DCLRE1C (DNA cross-link repair 1C)

Gene

• Entrez ID: 64421
• Gene name: DNA cross-link repair 1C
• Gene symbol: DCLRE1C
• Synonyms (NCBI Gene): A-SCID, DCLREC1C, RS-SCID, SCIDA, SNM1C
• Chromosome: 10
• Chromosome location: 10p13
• Summary: This gene encodes a nuclear protein that is involved in V(D)J recombination and DNA repair. The encoded protein has single-strand-specific 5`-3` exonuclease activity; it also exhibits endonuclease activity on 5` and 3` overhangs and hairpins. The protein

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs113870881	T>G	Likely-benign, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, missense variant, non coding transcript variant, coding sequence variant
rs121908156	G>A,T	Pathogenic	5 prime UTR variant, synonymous variant, non coding transcript variant, coding sequence variant, stop gained, intron variant
rs121908157	G>A,T	Pathogenic	Stop gained, synonymous variant, non coding transcript variant, coding sequence variant
rs143782439	T>C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Genic downstream transcript variant, synonymous variant, non coding transcript variant, coding sequence variant
rs146832860	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, synonymous variant
rs373709012	TTC>-	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, inframe deletion, non coding transcript variant, genic downstream transcript variant
rs757316102	G>A	Likely-pathogenic, uncertain-significance	Non coding transcript variant, coding sequence variant, missense variant, intron variant, 5 prime UTR variant
rs786200884	TCTACAA>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant, genic downstream transcript variant
rs786205074	C>-	Pathogenic	Non coding transcript variant, coding sequence variant, splice donor variant
rs786205456	C>T	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs886037924	->T	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant, genic downstream transcript variant
rs886037925	G>A	Pathogenic	Coding sequence variant, intron variant, non coding transcript variant, 5 prime UTR variant, missense variant
rs1340132582	G>C	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs1564414523	C>G	Pathogenic	Intron variant, splice donor variant
rs1564418254	C>T	Pathogenic	Splice donor variant
rs1564446526	C>A	Pathogenic	Initiator codon variant, intron variant, splice donor variant
rs1588893751	->C	Likely-pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant, non coding transcript variant
rs1588896721	->CCTCCTC	Likely-pathogenic	Splice acceptor variant, coding sequence variant, non coding transcript variant, genic downstream transcript variant
rs1589050343	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs1589064324	GAACGTAGTATCC>CAACATAGTATCT	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs1589070600	->A	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1589136659	A>T	Pathogenic	Non coding transcript variant, coding sequence variant, 5 prime UTR variant, intron variant, stop gained

