IL2RG (interleukin 2 receptor subunit gamma)

Gene

• Entrez ID: 3561
• Gene name: Interleukin 2 receptor subunit gamma
• Gene symbol: IL2RG
• Synonyms (NCBI Gene): CD132, CIDX, IL-2RG, IMD4, P64, SCIDX, SCIDX1
• Chromosome: X
• Chromosome location: Xq13.1
• Summary: The protein encoded by this gene is an important signaling component of many interleukin receptors, including those of interleukin -2, -4, -7 and -21, and is thus referred to as the common gamma chain. Mutations in this gene cause X-linked severe combined

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs111033618	G>A	Pathogenic	Coding sequence variant, missense variant
rs111033619	A>T	Pathogenic	Coding sequence variant, stop gained
rs111033620	C>T	Pathogenic	Coding sequence variant, missense variant
rs111033621	A>T	Pathogenic	Coding sequence variant, missense variant
rs111033622	A>G	Pathogenic	Coding sequence variant, missense variant
rs137852507	T>A,G	Pathogenic	Coding sequence variant, stop gained, missense variant
rs137852511	A>G	Pathogenic	Coding sequence variant, missense variant
rs193922346	C>A	Likely-pathogenic, pathogenic	Splice acceptor variant
rs193922347	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs193922348	A>C,G	Pathogenic, pathogenic-likely-pathogenic	Missense variant, coding sequence variant
rs193922349	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs193922350	C>T	Likely-pathogenic	Coding sequence variant, stop gained
rs587776729	->CCAATGCTG	Pathogenic	Inframe insertion, coding sequence variant
rs775704953	G>A,T	Benign, pathogenic	Coding sequence variant, missense variant, stop gained
rs776710796	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs869320658	G>A	Pathogenic	Missense variant, coding sequence variant
rs869320659	G>A	Pathogenic	Missense variant, coding sequence variant
rs869320660	C>T	Pathogenic	Missense variant, coding sequence variant
rs879253742	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs886039387	T>C	Pathogenic	Intron variant
rs886041334	A>G	Pathogenic	Initiator codon variant, missense variant
rs1057517747	G>A	Pathogenic	Coding sequence variant, stop gained
rs1057517950	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1057520644	C>T	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs1057521062	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1064793153	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1064793338	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1131691652	G>A	Pathogenic	Coding sequence variant, stop gained
rs1556330234	C>T	Pathogenic	Stop gained, coding sequence variant
rs1556330249	G>A	Pathogenic	Stop gained, coding sequence variant
rs1556330286	G>C	Pathogenic	Stop gained, coding sequence variant
rs1556330552	G>A	Pathogenic	Stop gained, coding sequence variant
rs1556330562	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs1556330568	C>T	Pathogenic	Stop gained, coding sequence variant
rs1556330710	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs1556330713	G>A	Pathogenic	Stop gained, coding sequence variant
rs1556330755	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1556330940	->CAGA	Pathogenic	Frameshift variant, coding sequence variant
rs1556330963	->CATGT	Pathogenic	Stop gained, coding sequence variant, inframe indel
rs1556331272	C>A	Pathogenic	Stop gained, coding sequence variant
rs1569479994	C>T	Likely-pathogenic	Coding sequence variant, stop gained
rs1569480018	C>T	Pathogenic	Splice donor variant
rs1569480047	C>T	Pathogenic	Coding sequence variant, stop gained
rs1569480082	G>A	Likely-pathogenic	Coding sequence variant, stop gained
rs1602289183	CA>-	Pathogenic	Coding sequence variant, splice donor variant, intron variant
rs1602289411	G>A	Pathogenic	Coding sequence variant, stop gained
rs1602289631	->AGCA	Pathogenic	Coding sequence variant, inframe indel, stop gained
rs1602289649	A>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1602289943	C>-	Pathogenic	Coding sequence variant, frameshift variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT2015430	hsa-miR-4494	CLIP-seq
MIRT2015431	hsa-miR-4499	CLIP-seq
MIRT2015430	hsa-miR-4494	CLIP-seq
MIRT2015431	hsa-miR-4499	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
RXRA	Activation	12149223

