NFKB2 (nuclear factor kappa B subunit 2)

Gene

• Entrez ID: 4791
• Gene name: Nuclear factor kappa B subunit 2
• Gene symbol: NFKB2
• Synonyms (NCBI Gene): CVID10, H2TF1, LYT-10, LYT10, NF-kB2, p100, p49/p100, p52
• Chromosome: 10
• Chromosome location: 10q24.32
• Summary: This gene encodes a subunit of the transcription factor complex nuclear factor-kappa-B (NFkB). The NFkB complex is expressed in numerous cell types and functions as a central activator of genes involved in inflammation and immune function. The protein enc

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs748910652	C>T	Pathogenic	Coding sequence variant, stop gained
rs1565207233	C>T	Likely-pathogenic	5 prime UTR variant, stop gained, coding sequence variant
rs1589866171	G>T	Pathogenic	Splice donor variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT016350	hsa-miR-193b-3p	Microarray	20304954
MIRT027644	hsa-miR-98-5p	Microarray	19088304
MIRT038120	hsa-miR-423-5p	CLASH	23622248
MIRT1183464	hsa-miR-203	CLIP-seq
MIRT1183465	hsa-miR-3144-5p	CLIP-seq
MIRT1183466	hsa-miR-3179	CLIP-seq
MIRT1183467	hsa-miR-3191	CLIP-seq
MIRT1183468	hsa-miR-3202	CLIP-seq
MIRT1183469	hsa-miR-342-5p	CLIP-seq
MIRT1183470	hsa-miR-4497	CLIP-seq
MIRT1183471	hsa-miR-4651	CLIP-seq
MIRT1183472	hsa-miR-4652-5p	CLIP-seq
MIRT1183473	hsa-miR-4664-5p	CLIP-seq
MIRT1183474	hsa-miR-4694-5p	CLIP-seq
MIRT1183475	hsa-miR-4718	CLIP-seq
MIRT1183476	hsa-miR-4747-5p	CLIP-seq
MIRT1183477	hsa-miR-491-5p	CLIP-seq
MIRT1183478	hsa-miR-608	CLIP-seq
MIRT1183479	hsa-miR-609	CLIP-seq
MIRT1183480	hsa-miR-615-5p	CLIP-seq
MIRT2282468	hsa-miR-3151	CLIP-seq
MIRT2282469	hsa-miR-3184	CLIP-seq
MIRT1183469	hsa-miR-342-5p	CLIP-seq
MIRT2282470	hsa-miR-4447	CLIP-seq
MIRT2282471	hsa-miR-4455	CLIP-seq
MIRT2282472	hsa-miR-4472	CLIP-seq
MIRT1183471	hsa-miR-4651	CLIP-seq
MIRT1183473	hsa-miR-4664-5p	CLIP-seq
MIRT1183474	hsa-miR-4694-5p	CLIP-seq
MIRT1183477	hsa-miR-491-5p	CLIP-seq
MIRT1183478	hsa-miR-608	CLIP-seq
MIRT1183479	hsa-miR-609	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
AIP	Repression	21984905
JUN	Unknown	7541912
SP1	Unknown	7541912

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000785	Component	Chromatin	ISA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA	12835724
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IEA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	IDA	12835724
GO:0002268	Process	Follicular dendritic cell differentiation	IEA
GO:0002467	Process	Germinal center formation	IEA
GO:0003677	Function	DNA binding	IEA
GO:0003700	Function	DNA-binding transcription factor activity	IEA
GO:0003700	Function	DNA-binding transcription factor activity	TAS	1760839, 1876189
GO:0005515	Function	Protein binding	IPI	8441377, 11239468, 11526476, 14743216, 16108830, 18617892, 21988832, 25609649, 25852190, 28514442, 33961781, 35140242, 35271311
GO:0005634	Component	Nucleus	IDA	15677444
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005737	Component	Cytoplasm	IDA	15677444
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	TAS
GO:0006355	Process	Regulation of DNA-templated transcription	IDA	8360178
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0007165	Process	Signal transduction	IEA
GO:0007249	Process	Canonical NF-kappaB signal transduction	IDA	37816088
GO:0030198	Process	Extracellular matrix organization	IEA
GO:0032496	Process	Response to lipopolysaccharide	IEA
GO:0033256	Component	I-kappaB/NF-kappaB complex	IEA
GO:0033257	Component	Bcl3/NF-kappaB2 complex	IDA	9407099
GO:0034097	Process	Response to cytokine	IEA
GO:0038061	Process	Non-canonical NF-kappaB signal transduction	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	12835724
GO:0048511	Process	Rhythmic process	IEA
GO:0048536	Process	Spleen development	IEA
GO:0141124	Process	Intracellular signaling cassette	IEA
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IDA	28473536

