RAG1 (recombination activating 1)

Gene

• Entrez ID: 5896
• Gene name: Recombination activating 1
• Gene symbol: RAG1
• Synonyms (NCBI Gene): RAG-1, RNF74
• Chromosome: 11
• Chromosome location: 11p12
• Summary: 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

SNPs

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

miRNA

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

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

Gene ontology (GO)

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

Other IDs

• MIM: 179615
• HGNC: 9831
• e!Ensembl: 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

Pathways

KEGG:

FoxO signaling pathway
Primary immunodeficiency

Reactome:

MAPK6/MAPK4 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 due to partial RAG1 deficiency	Pathogenic; Likely pathogenic	rs1850837839, rs750055861, rs182385524, rs2133298263, rs1254739284, rs2494752085, rs748296558, rs769349662, rs200300629, rs2494752082, rs1417654713, rs878853004, rs878853031, rs760816389, rs772962160, rs28933392, rs104894282, rs104894284, rs104894289, rs104894291, rs104894285, rs104894286, rs749256215, rs104894287, rs104894288, rs121918568, rs121918569, rs121918570, rs121918571, rs121918572, rs2494750358, rs749360497, rs756384834, rs2494751448, rs2494753295, rs2494760674, rs2494752916, rs2494752351, rs1257740588, rs986694616, rs1384545687, rs2494751635, rs1378936510, rs2494761283, rs2494762182, rs773194976, rs2494760363, rs2494750488, rs1199316807, rs2494750272, rs2494756760, rs2494757178, rs770771227, rs539590514, rs1064793248, rs193922461, rs193922464, rs757797994, rs754502950, rs1241698978, rs1564989655, rs773929270, rs764981110, rs568867325, rs1590702874, rs199474679, rs141524540, rs199474685, rs199474678, rs199474686, rs199474688, rs199474680, rs199474676, rs150739647, rs1850805503, rs758288006, rs749027430, rs1389614116, rs199776076, rs1850830824, rs1850845029	RCV001336878 RCV002488205 RCV003473990 RCV003475086 RCV003475325 RCV003475328 RCV003475495 RCV003475508 RCV004572850 RCV003475425 RCV003475470 RCV005044465 RCV003475050 RCV003475554 RCV002279720 RCV004566740 RCV005042041 RCV003473089 RCV003473090 RCV003473091 RCV003473092 RCV003473093 RCV003473094 RCV000014040 RCV000014041 RCV003473095 RCV004566741 RCV003473096 RCV003473097 RCV003473098 RCV003472546 RCV003472547 RCV003472548 RCV003472549 RCV003472550 RCV003472552 RCV003472553 RCV003472554 RCV003472555 RCV003472556 RCV003472557 RCV003472558 RCV003472560 RCV003472561 RCV003472562 RCV003472563 RCV003472564 RCV004573298 RCV005040525 RCV004574679 RCV004574680 RCV004574681 RCV005040708 RCV003476001 RCV004568146 RCV003473148 RCV001336880 RCV002491148 RCV000768065 RCV002279730 RCV003472286 RCV000768299 RCV003472327 RCV003472380 RCV005047106 RCV003474643 RCV000762842 RCV003474645 RCV003474646 RCV002498351 RCV003474648 RCV005042180 RCV005042181 RCV005042182 RCV003473700 RCV003473687 RCV002497461 RCV003473673 RCV003473710 RCV003473711 RCV001253457	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Combined immunodeficiency with skin granulomas	Pathogenic; Likely pathogenic	rs1850837839, rs750055861, rs2133296385, rs749360497, rs182385524, rs2133298263, rs2133297485, rs1195475275, rs2133297611, rs1317208073, rs1254739284, rs2494752085, rs2494754724, rs369990217, rs748296558, rs769349662, rs200300629, rs2494752082, rs2133296872, rs901089989, rs1417654713, rs1480764714, rs2494761308, rs2494755383, rs878853004, rs878853031, rs760816389, rs772962160, rs28933392, rs104894282, rs104894284, rs104894289, rs104894291, rs104894285, rs104894286, rs749256215, rs104894287, rs121918568, rs121918569, rs121918570, rs121918571, rs121918572, rs756384834, rs2494752916, rs2494752351, rs1257740588, rs1384545687, rs1378936510, rs773194976, rs2494760363, rs2494760982, rs4151026, rs2494758555, rs2494760278, rs2494750488, rs2494760163, rs2494759199, rs1850828988, rs2494753892, rs2494751587, rs1850791903, rs1318017328, rs2494757458, rs2494759451, rs1199316807, rs2494754161, rs2494757326, rs2494760396, rs2494754517, rs2494758617, rs760448302, rs2494749848, rs1249862287, rs2494762661, rs770771227, rs539590514, rs1590703275, rs902350422, rs193922461, rs193922464, rs1554944877, rs757797994, rs754502950, rs1241698978, rs1564989455, rs773929270, rs764981110, rs568867325, rs1590702874, rs1590701881, rs752020152, rs199474684, rs141524540, rs199474685, rs199474677, rs199474678, rs199474686, rs199474681, rs199474688, rs199474680, rs199474689, rs199474676, rs150739647, rs1850805503, rs758288006, rs749027430, rs1389614116, rs991089005, rs199776076, rs1850830824, rs1850847819, rs1850809690	