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT042846	hsa-miR-324-3p	CLASH	23622248
MIRT508989	hsa-miR-410-3p	HITS-CLIP	21572407
MIRT508988	hsa-miR-5011-5p	HITS-CLIP	21572407
MIRT515839	hsa-miR-4495	HITS-CLIP	21572407
MIRT508987	hsa-miR-190a-3p	HITS-CLIP	21572407
MIRT508986	hsa-miR-3924	HITS-CLIP	21572407
MIRT508985	hsa-miR-1277-5p	HITS-CLIP	21572407
MIRT515840	hsa-miR-548n	PAR-CLIP	20371350
MIRT508989	hsa-miR-410-3p	PAR-CLIP	20371350
MIRT508988	hsa-miR-5011-5p	PAR-CLIP	20371350
MIRT515839	hsa-miR-4495	PAR-CLIP	20371350
MIRT508987	hsa-miR-190a-3p	PAR-CLIP	20371350
MIRT508986	hsa-miR-3924	PAR-CLIP	20371350
MIRT508985	hsa-miR-1277-5p	PAR-CLIP	20371350
MIRT508989	hsa-miR-410-3p	PAR-CLIP	21572407
MIRT508988	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT515839	hsa-miR-4495	PAR-CLIP	21572407
MIRT508987	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT508986	hsa-miR-3924	PAR-CLIP	21572407
MIRT508985	hsa-miR-1277-5p	PAR-CLIP	21572407
MIRT508989	hsa-miR-410-3p	PAR-CLIP	21572407
MIRT508988	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT508987	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT508986	hsa-miR-3924	PAR-CLIP	21572407
MIRT508985	hsa-miR-1277-5p	PAR-CLIP	21572407
MIRT515840	hsa-miR-548n	PAR-CLIP	23446348
MIRT508989	hsa-miR-410-3p	PAR-CLIP	23446348
MIRT508988	hsa-miR-5011-5p	PAR-CLIP	23446348
MIRT515839	hsa-miR-4495	PAR-CLIP	23446348
MIRT508987	hsa-miR-190a-3p	PAR-CLIP	23446348
MIRT508986	hsa-miR-3924	PAR-CLIP	23446348
MIRT508985	hsa-miR-1277-5p	PAR-CLIP	23446348
MIRT508989	hsa-miR-410-3p	PAR-CLIP	23446348
MIRT508988	hsa-miR-5011-5p	PAR-CLIP	23446348
MIRT508987	hsa-miR-190a-3p	PAR-CLIP	23446348
MIRT508986	hsa-miR-3924	PAR-CLIP	23446348
MIRT508985	hsa-miR-1277-5p	PAR-CLIP	23446348
MIRT736763	hsa-miR-128-3p	qRT-PCR	32528236
MIRT508989	hsa-miR-410-3p	HITS-CLIP	21572407
MIRT508988	hsa-miR-5011-5p	HITS-CLIP	21572407
MIRT515839	hsa-miR-4495	HITS-CLIP	21572407
MIRT508987	hsa-miR-190a-3p	HITS-CLIP	21572407
MIRT508986	hsa-miR-3924	HITS-CLIP	21572407
MIRT508985	hsa-miR-1277-5p	HITS-CLIP	21572407
MIRT515840	hsa-miR-548n	PAR-CLIP	20371350
MIRT508989	hsa-miR-410-3p	PAR-CLIP	20371350
MIRT508988	hsa-miR-5011-5p	PAR-CLIP	20371350
MIRT515839	hsa-miR-4495	PAR-CLIP	20371350
MIRT508987	hsa-miR-190a-3p	PAR-CLIP	20371350
MIRT508986	hsa-miR-3924	PAR-CLIP	20371350
MIRT508985	hsa-miR-1277-5p	PAR-CLIP	20371350
MIRT508989	hsa-miR-410-3p	PAR-CLIP	21572407
MIRT508988	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT515839	hsa-miR-4495	PAR-CLIP	21572407
MIRT508987	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT508986	hsa-miR-3924	PAR-CLIP	21572407
MIRT508985	hsa-miR-1277-5p	PAR-CLIP	21572407
MIRT508989	hsa-miR-410-3p	PAR-CLIP	21572407
MIRT508988	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT508987	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT508986	hsa-miR-3924	PAR-CLIP	21572407
MIRT508985	hsa-miR-1277-5p	PAR-CLIP	21572407
MIRT515840	hsa-miR-548n	PAR-CLIP	23446348
MIRT508989	hsa-miR-410-3p	PAR-CLIP	23446348
MIRT508988	hsa-miR-5011-5p	PAR-CLIP	23446348
MIRT515839	hsa-miR-4495	PAR-CLIP	23446348
MIRT508987	hsa-miR-190a-3p	PAR-CLIP	23446348
MIRT508986	hsa-miR-3924	PAR-CLIP	23446348
MIRT508985	hsa-miR-1277-5p	PAR-CLIP	23446348
MIRT508989	hsa-miR-410-3p	PAR-CLIP	23446348
MIRT508988	hsa-miR-5011-5p	PAR-CLIP	23446348
MIRT508987	hsa-miR-190a-3p	PAR-CLIP	23446348
MIRT508986	hsa-miR-3924	PAR-CLIP	23446348
MIRT508985	hsa-miR-1277-5p	PAR-CLIP	23446348
MIRT926348	hsa-miR-1183	CLIP-seq
MIRT926349	hsa-miR-1278	CLIP-seq
MIRT926350	hsa-miR-150	CLIP-seq
MIRT926351	hsa-miR-154	CLIP-seq
MIRT926352	hsa-miR-3973	CLIP-seq
MIRT926353	hsa-miR-4684-5p	CLIP-seq
MIRT926354	hsa-miR-4742-3p	CLIP-seq
MIRT926355	hsa-miR-4768-5p	CLIP-seq
MIRT926356	hsa-miR-548k	CLIP-seq
MIRT926357	hsa-miR-1273g	CLIP-seq
