PRKDC (protein kinase, DNA-activated, catalytic subunit)

Gene

• Entrez ID: 5591
• Gene name: Protein kinase, DNA-activated, catalytic subunit
• Gene symbol: PRKDC
• Synonyms (NCBI Gene): DNA-PKC, DNA-PKcs, DNAPK, DNAPKc, DNPK1, HYRC, HYRC1, IMD26, S473K, XRCC7, p350
• Chromosome: 8
• Chromosome location: 8q11.21
• Summary: This gene encodes the catalytic subunit of the DNA-dependent protein kinase (DNA-PK). It functions with the Ku70/Ku80 heterodimer protein in DNA double strand break repair and recombination. The protein encoded is a member of the PI3/PI4-kinase family.[pr

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs191531119	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs200729621	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs202110076	A>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs372587440	C>G,T	Likely-pathogenic	Missense variant, coding sequence variant
rs375277772	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs546905091	TT>-,T,TTT,TTTT	Pathogenic	Intron variant
rs587777685	A>C,G	Pathogenic	Missense variant, coding sequence variant
rs587777686	G>A	Pathogenic	Missense variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT005558	hsa-miR-101-5p	Luciferase reporter assay, qRT-PCR	20617180
MIRT005558	hsa-miR-101-5p	Luciferase reporter assay, qRT-PCR	20617180
MIRT439897	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT439897	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT736402	hsa-miR-101-3p	Luciferase reporter assay, Western blotting, qRT-PCR, Flow cytometry	33226571
MIRT439897	hsa-miR-218-5p	Luciferase reporter assay, Western blotting, qRT-PCR	33759399
MIRT1263582	hsa-miR-103a	CLIP-seq
MIRT1263583	hsa-miR-107	CLIP-seq
MIRT1263584	hsa-miR-1237	CLIP-seq
MIRT1263585	hsa-miR-1248	CLIP-seq
MIRT1263586	hsa-miR-1262	CLIP-seq
MIRT1263587	hsa-miR-1283	CLIP-seq
MIRT1263588	hsa-miR-1288	CLIP-seq
MIRT1263589	hsa-miR-1301	CLIP-seq
MIRT1263590	hsa-miR-1323	CLIP-seq
MIRT1263591	hsa-miR-136	CLIP-seq
MIRT1263592	hsa-miR-1908	CLIP-seq
MIRT1263593	hsa-miR-2116	CLIP-seq
MIRT1263594	hsa-miR-218	CLIP-seq
MIRT1263595	hsa-miR-3065-5p	CLIP-seq
MIRT1263596	hsa-miR-3123	CLIP-seq
MIRT1263597	hsa-miR-3140-3p	CLIP-seq
MIRT1263598	hsa-miR-3149	CLIP-seq
MIRT1263599	hsa-miR-3163	CLIP-seq
MIRT1263600	hsa-miR-3169	CLIP-seq
MIRT1263601	hsa-miR-3199	CLIP-seq
MIRT1263602	hsa-miR-320a	CLIP-seq
MIRT1263603	hsa-miR-320b	CLIP-seq
MIRT1263604	hsa-miR-320c	CLIP-seq
MIRT1263605	hsa-miR-320d	CLIP-seq
MIRT1263606	hsa-miR-337-3p	CLIP-seq
MIRT1263607	hsa-miR-3662	CLIP-seq
MIRT1263608	hsa-miR-3911	CLIP-seq
MIRT1263609	hsa-miR-4273	CLIP-seq
MIRT1263610	hsa-miR-4326	CLIP-seq
MIRT1263611	hsa-miR-4429	CLIP-seq
MIRT1263612	hsa-miR-4455	CLIP-seq
MIRT1263613	hsa-miR-4515	CLIP-seq
MIRT1263614	hsa-miR-4533	CLIP-seq
MIRT1263615	hsa-miR-4637	CLIP-seq
MIRT1263616	hsa-miR-4677-5p	CLIP-seq
MIRT1263617	hsa-miR-4691-5p	CLIP-seq
MIRT1263618	hsa-miR-4701-3p	CLIP-seq
MIRT1263619	hsa-miR-4717-3p	CLIP-seq
MIRT1263620	hsa-miR-4728-3p	CLIP-seq
MIRT1263621	hsa-miR-4747-5p	CLIP-seq
MIRT1263622	hsa-miR-4777-5p	CLIP-seq
MIRT1263623	hsa-miR-4788	CLIP-seq
MIRT1263624	hsa-miR-488	CLIP-seq
MIRT1263625	hsa-miR-499-3p	CLIP-seq
MIRT1263626	hsa-miR-499a-3p	CLIP-seq
MIRT1263627	hsa-miR-5047	CLIP-seq
MIRT1263628	hsa-miR-518d-5p	CLIP-seq
MIRT1263629	hsa-miR-519b-5p	CLIP-seq
MIRT1263630	hsa-miR-519c-5p	CLIP-seq
MIRT1263631	hsa-miR-520c-5p	CLIP-seq
MIRT1263632	hsa-miR-526a	CLIP-seq
MIRT1263633	hsa-miR-548o	CLIP-seq
MIRT1263634	hsa-miR-587	CLIP-seq
MIRT1263635	hsa-miR-609	CLIP-seq
MIRT1263636	hsa-miR-630	CLIP-seq
MIRT1263637	hsa-miR-663	CLIP-seq
MIRT1263638	hsa-miR-765	CLIP-seq
MIRT1263639	hsa-miR-300	CLIP-seq
MIRT1263640	hsa-miR-330-3p	CLIP-seq
