate immune response	IBA
GO:0002221	Process	Pattern recognition receptor signaling pathway	NAS	22258606
GO:0002376	Process	Immune system process	IEA
GO:0003690	Function	Double-stranded DNA binding	IDA	33243852
GO:0003725	Function	Double-stranded RNA binding	IDA	33243852
GO:0004175	Function	Endopeptidase activity	IDA	33731929
GO:0005515	Function	Protein binding	IPI	11472070, 15107016, 17418785, 18511561, 19223583, 19337385, 22801494, 30291141, 33731929, 35618833
GO:0005524	Function	ATP binding	IDA	15212762, 33243852
GO:0005524	Function	ATP binding	IEA
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	17164409
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005730	Component	Nucleolus	NAS	28263976
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	NAS	28263976
GO:0005829	Component	Cytosol	IDA	17164409, 22665479
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0006508	Process	Proteolysis	IEA
GO:0006915	Process	Apoptotic process	NAS	11076957
GO:0006954	Process	Inflammatory response	IBA
GO:0006954	Process	Inflammatory response	IEA
GO:0007165	Process	Signal transduction	IMP	30096351
GO:0008233	Function	Peptidase activity	IEA
GO:0008656	Function	Cysteine-type endopeptidase activator activity involved in apoptotic process	NAS	11076957
GO:0012501	Process	Programmed cell death	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0016887	Function	ATP hydrolysis activity	IDA	33243852
GO:0019899	Function	Enzyme binding	IPI	11076957
GO:0019904	Function	Protein domain specific binding	IPI	16575408
GO:0032495	Process	Response to muramyl dipeptide	ISS
GO:0032731	Process	Positive regulation of interleukin-1 beta production	IDA	7642516, 33243852
GO:0032731	Process	Positive regulation of interleukin-1 beta production	IEA
GO:0032731	Process	Positive regulation of interleukin-1 beta production	ISS
GO:0035591	Function	Signaling adaptor activity	IDA	22665479
GO:0038187	Function	Pattern recognition receptor activity	IBA
GO:0038187	Function	Pattern recognition receptor activity	IDA	33243852
GO:0042742	Process	Defense response to bacterium	ISS
GO:0042981	Process	Regulation of apoptotic process	IEA
GO:0045087	Process	Innate immune response	IEA
GO:0050727	Process	Regulation of inflammatory response	IDA	15212762
GO:0050729	Process	Positive regulation of inflammatory response	IDA	12191486
GO:0051260	Process	Protein homooligomerization	IDA	33420028, 33420033, 33731929
GO:0051260	Process	Protein homooligomerization	IEA
GO:0051260	Process	Protein homooligomerization	ISS
GO:0051402	Process	Neuron apoptotic process	IDA	15212762
GO:0051604	Process	Protein maturation	IDA	32109412, 33852854, 35594856
GO:0051607	Process	Defense response to virus	IDA	33093214, 33243852
GO:0051607	Process	Defense response to virus	IEA
GO:0061702	Component	Canonical inflammasome complex	IDA	33731929
GO:0061702	Component	Canonical inflammasome complex	IEA
GO:0070269	Process	Pyroptotic inflammatory response	IDA	32109412, 33852854, 35594856
GO:0070269	Process	Pyroptotic inflammatory response	IDA	33093214, 33731929
GO:0070269	Process	Pyroptotic inflammatory response	NAS	26611636
GO:0071493	Process	Cellular response to UV-B	IMP	30096351
GO:0072558	Component	NLRP1 inflammasome complex	IDA	12191486, 30291141, 33420028, 33420033
GO:0072558	Component	NLRP1 inflammasome complex	IEA
GO:0072558	Component	NLRP1 inflammasome complex	IPI	17349957
GO:0072558	Component	NLRP1 inflammasome complex	ISS
GO:0072558	Component	NLRP1 inflammasome complex	TAS	20303873
GO:0072559	Component	NLRP3 inflammasome complex	IBA
GO:0097193	Process	Intrinsic apoptotic signaling pathway	IBA
GO:0097264	Process	Self proteolysis	IDA	33093214
GO:0140374	Process	Antiviral innate immune response	IDA	33093214
GO:0140608	Function	Cysteine-type endopeptidase activator activity	IBA
GO:0140608	Function	Cysteine-type endopeptidase activator activity	IDA	22665479, 30291141, 33852854, 35594856
GO:0140632	Process	Canonical inflammasome complex assembly	IEA
GO:0140639	Process	Positive regulation of pyroptotic inflammatory response	IDA	33852854
GO:0140693	Function	Molecular condensate scaffold activity	IDA	33420028, 33420033