RCV002546796 RCV001385111 RCV001389760 RCV001385792 RCV001389162 RCV003772142 RCV001970428 RCV002004080 RCV001956200 RCV001873926 RCV003096337 RCV005042783 RCV003037382 RCV003058302 RCV003062360 RCV003086218 RCV003108847 RCV002824146 RCV002875626 RCV002917360 RCV003012541 RCV003029402 RCV003027260 RCV003030375 RCV003765454 RCV001854775 RCV003779861 RCV000282657 RCV003764567 RCV005042041 RCV001332464 RCV003764569 RCV000688686 RCV001386663 RCV001389160 RCV003764570 RCV001205083 RCV000014042 RCV000014044 RCV000014045 RCV000820844 RCV000801211 RCV003779078 RCV005051315 RCV003779079 RCV003779080 RCV005220720 RCV003779081 RCV003779082 RCV003779083 RCV003779084 RCV003785441 RCV003796011 RCV003785291 RCV003783574 RCV003779475 RCV003782587 RCV003787200 RCV003790463 RCV003806209 RCV003805632 RCV003805783 RCV003799199 RCV003797691 RCV003805332 RCV003803268 RCV003794810 RCV003800793 RCV003813650 RCV003813330 RCV003812533 RCV003810574 RCV003807233 RCV003805057 RCV003810226 RCV005040708 RCV000542154 RCV000022746 RCV005367367 RCV000022745 RCV000820376 RCV000526312 RCV001041560 RCV000695106 RCV001855959 RCV003768298 RCV000768299 RCV000817183 RCV000804696 RCV000817355 RCV000988527 RCV000988529 RCV002513782 RCV000762842 RCV001390074 RCV000819860 RCV001235005 RCV000791763 RCV001854249 RCV002514309 RCV005042180 RCV003764744 RCV000548870 RCV001384587 RCV001070571 RCV001065315 RCV001065314 RCV001060735 RCV001070572 RCV003769021 RCV002557957 RCV002555953 RCV001242919 RCV001253458	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Histiocytic medullary reticulosis	Pathogenic; Likely pathogenic	rs1850837839, rs750055861, rs2133298263, rs2494750713, rs2494752085, rs748296558, rs200300629, rs878853004, rs878853031, rs760816389, rs772962160, rs104894282, rs104894284, rs104894289, rs104894290, rs104894291, rs104894292, rs104894285, rs104894286, rs749256215, rs104894287, rs121918571, rs121918572, rs756384834, rs1384545687, rs1199316807, rs770771227, rs539590514, rs902350422, rs193922461, rs757797994, rs754502950, rs1241698978, rs773929270, rs568867325, rs1590702874, rs199474684, rs141524540, rs199474686, rs199474680, rs199474676, rs150739647, rs758288006, rs749027430, rs199776076	RCV005050339 RCV002488205 RCV002285496 RCV002283780 RCV002283898 RCV005045199 RCV005051260 RCV005044465 RCV001174963 RCV005047483 RCV002279719 RCV005042041 RCV000014025 RCV000014026 RCV000014027 RCV000014028 RCV000014029 RCV000014030 RCV000014032 RCV000014033 RCV005042044 RCV000014046 RCV005042046 RCV005051315 RCV005047610 RCV005040525 RCV005040708 RCV005044626 RCV005367367 RCV005042097 RCV002491148 RCV000768065 RCV002279728 RCV000768299 RCV005047087 RCV005047106 RCV002283452 RCV000762842 RCV002284360 RCV005042180 RCV001729376 RCV005042182 RCV002282448 RCV002497461 RCV005049767	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Inherited Immunodeficiency Diseases	Likely pathogenic; Pathogenic	rs104894286	RCV001027614	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