Other IDs

• MIM: 164012
• HGNC: 7795
• e!Ensembl: ENSG00000077150

Protein

• UniProt ID: Q00653
• Protein name: Nuclear factor NF-kappa-B p100 subunit (DNA-binding factor KBF2) (H2TF1) (Lymphocyte translocation chromosome 10 protein) (Nuclear factor of kappa light polypeptide gene enhancer in B-cells 2) (Oncogene Lyt-10) (Lyt10) [Cleaved into: Nuclear factor NF-kap
• Protein function: NF-kappa-B is a pleiotropic transcription factor present in almost all cell types and is the endpoint of a series of signal transduction events that are initiated by a vast array of stimuli related to many biological processes such as inflammati
• PDB: 1A3Q, 2D96, 3DO7, 4OT9, 5ZMC, 7CLI, 7VUP, 7VUQ, 7W7L, 8G8Q, 8G8S
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00554	RHD_DNA_bind	40 → 220	Rel homology DNA-binding domain	Domain
  PF16179	RHD_dimer	229 → 329	Rel homology dimerisation domain	Domain
  PF00023	Ank	527 → 558	Ankyrin repeat	Repeat
  PF00023	Ank	667 → 699	Ankyrin repeat	Repeat
  PF00531	Death	775 → 850	Death domain	Domain

• Sequence:

  MESCYNPGLDGIIEYDDFKLNSSIVEPKEPAPETADGPYLVIVEQPKQRGFRFRYGCEGP
  SHGGLPGASSEKGRKTYPTVKICNYEGPAKIEVDLVTHSDPPRAHAHSLVGKQCSELGIC
  AVSVGPKDMTAQFNNLGVLHVTKKNMMGTMIQKLQRQRLRSRPQGLTEAEQRELEQEAKE
  LKKVMDLSIVRLRFSAFLRASDGSFSLPLKPVISQPIHDSKSPGASNLKISRMDKTAGSV
  RGGDEVYLLCDKVQKDDIEVRFYEDDENGWQAFGDFSPTDVHKQYAIVFRTPPYHKMKIE
  RPVTVFLQLKRKRGGDVSDSKQFTYYPLVEDKEEVQRKRRKALPTFSQPFGGGSHMGGGS
  GGAAGGYGGAGGGGSLGFFPSSLAYSPYQSGAGPMGCYPGGGGGAQMAATVPSRDSGEEA
  AEPSAPSRTPQCEPQAPEMLQRAREYNARLFGLAQRSARALLDYGVTADARALLAGQRHL
  LTAQDENGDTPLHLAIIHGQTSVIEQIVYVIHHAQDLGVVNLTNHLHQTPLHLAVITGQT
  SVVSFLLRVGADPALLDRHGDSAMHLALRAGAGAPELLRALLQSGAPAVPQLLHMPDFEG
  LYPVHLAVRARSPECLDLLVDSGAEVEATERQGGRTALHLATEMEELGLVTHLVTKLRAN
  VNARTFAGNTPLHLAAGLGYPTLTRLLLKAGADIHAENEEPLCPLPSPPTSDSDSDSEGP
  EKDTRSSFRGHTPLDLTCSTKVKTLLLNAAQNTMEPPLTPPSPAGPGLSLGDTALQNLEQ
  LLDGPEAQGSWAELAERLGLRSLVDTYRQTTSPSGSLLRSYELAGGDLAGLLEALSDMGL
  EEGVRLLRGPETRDKLPSTAEVKEDSAYGSQSVEQEAEKLGPPPEPPGGLCHGHPQPQVH
  