GO:0141201	Process	Pyroptotic cell death	IDA	32109412
GO:1904784	Process	NLRP1 inflammasome complex assembly	IDA	22665479, 33243852, 33420028, 33420033, 33852854
GO:1904784	Process	NLRP1 inflammasome complex assembly	IDA	22665479, 33243852, 33420028, 33420033, 33852854, 35594856
GO:1904784	Process	NLRP1 inflammasome complex assembly	IMP	27662089, 31484767

Other IDs

• MIM: 606636
• HGNC: 14374
• e!Ensembl: ENSG00000091592

Protein

• UniProt ID: Q9C000
• Protein name: NACHT, LRR and PYD domains-containing protein 1 (EC 3.4.-.-) (EC 3.6.4.-) (Caspase recruitment domain-containing protein 7) (Death effector filament-forming ced-4-like apoptosis protein) (Nucleotide-binding domain and caspase recruitment domain) [Cleaved
• Protein function: Acts as the sensor component of the NLRP1 inflammasome, which mediates inflammasome activation in response to various pathogen-associated signals, leading to subsequent pyroptosis (PubMed:12191486, PubMed:17349957, PubMed:22665479, PubMed:276620
• PDB: 1PN5, 3KAT, 4IFP, 4IM6, 5Y3S, 6K7V, 6X6C, 6XKK, 7WGE, 8ZGD
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF02758	PYRIN	8 → 84	PAAD/DAPIN/Pyrin domain	Domain
  PF05729	NACHT	328 → 497	NACHT domain	Domain
  PF17779	NOD2_WH	566 → 621	NOD2 winged helix domain	Domain
  PF17776	NLRC4_HD2	623 → 733	NLRC4 helical domain HD2	Domain
  PF13516	LRR_6	863 → 886	Leucine Rich repeat	Repeat
  PF13516	LRR_6	920 → 943	Leucine Rich repeat	Repeat
  PF13553	FIIND	1100 → 1354	Function to find	Family
  PF00619	CARD	1379 → 1462	Caspase recruitment domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Widely expressed (PubMed:11113115, PubMed:17164409). Abundantly expressed in primary immune cells (isoform 1 and isoform 2), including in neutrophils, monocytes/macrophages, dendritic cells (mostly Langerhans cells), and B- and T-lymph
• Sequence:

  MAGGAWGRLACYLEFLKKEELKEFQLLLANKAHSRSSSGETPAQPEKTSGMEVASYLVAQ
  YGEQRAWDLALHTWEQMGLRSLCAQAQEGAGHSPSFPYSPSEPHLGSPSQPTSTAVLMPW
  IHELPAGCTQGSERRVLRQLPDTSGRRWREISASLLYQALPSSPDHESPSQESPNAPTST
  AVLGSWGSPPQPSLAPREQEAPGTQWPLDETSGIYYTEIREREREKSEKGRPPWAAVVGT
  PPQAHTSLQPHHHPWEPSVRESLCSTWPWKNEDFNQKFTQLLLLQRPHPRSQDPLVKRSW
  PDYVEENRGHLIEIRDLFGPGLDTQEPRIVILQGAAGIGKSTLARQVKEAWGRGQLYGDR
  FQHVFYFSCRELAQSKVVSLAELIGKDGTATPAPIRQILSRPERLLFILDGVDEPGWVLQ
  EPSSELCLHWSQPQPADALLGSLLGKTILPEASFLITARTTALQNLIPSLEQARWVEVLG
  FSESSRKEYFYRYFTDERQAIRAFRLVKSNKELWALCLVPWVSWLACTCLMQQMKRKEKL
  TLTSKTTTTLCLHYLAQALQAQPLGPQLRDLCSLAAEGIWQKKTLFSPDDLRKHGLDGAI
  ISTFLKMGILQEHPIPLSYSFIHLCFQEFFAAMSYVLEDEKGRGKHSNCIIDLEKTLEAY
  GIHGLFGASTTRFLLGLLSDEGEREMENIFHCRLSQGRNLMQWVPSLQLLLQPHSLESLH
  CLYETRNKTFLTQVMAHFEEMGMCVETDMELLVCTFCIKFSRHVKKLQLIEGRQHRSTWS
  PTMVVLFRWVPVTDAYWQILFSVLKVTRNLKELDLSGNSLSHSAVKSLCKTLRRPRCLLE
  TLRLAGCGLTAEDCKDLAFGLRANQTLTELDLSFNVLTDAGAKHLCQRLRQPSCKLQRLQ
  LVSCGLTSDCCQDLASVLSASPSLKELDLQQNNLDDVGVRLLCEGLRHPACKLIRLGLDQ
  TTLSDEMRQELRALEQEKPQLLIFSRRKPSVMTPTEGLDTGEMSNSTSSLKRQRLGSERA
  ASHVAQANLKLLDVSKIFPIAEIAEESSPEVVPVELLCVPSPASQGDLHTKPLGTDDDFW
  GPTGPVATEVVDKEKNLYRVHFPVAGSYRWPNTGLCFVMREAVTVEIEFCVWDQFLGEIN
  PQHSWMVAGPLLDIKAEPGAVEAVHLPHFVALQGGHVDTSLFQMAHFKEEGMLLEKPARV
  ELHHIVLENPSFSPLGVLLKMIHNALRFIPVTSVVLLYHRVHPEEVTFHLYLIPSDCSIR
  KAIDDLEMKFQFVRIHKPPPLTPLYMGCRYTVSGSGSGMLEILPKELELCYRSPGEDQLF
  SEFYVGHLGSGIRLQVKDKKDETLVWEALVKPGDLMPATTLIPPARIAVPSPLDAPQLLH
  FVDQYREQLIARVTSVEVVLDKLHGQVLSQEQYERVLAENTRPSQMRKLFSLSQSWDRKC
  KDGLYQALKETHPHLIMELWEKGSKKGLLPLSS

• Sequence length: 1473

Pathways

KEGG:

NOD-like receptor signaling pathway

Reactome:

The NLRP1 inflammasome