MIRT926358	hsa-miR-140-5p	CLIP-seq
MIRT926359	hsa-miR-3545-5p	CLIP-seq
MIRT926360	hsa-miR-3591-5p	CLIP-seq
MIRT926361	hsa-miR-3665	CLIP-seq
MIRT926362	hsa-miR-3944-5p	CLIP-seq
MIRT926363	hsa-miR-4460	CLIP-seq
MIRT926364	hsa-miR-4727-3p	CLIP-seq
MIRT926365	hsa-miR-657	CLIP-seq
MIRT926366	hsa-miR-122	CLIP-seq
MIRT926367	hsa-miR-1231	CLIP-seq
MIRT926368	hsa-miR-1245	CLIP-seq
MIRT926369	hsa-miR-1254	CLIP-seq
MIRT926370	hsa-miR-129-5p	CLIP-seq
MIRT926371	hsa-miR-130a	CLIP-seq
MIRT926372	hsa-miR-130b	CLIP-seq
MIRT926373	hsa-miR-1343	CLIP-seq
MIRT926374	hsa-miR-138	CLIP-seq
MIRT926375	hsa-miR-149	CLIP-seq
MIRT926376	hsa-miR-1976	CLIP-seq
MIRT926377	hsa-miR-301a	CLIP-seq
MIRT926378	hsa-miR-301b	CLIP-seq
MIRT926379	hsa-miR-3064-5p	CLIP-seq
MIRT926380	hsa-miR-3116	CLIP-seq
MIRT926381	hsa-miR-3119	CLIP-seq
MIRT926382	hsa-miR-3135b	CLIP-seq
MIRT926383	hsa-miR-3187-3p	CLIP-seq
MIRT926384	hsa-miR-3652	CLIP-seq
MIRT926385	hsa-miR-3666	CLIP-seq
MIRT926386	hsa-miR-3672	CLIP-seq
MIRT926387	hsa-miR-378g	CLIP-seq
MIRT926388	hsa-miR-4295	CLIP-seq
MIRT926389	hsa-miR-4423-5p	CLIP-seq
MIRT926390	hsa-miR-4430	CLIP-seq
MIRT926391	hsa-miR-4435	CLIP-seq
MIRT926392	hsa-miR-4437	CLIP-seq
MIRT926393	hsa-miR-454	CLIP-seq
MIRT926394	hsa-miR-4674	CLIP-seq
MIRT926395	hsa-miR-4701-5p	CLIP-seq
MIRT926396	hsa-miR-4755-3p	CLIP-seq
MIRT926397	hsa-miR-4759	CLIP-seq
MIRT926398	hsa-miR-4794	CLIP-seq
MIRT926399	hsa-miR-4797-5p	CLIP-seq
MIRT926400	hsa-miR-548s	CLIP-seq
MIRT926401	hsa-miR-552	CLIP-seq
MIRT926402	hsa-miR-588	CLIP-seq
MIRT926403	hsa-miR-654-3p	CLIP-seq
MIRT926404	hsa-miR-661	CLIP-seq
MIRT926405	hsa-miR-764	CLIP-seq
MIRT926406	hsa-miR-892a	CLIP-seq
MIRT1974473	hsa-miR-642b	CLIP-seq
MIRT2209875	hsa-miR-216a	CLIP-seq
MIRT2209876	hsa-miR-4714-3p	CLIP-seq
MIRT926370	hsa-miR-129-5p	CLIP-seq
MIRT926381	hsa-miR-3119	CLIP-seq
MIRT2428133	hsa-miR-562	CLIP-seq
MIRT926366	hsa-miR-122	CLIP-seq
MIRT926369	hsa-miR-1254	CLIP-seq
MIRT926371	hsa-miR-130a	CLIP-seq
MIRT926372	hsa-miR-130b	CLIP-seq
MIRT926377	hsa-miR-301a	CLIP-seq
MIRT926378	hsa-miR-301b	CLIP-seq
MIRT926380	hsa-miR-3116	CLIP-seq
MIRT926381	hsa-miR-3119	CLIP-seq
MIRT926382	hsa-miR-3135b	CLIP-seq
MIRT926384	hsa-miR-3652	CLIP-seq
MIRT926385	hsa-miR-3666	CLIP-seq
MIRT926388	hsa-miR-4295	CLIP-seq
MIRT926389	hsa-miR-4423-5p	CLIP-seq
MIRT926390	hsa-miR-4430	CLIP-seq
MIRT926393	hsa-miR-454	CLIP-seq
MIRT926399	hsa-miR-4797-5p	CLIP-seq
MIRT926404	hsa-miR-661	CLIP-seq
MIRT2513699	hsa-miR-1184	CLIP-seq
MIRT926366	hsa-miR-122	CLIP-seq
MIRT926367	hsa-miR-1231	CLIP-seq
MIRT926368	hsa-miR-1245	CLIP-seq
MIRT926369	hsa-miR-1254	CLIP-seq
MIRT2513700	hsa-miR-1297	CLIP-seq
MIRT926371	hsa-miR-130a	CLIP-seq
MIRT926372	hsa-miR-130b	CLIP-seq
MIRT926373	hsa-miR-1343	CLIP-seq
MIRT2513701	hsa-miR-1912	CLIP-seq
MIRT2513702	hsa-miR-1915	CLIP-seq
MIRT926376	hsa-miR-1976	CLIP-seq
MIRT2513703	hsa-miR-24	CLIP-seq
MIRT2513704	hsa-miR-26a	CLIP-seq
MIRT2513705	hsa-miR-26b	CLIP-seq
MIRT926377	hsa-miR-301a	CLIP-seq
MIRT926378	hsa-miR-301b	CLIP-seq
MIRT926380	hsa-miR-3116	CLIP-seq
MIRT926381	hsa-miR-3119	CLIP-seq
MIRT926382	hsa-miR-3135b	CLIP-seq
MIRT2513706	hsa-miR-3176	CLIP-seq
MIRT926384	hsa-miR-3652	CLIP-seq
MIRT926385	hsa-miR-3666	CLIP-seq
MIRT926387	hsa-miR-378g	CLIP-seq
MIRT2513707	hsa-miR-3922-3p	CLIP-seq
MIRT2513708	hsa-miR-4279	CLIP-seq
MIRT2513709	hsa-miR-4284	CLIP-seq
MIRT926388	hsa-miR-4295	CLIP-seq
MIRT2513710	hsa-miR-4312	CLIP-seq
MIRT2513711	hsa-miR-4418	CLIP-seq
MIRT926389	hsa-miR-4423-5p	CLIP-seq
MIRT926390	hsa-miR-4430	CLIP-seq
MIRT926392	hsa-miR-4437	CLIP-seq
MIRT2513712	hsa-miR-4438	CLIP-seq
MIRT2513713	hsa-miR-4465	CLIP-seq
MIRT2513714	hsa-miR-4512	CLIP-seq
MIRT926393	hsa-miR-454	CLIP-seq
MIRT926394	hsa-miR-4674	CLIP-seq
MIRT2513715	hsa-miR-4722-3p	CLIP-seq
MIRT2513716	hsa-miR-4726-3p	CLIP-seq
MIRT2513717	hsa-miR-4757-5p	CLIP-seq