RAG1-related disorder	Pathogenic; Likely pathogenic	rs182385524, rs2133294899, rs1254739284, rs772962160, rs539590514, rs193922464, rs755551812, rs764981110, rs141524540	RCV004528500 RCV005869751 RCV004529119 RCV000779060 RCV004735502 RCV000778322 RCV000778323 RCV004538084 RCV004734624	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Recombinase activating gene 1 deficiency	Pathogenic; Likely pathogenic	rs1850837839, rs878853031, rs772962160, rs104894283, rs902350422, rs773929270, rs199474685, rs199474676, rs1850847819	RCV003382531 RCV003401159 RCV003401250 RCV003991459 RCV004765334 RCV003396335 RCV003398651 RCV004765313 RCV003991481	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Severe combined immunodeficiency disease	Pathogenic; Likely pathogenic	rs750055861, rs1254739284, rs748296558, rs200300629, rs760816389, rs772962160, rs28933392, rs104894285, rs121918569, rs121918570, rs121918571, rs121918572, rs1257740588, rs1384545687, rs1199316807, rs770771227, rs539590514, rs193922464, rs757797994, rs764981110, rs199474684, rs199474679, rs141524540, rs199474685, rs199474686, rs199474681, rs150739647, rs1850805503, rs758288006, rs1389614116	RCV005432700 RCV005438140 RCV003317640 RCV004701001 RCV005433371 RCV002222473 RCV003234904 RCV004767006 RCV003230361 RCV003330387 RCV005430929 RCV004689417 RCV005240779 RCV005438178 RCV005407254 RCV004586278 RCV005407086 RCV000030393 RCV001731796 RCV003226392 RCV005430963 RCV003235027 RCV001804802 RCV002281904 RCV001731478 RCV003230391 RCV000780682 RCV005432570 RCV005432562 RCV004702616	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive	Pathogenic; Likely pathogenic	rs1850837839, rs750055861, rs2133296385, rs749360497, rs182385524, rs1850812562, rs759401797, rs2133297434, rs2133298263, rs2133297485, rs1195475275, rs2133297611, rs1317208073, rs1389614116, rs1254739284, rs2494752085, rs757001983, rs2494754724, rs369990217, rs748296558, rs769349662, rs786205615, rs200300629, rs2494752082, rs2133296872, rs901089989, rs1417654713, rs1480764714, rs2494761308, rs2494755383, rs878853004, rs878853031, rs760816389, rs772962160, rs28933392, rs104894282, rs104894284, rs104894289, rs104894291, rs104894285, rs104894286, rs749256215, rs104894287, rs121918568, rs121918569, rs121918570, rs121918571, rs121918572, rs756384834, rs2494752916, rs2494752351, rs1257740588, rs1384545687, rs1378936510, rs773194976, rs2494760363, rs2494760982, rs4151026, rs2494758555, rs2494760278, rs2494750488, rs2494760163, rs2494759199, rs1850828988, rs2494753892, rs2494751587, rs1850791903, rs1318017328, rs2494757458, rs2494759451, rs1199316807, rs2494754161, rs2494757326, rs2494760396, rs2494754517, rs2494758617, rs760448302, rs2494749848, rs1249862287, rs2494762661, rs770771227, rs539590514, rs1064793248, rs902350422, rs193922461, rs193922464, rs1554944877, rs757797994, rs754502950, rs1241698978, rs1564989455, rs773929270, rs764981110, rs568867325, rs1590702874, rs752020152, rs199474682, rs199474684, rs199474679, rs141524540, rs199474685, rs199474677, rs199474678, rs199474686, rs199474681, rs199474688, rs199474680, rs199474689, rs199474676, rs150739647, rs1850805503, rs758288006, rs749027430, rs991089005, rs199776076, rs1850830824, rs1850847819, rs986694616	RCV002546796 RCV001385111 RCV001389760 RCV001385792 RCV001389162 RCV001449974 RCV001530177 RCV001530178 RCV003772142 RCV001970428 RCV002004080 RCV001956200 RCV001873926 RCV002266120 RCV003096337 RCV005042783 RCV002289209 RCV003037382 RCV003058302 RCV003062360 RCV003086218 RCV003227688 RCV003108847 RCV002824146 RCV002875626 RCV002917360 RCV003012541 RCV003029402 RCV003027260 RCV003030375 RCV003765454 RCV001854775 RCV003779861 RCV000282657 RCV003764567 RCV005042041 RCV001384043 RCV003764569 RCV000688686 RCV001386663 RCV001389160 RCV003764570 RCV001205083 RCV003764571 RCV002513032 RCV000820053 RCV000820844 RCV000801211 RCV003779078 RCV005051315 RCV003779079 RCV003779080 RCV005220720 RCV003779081 RCV003779082 RCV003779083 RCV003779084 RCV003785441 RCV003796011 RCV003785291 RCV003783574 RCV003779475 RCV003782587 RCV003787200 RCV003790463 RCV003806209 RCV003805632 RCV003805783 RCV003799199 RCV003797691 RCV003805332 RCV003803268 RCV003794810 RCV003800793 RCV003813650 RCV003813330 RCV003812533 RCV003810574 RCV003807233 RCV003805057 RCV003810226 RCV005040708 RCV000542154 RCV002466255 RCV005367367 RCV000696949 RCV000820376 RCV000526312 RCV001041560 RCV000695106 RCV001855959 RCV003768298 RCV000768299 RCV000817183 RCV000804696 