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

Gene Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	5896
Gene name Gene Name - the full gene name approved by the HGNC.	Recombination activating 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	RAG1
Synonyms (NCBI Gene) Gene synonyms aliases	RAG-1, RNF74
Chromosome Chromosome number	11
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	11p12
Summary Summary of gene provided in NCBI Entrez Gene.	The protein encoded by this gene is involved in activation of immunoglobulin V-D-J recombination. The encoded protein is involved in recognition of the DNA substrate, but stable binding and cleavage activity also requires RAG2. Defects in this gene can be

Show/Hide all(66)

SNP ID	Visualize variation	Clinical significance	Consequence
rs28933392	G>A	Pathogenic	Coding sequence variant, missense variant
rs104894282	G>A,T	Pathogenic	Missense variant, coding sequence variant, stop gained
rs104894283	T>G	Pathogenic	Coding sequence variant, stop gained
rs104894284	G>A	Pathogenic	Missense variant, coding sequence variant
rs104894285	C>T	Pathogenic	Missense variant, coding sequence variant
rs104894286	G>A	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs104894287	C>G,T	Pathogenic	Missense variant, coding sequence variant
rs104894288	A>C	Pathogenic	Missense variant, coding sequence variant
rs104894289	C>T	Pathogenic	Missense variant, coding sequence variant
rs104894290	A>G	Pathogenic	Missense variant, coding sequence variant
rs104894291	G>A,T	Pathogenic, not-provided	Missense variant, coding sequence variant
rs104894292	A>G,T	Pathogenic	Missense variant, coding sequence variant
rs104894298	C>T	Pathogenic	Missense variant, coding sequence variant
rs121918568	C>T	Pathogenic	Coding sequence variant, missense variant
rs121918569	G>A	Pathogenic	Coding sequence variant, missense variant
rs121918570	C>T	Uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs121918571	G>A	Pathogenic	Coding sequence variant, missense variant
rs121918572	C>T	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs141524540	A>G	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs146457887	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs149229197	G>T	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs150739647	G>A,C	Pathogenic	Missense variant, coding sequence variant
rs193922461	G>T	Pathogenic, pathogenic-likely-pathogenic	Coding sequence variant, missense variant
rs193922462	C>T	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs193922463	C>A,G	Likely-pathogenic	Coding sequence variant, missense variant
rs193922464	C>G,T	Pathogenic, likely-pathogenic	Stop gained, coding sequence variant, missense variant
rs199474676	C>T	Likely-pathogenic, not-provided	Coding sequence variant, missense variant
rs199474680	G>A	Pathogenic, not-provided	Coding sequence variant, missense variant
rs199474684	G>A	Pathogenic, not-provided	Coding sequence variant, missense variant
rs199474685	C>T	Pathogenic, not-provided	Coding sequence variant, missense variant
rs199474686	G>A	Pathogenic, not-provided	Coding sequence variant, missense variant
rs199474690	A>G,T	Likely-pathogenic, not-provided	Coding sequence variant, missense variant
rs539590514	A>G	Pathogenic	Missense variant, coding sequence variant
rs568867325	C>G,T	Pathogenic	Coding sequence variant, missense variant, stop gained
rs749223640	G>A	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs752020152	C>A,G,T	Pathogenic	Synonymous variant, coding sequence variant, missense variant
rs754502950	C>G	Pathogenic, likely-pathogenic	Stop gained, coding sequence variant
rs755551812	A>T	Likely-pathogenic	Stop gained, coding sequence variant
rs757797994	C>T	Pathogenic	Coding sequence variant, stop gained
rs764981110	C>T	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs768860215	G>T	Likely-pathogenic	Coding sequence variant, missense variant
rs772340017	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs772962160	AA>-	Pathogenic	Coding sequence variant, frameshift variant
rs773929270	C>T	Pathogenic	Coding sequence variant, stop gained
rs775412266	A>G	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs786205615	G>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs878853004	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs878853031	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs886041745	->A	Pathogenic, benign	Frameshift variant, coding sequence variant
rs902350422	T>A	Pathogenic	Coding sequence variant, stop gained
rs1064793248	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1064793249	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1241698978	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1554944856	G>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1564988767	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1564988958	A>G	Pathogenic	Coding sequence variant, missense variant
rs1564989420	G>C	Pathogenic	Coding sequence variant, missense variant
rs1564989455	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1564989610	G>C	Pathogenic	Coding sequence variant, missense variant
rs1564989655	T>C	Pathogenic	Coding sequence variant, missense variant
rs1590701881	TGATGAGC>-	Pathogenic	Coding sequence variant, frameshift variant
rs1590702629	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1590702729	GTCTTGAATTCCCTGATGGTGAAATGTC>AAAAGAGTG	Pathogenic	Coding sequence variant, frameshift variant
rs1590702874	C>T	Pathogenic	Coding sequence variant, missense variant
rs1590703275	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1590703740	A>C	Likely-pathogenic	Coding sequence variant, missense variant