MIRT926397	hsa-miR-4759	CLIP-seq
MIRT926399	hsa-miR-4797-5p	CLIP-seq
MIRT2513718	hsa-miR-509-3-5p	CLIP-seq
MIRT2513719	hsa-miR-5095	CLIP-seq
MIRT2513720	hsa-miR-509-5p	CLIP-seq
MIRT2513721	hsa-miR-520a-5p	CLIP-seq
MIRT2513722	hsa-miR-525-5p	CLIP-seq
MIRT2513723	hsa-miR-550a	CLIP-seq
MIRT926401	hsa-miR-552	CLIP-seq
MIRT926403	hsa-miR-654-3p	CLIP-seq
MIRT926404	hsa-miR-661	CLIP-seq
MIRT926405	hsa-miR-764	CLIP-seq
MIRT2679069	hsa-miR-1182	CLIP-seq
MIRT2513699	hsa-miR-1184	CLIP-seq
MIRT926366	hsa-miR-122	CLIP-seq
MIRT926367	hsa-miR-1231	CLIP-seq
MIRT926368	hsa-miR-1245	CLIP-seq
MIRT926369	hsa-miR-1254	CLIP-seq
MIRT926371	hsa-miR-130a	CLIP-seq
MIRT926372	hsa-miR-130b	CLIP-seq
MIRT926373	hsa-miR-1343	CLIP-seq
MIRT926375	hsa-miR-149	CLIP-seq
MIRT2513701	hsa-miR-1912	CLIP-seq
MIRT926376	hsa-miR-1976	CLIP-seq
MIRT2679070	hsa-miR-2113	CLIP-seq
MIRT2513703	hsa-miR-24	CLIP-seq
MIRT926377	hsa-miR-301a	CLIP-seq
MIRT926378	hsa-miR-301b	CLIP-seq
MIRT926379	hsa-miR-3064-5p	CLIP-seq
MIRT926380	hsa-miR-3116	CLIP-seq
MIRT926381	hsa-miR-3119	CLIP-seq
MIRT2679071	hsa-miR-3131	CLIP-seq
MIRT926382	hsa-miR-3135b	CLIP-seq
MIRT2679072	hsa-miR-3143	CLIP-seq
MIRT2679073	hsa-miR-3614-3p	CLIP-seq
MIRT926384	hsa-miR-3652	CLIP-seq
MIRT926385	hsa-miR-3666	CLIP-seq
MIRT2679074	hsa-miR-3691-3p	CLIP-seq
MIRT926387	hsa-miR-378g	CLIP-seq
MIRT2513709	hsa-miR-4284	CLIP-seq
MIRT926388	hsa-miR-4295	CLIP-seq
MIRT2679075	hsa-miR-4297	CLIP-seq
MIRT2513711	hsa-miR-4418	CLIP-seq
MIRT926389	hsa-miR-4423-5p	CLIP-seq
MIRT926390	hsa-miR-4430	CLIP-seq
MIRT926392	hsa-miR-4437	CLIP-seq
MIRT926393	hsa-miR-454	CLIP-seq
MIRT926394	hsa-miR-4674	CLIP-seq
MIRT2679076	hsa-miR-4715-3p	CLIP-seq
MIRT2679077	hsa-miR-4752	CLIP-seq
MIRT926397	hsa-miR-4759	CLIP-seq
MIRT926398	hsa-miR-4794	CLIP-seq
MIRT926399	hsa-miR-4797-5p	CLIP-seq
MIRT2513718	hsa-miR-509-3-5p	CLIP-seq
MIRT2513720	hsa-miR-509-5p	CLIP-seq
MIRT2679078	hsa-miR-543	CLIP-seq
MIRT926401	hsa-miR-552	CLIP-seq
MIRT2428133	hsa-miR-562	CLIP-seq
MIRT2679079	hsa-miR-611	CLIP-seq
MIRT926403	hsa-miR-654-3p	CLIP-seq
MIRT926404	hsa-miR-661	CLIP-seq
MIRT926405	hsa-miR-764	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000014	Function	Single-stranded DNA endodeoxyribonuclease activity	IDA	11955432
GO:0000723	Process	Telomere maintenance	IBA
GO:0000723	Process	Telomere maintenance	IEA
GO:0002250	Process	Adaptive immune response	IEA
GO:0002376	Process	Immune system process	IEA
GO:0003684	Function	Damaged DNA binding	IBA
GO:0004518	Function	Nuclease activity	IEA
GO:0004519	Function	Endonuclease activity	IEA
GO:0004519	Function	Endonuclease activity	TAS
GO:0004527	Function	Exonuclease activity	IEA
GO:0005515	Function	Protein binding	IPI	22529269, 23219551, 23523427, 25941166, 28780862, 33961781
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005794	Component	Golgi apparatus	IDA
GO:0006259	Process	DNA metabolic process	IEA
GO:0006281	Process	DNA repair	IEA
GO:0006302	Process	Double-strand break repair	IEA
GO:0006303	Process	Double-strand break repair via nonhomologous end joining	IBA
GO:0006303	Process	Double-strand break repair via nonhomologous end joining	TAS
GO:0006310	Process	DNA recombination	IEA
GO:0006310	Process	DNA recombination	IEA
GO:0006974	Process	DNA damage response	IEA
GO:0008409	Function	5'-3' exonuclease activity	IDA	11955432
GO:0010212	Process	Response to ionizing radiation	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0030183	Process	B cell differentiation	IEA
GO:0033151	Process	V(D)J recombination	IEA
GO:0035312	Function	5'-3' DNA exonuclease activity	IBA
GO:0036297	Process	Interstrand cross-link repair	IBA
GO:0051276	Process	Chromosome organization	IEA
GO:0070419	Component	Nonhomologous end joining complex	IBA
GO:0070419	Component	Nonhomologous end joining complex	IDA	25941166