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002335	Process	Mature B cell differentiation	IEA
GO:0002361	Process	CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation	IEA
GO:0002376	Process	Immune system process	IEA
GO:0002639	Process	Positive regulation of immunoglobulin production	IBA
GO:0004896	Function	Cytokine receptor activity	IBA
GO:0004896	Function	Cytokine receptor activity	IEA
GO:0004911	Function	Interleukin-2 receptor activity	TAS	8266076
GO:0004913	Function	Interleukin-4 receptor activity	TAS	8266078
GO:0004917	Function	Interleukin-7 receptor activity	TAS	8266077
GO:0005515	Function	Protein binding	IPI	8266077, 12504082, 25416956, 28514442, 31515488, 32296183, 33961781
GO:0005654	Component	Nucleoplasm	IDA
GO:0005768	Component	Endosome	TAS
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	IC	7973659
GO:0005886	Component	Plasma membrane	IDA	8128231, 8524310, 18829468
GO:0005886	Component	Plasma membrane	IDA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS	8514792
GO:0006955	Process	Immune response	TAS	8266078
GO:0007165	Process	Signal transduction	NAS	8266076
GO:0009897	Component	External side of plasma membrane	IBA
GO:0009897	Component	External side of plasma membrane	IEA
GO:0009897	Component	External side of plasma membrane	ISS
GO:0009986	Component	Cell surface	IDA	15123770
GO:0009986	Component	Cell surface	IEA
GO:0010467	Process	Gene expression	IEA
GO:0010468	Process	Regulation of gene expression	IEA
GO:0010628	Process	Positive regulation of gene expression	IEA
GO:0015026	Function	Coreceptor activity	IDA	7568005, 8026467, 8128231, 8624802, 18829468
GO:0016020	Component	Membrane	HDA	19946888
GO:0016020	Component	Membrane	IEA
GO:0019221	Process	Cytokine-mediated signaling pathway	IBA
GO:0019221	Process	Cytokine-mediated signaling pathway	IEA
GO:0019725	Process	Cellular homeostasis	IDA	35021100
GO:0019955	Function	Cytokine binding	IBA
GO:0019976	Function	Interleukin-2 binding	IEA
GO:0019976	Function	Interleukin-2 binding	ISS
GO:0030098	Process	Lymphocyte differentiation	IBA
GO:0030098	Process	Lymphocyte differentiation	IEA
GO:0030183	Process	B cell differentiation	IEA
GO:0032831	Process	Positive regulation of CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation	IEA
GO:0033077	Process	T cell differentiation in thymus	IEA
GO:0033089	Process	Positive regulation of T cell differentiation in thymus	IEA
GO:0035723	Process	Interleukin-15-mediated signaling pathway	IMP	15123770
GO:0035771	Process	Interleukin-4-mediated signaling pathway	IDA	17200144
GO:0038110	Process	Interleukin-2-mediated signaling pathway	IDA	7973659, 8631883
GO:0038110	Process	Interleukin-2-mediated signaling pathway	IDA	7568005
GO:0038111	Process	Interleukin-7-mediated signaling pathway	IDA	9182906, 20974963
GO:0038111	Process	Interleukin-7-mediated signaling pathway	IDA	8128231
GO:0038113	Process	Interleukin-9-mediated signaling pathway	IDA	10919676, 18829468
GO:0038113	Process	Interleukin-9-mediated signaling pathway	IDA	18829468
GO:0042010	Function	Interleukin-15 receptor activity	IDA	15123770
GO:0043235	Component	Receptor complex	IBA
GO:0045579	Process	Positive regulation of B cell differentiation	IEA
GO:0050766	Process	Positive regulation of phagocytosis	IMP	15123770