Show/Hide all(135)

miRTarBase ID	miRNA	Experiments	Reference
MIRT045071	hsa-miR-186-5p	CLASH	23622248
MIRT530853	hsa-miR-519a-3p	HITS-CLIP	19536157
MIRT530852	hsa-miR-519b-3p	HITS-CLIP	19536157
MIRT530851	hsa-miR-519c-3p	HITS-CLIP	19536157
MIRT530850	hsa-miR-130a-3p	HITS-CLIP	19536157
MIRT530849	hsa-miR-130b-3p	HITS-CLIP	19536157
MIRT530848	hsa-miR-301a-3p	HITS-CLIP	19536157
MIRT530847	hsa-miR-301b-3p	HITS-CLIP	19536157
MIRT530846	hsa-miR-3666	HITS-CLIP	19536157
MIRT530845	hsa-miR-4295	HITS-CLIP	19536157
MIRT530844	hsa-miR-454-3p	HITS-CLIP	19536157
MIRT530843	hsa-miR-1283	HITS-CLIP	19536157
MIRT530842	hsa-miR-4795-5p	HITS-CLIP	19536157
MIRT530841	hsa-miR-3616-5p	HITS-CLIP	19536157
MIRT530840	hsa-miR-573	HITS-CLIP	19536157
MIRT545107	hsa-miR-6771-3p	PAR-CLIP	21572407
MIRT545108	hsa-miR-4694-3p	PAR-CLIP	21572407
MIRT545106	hsa-miR-105-5p	PAR-CLIP	21572407
MIRT545105	hsa-miR-7853-5p	PAR-CLIP	21572407
MIRT545104	hsa-miR-4729	PAR-CLIP	21572407
MIRT545103	hsa-miR-5696	PAR-CLIP	21572407
MIRT530855	hsa-miR-548av-3p	PAR-CLIP	22012620
MIRT530854	hsa-miR-548g-3p	PAR-CLIP	22012620
MIRT530853	hsa-miR-519a-3p	PAR-CLIP	22012620
MIRT530852	hsa-miR-519b-3p	PAR-CLIP	22012620
MIRT530851	hsa-miR-519c-3p	PAR-CLIP	22012620
MIRT530850	hsa-miR-130a-3p	PAR-CLIP	22012620
MIRT530849	hsa-miR-130b-3p	PAR-CLIP	22012620
MIRT530848	hsa-miR-301a-3p	PAR-CLIP	22012620
MIRT530847	hsa-miR-301b-3p	PAR-CLIP	22012620
MIRT530846	hsa-miR-3666	PAR-CLIP	22012620
MIRT530845	hsa-miR-4295	PAR-CLIP	22012620
MIRT530844	hsa-miR-454-3p	PAR-CLIP	22012620
MIRT530843	hsa-miR-1283	PAR-CLIP	22012620
MIRT530842	hsa-miR-4795-5p	PAR-CLIP	22012620
MIRT530841	hsa-miR-3616-5p	PAR-CLIP	22012620
MIRT530840	hsa-miR-573	PAR-CLIP	22012620
MIRT530853	hsa-miR-519a-3p	HITS-CLIP	19536157
MIRT530852	hsa-miR-519b-3p	HITS-CLIP	19536157