Other IDs

• MIM: 605988
• HGNC: 17642
• e!Ensembl: ENSG00000152457

Protein

• UniProt ID: Q96SD1
• Protein name: Protein artemis (EC 3.1.-.-) (DNA cross-link repair 1C protein) (Protein A-SCID) (SNM1 homolog C) (hSNM1C) (SNM1-like protein)
• Protein function: Nuclease involved in DNA non-homologous end joining (NHEJ); required for double-strand break repair and V(D)J recombination (PubMed:11336668, PubMed:11955432, PubMed:12055248, PubMed:14744996, PubMed:15071507, PubMed:15574326, PubMed:15936993).
• PDB: 3W1B, 3W1G, 4HTP, 6TT5, 6WNL, 6WO0, 7ABS, 7AF1, 7AFS, 7AFU, 7AGI, 7APV, 7SGL, 7TYR
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF07522	DRMBL	239 → 345	DNA repair metallo-beta-lactamase	Domain

• Tissue specificity: TISSUE SPECIFICITY: Ubiquitously expressed, with highest levels in the kidney, lung, pancreas and placenta (at the mRNA level). Expression is not increased in thymus or bone marrow, sites of V(D)J recombination. {ECO:0000269|PubMed:11336668}.
• Sequence:

  MSSFEGQMAEYPTISIDRFDRENLRARAYFLSHCHKDHMKGLRAPTLKRRLECSLKVYLY
  CSPVTKELLLTSPKYRFWKKRIISIEIETPTQISLVDEASGEKEEIVVTLLPAGHCPGSV
  MFLFQGNNGTVLYTGDFRLAQGEAARMELLHSGGRVKDIQSVYLDTTFCDPRFYQIPSRE
  ECLSGVLELVRSWITRSPYHVVWLNCKAAYGYEYLFTNLSEELGVQVHVNKLDMFRNMPE
  ILHHLTTDRNTQIHACRHPKAEEYFQWSKLPCGITSRNRIPLHIISIKPSTMWFGERSRK
  TNVIVRTGESSYRACFSFHSSYSEIKDFLSYLCPVNAYPNVIPVGTTMDKVVEILKPLCR
  SSQSTEPKYKPLGKLKRARTVHRDSEEEDDYLFDDPLPIPLRHKVPYPETFHPEVFSMTA
  VSEKQPEKLRQTPGCCRAECMQSSRFTNFVDCEESNSESEEEVGIPASLQGDLGSVLHLQ
  KADGDVPQWEVFFKRNDEITDESLENFPSSTVAGGSQSPKLFSDSDGESTHISSQNSSQS
  THITEQGSQGWDSQSDTVLLSSQERNSGDITSLDKADYRPTIKENIPASLMEQNVICPKD
  TYSDLKSRDKDVTIVPSTGEPTTLSSETHIPEEKSLLNLSTNADSQSSSDFEVPSTPEAE
  LPKREHLQYLYEKLATGESIAVKKRKCSLLDT

• Sequence length: 692

Pathways

KEGG:

Non-homologous end-joining
Primary immunodeficiency

Reactome:

Nonhomologous End-Joining (NHEJ)