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)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Autoinflammation with arthritis and dyskeratosis	Likely pathogenic; Pathogenic	rs1057524876	RCV000445359	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome	Pathogenic; Likely pathogenic	rs1057519492, rs1057519493, rs397514692	RCV000416558 RCV000416502 RCV000043505	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Respiratory papillomatosis, juvenile recurrent, congenital	Pathogenic	rs1597458411	RCV001027400	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORNEAL INTRAEPITHELIAL DYSKERATOSIS, PALMOPLANTAR HYPERKERATOSIS, LARYNGEAL DYSKERATOSIS SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORNEAL NEOVASCULARIZATION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CROHN'S DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESSENTIAL TREMOR	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioma susceptibility 1	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPOTENSION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IRRITABLE BOWEL SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KERATITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG ADENOCARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MIGRAINE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NLRP1-related disorder	Likely benign; Conflicting classifications of pathogenicity; Benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-SMALL CELL LUNG CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostate cancer	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Uncertain significance; Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TREATMENT-RESISTANT HYPERTENSION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VITILIGO	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Vitiligo-associated multiple autoimmune disease susceptibility 1	Uncertain significance; Likely benign; Benign; Conflicting classifications of pathogenicity	ClinVar CTD, ClinVar CTD, ClinVar	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute leukemia	Leukemia	BEFREE	15285719		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	16166335		★☆☆☆☆ Found in Text Mining only
Age related macular degeneration	Age-related macular degeneration	BEFREE	29454857		★☆☆☆☆ Found in Text Mining only
Alveolitis, Fibrosing	Alveolitis	BEFREE	21149496		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	26939933	Associate	★☆☆☆☆ Found in Text Mining only
Alzheimer Disease, Early Onset	Alzheimer disease	BEFREE	30349052		★☆☆☆☆ Found in Text Mining only
Amyloidosis	Amyloidosis	BEFREE	7530877		★☆☆☆☆ Found in Text Mining only
Anemia Sickle Cell	Sickle cell anemia	Pubtator	34627079	Associate	★☆☆☆☆ Found in Text Mining only
Ankylosing spondylitis	Ankylosing Spondylitis	BEFREE	24065540		★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	BEFREE	28479265		★☆☆☆☆ Found in Text Mining only
Anxiety Disorders	Anxiety Disorder	BEFREE	28479265		★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm Abdominal	Aortic aneurysm	Pubtator	29528779	Associate	★☆☆☆☆ Found in Text Mining only
Appendicitis	Appendicitis	Pubtator	16794389	Associate	★☆☆☆☆ Found in Text Mining only
Arterial Occlusive Diseases	Arterial occlusive disease	Pubtator	29528779	Stimulate	★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	BEFREE	22235789		★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	Pubtator	22235789	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	21976003, 22665479, 23382179, 35126351, 37008939, 37659984	Associate	★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	29154202, 31344532		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	Pubtator	36309085	Associate	★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	BEFREE	10720201		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	Pubtator	32276737	Associate	★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	LHGDN	14691733		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	17377159, 17637824, 19727120, 20574744, 21149496, 21331694, 21976003, 22235789, 23294928, 23374100, 23773036, 25611377, 29152150, 30291141		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune disease	Pubtator	17377159, 17637824, 20370570, 21976003, 22235789, 23349227, 23374100, 23382179, 36309085	Associate	★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases of the Nervous System	Autoimmune nervous system disorder	Pubtator	30291141	Associate	★☆☆☆☆ Found in Text Mining only