• Sequence length: 900

Pathways

KEGG:

MAPK signaling pathway
NF-kappa B signaling pathway
Osteoclast differentiation
C-type lectin receptor signaling pathway
Legionellosis
Human T-cell leukemia virus 1 infection
Epstein-Barr virus infection
Pathways in cancer
Viral carcinogenesis
Breast cancer

Reactome:

RIP-mediated NFkB activation via ZBP1
DEx/H-box helicases activate type I IFN and inflammatory cytokines production
PKMTs methylate histone lysines
TAK1 activates NFkB by phosphorylation and activation of IKKs complex
Interleukin-1 processing
SUMOylation of immune response proteins
IkBA variant leads to EDA-ID
Dectin-1 mediated noncanonical NF-kB signaling
NIK-->noncanonical NF-kB signaling
The NLRP3 inflammasome
TRAF6 mediated NF-kB activation
Purinergic signaling in leishmaniasis infection

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
Immunodeficiency, common variable, 1	Pathogenic	rs397514331	RCV000055613	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Immunodeficiency, common variable, 10	Pathogenic; Likely pathogenic	rs2135443636, rs727502786, rs727502787, rs2544591393, rs1565214594, rs397514331, rs2061279365, rs2061278560, rs2061116343	RCV001913645 RCV000150031 RCV000150032 RCV003142563 RCV000693767 RCV000077760 RCV001231680 RCV001203847 RCV001262601	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Inherited Immunodeficiency Diseases	Pathogenic	rs748910652, rs1589866171	RCV001027608 RCV001027607	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
NFKB2-related disorder	Likely pathogenic	rs747113965	RCV003406119	★★★★☆ 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
Cervical cancer	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Conflicting classifications of pathogenicity; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMMON VARIABLE IMMUNODEFICIENCY	—	CTD, Disgenet CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEFICIENCY IN ANTERIOR PITUITARY FUNCTION - VARIABLE IMMUNODEFICIENCY SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEFICIENCY IN ANTERIOR PITUITARY FUNCTION, VARIABLE IMMUNODEFICIENCY SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEFICIENCY IN ANTERIOR PITUITARY FUNCTION-VARIABLE IMMUNODEFICIENCY SYNDROME	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DISORDER OF DEVELOPMENT OR MORPHOGENESIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary breast ovarian cancer syndrome	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Uncertain significance; Benign; Conflicting classifications of pathogenicity; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UTERINE FIBROID	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acquired Hypogammaglobulinemia	Common Variable Immunodeficiency	BEFREE	24140114, 27749582, 30927119, 31468084		★☆☆☆☆ Found in Text Mining only
Acquired Hypogammaglobulinemia	Common Variable Immunodeficiency	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
ACTH Deficiency, Isolated	ACTH Deficiency	BEFREE	27749582		★☆☆☆☆ Found in Text Mining only
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	1612589		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	19502791		★☆☆☆☆ Found in Text Mining only
Adrenal cortical hypofunction	Adrenal Cortical Hypofunction	BEFREE	27749582		★☆☆☆☆ Found in Text Mining only
Adrenocorticotropic hormone (ACTH) deficiency (disorder)	Adrenocorticotropic Hormone Deficiency	BEFREE	28472507		★☆☆☆☆ Found in Text Mining only
Adrenocorticotropin deficient adrenal insufficiency	Adrenocorticotropin deficient adrenal insufficiency	HPO_DG			★☆☆☆☆ Found in Text Mining only
Adult Hodgkin Lymphoma	Hodgkin Lymphoma	BEFREE	26988706, 29693141		★☆☆☆☆ Found in Text Mining only
Adult T-Cell Lymphoma/Leukemia	T-Cell Lymphoma/Leukemia	BEFREE	8289813		★☆☆☆☆ Found in Text Mining only
Agammaglobulinemia	Agammaglobulinemia	Pubtator	32813180, 39447838	Associate	★☆☆☆☆ Found in Text Mining only
Alopecia	Alopecia	BEFREE	25237204		★☆☆☆☆ Found in Text Mining only
Alopecia totalis	Alopecia	BEFREE	31150062		★☆☆☆☆ Found in Text Mining only