RCV000817355 RCV001389161 RCV005859489 RCV002513782 RCV005859490 RCV000762842 RCV000559478 RCV000819860 RCV001235005 RCV000791763 RCV001594380 RCV002514309 RCV005042180 RCV003764744 RCV000548870 RCV001384587 RCV001070571 RCV001065315 RCV001065314 RCV001060735 RCV001070572 RCV003153929 RCV002557957 RCV002555953 RCV001242919 RCV001267787	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Severe combined immunodeficiency, B cell-negative	Pathogenic; Likely pathogenic	rs28933392, rs104894282, rs104894283, rs104894285, rs121918572, rs1241698978	RCV000014021 RCV000014022 RCV000014023 RCV000014031 RCV000014047 RCV002279729	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Thyroid cancer, nonmedullary, 1	Likely pathogenic; Pathogenic	rs150739647	RCV005890409	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Tumor predisposition syndrome 3	Likely pathogenic; Pathogenic	rs121918571	RCV005862711	★★★★☆ 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
Adrenocortical carcinoma, hereditary	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BRAIN INFARCTION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cataract 3 multiple types	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CATARACT, CONGENITAL, CERULEAN TYPE, 2	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CEREBRAL AMYLOID ANGIOPATHY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CILIARY MOTILITY DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMBINED CELLULAR AND HUMORAL IMMUNE DEFECTS WITH GRANULOMAS	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMBINED IMMUNODEFICIENCY DUE TO PARTIAL RECOMBINATION-ACTIVATING GENE 1 DEFICIENCY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMBINED IMMUNODEFICIENCY WITH GRANULOMATOSIS	—	Disgenet, Orphanet Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Immunodeficiency 104	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEWY BODY DEMENTIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microcephaly	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OMENN SYNDROME	—	Disgenet, GenCC, HPO, Orphanet Disgenet, GenCC, HPO, Orphanet Disgenet, GenCC, HPO, Orphanet Disgenet, GenCC, HPO, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pelizaeus-Merzbacher disease	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Primary ciliary dyskinesia	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATIC NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEVERE COMBINED IMMUNODEFICIENCY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEVERE COMBINED IMMUNODEFICIENCY DUE TO COMPLETE RAG1/2 DEFICIENCY	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEVERE COMBINED IMMUNODEFICIENCY DUE TO COMPLETE RECOMBINATION-ACTIVATING GENE 1 AND/OR RECOMBINATION-ACTIVATING GENE 2 DEFICIENCY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	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	24996264, 25956014, 26186701		★☆☆☆☆ Found in Text Mining only
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	12446444, 21622646, 27198500, 7987804, 8391873, 8445948		★☆☆☆☆ Found in Text Mining only
Adenosine deaminase deficiency	Adenosine Deaminase Deficiency	BEFREE	21732012		★☆☆☆☆ Found in Text Mining only
Adult Acute Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	7987804, 8391873		★☆☆☆☆ Found in Text Mining only
Agammaglobulinemia	Agammaglobulinemia	BEFREE	27713031		★☆☆☆☆ Found in Text Mining only
Alopecia	Alopecia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Angioimmunoblastic Lymphadenopathy	Angioimmunoblastic T-cell lymphoma	BEFREE	8518181		★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	21982317, 29570822		★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Arthritis Juvenile	Juvenile arthritis	Pubtator	16504994	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	19404965	Associate	★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	25617223		★☆☆☆☆ Found in Text Mining only
Ataxia Telangiectasia	Ataxia Telangiectasia	BEFREE	1283330		★☆☆☆☆ Found in Text Mining only