Other IDs

• MIM: 308380
• HGNC: 6010
• e!Ensembl: ENSG00000147168

Protein

• UniProt ID: P31785
• Protein name: Cytokine receptor common subunit gamma (Interleukin-2 receptor subunit gamma) (IL-2 receptor subunit gamma) (IL-2R subunit gamma) (IL-2RG) (gammaC) (p64) (CD antigen CD132)
• Protein function: Common subunit for the receptors for a variety of interleukins. Probably in association with IL15RA, involved in the stimulation of neutrophil phagocytosis by IL15 (PubMed:15123770).
• PDB: 2B5I, 2ERJ, 3BPL, 3QAZ, 3QB7, 4GS7, 5M5E, 6OEL, 7S2R, 8ENT, 8EPA, 9JQT
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF09240	IL6Ra-bind	59 → 151	Interleukin-6 receptor alpha chain, binding	Domain

• Sequence:

  MLKPSLPFTSLLFLQLPLLGVGLNTTILTPNGNEDTTADFFLTTMPTDSLSVSTLPLPEV
  QCFVFNVEYMNCTWNSSSEPQPTNLTLHYWYKNSDNDKVQKCSHYLFSEEITSGCQLQKK
  EIHLYQTFVVQLQDPREPRRQATQMLKLQNLVIPWAPENLTLHKLSESQLELNWNNRFLN
  HCLEHLVQYRTDWDHSWTEQSVDYRHKFSLPSVDGQKRYTFRVRSRFNPLCGSAQHWSEW
  SHPIHWGSNTSKENPFLFALEAVVISVGSMGLIISLLCVYFWLERTMPRIPTLKNLEDLV
  TEYHGNFSAWSGVSKGLAESLQPDYSERLCLVSEIPPKGGALGEGPGASPCNQHSPYWAP
  PCYTLKPET

• Sequence length: 369

Pathways

KEGG:

Cytokine-cytokine receptor interaction
Viral protein interaction with cytokine and cytokine receptor
Endocytosis
PI3K-Akt signaling pathway
JAK-STAT signaling pathway
Th1 and Th2 cell differentiation
Th17 cell differentiation
Measles
Human T-cell leukemia virus 1 infection
Pathways in cancer
Inflammatory bowel disease
Primary immunodeficiency

Reactome:

Interleukin-7 signaling
RAF/MAP kinase cascade
Interleukin-4 and Interleukin-13 signaling
Interleukin-15 signaling
Interleukin-9 signaling
Interleukin-2 signaling
Interleukin-21 signaling
Interleukin receptor SHC signaling