Autoimmune hemolytic anemia	Autoimmune hemolytic anemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS	Autoinflammation With Arthritis And Dyskeratosis	BEFREE	27965258, 28387826		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS	Autoinflammation With Arthritis And Dyskeratosis	GENOMICS_ENGLAND_DG	27965258, 29850521		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS	Autoinflammation With Arthritis And Dyskeratosis	UNIPROT_DG	27965258		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS	Autoinflammation With Arthritis And Dyskeratosis	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS	Autoinflammation With Arthritis And Dyskeratosis	CTD_human_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Autoinflammatory disorder	Autoinflammatory Disease	BEFREE	19120479, 27965258		★☆☆☆☆ Found in Text Mining only
Autoinflammatory disorder	Autoinflammatory Disease	GENOMICS_ENGLAND_DG	29850521		★☆☆☆☆ Found in Text Mining only
Behcet Syndrome	Behcet Syndrome	BEFREE	26833430		★☆☆☆☆ Found in Text Mining only
Biliary Tract Cancer	Biliary Tract Cancer	BEFREE	30218151		★☆☆☆☆ Found in Text Mining only
Brain Injuries Traumatic	Brain injuries	Pubtator	23061392	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	23103368, 30285668, 30539868, 31565486, 31684807		★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Carcinoma Basal Cell	Basal cell carcinoma	Pubtator	37278107	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	30738816, 37278107	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Dilated	Cardiomyopathy	BEFREE	29255249		★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Familial Idiopathic	Cardiomyopathy	BEFREE	29255249		★☆☆☆☆ Found in Text Mining only
Celiac Disease	Celiac disease	BEFREE	21245836		★☆☆☆☆ Found in Text Mining only
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 1	Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome	BEFREE	28441068		★☆☆☆☆ Found in Text Mining only
Cervical Intraepithelial Neoplasia	Cervical Intraepithelial Neoplasia	BEFREE	27485363		★☆☆☆☆ Found in Text Mining only
Chagas Cardiomyopathy	Chagas cardiomyopathy	Pubtator	29438387	Associate	★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	BEFREE	31066258, 31344532, 31601004		★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	BEFREE	25725098, 31812068		★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	25611377, 25725098		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	36127676	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	28407688		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	26378020	Inhibit	★☆☆☆☆ Found in Text Mining only
Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome	Corneal Intraepithelial Dyskeratosis-Palmoplantar Hyperkeratosis-Laryngeal Dyskeratosis Syndrome	Orphanet			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Corneal Neovascularization	Corneal Neovascularization	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary Stenosis	Coronary stenosis	Pubtator	32276737	Associate	★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	BEFREE	19001869, 19029827, 20403135, 23770116		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	LHGDN	19001869		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn disease	Pubtator	22665479	Associate	★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	24145861		★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	30639279, 30905126, 31518574		★☆☆☆☆ Found in Text Mining only
Depressive Disorder	Major depressive disorder	Pubtator	40403713	Associate	★☆☆☆☆ Found in Text Mining only
Dermatitis	Dermatitis	BEFREE	29348630		★☆☆☆☆ Found in Text Mining only
Dermatitis Atopic	Atopic dermatitis	Pubtator	36736455	Associate	★☆☆☆☆ Found in Text Mining only
Dermatitis, Atopic	Dermatitis	BEFREE	20109744, 20370570		★☆☆☆☆ Found in Text Mining only
Dermatologic disorders	Dermatologic Disorders	BEFREE	27662089, 28733143, 29545203		★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	31323271		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	31323271		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	36309085	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 1	Diabetes mellitus, type 1	Pubtator	22235789, 23382179, 31396539	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	20370570, 22235789, 23922971, 28783585, 31396539		★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathy	Diabetic Nephropathy	BEFREE	29031829		★☆☆☆☆ Found in Text Mining only