Ataxia Telangiectasia	Ataxia telangiectasia	Pubtator	18701881	Associate	★☆☆☆☆ Found in Text Mining only
Atelosteogenesis type 2	Atelosteogenesis	Pubtator	34425224	Associate	★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	21982317, 29570822		★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorder	Autism	Pubtator	35773312	Associate	★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	19458910, 20956421, 24122031, 26515615, 26689875, 31388879		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune disease	Pubtator	24122031, 24290284, 26186701, 30307608, 31388879, 34664192	Associate	★☆☆☆☆ Found in Text Mining only
Autoimmune hemolytic anemia	Autoimmune hemolytic anemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
B-CELL MALIGNANCY, LOW-GRADE	Lymphocytic Leukemia	BEFREE	10905058		★☆☆☆☆ Found in Text Mining only
Brain atrophy	Brain atrophy	BEFREE	28173160		★☆☆☆☆ Found in Text Mining only
Brain Diseases	Brain disease	Pubtator	24333136	Associate	★☆☆☆☆ Found in Text Mining only
Breast adenocarcinoma	Breast Adenocarcinoma	BEFREE	16707440		★☆☆☆☆ Found in Text Mining only
Bronchiolitis Obliterans	Bronchiolitis Obliterans	BEFREE	28251796		★☆☆☆☆ Found in Text Mining only
Bronchitis	Bronchitis	BEFREE	24748604		★☆☆☆☆ Found in Text Mining only
Burkitt Lymphoma	Burkitt`s Lymphoma	BEFREE	8445948		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	22772464		★☆☆☆☆ Found in Text Mining only
Celiac Disease	Celiac disease	BEFREE	18299319		★☆☆☆☆ Found in Text Mining only
Cerebral atrophy	Cerebral Atrophy	BEFREE	28173160		★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	30355201		★☆☆☆☆ Found in Text Mining only
Childhood Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	BEFREE	7987804, 8391873, 8445948		★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	10905058		★☆☆☆☆ Found in Text Mining only
Chronic recurrent multifocal osteomyelitis	Recurrent multifocal osteomyelitis	Pubtator	24122031	Associate	★☆☆☆☆ Found in Text Mining only
Chronic rhinosinusitis with nasal polyps	Rhinosinusitis With Nasal Polyps	BEFREE	23157682		★☆☆☆☆ Found in Text Mining only
CNS disorder	CNS Disorder	BEFREE	10092095		★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	BEFREE	15322210, 15765149, 16210648, 21107311, 21518800, 22753934, 23669411, 24424521, 25100292, 26818761, 28039309, 29113905, 29988117, 31559420, 31595055		★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	24798995		★☆☆☆☆ Found in Text Mining only
Combined Cellular And Humoral Immune Defects With Granulomas	Combined Cellular And Humoral Immune Defects With Granulomas	CLINVAR_DG	10701853, 11133745, 11313270, 17075247, 17572155, 18056378, 18442948, 18701881, 18822103, 19064334, 19458910, 19830075, 20489056, 21131235, 24290284, 25516070, 9630231		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Combined Cellular And Humoral Immune Defects With Granulomas	Combined Cellular And Humoral Immune Defects With Granulomas	ORPHANET_DG	18463379		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Combined Cellular And Humoral Immune Defects With Granulomas	Combined Cellular And Humoral Immune Defects With Granulomas	UNIPROT_DG	18463379		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Combined Cellular And Humoral Immune Defects With Granulomas	Combined Cellular And Humoral Immune Defects With Granulomas	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Combined Cellular And Humoral Immune Defects With Granulomas	Combined Cellular And Humoral Immune Defects With Granulomas	GENOMICS_ENGLAND_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Combined immunodeficiency	Severe combined immunodeficiency disease	BEFREE	24122031, 24996264, 28216420, 29051008, 30307608		★☆☆☆☆ Found in Text Mining only
Combined immunodeficiency	Severe combined immunodeficiency disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Combined immunodeficiency with granulomatosis	Combined Cellular And Humoral Immune Defects With Granulomas	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Common Variable Immunodeficiency	Common Variable Immunodeficiency	BEFREE	24996264, 25956014, 26186701		★☆☆☆☆ Found in Text Mining only