MIRT1263641	hsa-miR-381	CLIP-seq
MIRT1263642	hsa-miR-3924	CLIP-seq
MIRT1263643	hsa-miR-518a-5p	CLIP-seq
MIRT1263644	hsa-miR-527	CLIP-seq
MIRT2077586	hsa-miR-1	CLIP-seq
MIRT1263587	hsa-miR-1283	CLIP-seq
MIRT1263588	hsa-miR-1288	CLIP-seq
MIRT1263592	hsa-miR-1908	CLIP-seq
MIRT2077587	hsa-miR-206	CLIP-seq
MIRT1263594	hsa-miR-218	CLIP-seq
MIRT1263598	hsa-miR-3149	CLIP-seq
MIRT1263600	hsa-miR-3169	CLIP-seq
MIRT1263601	hsa-miR-3199	CLIP-seq
MIRT1263606	hsa-miR-337-3p	CLIP-seq
MIRT2077588	hsa-miR-3673	CLIP-seq
MIRT1263608	hsa-miR-3911	CLIP-seq
MIRT1263610	hsa-miR-4326	CLIP-seq
MIRT1263612	hsa-miR-4455	CLIP-seq
MIRT1263613	hsa-miR-4515	CLIP-seq
MIRT1263614	hsa-miR-4533	CLIP-seq
MIRT1263619	hsa-miR-4717-3p	CLIP-seq
MIRT1263620	hsa-miR-4728-3p	CLIP-seq
MIRT1263621	hsa-miR-4747-5p	CLIP-seq
MIRT2077589	hsa-miR-490-5p	CLIP-seq
MIRT1263625	hsa-miR-499-3p	CLIP-seq
MIRT1263626	hsa-miR-499a-3p	CLIP-seq
MIRT1263634	hsa-miR-587	CLIP-seq
MIRT1263635	hsa-miR-609	CLIP-seq
MIRT2077590	hsa-miR-613	CLIP-seq
MIRT1263636	hsa-miR-630	CLIP-seq
MIRT1263637	hsa-miR-663	CLIP-seq
MIRT1263638	hsa-miR-765	CLIP-seq
MIRT2304120	hsa-miR-455-5p	CLIP-seq
MIRT2304121	hsa-miR-944	CLIP-seq
MIRT2601080	hsa-miR-1238	CLIP-seq
MIRT2601081	hsa-miR-1278	CLIP-seq
MIRT2601082	hsa-miR-1290	CLIP-seq
MIRT2601083	hsa-miR-145	CLIP-seq
MIRT2601084	hsa-miR-188-5p	CLIP-seq
MIRT2601085	hsa-miR-203	CLIP-seq
MIRT1263594	hsa-miR-218	CLIP-seq
MIRT1263597	hsa-miR-3140-3p	CLIP-seq
MIRT1263598	hsa-miR-3149	CLIP-seq
MIRT1263640	hsa-miR-330-3p	CLIP-seq
MIRT2601086	hsa-miR-3616-5p	CLIP-seq
MIRT2601087	hsa-miR-3647-5p	CLIP-seq
MIRT2601088	hsa-miR-3671	CLIP-seq
MIRT2077588	hsa-miR-3673	CLIP-seq
MIRT2601089	hsa-miR-3674	CLIP-seq
MIRT2601090	hsa-miR-3682-5p	CLIP-seq
MIRT2601091	hsa-miR-371-5p	CLIP-seq
MIRT2601092	hsa-miR-371b-5p	CLIP-seq
MIRT2601093	hsa-miR-3915	CLIP-seq
MIRT1263642	hsa-miR-3924	CLIP-seq
MIRT2601094	hsa-miR-3928	CLIP-seq
MIRT2601095	hsa-miR-3935	CLIP-seq
MIRT1263614	hsa-miR-4533	CLIP-seq
MIRT2601096	hsa-miR-4670-3p	CLIP-seq
MIRT1263617	hsa-miR-4691-5p	CLIP-seq
MIRT2601097	hsa-miR-4698	CLIP-seq
MIRT1263619	hsa-miR-4717-3p	CLIP-seq
MIRT2601098	hsa-miR-4733-5p	CLIP-seq
MIRT1263621	hsa-miR-4747-5p	CLIP-seq
MIRT2601099	hsa-miR-4760-3p	CLIP-seq
MIRT2601100	hsa-miR-513c	CLIP-seq
MIRT2601101	hsa-miR-514b-5p	CLIP-seq
MIRT1263643	hsa-miR-518a-5p	CLIP-seq
MIRT1263644	hsa-miR-527	CLIP-seq
MIRT2601102	hsa-miR-573	CLIP-seq
MIRT2601103	hsa-miR-579	CLIP-seq
MIRT1263634	hsa-miR-587	CLIP-seq
MIRT2601104	hsa-miR-607	CLIP-seq
MIRT1263636	hsa-miR-630	CLIP-seq
MIRT2601105	hsa-miR-664	CLIP-seq
MIRT2601080	hsa-miR-1238	CLIP-seq
MIRT2601081	hsa-miR-1278	CLIP-seq
MIRT2601082	hsa-miR-1290	CLIP-seq
MIRT2601084	hsa-miR-188-5p	CLIP-seq
MIRT2601085	hsa-miR-203	CLIP-seq
MIRT1263594	hsa-miR-218	CLIP-seq
MIRT1263597	hsa-miR-3140-3p	CLIP-seq
MIRT1263598	hsa-miR-3149	CLIP-seq
MIRT1263640	hsa-miR-330-3p	CLIP-seq
MIRT2601086	hsa-miR-3616-5p	CLIP-seq
MIRT2601087	hsa-miR-3647-5p	CLIP-seq
MIRT2601088	hsa-miR-3671	CLIP-seq
MIRT2601093	hsa-miR-3915	CLIP-seq
MIRT1263642	hsa-miR-3924	CLIP-seq
MIRT2601094	hsa-miR-3928	CLIP-seq
MIRT1263614	hsa-miR-4533	CLIP-seq
MIRT2601096	hsa-miR-4670-3p	CLIP-seq
MIRT1263617	hsa-miR-4691-5p	CLIP-seq
MIRT1263619	hsa-miR-4717-3p	CLIP-seq
MIRT2601098	hsa-miR-4733-5p	CLIP-seq
MIRT1263621	hsa-miR-4747-5p	CLIP-seq
MIRT2601099	hsa-miR-4760-3p	CLIP-seq
MIRT1263643	hsa-miR-518a-5p	CLIP-seq
MIRT1263644	hsa-miR-527	CLIP-seq
MIRT2601102	hsa-miR-573	CLIP-seq
MIRT2601103	hsa-miR-579	CLIP-seq
MIRT1263634	hsa-miR-587	CLIP-seq
MIRT2601104	hsa-miR-607	CLIP-seq
MIRT1263636	hsa-miR-630	CLIP-seq
MIRT2601105	hsa-miR-664	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0000460	Process	Maturation of 5.8S rRNA	IDA	32103174