MIRT530851	hsa-miR-519c-3p	HITS-CLIP	19536157
MIRT530850	hsa-miR-130a-3p	HITS-CLIP	19536157
MIRT530849	hsa-miR-130b-3p	HITS-CLIP	19536157
MIRT530848	hsa-miR-301a-3p	HITS-CLIP	19536157
MIRT530847	hsa-miR-301b-3p	HITS-CLIP	19536157
MIRT530846	hsa-miR-3666	HITS-CLIP	19536157
MIRT530845	hsa-miR-4295	HITS-CLIP	19536157
MIRT530844	hsa-miR-454-3p	HITS-CLIP	19536157
MIRT530843	hsa-miR-1283	HITS-CLIP	19536157
MIRT530842	hsa-miR-4795-5p	HITS-CLIP	19536157
MIRT530841	hsa-miR-3616-5p	HITS-CLIP	19536157
MIRT530840	hsa-miR-573	HITS-CLIP	19536157
MIRT545107	hsa-miR-6771-3p	PAR-CLIP	21572407
MIRT545108	hsa-miR-4694-3p	PAR-CLIP	21572407
MIRT545106	hsa-miR-105-5p	PAR-CLIP	21572407
MIRT545105	hsa-miR-7853-5p	PAR-CLIP	21572407
MIRT545104	hsa-miR-4729	PAR-CLIP	21572407
MIRT545103	hsa-miR-5696	PAR-CLIP	21572407
MIRT530855	hsa-miR-548av-3p	PAR-CLIP	22012620
MIRT530854	hsa-miR-548g-3p	PAR-CLIP	22012620
MIRT530853	hsa-miR-519a-3p	PAR-CLIP	22012620
MIRT530852	hsa-miR-519b-3p	PAR-CLIP	22012620
MIRT530851	hsa-miR-519c-3p	PAR-CLIP	22012620
MIRT530850	hsa-miR-130a-3p	PAR-CLIP	22012620
MIRT530849	hsa-miR-130b-3p	PAR-CLIP	22012620
MIRT530848	hsa-miR-301a-3p	PAR-CLIP	22012620
MIRT530847	hsa-miR-301b-3p	PAR-CLIP	22012620
MIRT530846	hsa-miR-3666	PAR-CLIP	22012620
MIRT530845	hsa-miR-4295	PAR-CLIP	22012620
MIRT530844	hsa-miR-454-3p	PAR-CLIP	22012620
MIRT530843	hsa-miR-1283	PAR-CLIP	22012620
MIRT530842	hsa-miR-4795-5p	PAR-CLIP	22012620
MIRT530841	hsa-miR-3616-5p	PAR-CLIP	22012620
MIRT530840	hsa-miR-573	PAR-CLIP	22012620
MIRT1288389	hsa-let-7a	CLIP-seq
MIRT1288390	hsa-let-7b	CLIP-seq
MIRT1288391	hsa-let-7c	CLIP-seq
MIRT1288392	hsa-let-7d	CLIP-seq
MIRT1288393	hsa-let-7e	CLIP-seq
MIRT1288394	hsa-let-7f	CLIP-seq
MIRT1288395	hsa-let-7g	CLIP-seq
MIRT1288396	hsa-let-7i	CLIP-seq
MIRT1288397	hsa-miR-202	CLIP-seq
MIRT1288398	hsa-miR-3145-5p	CLIP-seq