Common Variable Immunodeficiency	Common variable immunodeficiency	Pubtator	24996264, 25516070, 26186701	Associate	★☆☆☆☆ Found in Text Mining only
Complete atrioventricular block	Complete Atrioventricular Block	BEFREE	16751419		★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of thymus	Congenital Hypoplasia Of Thymus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Conjunctivitis	Conjunctivitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	27435064		★☆☆☆☆ Found in Text Mining only
Dissection of aorta	Aortic dissection	BEFREE	30333305		★☆☆☆☆ Found in Text Mining only
Early infantile epileptic encephalopathy with suppression bursts	Epileptic Encephalopathy	BEFREE	27301863		★☆☆☆☆ Found in Text Mining only
Eosinophilia	Eosinophilia	Pubtator	9630231	Associate	★☆☆☆☆ Found in Text Mining only
Eosinophilia	Eosinophilia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Epithelioma	Epithelioma	BEFREE	9406808		★☆☆☆☆ Found in Text Mining only
Exfoliative dermatitis	Exfoliative Dermatitis	BEFREE	17572155		★☆☆☆☆ Found in Text Mining only
Exfoliative dermatitis	Exfoliative Dermatitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Genetic Predisposition to Disease	Genetic predisposition to disease	Pubtator	11121059	Associate	★☆☆☆☆ Found in Text Mining only
Granulomatous Disease Chronic	Granulomatous disease	Pubtator	24122031, 33954879	Associate	★☆☆☆☆ Found in Text Mining only
Hemangioblastoma	Hemangioblastoma	BEFREE	28322325		★☆☆☆☆ Found in Text Mining only
Hematologic Diseases	Hematologic disease	Pubtator	16276422	Associate	★☆☆☆☆ Found in Text Mining only
Hepatitis B	Hepatitis b	Pubtator	11313270, 18701881	Associate	★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin Disease	BEFREE	1337849, 1450411		★☆☆☆☆ Found in Text Mining only
Hyperinsulinism	Hyperinsulinism	BEFREE	28352127, 30458004		★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	28213473, 28438904, 29118017		★☆☆☆☆ Found in Text Mining only
Hypoproteinemia	Hypoproteinemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypothyroidism	Hypothyroidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Immune System Diseases	Immune system disease	Pubtator	19898481, 27301863, 31388879, 36732712	Associate	★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	BEFREE	10419685, 15099593, 15308121, 15668741, 15720817, 15729726, 18785974, 19104149, 19696629, 19796607, 20012395, 20628092, 24798995, 27435064, 28352127, 28790360, 29051567, 29688994, 30943039		★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Ki-1+ Anaplastic Large Cell Lymphoma	Anaplastic Lymphoma	BEFREE	8518181		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	BEFREE	17062753		★☆☆☆☆ Found in Text Mining only
Leiomyoma	Leiomyoma	Pubtator	36948524	Associate	★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	21622646, 28179379, 8371592, 8391873		★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	34982829, 8391873	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	12651264, 7987804		★☆☆☆☆ Found in Text Mining only
Lung diseases	Lung Diseases	BEFREE	30772497		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	12115231	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	17608810		★☆☆☆☆ Found in Text Mining only
Lymphadenitis	Lymphadenitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Lymphedema	Lymphedema	Pubtator	8731104	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoid leukemia	Lymphoid leukemia	BEFREE	21622646		★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	11279609, 26584567, 28179379		★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	Pubtator	8391873	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Lymphoma, T-Cell, Cutaneous	Lymphoma	BEFREE	9536544		★☆☆☆☆ Found in Text Mining only
Lymphopenia	Lymphopenia	BEFREE	19246248		★☆☆☆☆ Found in Text Mining only