GO:0000723	Process	Telomere maintenance	IBA
GO:0000723	Process	Telomere maintenance	IEA
GO:0000723	Process	Telomere maintenance	IEA
GO:0000724	Process	Double-strand break repair via homologous recombination	IDA	27338793, 27797818
GO:0000781	Component	Chromosome, telomeric region	HDA	19135898
GO:0000785	Component	Chromatin	IDA	29478807
GO:0001756	Process	Somitogenesis	IEA
GO:0001933	Process	Negative regulation of protein phosphorylation	ISS
GO:0002218	Process	Activation of innate immune response	IDA	28712728
GO:0002326	Process	B cell lineage commitment	IEA
GO:0002327	Process	Immature B cell differentiation	IEA
GO:0002328	Process	Pro-B cell differentiation	IEA
GO:0002360	Process	T cell lineage commitment	IEA
GO:0002376	Process	Immune system process	IEA
GO:0003677	Function	DNA binding	IEA
GO:0003690	Function	Double-stranded DNA binding	IDA	22504299
GO:0003690	Function	Double-stranded DNA binding	IEA
GO:0003723	Function	RNA binding	HDA	22658674, 22681889
GO:0004672	Function	Protein kinase activity	IDA	7671312
GO:0004672	Function	Protein kinase activity	IMP	22504299
GO:0004672	Function	Protein kinase activity	TAS	7671312
GO:0004674	Function	Protein serine/threonine kinase activity	IBA
GO:0004674	Function	Protein serine/threonine kinase activity	IDA	15262962, 19303849, 24485452, 26237645, 29478807, 32103174, 33273464, 35460603
GO:0004674	Function	Protein serine/threonine kinase activity	IEA
GO:0004674	Function	Protein serine/threonine kinase activity	TAS
GO:0004677	Function	DNA-dependent protein kinase activity	IDA	15194694
GO:0004677	Function	DNA-dependent protein kinase activity	IEA
GO:0005515	Function	Protein binding	IPI	9442054, 17308091, 18026119, 19303849, 19833092, 20023628, 20085707, 20711232, 21575865, 22504299, 22529269, 22977523, 24365180, 25303530, 25749521, 25852083, 25941166, 26175416, 26237645, 26496610, 32832608, 33961781, 35271311
GO:0005524	Function	ATP binding	IEA
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	22504299, 32103174
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005667	Component	Transcription regulator complex	IDA	19303849
GO:0005730	Component	Nucleolus	IDA	27829214, 32103174
GO:0005730	Component	Nucleolus	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005958	Component	DNA-dependent protein kinase-DNA ligase 4 complex	IDA	15194694, 34352203
GO:0006281	Process	DNA repair	IDA	20545304
GO:0006281	Process	DNA repair	IEA
GO:0006302	Process	Double-strand break repair	IBA
GO:0006302	Process	Double-strand break repair	IEA
GO:0006302	Process	Double-strand break repair	IMP	18710952
GO:0006303	Process	Double-strand break repair via nonhomologous end joining	IEA
GO:0006303	Process	Double-strand break repair via nonhomologous end joining	IEA
GO:0006303	Process	Double-strand break repair via nonhomologous end joining	NAS	10207111
GO:0006303	Process	Double-strand break repair via nonhomologous end joining	TAS
GO:0006310	Process	DNA recombination	IEA
GO:0006468	Process	Protein phosphorylation	IDA	26237645
GO:0006468	Process	Protein phosphorylation	IMP	22504299
GO:0006974	Process	DNA damage response	IDA	26237645, 29478807, 35460603
GO:0006974	Process	DNA damage response	IEA
GO:0007420	Process	Brain development	IEA
GO:0007507	Process	Heart development	IEA
GO:0008630	Process	Intrinsic apoptotic signaling pathway in response to DNA damage	IBA
GO:0008630	Process	Intrinsic apoptotic signaling pathway in response to DNA damage	IEA
GO:0010212	Process	Response to ionizing radiation	IEA
GO:0010332	Process	Response to gamma radiation	IEA
GO:0016020	Component	Membrane	HDA	19946888
GO:0016233	Process	Telomere capping	IMP	18710952