Diabetic Retinopathy	Diabetic Retinopathy	BEFREE	31618425		★☆☆☆☆ Found in Text Mining only
Dyskeratosis Congenita Autosomal Dominant	Dyskeratosis congenita	Pubtator	30291141	Associate	★☆☆☆☆ Found in Text Mining only
Ectodermal Dysplasia	Ectodermal Dysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Eczema	Eczema	BEFREE	20109744, 20370570		★☆☆☆☆ Found in Text Mining only
Encephalitis	Encephalitis	Pubtator	24330827	Associate	★☆☆☆☆ Found in Text Mining only
Encephalitis	Encephalitis	BEFREE	28732502, 30677569		★☆☆☆☆ Found in Text Mining only
Epilepsy, Temporal Lobe	Epilepsy	BEFREE	25626361		★☆☆☆☆ Found in Text Mining only
Esophageal carcinoma	Esophageal Carcinoma	BEFREE	27635027, 29136005		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophagus Neoplasm	BEFREE	27635027, 29136005		★☆☆☆☆ Found in Text Mining only
Exanthema	Exanthema	Pubtator	22235789	Associate	★☆☆☆☆ Found in Text Mining only
Gastrointestinal inflammation	Gastrointestinal inflammation	BEFREE	25725098		★☆☆☆☆ Found in Text Mining only
Generalized pustular psoriasis	Pustular Psoriasis	BEFREE	29422292		★☆☆☆☆ Found in Text Mining only
Glomerulonephritis Membranous	Membranous glomerulonephritis	Pubtator	40018947	Associate	★☆☆☆☆ Found in Text Mining only
Hamman-Rich syndrome	Hamman-Rich syndrome	BEFREE	21149496		★☆☆☆☆ Found in Text Mining only
Hereditary Autoinflammatory Diseases	Autoinflammatory Disease	BEFREE	28387826		★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington Disease	BEFREE	19001869		★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington Disease	LHGDN	19001869		★☆☆☆☆ Found in Text Mining only
Hypereosinophilia	Hypereosinophilia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hyperkeratosis	Hyperkeratosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypertyrosinemia	Hypertyrosinemia	BEFREE	28547180		★☆☆☆☆ Found in Text Mining only
Hypothyroidism	Hypothyroidism	BEFREE	29462796		★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	21149496, 28441449		★☆☆☆☆ Found in Text Mining only
Immune System Diseases	Immune System Diseases	BEFREE	23770116		★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	BEFREE	30559726		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	20697295, 25725098, 30214011, 30759441		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory bowel disease	Pubtator	36309085	Associate	★☆☆☆☆ Found in Text Mining only
Inflammatory dermatosis	Dermatitis	BEFREE	29348630		★☆☆☆☆ Found in Text Mining only
Intervertebral Disc Degeneration	Intervertebral disc disease	Pubtator	35184666	Associate	★☆☆☆☆ Found in Text Mining only
Juvenile arthritis	Arthritis	BEFREE	18946481, 26005048		★☆☆☆☆ Found in Text Mining only
Keratoconjunctivitis Sicca	Keratoconjunctivitis Sicca	HPO_DG			★☆☆☆☆ Found in Text Mining only
Keratoderma, Palmoplantar	Palmoplantar keratoderma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	BEFREE	26182076		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney disease	Pubtator	26182076	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Failure, Acute	Kidney Failure	BEFREE	31111056		★☆☆☆☆ Found in Text Mining only
Leprosy	Leprosy	BEFREE	23770116		★☆☆☆☆ Found in Text Mining only
Limbal stem cell deficiency	Limbal stem cell deficiency	BEFREE	26902715		★☆☆☆☆ Found in Text Mining only
Limbal stem cell deficiency	Limbal stem cell deficiency	HPO_DG			★☆☆☆☆ Found in Text Mining only
Lung Diseases	Lung disease	Pubtator	31066258	Stimulate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	11592035, 22235789, 26182076	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	22235789, 22878274, 26182076, 29152150		★☆☆☆☆ Found in Text Mining only
Lupus Nephritis	Lupus Nephritis	BEFREE	31694740		★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	36541912	Stimulate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	37278107	Associate	★☆☆☆☆ Found in Text Mining only