Alopecia totalis	Alopecia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	38340719	Associate	★☆☆☆☆ Found in Text Mining only
Anemia, Hemolytic	Anemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Anus, Imperforate	Imperforate anus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	BEFREE	25249351, 30415249		★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety disorder	Pubtator	25249351	Associate	★☆☆☆☆ Found in Text Mining only
Anxiety Disorders	Anxiety Disorder	BEFREE	25249351, 30415249		★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	17591977		★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	Pubtator	30941118	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	32152480, 33483588	Associate	★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	17591977		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	30500415		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune disease	Pubtator	30941118, 36509151	Associate	★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	1760839, 7949142		★☆☆☆☆ Found in Text Mining only
B-CELL MALIGNANCY, LOW-GRADE	Lymphocytic Leukemia	BEFREE	7949142		★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar Disorder	BEFREE	29981961		★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	30604907		★☆☆☆☆ Found in Text Mining only
Bone Diseases	Bone Disease	BEFREE	19770515		★☆☆☆☆ Found in Text Mining only
Brachycephaly	Brachycephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Brain Injuries Traumatic	Brain injuries	Pubtator	27530814	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	24012192, 28190248, 31202267, 9681829		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	12835724, 15365563, 24502445, 28190248, 28947144, 36323529, 39278618	Associate	★☆☆☆☆ Found in Text Mining only
Bronchiectasis	Bronchiectasis	GENOMICS_ENGLAND_DG	26279205		★☆☆☆☆ Found in Text Mining only
Bronchiectasis	Bronchiectasis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Burkitt Lymphoma	Burkitt`s Lymphoma	BEFREE	20598117		★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	15365563		★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	30604907		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	29159900		★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	35159281	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	Pubtator	25137373	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Dilated	Dilated cardiomyopathy	Pubtator	25137373	Associate	★☆☆☆☆ Found in Text Mining only
Central Diabetes Insipidus	Diabetes Insipidus	BEFREE	31150062		★☆☆☆☆ Found in Text Mining only
Childhood Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	BEFREE	9264393		★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	7949142		★☆☆☆☆ Found in Text Mining only
Chronic otitis media	Otitis media	HPO_DG			★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	BEFREE	22921465, 27955827		★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	8311838		★☆☆☆☆ Found in Text Mining only
Color blindness	Color Blindness	BEFREE	10447644		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	31521611	Associate	★☆☆☆☆ Found in Text Mining only
Common Variable Immunodeficiency	Common Variable Immunodeficiency	BEFREE	24140114, 24888602, 27749582, 28472507, 30500415, 30927119, 30953794, 31468084		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Common Variable Immunodeficiency	Common Variable Immunodeficiency	ORPHANET_DG	24888602, 25237204		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Common variable immunodeficiency	Common Variable Immunodeficiency	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Common Variable Immunodeficiency	Common variable immunodeficiency	Pubtator	28472507, 28778864, 30941118, 30953794, 32813180, 33859323, 35570134, 36494638	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Common Variable Immunodeficiency	Common Variable Immunodeficiency	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital Abnormalities	Congenital abnormalities	Pubtator	39447838	Associate	★☆☆☆☆ Found in Text Mining only