GO:0016301	Function	Kinase activity	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0018105	Process	Peptidyl-serine phosphorylation	IDA	15194694
GO:0018105	Process	Peptidyl-serine phosphorylation	IDA	32103174
GO:0018107	Process	Peptidyl-threonine phosphorylation	IDA	32103174
GO:0019899	Function	Enzyme binding	IEA
GO:0019904	Function	Protein domain specific binding	IPI	22504299
GO:0030098	Process	Lymphocyte differentiation	IEA
GO:0031297	Process	Replication fork processing	IDA	27338793, 27797818, 29478807
GO:0031571	Process	Mitotic G1 DNA damage checkpoint signaling	IMP	21731742
GO:0031648	Process	Protein destabilization	IEA
GO:0032040	Component	Small-subunit processome	IDA	32103174
GO:0032869	Process	Cellular response to insulin stimulus	IMP	19303849
GO:0032991	Component	Protein-containing complex	IMP	22504299
GO:0032993	Component	Protein-DNA complex	IDA	22504299
GO:0033077	Process	T cell differentiation in thymus	IEA
GO:0033151	Process	V(D)J recombination	IEA
GO:0033152	Process	Immunoglobulin V(D)J recombination	IBA
GO:0033152	Process	Immunoglobulin V(D)J recombination	IEA
GO:0033153	Process	T cell receptor V(D)J recombination	IEA
GO:0034462	Process	Small-subunit processome assembly	IDA	32103174
GO:0034511	Function	U3 snoRNA binding	IDA	32103174
GO:0035234	Process	Ectopic germ cell programmed cell death	IEA
GO:0035979	Function	Histone H2AXS139 kinase activity	IDA	14627815, 16046194
GO:0036211	Process	Protein modification process	TAS	7671312
GO:0042254	Process	Ribosome biogenesis	IEA
GO:0042752	Process	Regulation of circadian rhythm	IEA
GO:0042752	Process	Regulation of circadian rhythm	ISS
GO:0043065	Process	Positive regulation of apoptotic process	IEA
GO:0043066	Process	Negative regulation of apoptotic process	IMP	24485452
GO:0045087	Process	Innate immune response	IEA
GO:0045621	Process	Positive regulation of lymphocyte differentiation	IEA
GO:0045621	Process	Positive regulation of lymphocyte differentiation	ISS
GO:0045648	Process	Positive regulation of erythrocyte differentiation	IEA
GO:0045648	Process	Positive regulation of erythrocyte differentiation	ISS
GO:0045727	Process	Positive regulation of translation	IEA
GO:0045727	Process	Positive regulation of translation	ISS
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IMP	19303849
GO:0048511	Process	Rhythmic process	IEA
GO:0048660	Process	Regulation of smooth muscle cell proliferation	IMP	25852083
GO:0050678	Process	Regulation of epithelial cell proliferation	IMP	18710952
GO:0061629	Function	RNA polymerase II-specific DNA-binding transcription factor binding	IPI	19303849
GO:0070418	Component	DNA-dependent protein kinase complex	IPI	28840859
GO:0070419	Component	Nonhomologous end joining complex	IDA	20383123, 25941166
GO:0071168	Process	Protein localization to chromatin	IDA	27338793, 27797818
GO:0080135	Process	Regulation of cellular response to stress	IEA
GO:0097681	Process	Double-strand break repair via alternative nonhomologous end joining	TAS	18710952
GO:0106310	Function	Protein serine kinase activity	IEA
GO:0140861	Process	DNA repair-dependent chromatin remodeling	IDA	29478807
GO:0140896	Process	CGAS/STING signaling pathway	IDA	32911482, 32912999
GO:0160049	Process	Negative regulation of cGAS/STING signaling pathway	IDA	35460603
GO:0160049	Process	Negative regulation of cGAS/STING signaling pathway	IDA	33273464
GO:1902036	Process	Regulation of hematopoietic stem cell differentiation	IEA
GO:1902036	Process	Regulation of hematopoietic stem cell differentiation	ISS
GO:1905221	Process	Positive regulation of platelet formation	IEA
GO:1905221	Process	Positive regulation of platelet formation	ISS
GO:2001034	Process	Positive regulation of double-strand break repair via nonhomologous end joining	IDA	26237645