MIRT1288399	hsa-miR-3182	CLIP-seq
MIRT1288400	hsa-miR-3668	CLIP-seq
MIRT1288401	hsa-miR-3924	CLIP-seq
MIRT1288402	hsa-miR-4303	CLIP-seq
MIRT1288403	hsa-miR-4317	CLIP-seq
MIRT1288404	hsa-miR-432	CLIP-seq
MIRT1288405	hsa-miR-4458	CLIP-seq
MIRT1288406	hsa-miR-4500	CLIP-seq
MIRT1288407	hsa-miR-4649-3p	CLIP-seq
MIRT1288408	hsa-miR-4714-3p	CLIP-seq
MIRT1288409	hsa-miR-4718	CLIP-seq
MIRT1288410	hsa-miR-4762-3p	CLIP-seq
MIRT1288411	hsa-miR-4763-5p	CLIP-seq
MIRT1288412	hsa-miR-4764-3p	CLIP-seq
MIRT1288413	hsa-miR-4766-5p	CLIP-seq
MIRT1288414	hsa-miR-508-5p	CLIP-seq
MIRT1288415	hsa-miR-548a-5p	CLIP-seq
MIRT1288416	hsa-miR-548ab	CLIP-seq
MIRT1288417	hsa-miR-548ak	CLIP-seq
MIRT1288418	hsa-miR-548b-5p	CLIP-seq
MIRT1288419	hsa-miR-548c-5p	CLIP-seq
MIRT1288420	hsa-miR-548d-5p	CLIP-seq
MIRT1288421	hsa-miR-548g	CLIP-seq
MIRT1288422	hsa-miR-548h	CLIP-seq
MIRT1288423	hsa-miR-548i	CLIP-seq
MIRT1288424	hsa-miR-548j	CLIP-seq
MIRT1288425	hsa-miR-548w	CLIP-seq
MIRT1288426	hsa-miR-548y	CLIP-seq
MIRT1288427	hsa-miR-559	CLIP-seq
MIRT1288428	hsa-miR-618	CLIP-seq
MIRT1288429	hsa-miR-98	CLIP-seq
MIRT2085484	hsa-miR-2467-3p	CLIP-seq
MIRT2085485	hsa-miR-3121-3p	CLIP-seq
MIRT2085486	hsa-miR-3617	CLIP-seq
MIRT2085487	hsa-miR-3678-3p	CLIP-seq
MIRT2085488	hsa-miR-3977	CLIP-seq
MIRT2085489	hsa-miR-4279	CLIP-seq
MIRT2085490	hsa-miR-641	CLIP-seq
MIRT2085491	hsa-miR-670	CLIP-seq
MIRT2310808	hsa-miR-1270	CLIP-seq
MIRT2310809	hsa-miR-3153	CLIP-seq
MIRT2310810	hsa-miR-421	CLIP-seq
MIRT1288404	hsa-miR-432	CLIP-seq
MIRT2310811	hsa-miR-4683	CLIP-seq
MIRT2310812	hsa-miR-4698	CLIP-seq
MIRT2310813	hsa-miR-4709-5p	CLIP-seq
MIRT2310814	hsa-miR-548c-3p	CLIP-seq
MIRT2310815	hsa-miR-620	CLIP-seq
MIRT2457702	hsa-miR-1279	CLIP-seq
MIRT2457703	hsa-miR-203	CLIP-seq
MIRT2607214	hsa-miR-1200	CLIP-seq
MIRT2607215	hsa-miR-3137	CLIP-seq