Congenital contractural arachnodactyly	Congenital Contractural Arachnodactyly	BEFREE	25170898		★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	29935727, 9523851		★☆☆☆☆ Found in Text Mining only
Cystitis	Cystitis	Pubtator	25369740	Stimulate	★☆☆☆☆ Found in Text Mining only
Deficiency in anterior pituitary function-variable immunodeficiency syndrome	DAVID Syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes	Diabetes	BEFREE	28392940, 31541100		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	28392940, 31541100		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	30116745		★☆☆☆☆ Found in Text Mining only
Diarrhea	Diarrhea	Pubtator	30941118	Associate	★☆☆☆☆ Found in Text Mining only
Diffuse Large B-Cell Lymphoma	Diffuse Lymphoma	BEFREE	20889926, 25636172, 28256087, 28368397		★☆☆☆☆ Found in Text Mining only
Dwarfism Pituitary	Pituitary dwarfism	Pubtator	28472507, 28778864	Associate	★☆☆☆☆ Found in Text Mining only
Dyssomnias	Dyssomnia	BEFREE	24012192		★☆☆☆☆ Found in Text Mining only
Dystrophia unguium	Nail dystrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ectodermal Dysplasia	Ectodermal Dysplasia	BEFREE	27749582, 30953794		★☆☆☆☆ Found in Text Mining only
Ectodermal Dysplasia	Ectodermal dysplasia	Pubtator	28778864, 30953794, 40165201	Associate	★☆☆☆☆ Found in Text Mining only
Enterocolitis Necrotizing	Enterocolitis	Pubtator	26274503	Associate	★☆☆☆☆ Found in Text Mining only
Fibroadenoma	Fibroadenoma	BEFREE	15365563		★☆☆☆☆ Found in Text Mining only
Frontotemporal dementia	Frontotemporal dementia	BEFREE	26112410		★☆☆☆☆ Found in Text Mining only
Gastritis	Gastritis	BEFREE	27196595		★☆☆☆☆ Found in Text Mining only
Gastrointestinal Stromal Tumors	Gastrointestinal stromal tumor	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glaucoma, Primary Open Angle	Glaucoma	BEFREE	30138396		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	30940658		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	30940658		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	37087499	Associate	★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Granulomatosis with Polyangiitis	Granulomatosis with polyangiitis	Pubtator	40165201	Associate	★☆☆☆☆ Found in Text Mining only
Granulomatous Slack Skin	Granulomatous Slack Skin	CTD_human_DG	26192916		★☆☆☆☆ Found in Text Mining only
Graves Disease	Graves Disease	BEFREE	27929668		★☆☆☆☆ Found in Text Mining only
Graves Disease	Graves disease	Pubtator	27929668	Associate	★☆☆☆☆ Found in Text Mining only
Growth Disorders	Growth disorder	Pubtator	26088875	Associate	★☆☆☆☆ Found in Text Mining only
Head and Neck Neoplasms	Head and neck neoplasm	Pubtator	35725478	Associate	★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	35212385	Associate	★☆☆☆☆ Found in Text Mining only
Hematologic Diseases	Hematologic disease	Pubtator	30941118	Associate	★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin Disease	BEFREE	26988706, 29693141		★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin disease	Pubtator	26988706, 29693141	Associate	★☆☆☆☆ Found in Text Mining only
Hypogammaglobulinemia	Hypogammaglobulinemia	BEFREE	24140114, 28472507		★☆☆☆☆ Found in Text Mining only
Hypoglycemia	Hypoglycemia	BEFREE	28472507		★☆☆☆☆ Found in Text Mining only
Hypoglycemia	Hypoglycemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoglycemic coma	Hypoglycemic coma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypopituitarism	Hypopituitarism	BEFREE	28472507		★☆☆☆☆ Found in Text Mining only
Immune dysfunction with T-cell inactivation due to calcium entry defect 2	Immune dysfunction with T-cell inactivation	BEFREE	31468084		★☆☆☆☆ Found in Text Mining only
Immune System Diseases	Immune system disease	Pubtator	35486341, 36509151	Associate	★☆☆☆☆ Found in Text Mining only
Immune thrombocytopenic purpura	Immune Thrombocytopenic Purpura	HPO_DG			★☆☆☆☆ Found in Text Mining only
IMMUNODEFICIENCY, COMMON VARIABLE, 1	Common Variable Immunodeficiency	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