Other IDs

• MIM: 600899
• HGNC: 9413
• e!Ensembl: ENSG00000253729

Protein

• UniProt ID: P78527
• Protein name: DNA-dependent protein kinase catalytic subunit (DNA-PK catalytic subunit) (DNA-PKcs) (EC 2.7.11.1) (DNPK1) (Ser-473 kinase) (S473K) (p460)
• Protein function: Serine/threonine-protein kinase that acts as a molecular sensor for DNA damage (PubMed:11955432, PubMed:12649176, PubMed:14734805, PubMed:33854234). Involved in DNA non-homologous end joining (NHEJ) required for double-strand break (DSB) repair
• PDB: 5LUQ, 5W1R, 5Y3R, 6ZFP, 6ZH2, 6ZH4, 6ZH6, 6ZH8, 6ZHA, 6ZHE, 7K0Y, 7K10, 7K11, 7K19, 7K1B, 7K1J, 7K1K, 7K1N, 7LT3, 7NFC, 7NFE, 7OTM, 7OTP, 7OTV, 7OTW, 7OTY, 7SGL, 7SU3, 7SUD, 7TYR, 7Z87, 7Z88, 8BH3, 8BHV, 8BHY, 8BOT, 8EZ9, 8EZA, 8EZB, 8RD4
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF08163	NUC194	1816 → 2202	NUC194 domain	Domain
  PF02259	FAT	3023 → 3470	FAT domain	Family
  PF00454	PI3_PI4_kinase	3747 → 4015	Phosphatidylinositol 3- and 4-kinase	Family
  PF02260	FATC	4097 → 4128	FATC domain	Family

• Sequence:

  MAGSGAGVRCSLLRLQETLSAADRCGAALAGHQLIRGLGQECVLSSSPAVLALQTSLVFS
  RDFGLLVFVRKSLNSIEFRECREEILKFLCIFLEKMGQKIAPYSVEIKNTCTSVYTKDRA
  AKCKIPALDLLIKLLQTFRSSRLMDEFKIGELFSKFYGELALKKKIPDTVLEKVYELLGL
  LGEVHPSEMINNAENLFRAFLGELKTQMTSAVREPKLPVLAGCLKGLSSLLCNFTKSMEE
  DPQTSREIFNFVLKAIRPQIDLKRYAVPSAGLRLFALHASQFSTCLLDNYVSLFEVLLKW
  CAHTNVELKKAALSALESFLKQVSNMVAKNAEMHKNKLQYFMEQFYGIIRNVDSNNKELS
  IAIRGYGLFAGPCKVINAKDVDFMYVELIQRCKQMFLTQTDTGDDRVYQMPSFLQSVASV
  LLYLDTVPEVYTPVLEHLVVMQIDSFPQYSPKMQLVCCRAIVKVFLALAAKGPVLRNCIS
  TVVHQGLIRICSKPVVLPKGPESESEDHRASGEVRTGKWKVPTYKDYVDLFRHLLSSDQM
  MDSILADEAFFSVNSSSESLNHLLYDEFVKSVLKIVEKLDLTLEIQTVGEQENGDEAPGV
  WMIPTSDPAANLHPAKPKDFSAFINLVEFCREILPEKQAEFFEPWVYSFSYELILQSTRL
  PLISGFYKLLSITVRNAKKIKYFEGVSPKSLKHSPEDPEKYSCFALFVKFGKEVAVKMKQ
  YKDELLASCLTFLLSLPHNIIELDVRAYVPALQMAFKLGLSYTPLAEVGLNALEEWSIYI
  DRHVMQPYYKDILPCLDGYLKTSALSDETKNNWEVSALSRAAQKGFNKVVLKHLKKTKNL
  SSNEAISLEEIRIRVVQMLGSLGGQINKNLLTVTSSDEMMKSYVAWDREKRLSFAVPFRE
  MKPVIFLDVFLPRVTELALTASDRQTKVAACELLHSMVMFMLGKATQMPEGGQGAPPMYQ
  LYKRTFPVLLRLACDVDQVTRQLYEPLVMQLIHWFTNNKKFESQDTVALLEAILDGIVDP
  VDSTLRDFCGRCIREFLKWSIKQITPQQQEKSPVNTKSLFKRLYSLALHPNAFKRLGASL
  AFNNIYREFREEESLVEQFVFEALVIYMESLALAHADEKSLGTIQQCCDAIDHLCRIIEK
  KHVSLNKAKKRRLPRGFPPSASLCLLDLVKWLLAHCGRPQTECRHKSIELFYKFVPLLPG
  NRSPNLWLKDVLKEEGVSFLINTFEGGGCGQPSGILAQPTLLYLRGPFSLQATLCWLDLL
  LAALECYNTFIGERTVGALQVLGTEAQSSLLKAVAFFLESIAMHDIIAAEKCFGTGAAGN
  RTSPQEGERYNYSKCTVVVRIMEFTTTLLNTSPEGWKLLKKDLCNTHLMRVLVQTLCEPA
  SIGFNIGDVQVMAHLPDVCVNLMKALKMSPYKDILETHLREKITAQSIEELCAVNLYGPD
  AQVDRSRLAAVVSACKQLHRAGLLHNILPSQSTDLHHSVGTELLSLVYKGIAPGDERQCL
  PSLDLSCKQLASGLLELAFAFGGLCERLVSLLLNPAVLSTASLGSSQGSVIHFSHGEYFY
  SLFSETINTELLKNLDLAVLELMQSSVDNTKMVSAVLNGMLDQSFRERANQKHQGLKLAT
  TILQHWKKCDSWWAKDSPLETKMAVLALLAKILQIDSSVSFNTSHGSFPEVFTTYISLLA
  DTKLDLHLKGQAVTLLPFFTSLTGGSLEELRRVLEQLIVAHFPMQSREFPPGTPRFNNYV
  DCMKKFLDALELSQSPMLLELMTEVLCREQQHVMEELFQSSFRRIARRGSCVTQVGLLES
  VYEMFRKDDPRLSFTRQSFVDRSLLTLLWHCSLDALREFFSTIVVDAIDVLKSRFTKLNE
  STFDTQITKKMGYYKILDVMYSRLPKDDVHAKESKINQVFHGSCITEGNELTKTLIKLCY
  DAFTENMAGENQLLERRRLYHCAAYNCAISVICCVFNELKFYQGFLFSEKPEKNLLIFEN
  LIDLKRRYNFPVEVEVPMERKKKYIEIRKEAREAANGDSDGPSYMSSLSYLADSTLSEEM