Macular cutaneous amyloidosis	Macular Amyloidosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	23103368, 30285668, 30539868, 31565486, 31684807		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of esophagus	Esophagus Neoplasm	BEFREE	27635027, 29136005		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of kidney	Kidney Cancer	BEFREE	15285719		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	31060118		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	22067658		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of skin	Skin cancer	BEFREE	27662089, 29348630, 29545203, 30291141		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	23172369, 25725098, 27662089, 28733143		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	25611377, 25725098		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	22524199, 28263976, 28988323, 30149677		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Melanoma	Pubtator	28623311, 30149677, 37620327	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mental Depression	Mental Depression	BEFREE	30639279, 30905126, 31518574		★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic Diseases	BEFREE	29079203		★☆☆☆☆ Found in Text Mining only
Metastatic melanoma	Metastatic Melanoma	BEFREE	28263976, 30055408		★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	Pubtator	30199767	Stimulate	★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial Diseases	BEFREE	29479032		★☆☆☆☆ Found in Text Mining only
Mucocutaneous Lymph Node Syndrome	Kawasaki disease	BEFREE	22507623		★☆☆☆☆ Found in Text Mining only
Mucocutaneous Lymph Node Syndrome	Kawasaki disease	Pubtator	22507623	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	28623311, 28988323		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple sclerosis	Pubtator	28623311, 31235738	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis, Relapsing-Remitting	Multiple Sclerosis	BEFREE	25586466		★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia, Chronic	Myeloid Leukemia	BEFREE	18385754, 29428725, 30055408		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	16166335, 21641992, 22067658, 23103368, 24220933, 25611377, 27090210, 27635027, 28263976, 28334858, 29587665, 31448485, 31600220, 31844921		★☆☆☆☆ Found in Text Mining only
Nephritis	Nephritis	BEFREE	22235789, 31111056		★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	25626361		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	28734998, 9862428		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	9862428		★☆☆☆☆ Found in Text Mining only
NON RARE IN EUROPE: Vitiligo	Vitiligo	Orphanet			★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	24326616, 29807114, 29857117		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteoarthritis, Knee	Knee osteoarthritis	BEFREE	29393464, 30755787		★☆☆☆☆ Found in Text Mining only
PALMOPLANTAR CARCINOMA, MULTIPLE SELF-HEALING	Palmoplantar Carcinoma	UNIPROT_DG	23349227, 27662089		★☆☆☆☆ Found in Text Mining only
PALMOPLANTAR CARCINOMA, MULTIPLE SELF-HEALING	Palmoplantar Carcinoma	ORPHANET_DG	23349227		★☆☆☆☆ Found in Text Mining only
PALMOPLANTAR CARCINOMA, MULTIPLE SELF-HEALING	Palmoplantar Carcinoma	BEFREE	27662089		★☆☆☆☆ Found in Text Mining only
PALMOPLANTAR CARCINOMA, MULTIPLE SELF-HEALING	Palmoplantar Carcinoma	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
PALMOPLANTAR CARCINOMA, MULTIPLE SELF-HEALING	Palmoplantar Carcinoma	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	31060118		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	35682857, 36199146, 39318060	Associate	★☆☆☆☆ Found in Text Mining only
Parakeratosis	Parakeratosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	28732502, 30112966		★☆☆☆☆ Found in Text Mining only
Peripheral Arterial Diseases	Vascular Diseases	BEFREE	27423725		★☆☆☆☆ Found in Text Mining only
Peripheral Vascular Diseases	Vascular Diseases	BEFREE	27423725		★☆☆☆☆ Found in Text Mining only
Phrynoderma	Phrynoderma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Polyarthritis	Polyarthritis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	BEFREE	28698075		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	22067658		★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	BEFREE	24909542		★☆☆☆☆ Found in Text Mining only