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
Combined immunodeficiency, X-linked	Pathogenic; Likely pathogenic	rs2092262300, rs2147751859, rs869320659, rs869320658, rs137852510, rs111033618, rs763359860, rs1057520644, rs1064793347, rs2092261313	RCV001329693 RCV002208750 RCV000763631 RCV000853368 RCV000010706 RCV000010710 RCV004577431 RCV001253325 RCV001090163 RCV001280968	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Nonpapillary renal cell carcinoma	Pathogenic	rs2147747293, rs111033617, rs1057520644	RCV005912619 RCV005887417 RCV005896247	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
SCID with features of gamma chain deficiency	Pathogenic	rs869320658	RCV006270230	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Thyroid cancer, nonmedullary, 1	Pathogenic	rs1556329822	RCV005896752	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
X-linked severe combined immunodeficiency	Likely pathogenic; Pathogenic	rs2147748189, rs2092262300, rs141707292, rs2147747293, rs2147748142, rs1569479913, rs2147749578, rs2147750359, rs1602289649, rs2147751144, rs2147751146, rs2147747509, rs2147750252, rs2147751090, rs2147747375, rs2147746685, rs2147751762, rs2147748109, rs2147749701, rs1556330755, rs2147750311, rs2147751760, rs2147751892, rs2147750927, rs2147750382, rs2147746826, rs2147751877, rs2147748344, rs1064794027, rs2147748363, rs2147751859, rs2092262517, rs2147746709, rs2519648777, rs2519646713, rs2519645536, rs2519646730, rs2519647922, rs2519646723, rs2519646609, rs2521700334, rs2519645571, rs2519646504, rs2519647063, rs2519647139, rs2521702130, rs2519648050, rs2519648782, rs2519648692, rs2521703323, rs869320660, rs869320659, rs869320658, rs2519645580, rs879253742, rs137852507, rs137852509, rs111033619, rs111033620, rs1569480018, rs111033621, rs137852510, rs587776729, rs111033622, rs111033617, rs111033618, rs886042051, rs886041333, rs2519646510, rs2519646646, rs2519647207, rs2519648083, rs2519647217, rs775127703, rs2519647893, rs2521702222, rs2092260728, rs1057517747, rs1057521062, rs1057520644, rs1064793347, rs1556330713, rs193922346, rs193922347, rs193922348, rs193922349, rs193922350, rs137852508, rs1556330234, rs1556329779, rs1556330552, rs1556329822, rs1556330286, rs1556331272, rs775704953, rs1556330249, rs1556330562, rs1556330568, rs1569480047, rs1602289943, rs1569479994, rs1569480082, rs1602288051, rs1602289411, rs1602289183, rs1602289631, rs2092261618, rs2092260520, rs1282558220, rs2092262555, rs2092255386, rs2092258288, rs2092260648, rs2092261347, rs2092261313	RCV001594437 RCV001863206 RCV001348578 RCV001379603 RCV001379604 RCV001379605 RCV001377899 RCV001378640 RCV001377072 RCV001379508 RCV001377945 RCV001388678 RCV001381311 RCV001387994 RCV003509672 RCV001644553 RCV004765357 RCV001920479 RCV001867248 RCV001969652 RCV002044749 RCV001867748 RCV002007327 RCV001899190 RCV001878969 RCV001958614 RCV001956149 RCV001959188 RCV001966612 RCV001866960 RCV002208750 RCV002222990 RCV002250055 RCV002284056 RCV002306639 RCV002308064 RCV002308169 RCV002309026 RCV002309463 RCV002310211 RCV003050620 RCV003041453 RCV003041454 RCV003041455 RCV002848360 RCV002880974 RCV003032081 RCV003022585 RCV003057666 RCV003055625 RCV000210841 RCV000210834 RCV000210828 RCV003150601 RCV003150603 RCV000234914 RCV000010699 RCV000010701 RCV000010702 RCV000010703 RCV000010704 RCV000010705 RCV001038281 RCV000010707 RCV000010708 RCV000010709 RCV001383439 RCV000553796 RCV003401224 RCV003509865 RCV003509056 RCV003509057 RCV003509059 RCV003510264 RCV003510966 RCV003510334 RCV003622814 RCV003622202 RCV003991493 RCV001251321 RCV001235346 RCV000638843 RCV000586219 RCV003485588 RCV000990859 RCV000030053 RCV000030054 RCV000030055 RCV000030056 RCV000030057 RCV000030058 RCV000538891 RCV000554205 RCV000556829 RCV000550914 RCV000531954 RCV000525527 RCV000536305 RCV003509571 RCV001192507 RCV000638841 RCV000638840 RCV000686497 RCV000690121 RCV000824674 RCV000766121 RCV000781480 RCV000781479 RCV004765338 RCV000815773 RCV000804431 RCV000797103 RCV001041771 RCV001063995 RCV001223070 RCV001211090 RCV001213477 RCV001218893 RCV001236093 RCV001231054 RCV001236375 