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
Aicardi-Goutieres syndrome 1	Likely pathogenic	rs969498121	RCV004542188	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Athabaskan severe combined immunodeficiency	Likely pathogenic; Pathogenic	rs2130944445, rs1834776385, rs121908157, rs786200884, rs765047440, rs2491634513, rs143144732, rs1839765652	RCV005614754 RCV005614687 RCV000004937 RCV001826416 RCV005616725 RCV004515802 RCV001829948 RCV001835359	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Colon adenocarcinoma	Pathogenic	rs1162344514	RCV005913647	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
DCLRE1C-related disorder	Pathogenic	rs2131775994, rs121908156	RCV004758200 RCV005229764	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ehlers-Danlos syndrome, kyphoscoliotic type 1	Likely pathogenic	rs969498121	RCV004526885	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Histiocytic medullary reticulosis	Likely pathogenic; Pathogenic	rs1407251815, rs1317003987, rs752655158, rs767758218, rs1346260747, rs1839625956, rs2130974126, rs969498121, rs2131776743, rs2131026813, rs2131027694, rs121908156, rs1564446526, rs121908157, rs121908159, rs786200884, rs2492077470, rs2491636150, rs2491633975, rs2491629087, rs2492040094, rs2492029077, rs2491620281, rs1564438804, rs2491628054, rs2492038028, rs2491620028, rs2491634111, rs765144892, rs2492005406, rs2492174062, rs1250826419, rs2492023846, rs1460843145, rs2492298473, rs2491775008, rs1215422400, rs755182961, rs2491621783, rs1564414831, rs2491774838, rs2492024816, rs2491620581, rs752450605, rs2491629802, rs2492173028, rs2491846909, rs2491637540, rs2491946964, rs2491637403, rs2492025655, rs2491772724, rs2130918080, rs1839956628, rs1588893751, rs1589050343, rs1839957089, rs1162344514, rs1404214090, rs1354336544, rs143144732	RCV003462995 RCV003462975 RCV002506822 RCV004571097 RCV004571458 RCV003471244 RCV003470999 RCV003471090 RCV003475218 RCV005042616 RCV005032033 RCV000762806 RCV003466817 RCV003466818 RCV000004938 RCV003466819 RCV003475578 RCV003459952 RCV003459953 RCV003466115 RCV003466116 RCV003466117 RCV003459954 RCV003466118 RCV003466119 RCV003466120 RCV003466122 RCV003466123 RCV003466124 RCV003466125 RCV003466126 RCV003466129 RCV003459955 RCV003466130 RCV003466131 RCV003466132 RCV004574062 RCV004573367 RCV003983751 RCV004575765 RCV004575766 RCV004575767 RCV004575768 RCV004575769 RCV004575770 RCV004575771 RCV004575772 RCV004575773 RCV004575774 RCV004575775 RCV004575776 RCV004575777 RCV004575778 RCV004577290 RCV005038726 RCV003461064 RCV003467525 RCV003467786 RCV004570319 RCV004570438 RCV003469418 RCV003469469	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Severe combined immunodeficiency disease	Likely pathogenic; Pathogenic	rs1317003987, rs969498121, rs1354336544, rs2492399115, rs121908156, rs2491626059, rs2491636150, rs1839956628, rs1839765652	RCV005429351 RCV004577007 RCV002271740 RCV004801193 RCV003486542 RCV003236472 RCV004526260 RCV004586189 RCV001267665	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Severe combined immunodeficiency due to DCLRE1C deficiency	Likely pathogenic; Pathogenic	rs2130918080, rs1200768694, rs2131778656, rs755447150, rs1407251815, rs2130938370, rs2130943393, rs1317003987, rs752655158, rs767758218, rs1346260747, rs1839625956, rs2131778479, rs2130944445, rs2131775994, rs1296189593, rs2130974126, rs2131108640, rs2131776422, rs1419439468, rs2130956855, rs2131776130, rs2131775605, rs969498121, rs2131776743, rs2130853055, rs2131775466, rs2131774270, rs1834776385, rs2131026813, rs2131027694, rs1354336544, rs752241422, rs2492040262, rs2492076708, rs2492399115, rs1413539097, rs781123663, rs1437892966, rs773046452, rs786205456, rs121908156, rs1564414523, rs1564418254, rs1564446526, rs786205074, rs121908157, rs121908159, rs786200884, rs183622528, rs2491947800, rs2492029160, rs2491628823, rs2491635842, rs2492399920, rs2492077143, rs2491630672, rs1259009542, rs886037924, rs886037925, rs2492077470, rs2491636150, rs2491628054, rs1460843145, rs2491775008, rs2492034634, rs2492025312, rs2491772724, rs2491948309, rs2491635110, rs2491948431, rs2491904960, rs2492078479, rs2492024196, rs2491630012, rs2492025655, rs2492301012, rs2491631105, rs765047440, rs2492301974, rs2491631758, rs1223502060, rs2492028268, rs2492077741, rs2492024060, rs1215422400, rs2491844147, rs2491775642, rs1839956628, rs1589050343, rs1340132582, rs1589064324, rs1589070600, rs1589136659, rs372597855, rs1839558393, rs1839622622, rs1839957089, rs1839255008, rs1162344514, rs753674918, rs1404214090, rs149090997, rs143144732, rs1839765652	RCV001378176 RCV001387249 RCV001383395 RCV001383253 RCV001383945 RCV001384388 RCV001389043 RCV001381226 RCV002034546 RCV002034585 RCV001867593 RCV002012801 RCV001877090 RCV002028474 RCV001889175 RCV002037655 RCV001877975 RCV001905270 RCV001879615 RCV001883449 RCV001990826 RCV001993148 RCV002000105 RCV001965262 RCV002002535 RCV001941528 RCV001967693 RCV001885789 RCV001873884 RCV001998114 RCV001963645 RCV003096109 RCV002287294 RCV002287295 RCV002302853 RCV002302438 RCV003062249 RCV003062250 RCV003062251 RCV003062252 RCV003062253 RCV003987397 RCV000004929 RCV000004932 RCV000004933 RCV000004934 RCV000004935 RCV000703249 RCV001388406 RCV000644797 RCV002658792 RCV002810776 RCV002843748 RCV002871681 RCV002994511 RCV003018988 RCV003032800 RCV003043704 RCV003039812 RCV003059557 RCV000240842 RCV000240844 RCV003779007 RCV005047594 RCV003611650 