Psoriasis vulgaris	Psoriasis vulgaris	BEFREE	29422292		★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	31066258	Stimulate	★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	31601004	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary Emphysema	Pulmonary Emphysema	BEFREE	28814068		★☆☆☆☆ Found in Text Mining only
Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	21149496, 29512688		★☆☆☆☆ Found in Text Mining only
Punctate epithelial keratitis	Punctate keratitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Punctate keratitis	Punctate keratitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Rectal Carcinoma	Rectal Carcinoma	BEFREE	30838443		★☆☆☆☆ Found in Text Mining only
Renal carcinoma	Renal Carcinoma	BEFREE	15285719		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	19001869, 21976003, 24065540, 26005048, 28653215		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	LHGDN	19001869		★☆☆☆☆ Found in Text Mining only
Seizures	Seizures	Pubtator	28503575	Associate	★☆☆☆☆ Found in Text Mining only
Senile Plaques	Senile Plaques	BEFREE	7530877		★☆☆☆☆ Found in Text Mining only
Sepsis	Sepsis	Pubtator	18263805	Associate	★☆☆☆☆ Found in Text Mining only
Septicemia	Septicemia	BEFREE	18263805		★☆☆☆☆ Found in Text Mining only
Skin carcinoma	Skin Carcinoma	BEFREE	30738816		★☆☆☆☆ Found in Text Mining only
Skin Diseases	Skin disease	Pubtator	27662089	Associate	★☆☆☆☆ Found in Text Mining only
Skin lesion	Skin Lesion	BEFREE	30552699		★☆☆☆☆ Found in Text Mining only
Skin Neoplasms	Skin neoplasm	Pubtator	27662089, 30291141, 36581625	Associate	★☆☆☆☆ Found in Text Mining only
Skin Neoplasms	Skin neoplasm	Pubtator	37278107	Inhibit	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	30704959		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	27130464, 28334858		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	35574984	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of skin	Skin carcinoma	BEFREE	30738816		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	36541912	Associate	★☆☆☆☆ Found in Text Mining only
Systemic Scleroderma	Scleroderma	BEFREE	21149496		★☆☆☆☆ Found in Text Mining only
Thyroiditis	Thyroiditis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Thyroiditis Autoimmune	Thyroiditis	Pubtator	23374100, 29915579	Associate	★☆☆☆☆ Found in Text Mining only
Tyrosine Transaminase Deficiency Disease	Tyrosinemia	BEFREE	27924409		★☆☆☆☆ Found in Text Mining only
Tyrosinemias	Tyrosinemia	BEFREE	28547180		★☆☆☆☆ Found in Text Mining only
Uveitis	Uveitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Uveitis Posterior	Uveitis	Pubtator	32707200	Associate	★☆☆☆☆ Found in Text Mining only
Uveomeningoencephalitic Syndrome	Uveomeningoencephalitic Syndrome	BEFREE	21331694		★☆☆☆☆ Found in Text Mining only
Vasculitis Leukocytoclastic Cutaneous	Vasculitis	Pubtator	36581625	Associate	★☆☆☆☆ Found in Text Mining only
Vitiligo	Vitiligo	Pubtator	11592035, 17377159, 17568780, 17637824, 19727120, 20145641, 22235789, 22665479, 23374100, 23382179	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Vitiligo	Vitiligo	LHGDN	14691733		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Vitiligo	Vitiligo	BEFREE	17377159, 17568780, 19727120, 20145641, 20152874, 20574744, 21331694, 22117610, 22235789, 23374100, 26005048, 29152150		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Vitiligo	Vitiligo	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding)	Vitiligo-associated SYSTEMIC LUPUS ERYTHEMATOSUS	BEFREE	11592035, 17377159, 17568780, 19727120, 20145641, 20152874, 20574744, 21331694, 22117610, 22235789, 23374100, 26005048, 29152150		★☆☆☆☆ Found in Text Mining only
VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding)	Vitiligo-associated SYSTEMIC LUPUS ERYTHEMATOSUS	UNIPROT_DG	17377159		★☆☆☆☆ Found in Text Mining only
VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding)	Vitiligo-associated SYSTEMIC LUPUS ERYTHEMATOSUS	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding)	Vitiligo-associated SYSTEMIC LUPUS ERYTHEMATOSUS	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only