Transcription factors

Show/Hide all(3)

Transcription factor	Regulation	Reference
FOXO1	Unknown	21655267
FOXP1	Unknown	21655267
TCF3	Unknown	21655267

Show/Hide all(61)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002250	Process	Adaptive immune response	IBA
GO:0002250	Process	Adaptive immune response	IEA
GO:0002331	Process	Pre-B cell allelic exclusion	IBA
GO:0002331	Process	Pre-B cell allelic exclusion	IEA
GO:0002331	Process	Pre-B cell allelic exclusion	ISS
GO:0003677	Function	DNA binding	IEA
GO:0003677	Function	DNA binding	TAS	9630231
GO:0003824	Function	Catalytic activity	IEA
GO:0004518	Function	Nuclease activity	IEA
GO:0004519	Function	Endonuclease activity	IEA
GO:0004519	Function	Endonuclease activity	ISS
GO:0004842	Function	Ubiquitin-protein transferase activity	IEA
GO:0004842	Function	Ubiquitin-protein transferase activity	ISS
GO:0005515	Function	Protein binding	IPI	17474147
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	ISS
GO:0005654	Component	Nucleoplasm	IEA
GO:0005654	Component	Nucleoplasm	TAS
GO:0006310	Process	DNA recombination	IEA
GO:0006310	Process	DNA recombination	TAS	9630231
GO:0006325	Process	Chromatin organization	IEA
GO:0006955	Process	Immune response	IEA
GO:0006955	Process	Immune response	TAS	9630231
GO:0008270	Function	Zinc ion binding	IEA
GO:0008270	Function	Zinc ion binding	ISS
GO:0008542	Process	Visual learning	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0030183	Process	B cell differentiation	IEA
GO:0030183	Process	B cell differentiation	ISS
GO:0033077	Process	T cell differentiation in thymus	IEA
GO:0033077	Process	T cell differentiation in thymus	ISS
GO:0033151	Process	V(D)J recombination	IBA
GO:0033151	Process	V(D)J recombination	IEA
GO:0033151	Process	V(D)J recombination	IMP	14670978
GO:0033151	Process	V(D)J recombination	ISS
GO:0042393	Function	Histone binding	IEA
GO:0042393	Function	Histone binding	ISS
GO:0042802	Function	Identical protein binding	IEA
GO:0042803	Function	Protein homodimerization activity	IEA
GO:0042803	Function	Protein homodimerization activity	ISS
GO:0043029	Process	T cell homeostasis	IEA
GO:0043565	Function	Sequence-specific DNA binding	IBA
GO:0043565	Function	Sequence-specific DNA binding	IEA
GO:0043565	Function	Sequence-specific DNA binding	ISS
GO:0045580	Process	Regulation of T cell differentiation	IEA
GO:0045582	Process	Positive regulation of T cell differentiation	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0046872	Function	Metal ion binding	ISS
GO:0048538	Process	Thymus development	IEA
GO:0051865	Process	Protein autoubiquitination	IEA
GO:0051865	Process	Protein autoubiquitination	ISS
GO:0061630	Function	Ubiquitin protein ligase activity	IBA
GO:0061630	Function	Ubiquitin protein ligase activity	IEA
GO:0070233	Process	Negative regulation of T cell apoptotic process	IEA
GO:0070244	Process	Negative regulation of thymocyte apoptotic process	IEA
GO:0097519	Component	DNA recombinase complex	IBA
GO:1905347	Component	Endodeoxyribonuclease complex	IBA
GO:1990238	Function	Double-stranded DNA endonuclease activity	IBA
GO:2000822	Process	Regulation of behavioral fear response	IEA

MIM	HGNC	e!Ensembl
179615	9831	ENSG00000166349

Protein

UniProt ID

P15918

Protein name

V(D)J recombination-activating protein 1 (RAG-1) (RING finger protein 74) [Includes: Endonuclease RAG1 (EC 3.1.-.-); E3 ubiquitin-protein ligase RAG1 (EC 2.3.2.27) (RING-type E3 ubiquitin transferase RAG1)]

Protein function

Catalytic component of the RAG complex, a multiprotein complex that mediates the DNA cleavage phase during V(D)J recombination. V(D)J recombination assembles a diverse repertoire of immunoglobulin and T-cell receptor genes in developing B and T-

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF12560	RAG1_imp_bd	11 → 291	RAG1 importin binding	Family
PF13923	zf-C3HC4_2	292 → 331		Domain
PF10426	zf-RAG1	354 → 383	Recombination-activating protein 1 zinc-finger domain	Domain
PF12940	RAG1	384 → 1028	Recombination-activation protein 1 (RAG1), recombinase	Family

Tissue specificity

TISSUE SPECIFICITY: Maturing lymphoid cells.