RCV001260353 RCV001280968	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Cervical cancer	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC SCHIZOPHRENIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMBINED IMMUNODEFICIENCY DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IL2RG-related disorder	Likely benign; Uncertain significance; Benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS, EXPERIMENTAL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OMENN SYNDROME	—	Disgenet, GenCC, Orphanet Disgenet, GenCC, Orphanet Disgenet, GenCC, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEVERE COMBINED IMMUNODEFICIENCY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED	—	HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEZARY SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
X-LINKED COMBINED IMMUNODEFICIENCY DISEASES	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute monocytic leukemia	Monocytic Leukemia	BEFREE	11924909		★☆☆☆☆ Found in Text Mining only
Adenosine deaminase deficiency	Adenosine Deaminase Deficiency	BEFREE	31589898, 31826240		★☆☆☆☆ Found in Text Mining only
Adrenoleukodystrophy	Adrenoleukodystrophy	Pubtator	32072341	Associate	★☆☆☆☆ Found in Text Mining only
Adult T-Cell Lymphoma/Leukemia	T-Cell Lymphoma/Leukemia	BEFREE	12225394		★☆☆☆☆ Found in Text Mining only
Agammaglobulinemia	Agammaglobulinemia	Pubtator	33959125	Associate	★☆☆☆☆ Found in Text Mining only
Agammaglobulinemia	Agammaglobulinemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Age related macular degeneration	Age-related macular degeneration	BEFREE	9743540		★☆☆☆☆ Found in Text Mining only
Alopecia	Alopecia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ankylosing spondylitis	Ankylosing Spondylitis	BEFREE	24397353		★☆☆☆☆ Found in Text Mining only
Arthritis Reactive	Reactive arthritis	Pubtator	32072341	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	17257224	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	24397353	Stimulate	★☆☆☆☆ Found in Text Mining only
Ataxia Telangiectasia	Ataxia Telangiectasia	BEFREE	26536348		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	16264332, 24406074		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune disease	Pubtator	24406074, 31110501	Associate	★☆☆☆☆ Found in Text Mining only
Bone Diseases Metabolic	Bone disease	Pubtator	25565391	Associate	★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain Neoplasms	BEFREE	10728667		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	29685151	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Adenoid Cystic	Adenoid cystic carcinoma	Pubtator	22382400	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	10388747, 22363690, 37908350, 39233640, 9242704	Associate	★☆☆☆☆ Found in Text Mining only
Carcinomatosis of peritoneal cavity	Peritoneal Carcinomatosis	BEFREE	23382683		★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Dilated	Dilated cardiomyopathy	Pubtator	36733486	Associate	★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	Pubtator	10914683, 18926820, 19262743, 24287181	Associate	★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	BEFREE	11904153		★☆☆☆☆ Found in Text Mining only
CATARACT, COPPOCK-LIKE	Cataract	BEFREE	15322286		★☆☆☆☆ Found in Text Mining only
Cataract, Zonular Pulverulent 1	Cataract	BEFREE	17122105		★☆☆☆☆ Found in Text Mining only
Chagas Cardiomyopathy	Chagas cardiomyopathy	Pubtator	17635814	Associate	★☆☆☆☆ Found in Text Mining only
Childhood Acute Myeloid Leukemia	Acute Myeloid Leukemia	BEFREE	22383738		★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	11924909		★☆☆☆☆ Found in Text Mining only
Chronic schizophrenia	Schizophrenia	BEFREE	24713359		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic schizophrenia	Schizophrenia	PSYGENET_DG	24713359		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colitis Ulcerative	Ulcerative colitis	Pubtator	34353876	Associate	★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	24798995		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	16334444		★☆☆☆☆ Found in Text Mining only