  SQFDFSTGVQSYSYSSQDPRPATGRFRRREQRDPTVHDDVLELEMDELNRHECMAPLTAL
  VKHMHRSLGPPQGEEDSVPRDLPSWMKFLHGKLGNPIVPLNIRLFLAKLVINTEEVFRPY
  AKHWLSPLLQLAASENNGGEGIHYMVVEIVATILSWTGLATPTGVPKDEVLANRLLNFLM
  KHVFHPKRAVFRHNLEIIKTLVECWKDCLSIPYRLIFEKFSGKDPNSKDNSVGIQLLGIV
  MANDLPPYDPQCGIQSSEYFQALVNNMSFVRYKEVYAAAAEVLGLILRYVMERKNILEES
  LCELVAKQLKQHQNTMEDKFIVCLNKVTKSFPPLADRFMNAVFFLLPKFHGVLKTLCLEV
  VLCRVEGMTELYFQLKSKDFVQVMRHRDDERQKVCLDIIYKMMPKLKPVELRELLNPVVE
  FVSHPSTTCREQMYNILMWIHDNYRDPESETDNDSQEIFKLAKDVLIQGLIDENPGLQLI
  IRNFWSHETRLPSNTLDRLLALNSLYSPKIEVHFLSLATNFLLEMTSMSPDYPNPMFEHP
  LSECEFQEYTIDSDWRFRSTVLTPMFVETQASQGTLQTRTQEGSLSARWPVAGQIRATQQ
  QHDFTLTQTADGRSSFDWLTGSSTDPLVDHTSPSSDSLLFAHKRSERLQRAPLKSVGPDF
  GKKRLGLPGDEVDNKVKGAAGRTDLLRLRRRFMRDQEKLSLMYARKGVAEQKREKEIKSE
  LKMKQDAQVVLYRSYRHGDLPDIQIKHSSLITPLQAVAQRDPIIAKQLFSSLFSGILKEM
  DKFKTLSEKNNITQKLLQDFNRFLNTTFSFFPPFVSCIQDISCQHAALLSLDPAAVSAGC
  LASLQQPVGIRLLEEALLRLLPAELPAKRVRGKARLPPDVLRWVELAKLYRSIGEYDVLR
  GIFTSEIGTKQITQSALLAEARSDYSEAAKQYDEALNKQDWVDGEPTEAEKDFWELASLD
  CYNHLAEWKSLEYCSTASIDSENPPDLNKIWSEPFYQETYLPYMIRSKLKLLLQGEADQS
  LLTFIDKAMHGELQKAILELHYSQELSLLYLLQDDVDRAKYYIQNGIQSFMQNYSSIDVL
  LHQSRLTKLQSVQALTEIQEFISFISKQGNLSSQVPLKRLLNTWTNRYPDAKMDPMNIWD
  DIITNRCFFLSKIEEKLTPLPEDNSMNVDQDGDPSDRMEVQEQEEDISSLIRSCKFSMKM
  KMIDSARKQNNFSLAMKLLKELHKESKTRDDWLVSWVQSYCRLSHCRSRSQGCSEQVLTV
  LKTVSLLDENNVSSYLSKNILAFRDQNILLGTTYRIIANALSSEPACLAEIEEDKARRIL
  ELSGSSSEDSEKVIAGLYQRAFQHLSEAVQAAEEEAQPPSWSCGPAAGVIDAYMTLADFC
  DQQLRKEEENASVIDSAELQAYPALVVEKMLKALKLNSNEARLKFPRLLQIIERYPEETL
  SLMTKEISSVPCWQFISWISHMVALLDKDQAVAVQHSVEEITDNYPQAIVYPFIISSESY
  SFKDTSTGHKNKEFVARIKSKLDQGGVIQDFINALDQLSNPELLFKDWSNDVRAELAKTP
  VNKKNIEKMYERMYAALGDPKAPGLGAFRRKFIQTFGKEFDKHFGKGGSKLLRMKLSDFN
  DITNMLLLKMNKDSKPPGNLKECSPWMSDFKVEFLRNELEIPGQYDGRGKPLPEYHVRIA
  GFDERVTVMASLRRPKRIIIRGHDEREHPFLVKGGEDLRQDQRVEQLFQVMNGILAQDSA
  CSQRALQLRTYSVVPMTSRLGLIEWLENTVTLKDLLLNTMSQEEKAAYLSDPRAPPCEYK
  DWLTKMSGKHDVGAYMLMYKGANRTETVTSFRKRESKVPADLLKRAFVRMSTSPEAFLAL
  RSHFASSHALICISHWILGIGDRHLNNFMVAMETGGVIGIDFGHAFGSATQFLPVPELMP
  FRLTRQFINLMLPMKETGLMYSIMVHALRAFRSDPGLLTNTMDVFVKEPSFDWKNFEQKM
  LKKGGSWIQEINVAEKNWYPRQKICYAKRKLAGANPAVITCDELLLGHEKAPAFRDYVAV
  ARGSKDHNIRAQEPESGLSEETQVKCLMDQATDPNILGRTWEGWEPWM