Sequence

MAASFPPTLGLSSAPDEIQHPHIKFSEWKFKLFRVRSFEKTPEEAQKEKKDSFEGKPSLE
QSPAVLDKADGQKPVPTQPLLKAHPKFSKKFHDNEKARGKAIHQANLRHLCRICGNSFRA
DEHNRRYPVHGPVDGKTLGLLRKKEKRATSWPDLIAKVFRIDVKADVDSIHPTEFCHNCW
SIMHRKFSSAPCEVYFPRNVTMEWHPHTPSCDICNTARRGLKRKSLQPNLQLSKKLKTVL
DQARQARQHKRRAQARISSKDVMKKIANCSKIHLSTKLLAVDFPEHFVKSISCQICEHIL
ADPVETNCKHVFCRVCILRCLKVMGSYCPSCRYPCFPTDLESPVKSFLSVLNSLMVKCPA
KECNEEVSLEKYNHHISSHKESKEIFVHINKGGRPRQHLLSLTRRAQKHRLRELKLQVKA
FADKEEGGDVKSVCMTLFLLALRARNEHRQADELEAIMQGKGSGLQPAVCLAIRVNTFLS
CSQYHKMYRTVKAITGRQIFQPLHALRNAEKVLLPGYHHFEWQPPLKNVSSSTDVGIIDG
LSGLSSSVDDYPVDTIAKRFRYDSALVSALMDMEEDILEGMRSQDLDDYLNGPFTVVVKE
SCDGMGDVSEKHGSGPVVPEKAVRFSFTIMKITIAHSSQNVKVFEEAKPNSELCCKPLCL
MLADESDHETLTAILSPLIAEREAMKSSELMLELGGILRTFKFIFRGTGYDEKLVREVEG
LEASGSVYICTLCDATRLEASQNLVFHSITRSHAENLERYEVWRSNPYHESVEELRDRVK
GVSAKPFIETVPSIDALHCDIGNAAEFYKIFQLEIGEVYKNPNASKEERKRWQATLDKHL
RKKMNLKPIMRMNGNFARKLMTKETVDAVCELIPSEERHEALRELMDLYLKMKPVWRSSC
PAKECPESLCQYSFNSQRFAELLSTKFKYRYEGKITNYFHKTLAHVPEIIERDGSIGAWA
SEGNESGNKLFRRFRKMNARQSKCYEMEDVLKHHWLYTSKYLQKFMNAHNALKTSGFTMN
PQASLGDPLGIEDSLESQDSMEF

Sequence length

1043

Interactions

View interactions

	KEGG		Reactome
	FoxO signaling pathway Primary immunodeficiency		MAPK6/MAPK4 signaling

Show/Hide Causal Diseases (4)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
histiocytic medullary reticulosis	Histiocytic medullary reticulosis	rs104894291, rs104894292, rs199474684, rs1241698978, rs104894285, rs758288006, rs104894286, rs749256215, rs104894284, rs121918571, rs878853031, rs104894289, rs772962160, rs104894290	N/A
Immunodeficiency	Inherited Immunodeficiency Diseases	rs104894286	N/A
Severe combined immunodeficiency disease	severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-negative, nk cell-positive, combined immunodeficiency, Severe combined immunodeficiency, B cell-negative	rs1064793248, rs193922464, rs1241698978, rs104894285, rs199474685, rs991089005, rs28933392, rs199474681, rs104894282, rs104894283, rs786205615, rs121918572	N/A
severe combined immunodeficiency disease	Severe combined immunodeficiency disease	rs193922464, rs757797994, rs199474679, rs199474686, rs150739647, rs121918570	N/A

Show/Hide Unknown Diseases (2)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Cataract	Cataract 3 multiple types	N/A	N/A	ClinVar
Microcephaly	microcephaly	N/A	N/A	ClinVar