Combined immunodeficiency	Severe combined immunodeficiency disease	BEFREE	23403317, 26407811, 30850927		★☆☆☆☆ Found in Text Mining only
Combined immunodeficiency	Severe combined immunodeficiency disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cone Dystrophy	Cone Dystrophy	BEFREE	9743540		★☆☆☆☆ Found in Text Mining only
Congenital cataract	Congenital Cataract	BEFREE	15322286, 17122105, 19390652		★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of thymus	Congenital Hypoplasia Of Thymus	BEFREE	29593714		★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of thymus	Congenital Hypoplasia Of Thymus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital lamellar cataract	Congenital Cataract	BEFREE	17122105		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn disease	Pubtator	22128034, 40248067	Associate	★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn disease	Pubtator	40182599	Inhibit	★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic fibrosis	Pubtator	30177416	Associate	★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	24397353		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 1	Diabetes mellitus, type 1	Pubtator	31110501	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	26271466	Associate	★☆☆☆☆ Found in Text Mining only
Dysgammaglobulinemia	Dysfibrinogenemia	Pubtator	35052377	Associate	★☆☆☆☆ Found in Text Mining only
Eczema	Eczema	Pubtator	34248995	Associate	★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	Pubtator	16759924	Associate	★☆☆☆☆ Found in Text Mining only
Eosinophilia	Eosinophilia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Exfoliative dermatitis	Exfoliative Dermatitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	30152087	Associate	★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	30152087	Associate	★☆☆☆☆ Found in Text Mining only
Graft vs Host Disease	Graft-versus-host disease	Pubtator	26444081	Associate	★☆☆☆☆ Found in Text Mining only
Graft-vs-Host Disease	Graft-Vs-Host Disease	BEFREE	17000688, 26444081		★☆☆☆☆ Found in Text Mining only
Granulomatous Disease Chronic	Granulomatous disease	Pubtator	24406074	Associate	★☆☆☆☆ Found in Text Mining only
Growth Disorders	Growth disorder	Pubtator	19189700	Associate	★☆☆☆☆ Found in Text Mining only
Hashimoto Disease	Hashimoto disease	Pubtator	11045564, 32603365	Associate	★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	17635814	Associate	★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	Pubtator	31615064	Inhibit	★☆☆☆☆ Found in Text Mining only
Hypofibrinogenemia	Hypofibrinogenemia	BEFREE	20580674		★☆☆☆☆ Found in Text Mining only
Hypothyroidism	Hypothyroidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Immune System Diseases	Immune system disease	Pubtator	11961146, 17827065, 37325673	Associate	★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	BEFREE	15982344, 16112740, 17000688, 18563383, 20031388, 20596827, 22551777, 23382683, 23755121, 24607601, 24798995, 24862967, 27118081, 28782456, 29688994		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory bowel disease	Pubtator	37461086	Associate	★☆☆☆☆ Found in Text Mining only
Insulin-dependent diabetes mellitus secretory diarrhea syndrome	Insulin-Dependent Diabetes Mellitus Secretory Diarrhea Syndrome	BEFREE	24619149		★☆☆☆☆ Found in Text Mining only
Intracranial Aneurysm	Intracranial Aneurysm	BEFREE	28236050, 28488025, 31399749		★☆☆☆☆ Found in Text Mining only
Juvenile Myelomonocytic Leukemia	Myelomonocytic Leukemia	BEFREE	15982344		★☆☆☆☆ Found in Text Mining only
Kidney Failure, Acute	Kidney Failure	BEFREE	16864781		★☆☆☆☆ Found in Text Mining only
Laryngeal Neoplasms	Laryngeal neoplasm	Pubtator	36033826	Associate	★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	LHGDN	11856346		★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	12070011, 16988659, 21593192, 22383738, 25220211		★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid	Myeloid leukemia	Pubtator	33110919	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, T-Cell	T-cell leukemia	BEFREE	11924909, 12225394, 19461887		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	17257224	Associate	★☆☆☆☆ Found in Text Mining only