RCV003611652 RCV003503656 RCV003503697 RCV003504371 RCV003502313 RCV003502037 RCV003503112 RCV003503049 RCV003503034 RCV003503160 RCV003503206 RCV003503400 RCV003611888 RCV003612607 RCV003612707 RCV003612900 RCV003613101 RCV003613072 RCV003613182 RCV003613063 RCV003613512 RCV003613482 RCV003612064 RCV003859003 RCV003856886 RCV003989253 RCV003990323 RCV005038726 RCV000824500 RCV000814078 RCV000803903 RCV000822442 RCV000988332 RCV001059183 RCV001068278 RCV001057029 RCV001057519 RCV001045920 RCV001386144 RCV001223880 RCV001205821 RCV001232221 RCV001230045 RCV001245169 RCV001349774	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Severe combined immunodeficiency, partial	Pathogenic	rs786200884	RCV000004939	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Thyroid cancer, nonmedullary, 1	Likely pathogenic	rs1839625956, rs2492028268	RCV005925528 RCV005934683	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMMON VARIABLE IMMUNODEFICIENCY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EHLERS-DANLOS SYNDROME TYPE 6	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MIGRAINE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OMENN SYNDROME	—	ClinVar, Disgenet, HPO, Orphanet ClinVar, Disgenet, HPO, Orphanet ClinVar, Disgenet, HPO, Orphanet ClinVar, Disgenet, HPO, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★☆☆☆ 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 WITH SENSITIVITY TO IONIZING RADIATION	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEVERE COMBINED IMMUNODEFICIENCY, ATHABASKAN-TYPE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Squamous cell carcinoma of the head and neck	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenosine deaminase deficiency	Adenosine Deaminase Deficiency	BEFREE	9132827		★☆☆☆☆ Found in Text Mining only
Agammaglobulinemia	Agammaglobulinemia	BEFREE	30630113		★☆☆☆☆ Found in Text Mining only
Alopecia	Alopecia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	BEFREE	28080106		★☆☆☆☆ Found in Text Mining only
Anxiety Disorders	Anxiety Disorder	BEFREE	28080106, 29276896		★☆☆☆☆ Found in Text Mining only
Athabaskan severe combined immunodeficiency	Severe combined immunodeficiency disease	ORPHANET_DG	12055248		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	8084613, 8396561		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	28548129		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	30947698	Associate	★☆☆☆☆ Found in Text Mining only
Burkitt Lymphoma	Burkitt`s Lymphoma	BEFREE	19363465, 9058839		★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	12672069		★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognitive disorder	BEFREE	23758766		★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	BEFREE	30364054		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	29426373, 8605724		★☆☆☆☆ Found in Text Mining only
Combined immunodeficiency	Severe combined immunodeficiency disease	BEFREE	24230999, 29051008		★☆☆☆☆ Found in Text Mining only
Combined immunodeficiency	Severe combined immunodeficiency disease	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Congenital absence of thymus	Aplasia of the thymus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of thymus	Congenital Hypoplasia Of Thymus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	30226845		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	28942872, 30226845, 30274618, 30971957		★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	30226845		★☆☆☆☆ Found in Text Mining only
Delirium, Dementia, Amnestic, Cognitive Disorders	Delirium, Dementia, Amnestic, Cognitive Disorders	BEFREE	31561750		★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	28080106, 28421616		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	30226845		★☆☆☆☆ Found in Text Mining only
Dyslipidemias	Dyslipidemias	Pubtator	30365130	Associate	★☆☆☆☆ Found in Text Mining only
Dystrophia myotonica 2	Myotonic dystrophy	BEFREE	30274618		★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	BEFREE	24290003		★☆☆☆☆ 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
Genital ulcers	Genital ulcers	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hashimoto Disease	Hashimoto Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	28562329	Associate	★☆☆☆☆ Found in Text Mining only
Hypoproteinemia	Hypoproteinemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypothyroidism	Hypothyroidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	23758766		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	26476407		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory bowel disease	Pubtator	26476407	Associate	★☆☆☆☆ Found in Text Mining only
Juvenile arthritis	Arthritis	HPO_DG			★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	17440052, 7669664, 8795692		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	8795692		★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	LHGDN	12569164		★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	17384673, 17440052, 9536262		★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Lymphopenia	Lymphopenia	BEFREE	23264026		★☆☆☆☆ Found in Text Mining only