Lymphoproliferative Disorders	Lymphoproliferative Disorder	BEFREE	31313695		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	28352127, 30458004		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	CTD_human_DG	29610475		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	15729726, 17475920, 17511028, 28352127, 29069605		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	24798995		★☆☆☆☆ Found in Text Mining only
Mastoiditis	Mastoiditis	HPO_DG			★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	22772464		★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	24664276		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple sclerosis	Pubtator	24122031	Associate	★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy	Muscular dystrophy	BEFREE	15099593		★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	BEFREE	22606303, 28982058, 31503426		★☆☆☆☆ Found in Text Mining only
Myelodysplastic Syndromes	Myelodysplastic syndrome	Pubtator	31503426	Associate	★☆☆☆☆ Found in Text Mining only
Myelodysplastic Syndromes	Myelodysplastic syndrome	Pubtator	36166051	Inhibit	★☆☆☆☆ Found in Text Mining only
Myocarditis	Myocarditis	BEFREE	14764740, 16751419		★☆☆☆☆ Found in Text Mining only
Nasal Polyps	Nasal polyposis	BEFREE	27713031		★☆☆☆☆ Found in Text Mining only
Necrotizing enterocolitis in fetus OR newborn	Necrotizing Enterocolitis	BEFREE	26690704, 30148762		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	11585777, 15782131, 16314485, 16707440, 22262494, 22772464, 24038106, 24700450, 24798995, 26584567, 29512660, 30943039, 7494341		★☆☆☆☆ Found in Text Mining only
Nephrotic Syndrome	Nephrotic Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	24038106		★☆☆☆☆ Found in Text Mining only
Neutropenia	Neutropenia	Pubtator	24333136, 24996264	Associate	★☆☆☆☆ Found in Text Mining only
Omenn Syndrome	Omenn Syndrome	UNIPROT_DG	10606976, 11133745, 19912631, 21624848, 21771083, 9630231		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Omenn Syndrome	Omenn Syndrome	BEFREE	10891452, 11121059, 11213808, 11313270, 11520796, 15025726, 15731174, 15845893, 16061569, 16211094, 16960852, 17075247, 17176792, 17572155, 18056378, 18592361, 18768869, 19011808, 19246248, 19912631, 21624848, 22882342, 24332219, 24817258, 25849362, 25956014, 26186701, 26476733, 26596586, 27301863, 28083621, 29734775		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Omenn Syndrome	Omenn Syndrome	CLINVAR_DG	10891502, 11908269, 11971977, 12200379, 16960852, 17075247, 17176792, 19470080, 20956421, 21131235, 21664875, 22841008, 26457731, 9630231		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Omenn Syndrome	Omenn Syndrome	GENOMICS_ENGLAND_DG	9630231		★★☆☆☆ 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
Opitz GBBB Syndrome, X-Linked	Opitz GBBB Syndrome, X-Linked	BEFREE	27301863		★☆☆☆☆ Found in Text Mining only
Optic Neuropathy	Optic Neuropathy	BEFREE	25312244		★☆☆☆☆ Found in Text Mining only
Otitis Media	Otitis media	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pemphigus	Pemphigus	Pubtator	32926429	Associate	★☆☆☆☆ Found in Text Mining only
Pre B-cell acute lymphoblastic leukemia	B-cell Lymphoma	BEFREE	21622646, 27436288		★☆☆☆☆ Found in Text Mining only
Precursor B-cell lymphoblastic leukemia	Lymphoblastic Leukemia	BEFREE	21622646, 27436288, 27799525, 29100269, 8916942		★☆☆☆☆ Found in Text Mining only
Precursor Cell Lymphoblastic Leukemia Lymphoma	Lymphoblastic Leukemia	BEFREE	21622646, 8391873, 8445948		★☆☆☆☆ Found in Text Mining only
Primary immune deficiency disorder	immunodeficiency	CLINVAR_DG	10891502, 12200379, 16960852, 19470080, 21131235, 22841008, 26457731		★☆☆☆☆ Found in Text Mining only
Primary immune deficiency disorder	immunodeficiency	BEFREE	18056378, 28552805		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	28352127, 30458004		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	CTD_human_DG	29610475		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Purine-nucleoside phosphorylase deficiency	Purine-Nucleoside Phosphorylase Deficiency	BEFREE	21732012		★☆☆☆☆ Found in Text Mining only
Pyoderma Gangrenosum	Pyoderma Gangrenosum	BEFREE	25104208, 26689875		★☆☆☆☆ Found in Text Mining only