Lymphohistiocytosis Hemophagocytic	Hemophagocytic lymphohistiocytosis	Pubtator	10792291, 32993535	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	Pubtator	15811959	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	19337236		★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Lymphoma, Non-Hodgkin	Non-Hodgkin lymphoma	BEFREE	11924909		★☆☆☆☆ Found in Text Mining only
Lymphoma, T-Cell, Cutaneous	Lymphoma	BEFREE	27329723		★☆☆☆☆ Found in Text Mining only
Lymphopenia	Lymphopenia	BEFREE	15702055, 18728247, 28770187		★☆☆☆☆ Found in Text Mining only
Lymphoproliferative Disorders	Lymphoproliferative Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Macular dystrophy	Macular dystrophy	BEFREE	9743540		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	22737248, 24513265, 24825865		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	24798995		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	20596026		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	34159752	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	22419581		★☆☆☆☆ Found in Text Mining only
Necrosis	Necrosis	Pubtator	11902333	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	11810184, 16108827, 16864781, 19461887, 24798995, 6513926		★☆☆☆☆ Found in Text Mining only
Nephrotic Syndrome	Nephrotic Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Omenn Syndrome	Omenn Syndrome	BEFREE	22664165, 31456262		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Omenn Syndrome	Omenn Syndrome	GENOMICS_ENGLAND_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Omenn Syndrome	Omenn Syndrome	ORPHANET_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Omenn syndrome	Omenn Syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Otitis Media	Otitis media	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	37841886	Associate	★☆☆☆☆ Found in Text Mining only
Periodontitis	Periodontitis	Pubtator	36438900	Associate	★☆☆☆☆ Found in Text Mining only
Peripheral T-Cell Lymphoma	T-Cell Lymphoma	BEFREE	31545408		★☆☆☆☆ Found in Text Mining only
Precursor B-cell lymphoblastic leukemia	Lymphoblastic Leukemia	BEFREE	11924909		★☆☆☆☆ Found in Text Mining only
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma	Lymphoblastic Leukemia	BEFREE	15590396, 16988660, 17726455, 21593192		★☆☆☆☆ Found in Text Mining only
Primary immune deficiency disorder	immunodeficiency	BEFREE	28552805		★☆☆☆☆ Found in Text Mining only
Progressive hearing loss stapes fixation	Hearing loss with stapes fixation	Pubtator	37461086	Associate	★☆☆☆☆ Found in Text Mining only
Recurrent bronchitis	Bronchitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal Diseases	BEFREE	9743540		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	24397353		★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	BEFREE	20031388		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	24713359		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	PSYGENET_DG	24713359		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Severe Combined Immunodeficiency	Severe combined immunodeficiency	Pubtator	11961146, 12435740, 15831699, 17827065, 18559672, 19414857, 20149240, 26076747, 26547715, 28109013, 29728406, 30261899, 32265901, 32265911, 32754152, 33959125, 3478714, 35303369, 7668284, 7860773, 8317482, 8781427, 8916956, 9058718, 9446656, 9753072	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Severe Combined Immunodeficiency	Severe combined immunodeficiency disease	BEFREE	15207958, 16227049, 16601912, 19089604, 19628217, 22419581, 22551777, 22704516, 22981234, 24771849, 2565084, 26076747, 26547715, 27118081, 28209722, 28552805, 29593714, 29728406, 29939941, 30261899, 30903457, 31024866, 31799703, 3478714, 7668284, 7860773, 7937790, 8401490, 8956936, 9049783, 9058718, 9150730, 9150740, 9921912		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Severe Combined Immunodeficiency	Severe combined immunodeficiency disease	LHGDN	15702055		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Severe Combined Immunodeficiency	Severe combined immunodeficiency disease	GENOMICS_ENGLAND_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Severe Combined Immunodeficiency	Severe combined immunodeficiency disease	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Severe Combined Immunodeficiency	Severe combined immunodeficiency disease	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Severe combined immunodeficiency due to adenosine deaminase deficiency	Severe combined immunodeficiency disease	BEFREE	31589898, 31826240		★☆☆☆☆ Found in Text Mining only