Lymphoproliferative Disorders	Lymphoproliferative Disorder	BEFREE	16254335		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	28548129		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	12672069		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	12750268		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	11692156		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	31293961		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	30429970		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	11593034, 12787138, 15054864		★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	28080106, 28421616		★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	BEFREE	16358361		★☆☆☆☆ Found in Text Mining only
Migraine Disorders	Migraine	GWASDB_DG	23793025		★☆☆☆☆ Found in Text Mining only
Migraine Disorders	Migraine	GWASCAT_DG	23793025		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	12393500, 23420490, 25996477, 28751557, 31115560		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	12014649, 12174877, 12672069, 19138403, 19363465, 19789323, 20667470, 20979627, 21693026, 23673296, 24583847, 25615422, 25939439, 25996477, 30429970, 31115560, 8872859, 9536262		★☆☆☆☆ Found in Text Mining only
Nephrotic Syndrome	Nephrotic Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	25563294	Associate	★☆☆☆☆ Found in Text Mining only
Neurocognitive Disorders	Neurocognitive Disorders	BEFREE	31561750		★☆☆☆☆ Found in Text Mining only
Omenn Syndrome	Omenn Syndrome	CLINVAR_DG	15071507, 15731174, 19953608, 25917813		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Omenn Syndrome	Omenn Syndrome	BEFREE	15731174, 17176792, 19912631, 19953608, 9132827		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Omenn Syndrome	Omenn Syndrome	UNIPROT_DG	15731174		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Omenn Syndrome	Omenn Syndrome	GENOMICS_ENGLAND_DG	15731174		★★☆☆☆ 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
Oral Ulcer	Oral Ulcer	HPO_DG			★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	23528710		★☆☆☆☆ Found in Text Mining only
Otitis Media	Otitis media	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ovarian Carcinoma	Ovarian Carcinoma	BEFREE	12672069		★☆☆☆☆ Found in Text Mining only
Pancreatic Ductal Adenocarcinoma	Pancreatic adenocarcinoma	BEFREE	27542263		★☆☆☆☆ Found in Text Mining only
Precursor B-cell lymphoblastic leukemia	Lymphoblastic Leukemia	BEFREE	12406895		★☆☆☆☆ Found in Text Mining only
Precursor B-Cell Lymphoblastic Leukemia-Lymphoma	Lymphoblastic Leukemia	BEFREE	8098968		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	12750268		★☆☆☆☆ Found in Text Mining only
Recurrent aphthous ulcer	Aphthous Ulcer	HPO_DG			★☆☆☆☆ Found in Text Mining only
Respiratory Tract Infections	Respiratory system infectious disease	Pubtator	26476407	Associate	★☆☆☆☆ 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	21547898		★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	BEFREE	20979627		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Severe Combined Immunodeficiency	Severe combined immunodeficiency disease	BEFREE	12592555, 12921762, 15811628, 16540517, 17062750, 17384673, 18701881, 19912631, 19953608, 22527898, 24144642, 24408206, 25917813, 26055221, 26361272, 27269786, 27611239, 28080106, 28747915, 30565242, 30630113, 7718881, 8647176		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Severe Combined Immunodeficiency	Severe combined immunodeficiency disease	LHGDN	17169382		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Severe Combined Immunodeficiency	Severe combined immunodeficiency	Pubtator	19912631, 22527898, 24144642, 25917813, 26476407, 29051008, 30154114, 32265901, 32691468, 32754152, 34220820, 35303369, 36546626, 40457861	Associate	★★☆☆☆ 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	9132827		★☆☆☆☆ Found in Text Mining only
Severe combined immunodeficiency due to DCLRE1C deficiency	Severe combined immunodeficiency disease	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Severe combined immunodeficiency with sensitivity to ionizing radiation	Combined Immunodeficiency	UNIPROT_DG	11336668, 12055248, 12406895, 12569164, 12592555, 12921762		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Severe combined immunodeficiency with sensitivity to ionizing radiation	Combined Immunodeficiency	CLINVAR_DG	11336668, 12569164, 19953608, 21147755, 25917813		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Severe combined immunodeficiency with sensitivity to ionizing radiation	Combined Immunodeficiency	BEFREE	12569164		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Severe combined immunodeficiency with sensitivity to ionizing radiation	Combined Immunodeficiency	GENOMICS_ENGLAND_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Severe combined immunodeficiency with sensitivity to ionizing radiation	Combined Immunodeficiency	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEVERE COMBINED IMMUNODEFICIENCY, ATHABASKAN-TYPE	Severe combined immunodeficiency disease	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Severe combined immunodeficiency, atypical	Severe combined immunodeficiency disease	BEFREE	26476407		★☆☆☆☆ Found in Text Mining only
SEVERE COMBINED IMMUNODEFICIENCY, PARTIAL	Severe combined immunodeficiency disease	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Squamous cell carcinoma	Carcinoma	BEFREE	8599226		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	11692156		★☆☆☆☆ Found in Text Mining only
Thyroiditis	Thyroiditis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Vitiligo	Vitiligo	HPO_DG			★☆☆☆☆ Found in Text Mining only
X-Linked Combined Immunodeficiency Diseases	Combined Immunodeficiency, X-Linked	BEFREE	9633977		★☆☆☆☆ Found in Text Mining only