IMMUNODEFICIENCY, COMMON VARIABLE, 10	Common variable immunodeficiency	CLINVAR_DG	16303288, 24140114, 24702956, 25524009, 25605273		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
IMMUNODEFICIENCY, COMMON VARIABLE, 10	Common variable immunodeficiency	UNIPROT_DG	24140114, 25524009		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
IMMUNODEFICIENCY, COMMON VARIABLE, 10	Common variable immunodeficiency	BEFREE	25524009, 28472507, 31150062		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
IMMUNODEFICIENCY, COMMON VARIABLE, 10	Common variable immunodeficiency	GENOMICS_ENGLAND_DG	25524009, 26279205		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Immunoglobulin Deficiency, Late-Onset	Immunoglobulin Deficiency	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	BEFREE	25205549, 25524009		★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	HPO_DG			★☆☆☆☆ Found in Text Mining only
INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA	Inclusion Body Myopathy With Paget Disease And Frontotemporal Dementia	BEFREE	26112410		★☆☆☆☆ Found in Text Mining only
Inflammatory Breast Carcinoma	Breast Cancer	BEFREE	16740744		★☆☆☆☆ Found in Text Mining only
Ischemic Stroke	Ischemic stroke	Pubtator	38020537	Associate	★☆☆☆☆ Found in Text Mining only
Isolated somatotropin deficiency	Isolated Somatotropin Deficiency	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ki-1+ Anaplastic Large Cell Lymphoma	Anaplastic Lymphoma	BEFREE	16108830		★☆☆☆☆ Found in Text Mining only
Ki-1+ Anaplastic Large Cell Lymphoma	Anaplastic Lymphoma	LHGDN	16108830		★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	34051812	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	11103774		★☆☆☆☆ Found in Text Mining only
Leukemia, T-Cell	T-cell leukemia	BEFREE	8289813		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	36586539	Associate	★☆☆☆☆ Found in Text Mining only
Lymphedema	Lymphedema	Pubtator	24502445	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	10713675, 20598117, 8036016, 9150386		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma	Lymphoma	Pubtator	7949142	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma	Lymphoma	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma, T-Cell, Cutaneous	Lymphoma	BEFREE	10713675, 24908319		★☆☆☆☆ Found in Text Mining only
Lymphoma, T-Cell, Cutaneous	Lymphoma	CTD_human_DG	26192916		★☆☆☆☆ Found in Text Mining only
Lymphopenia	Lymphopenia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Lymphoproliferative Disorders	Lymphoproliferative syndrome	Pubtator	21871426	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	24012192, 28190248, 31202267, 9681829		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	29159900		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	15753984		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	30604907		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	15753984, 1760839, 20598117, 26112410, 28190248, 7949142, 8036016, 8208540, 8378093, 9021684		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	17909068		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	LHGDN	12835724		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	28190248		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	26364600		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	10713675, 23211527, 28789366, 7949142		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	17692804, 17692805, 21228035, 7949142	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	30506120, 31172825		★☆☆☆☆ Found in Text Mining only
Myasthenia Gravis	Myasthenia gravis	Pubtator	27387891	Associate	★☆☆☆☆ Found in Text Mining only
Myeloproliferative disease	Myeloproliferative disorder	BEFREE	10830747		★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	BEFREE	26112410		★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Carcinoma	Nasopharyngeal carcinoma	Pubtator	26161396	Associate	★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Neoplasms	Nasopharyngeal carcinoma	Pubtator	35394843	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	14576816, 19351823, 19502791, 27196595, 29159900, 29588475, 29666445, 31382450, 7949142, 9150386		★☆☆☆☆ Found in Text Mining only