Severe combined immunodeficiency, atypical	Severe combined immunodeficiency disease	BEFREE	25042067		★☆☆☆☆ Found in Text Mining only
Sezary Syndrome	Sezary Syndrome	CTD_human_DG	26551670		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sezary Syndrome	Sezary syndrome	Pubtator	26551670	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sinusitis	Sinusitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sjogren's Syndrome	Sjogren syndrome	Pubtator	34349764	Associate	★☆☆☆☆ Found in Text Mining only
Skin Neoplasms	Skin neoplasm	Pubtator	32681206	Associate	★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	33232279	Associate	★☆☆☆☆ Found in Text Mining only
T-B+ severe combined immunodeficiency due to gamma chain deficiency	Severe combined immunodeficiency disease	Orphanet			★☆☆☆☆ Found in Text Mining only
T-Cell Lymphoma	T-Cell Lymphoma	LHGDN	11856346		★☆☆☆☆ Found in Text Mining only
T-Cell Lymphoma	T-Cell Lymphoma	BEFREE	16641981		★☆☆☆☆ Found in Text Mining only
T-Cell Prolymphocytic Leukemia	T-Cell Prolymphocytic Leukemia	BEFREE	24825865		★☆☆☆☆ Found in Text Mining only
Thyroiditis	Thyroiditis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	24980552		★☆☆☆☆ Found in Text Mining only
West Syndrome	West Syndrome	BEFREE	24534054		★☆☆☆☆ Found in Text Mining only
Wiskott-Aldrich Syndrome	Wiskott-Aldrich Syndrome	BEFREE	24619149		★☆☆☆☆ Found in Text Mining only
X-linked agammaglobulinemia	Agammaglobulinemia, X-Linked	BEFREE	3478714		★☆☆☆☆ Found in Text Mining only
X-Linked Combined Immunodeficiency Diseases	Combined Immunodeficiency, X-Linked	BEFREE	10794430, 10807771, 10887198, 11129345, 11319919, 11426455, 11902333, 12446913, 15108287, 1550118, 15546386, 15640693, 16293754, 16775349, 16864781, 17082603, 17369490, 17456723, 17464421, 18688285, 18728247, 19234229, 19286997, 19461887, 21865537, 21889323, 22460439, 22551777, 23403317, 23990961, 24870228, 25042067, 2565084, 26125817, 26444081, 26547715, 27566612, 28552805, 28963568, 29162766, 29606506, 29620683, 29707600, 29948574, 31801915, 7557965, 7668284, 7860773, 8070818, 8401490, 8462096, 8522327, 8663060, 8717512, 9049783, 9058718, 9150730, 9633906, 9716584, 9797872, 9834214, 9843216, 9885222		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
X-Linked Combined Immunodeficiency Diseases	Combined Immunodeficiency, X-Linked	CLINVAR_DG	10794430, 11129345, 11213805, 14966353, 16760466, 17598841, 18641513, 21184155, 2169613, 22039266, 23683512, 24534054, 25869287, 28747913, 7632950, 7668284, 8088810, 8961626, 9058718		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
X-Linked Combined Immunodeficiency Diseases	Combined Immunodeficiency, X-Linked	LHGDN	17082603		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
X-Linked Combined Immunodeficiency Diseases	Combined Immunodeficiency, X-Linked	UNIPROT_DG	7557965, 7668284, 7860773, 7883965, 7937790, 8027558, 8088810, 8299698, 8401490, 8900089, 9049783, 9150740, 9399950		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
X-Linked Combined Immunodeficiency Diseases	Combined Immunodeficiency, X-Linked	ORPHANET_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
X-Linked Combined Immunodeficiency Diseases	Combined Immunodeficiency, X-Linked	GENOMICS_ENGLAND_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
X-Linked Combined Immunodeficiency Diseases	Combined Immunodeficiency, X-Linked	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
X-Linked Lymphoproliferative Disorder	Lymphoproliferative Syndrome, X-Linked	BEFREE	24619149		★☆☆☆☆ Found in Text Mining only
Young Syndrome	Young syndrome	Pubtator	34248995	Associate	★☆☆☆☆ Found in Text Mining only