Show/Hide Text Mining Associations (66)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Arthritis Juvenile	Associate	16504994
Arthritis Rheumatoid	Associate	19404965
Ataxia Telangiectasia	Associate	18701881
Atelosteogenesis type 2	Associate	34425224
Autism Spectrum Disorder	Associate	35773312
Autoimmune Diseases	Associate	24122031, 24290284, 26186701, 30307608, 31388879, 34664192
BCG Infection Generalized Familial	Associate	22424479
Brain Diseases	Associate	24333136
Chronic recurrent multifocal osteomyelitis	Associate	24122031
Common Variable Immunodeficiency	Associate	24996264, 25516070, 26186701
Communicable Diseases	Associate	20846960
Congenital Hereditary and Neonatal Diseases and Abnormalities	Associate	30307608
Cytomegalovirus Infections	Associate	16276422
Disease	Inhibit	18299319
Disease	Associate	20846960
Eosinophilia	Associate	9630231
Evans Syndrome	Associate	30940614
Genetic Diseases Inborn	Associate	10606976, 24333136
Genetic Predisposition to Disease	Associate	11121059
Granuloma	Associate	18463379, 24122031
Granulomatous Disease Chronic	Associate	24122031, 33954879
Hematologic Diseases	Associate	16276422
Hepatitis B	Associate	11313270, 18701881
Immune Dysregulation Polyendocrinopathy Enteropathy X Linked Syndrome	Associate	33864888
Immune System Diseases	Associate	19898481, 27301863, 31388879, 36732712
Immunologic Deficiency Syndromes	Associate	16276422, 18463379, 24122031, 24666246, 25516070, 26186701, 30307608, 31388879, 31503426
Immunologic Deficiency Syndromes	Inhibit	34664192
Infections	Associate	23755767, 36732712
Inflammation	Associate	34425224, 34664192
Job Syndrome	Associate	34418894
Leiomyoma	Associate	36948524
Leukemia	Associate	34982829, 8391873
Leukemia B Cell	Associate	34622798
Leukemia Lymphocytic Chronic B Cell	Stimulate	27198500
Lupus Erythematosus Systemic	Associate	12115231
Lymphedema	Associate	8731104
Lymphoma	Associate	8391873
Lymphoma B Cell	Associate	7494341
Lymphoma Non Hodgkin	Associate	16857995
Lymphopenia	Associate	16276422, 26186701, 36732712
Multiple Sclerosis	Associate	24122031
Mycobacterium Infections Nontuberculous	Associate	33954879
Myelodysplastic Syndromes	Associate	31503426
Myelodysplastic Syndromes	Inhibit	36166051
Neointima	Associate	24290284
Neoplasms	Associate	17511028, 21655267, 24853685, 36948524
Neutropenia	Associate	24333136, 24996264
Opportunistic Infections	Associate	25516070
Pediatric acute onset neuropsychiatric syndrome	Associate	35773312
Pemphigus	Associate	32926429
Pneumonia	Associate	26186701
Precursor Cell Lymphoblastic Leukemia Lymphoma	Associate	12446444, 33987955, 8391873
Primary Immunodeficiency Diseases	Associate	24290284, 25516070, 30940614, 34622798
Recombinant chromosome 8 syndrome	Inhibit	24418478
Recombinant chromosome 8 syndrome	Associate	32655540
Severe Combined Immunodeficiency	Associate	10606976, 10777560, 10891452, 11121059, 11313270, 11359901, 11520796, 15845893, 16211094, 16276422, 18701881, 19912631, 20846960, 24290284, 24333136 View all (22 more)
Sinusitis	Associate	26186701
Tertiary Lymphoid Structures	Associate	11160277
Tetra amelia with ectodermal dysplasia and lacrimal duct abnormalities	Associate	34982829
Thymic epithelial tumor	Associate	30832724
Thyroid Cancer Papillary	Associate	21909078
Uniparental Disomy	Associate	31503426
Urinary Bladder Neoplasms	Associate	16465622
Vasculitis Leukocytoclastic Cutaneous	Associate	26186701
Waldenstrom Macroglobulinemia	Associate	27301862
X Linked Combined Immunodeficiency Diseases	Associate	16211094, 16276422, 21625022, 22424479, 23755767, 24122031, 24418478, 25516070, 26186701, 28083621, 29051008, 30307608, 32655540, 32691468, 34052995, 36279417 View all (1 more)

RAG1 (recombination activating 1)