Neurofibromatosis 2	Neurofibromatosis	Pubtator	37938781	Associate	★☆☆☆☆ Found in Text Mining only
Neuromyelitis Optica	Neuromyelitis Optica	BEFREE	31796527		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	29588475, 31177178		★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	BEFREE	29618326		★☆☆☆☆ Found in Text Mining only
Optic Neuritis	Optic Neuritis	BEFREE	30506120, 31796527		★☆☆☆☆ Found in Text Mining only
Osteitis Deformans	Paget disease	BEFREE	26112410		★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	32633338	Associate	★☆☆☆☆ Found in Text Mining only
Osteopenia	Osteopenia	BEFREE	19770515		★☆☆☆☆ Found in Text Mining only
Osteopetrosis	Osteopetrosis	BEFREE	26178921		★☆☆☆☆ Found in Text Mining only
Osteopetrosis	Osteopetrosis	Pubtator	26178921	Associate	★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	BEFREE	29203636		★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	Pubtator	30056508, 38364892	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	19502791	Associate	★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	27981472		★☆☆☆☆ Found in Text Mining only
Phenylketonurias	Phenylketonuria	BEFREE	31284588		★☆☆☆☆ Found in Text Mining only
Pick Disease of the Brain	Pica	BEFREE	26112410		★☆☆☆☆ Found in Text Mining only
Pituitary Diseases	Pituitary Diseases	BEFREE	25524009		★☆☆☆☆ Found in Text Mining only
Precursor Cell Lymphoblastic Leukemia Lymphoma	Lymphoblastic Leukemia	BEFREE	1612589		★☆☆☆☆ Found in Text Mining only
Primary immune deficiency disorder	immunodeficiency	BEFREE	24140114		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	LHGDN	18781579		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	20388792	Stimulate	★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	23699654, 24659479, 26056150	Associate	★☆☆☆☆ Found in Text Mining only
Psoriasiform eczema	Psoriasiform eczema	HPO_DG			★☆☆☆☆ Found in Text Mining only
Recurrent bronchitis	Bronchitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Recurrent otitis media	Otitis media	HPO_DG			★☆☆☆☆ Found in Text Mining only
Recurrent sinusitis	Sinusitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	29935727, 9523851		★☆☆☆☆ Found in Text Mining only
Rotator cuff syndrome	Rotator cuff syndrome	BEFREE	30518018		★☆☆☆☆ Found in Text Mining only
Secondary Adrenal Insufficiency	Adrenal Insufficiency	GENOMICS_ENGLAND_DG	25524009		★☆☆☆☆ Found in Text Mining only
Secondary Adrenal Insufficiency	Adrenal Insufficiency	BEFREE	27749582, 30953794		★☆☆☆☆ Found in Text Mining only
Secondary Adrenal Insufficiency	Adrenal Insufficiency	HPO_DG			★☆☆☆☆ Found in Text Mining only
Severe Combined Immunodeficiency	Severe combined immunodeficiency	Pubtator	25205549	Associate	★☆☆☆☆ Found in Text Mining only
Sezary Syndrome	Sezary syndrome	Pubtator	27039262	Associate	★☆☆☆☆ Found in Text Mining only
Skin Erosion	Skin Erosion	BEFREE	19770515		★☆☆☆☆ Found in Text Mining only
Sleep Deprivation	Sleep deprivation	Pubtator	26336034	Associate	★☆☆☆☆ Found in Text Mining only
Sleep Disorders	Sleep Disorders	BEFREE	24012192		★☆☆☆☆ Found in Text Mining only
Somatotropin deficiency	Somatotropin Deficiency	HPO_DG			★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	15753984		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	33843442	Associate	★☆☆☆☆ Found in Text Mining only
T-Cell Lymphoma	T-Cell Lymphoma	BEFREE	14576816, 8208540		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	29801480		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	39278618	Associate	★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	25369740	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	31128029	Stimulate	★☆☆☆☆ Found in Text Mining only
Uveal melanoma	Uveal Melanoma	BEFREE	31612319		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Uveal melanoma	Pubtator	31612319	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Vasculitis	Vasculitis	HPO_DG			★☆☆☆☆ Found in Text Mining only