Renal fibrosis	Renal fibrosis	BEFREE	28396117		★☆☆☆☆ Found in Text Mining only
Reticuloendotheliosis, familial, with eosinophilia	Reticuloendotheliosis With Eosinophilia	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	19404965		★☆☆☆☆ Found in Text Mining only
Selective immunoglobulin A deficiency	Selective Immunoglobulin A Deficiency	BEFREE	25739914		★☆☆☆☆ Found in Text Mining only
Septicemia	Septicemia	BEFREE	19158156, 25692255		★☆☆☆☆ Found in Text Mining only
Severe Combined Immunodeficiency	Severe combined immunodeficiency	Pubtator	10606976, 10777560, 10891452, 11121059, 11313270, 11359901, 11520796, 15845893, 16211094, 16276422, 18701881, 19912631, 20846960, 24290284, 24333136, 24418478, 24666246, 24817258, 25849362, 26186701, 27301863, 28083621, 28109013, 28266921, 29051008, 30307608, 31885011, 32265901, 32655540, 32691468, 33519828, 33954879, 35303369, 36279417, 36732712, 36786340, 9630231	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Severe Combined Immunodeficiency	Severe combined immunodeficiency disease	BEFREE	10777560, 10891452, 11313270, 11359901, 15025726, 15770702, 15845893, 16061569, 16960852, 17075247, 17572155, 18592361, 18701881, 19458910, 19584299, 20547827, 21617701, 22882342, 24332219, 24666246, 25869295, 26186701, 26476733, 26689875, 27301863, 27539235, 28083621, 28552805, 28735354, 29753156, 30105620, 30307608, 31058115, 31520268		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Severe Combined Immunodeficiency	Severe combined immunodeficiency disease	CLINVAR_DG	11213808, 11971977, 17572155, 18463379, 18768869, 20956421, 25869295, 27484032		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Severe Combined Immunodeficiency	Severe combined immunodeficiency disease	LHGDN	12200379, 16061569, 17075247, 18701881, 18768869		★★☆☆☆ 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	GENOMICS_ENGLAND_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Severe combined immunodeficiency due to adenosine deaminase deficiency	Severe combined immunodeficiency disease	BEFREE	21732012		★☆☆☆☆ Found in Text Mining only
Severe combined immunodeficiency due to complete RAG1/2 deficiency	Severe combined immunodeficiency disease	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Severe combined immunodeficiency, atypical	Severe combined immunodeficiency disease	BEFREE	18592361, 25104208, 26689875		★☆☆☆☆ Found in Text Mining only
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, NK Cell-Positive	Severe combined immunodeficiency disease	CLINVAR_DG	10701853, 11133745, 11313270, 17075247, 17572155, 18056378, 18442948, 18701881, 18822103, 19064334, 19458910, 19830075, 20489056, 21131235, 24290284, 25516070, 9630231		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, NK Cell-Positive	Severe combined immunodeficiency disease	UNIPROT_DG	19912631, 8810255		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, NK Cell-Positive	Severe combined immunodeficiency disease	ORPHANET_DG	8810255		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, NK Cell-Positive	Severe combined immunodeficiency disease	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, NK Cell-Positive	Severe combined immunodeficiency disease	GENOMICS_ENGLAND_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Sinusitis	Sinusitis	Pubtator	26186701	Associate	★☆☆☆☆ Found in Text Mining only
T-Cell Lymphoma	T-Cell Lymphoma	BEFREE	20852128		★☆☆☆☆ Found in Text Mining only
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	21909078	Associate	★☆☆☆☆ Found in Text Mining only
Thyroiditis	Thyroiditis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	16465622	Associate	★☆☆☆☆ Found in Text Mining only
Vasculitis Leukocytoclastic Cutaneous	Vasculitis	Pubtator	26186701	Associate	★☆☆☆☆ Found in Text Mining only
Waldenstrom Macroglobulinemia	Waldenstrom macroglobulinemia	Pubtator	27301862	Associate	★☆☆☆☆ Found in Text Mining only
Wiskott-Aldrich Syndrome	Wiskott-Aldrich Syndrome	BEFREE	24619149		★☆☆☆☆ Found in Text Mining only