• Sequence length: 4128

Pathways

KEGG:

Non-homologous end-joining
Cell cycle

Reactome:

Cytosolic sensors of pathogen-associated DNA
IRF3-mediated induction of type I IFN
Nonhomologous End-Joining (NHEJ)
E3 ubiquitin ligases ubiquitinate target proteins

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Immunodeficiency 26 without neurologic abnormalities	Pathogenic	rs587777685	RCV000142389	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Severe combined immunodeficiency due to DNA-PKcs deficiency	Pathogenic	rs587777685, rs587777686	RCV002514770 RCV000142390	★★★★☆ 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
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, ADENOID CYSTIC	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, SQUAMOUS CELL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	-	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEPATIC ENCEPHALOPATHY	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IMMUNODEFICIENCY 26 WITH OR WITHOUT NEUROLOGIC ABNORMALITIES	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG DISEASES	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of breast	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder	-	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Uncertain significance; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microcephaly	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PRKDC-related disorder	Uncertain significance; Conflicting classifications of pathogenicity; Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATIC NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEVERE COMBINED IMMUNODEFICIENCY DUE TO DEOXYRIBONUCLEIC ACID DEPENDENT PROTEIN KINASE CATALYTIC SUBUNIT DEFICIENCY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SUBSTANCE ABUSE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenocarcinoma of large intestine	Colorectal Cancer	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	25815686		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Adenoid Cystic Carcinoma	Adenocarcinoma	CTD_human_DG	23685749		★☆☆☆☆ Found in Text Mining only
Adenomatous Polyposis Coli	Multiple polyposis syndrome	BEFREE	18454178		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	29186589	Associate	★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic lateral sclerosis	Pubtator	33857636	Associate	★☆☆☆☆ Found in Text Mining only
Aneurysm	Aneurysm	Pubtator	29929532	Stimulate	★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	20878914, 25077978	Associate	★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	LHGDN	18952587		★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	Pubtator	18952587	Associate	★☆☆☆☆ Found in Text Mining only
Ataxia Telangiectasia	Ataxia Telangiectasia	LHGDN	14966265, 18644470		★☆☆☆☆ Found in Text Mining only
Ataxia Telangiectasia	Ataxia Telangiectasia	BEFREE	15164794, 31413202		★☆☆☆☆ Found in Text Mining only
Ataxia Telangiectasia	Ataxia telangiectasia	Pubtator	23867477, 23897887, 24021630, 33215756, 9000041	Associate	★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	25842288, 26196376		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune disease	Pubtator	29339359	Associate	★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	18422577, 19815090, 22927776		★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	LHGDN	18422577		★☆☆☆☆ Found in Text Mining only
Bone Marrow Failure Disorders	Bone marrow failure syndromes	Pubtator	29459202, 32103174	Associate	★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain Neoplasms	BEFREE	25307264		★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain neoplasms	Pubtator	25307264	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	11280730, 17351394, 17764108, 18281469, 22634101, 23098447, 24972688, 25205036, 28498431, 31513357		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	10400681, 22815474, 25205036, 27273637, 29133620, 31513357, 35031618, 36732634	Associate	★☆☆☆☆ Found in Text Mining only
Cap Myopathy	Cap myopathy	Pubtator	21629734	Associate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	24136149, 36147467	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	Pubtator	25188299	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	30301934		★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	12378618, 12679910, 21410269, 25337275, 25944161, 27831650, 30301934, 31194786, 33006365, 33411682, 36147467, 36634747	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	24136149	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	25944161	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinoma Large Cell	Large cell carcinoma	Pubtator	35641209	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Merkel Cell	Merkel cell carcinoma	Pubtator	25531179	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	18422577, 19815090, 22927776		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	21723633, 25503126, 29397516, 31055244		★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	35998796	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	34781823, 35440542	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	27246533, 35426246, 36862864	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	28984489		★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Dilated	Dilated cardiomyopathy	Pubtator	12354434	Associate	★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	Pubtator	35732325	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cockayne Syndrome	Cockayne syndrome	Pubtator	21214942	Associate	★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	29186589	Associate	★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	21723633, 24338765, 28224663		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	15254745, 23603433, 26992638, 29987844, 30262880, 31350979		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	24338765, 27690730, 30262880, 31350979, 31530839, 33627384, 35054819, 35758246, 35881546	Associate	★☆☆☆☆ Found in Text Mining only
Combined immunodeficiency	Severe combined immunodeficiency disease	GENOMICS_ENGLAND_DG	25842288		★☆☆☆☆ Found in Text Mining only
Congenital chromosomal disease	Congenital Chromosomal Disease	BEFREE	15164794		★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	27412013		★☆☆☆☆ Found in Text Mining only
Embryonal Rhabdomyosarcoma	Embryonal Rhabdomyosarcoma	BEFREE	27104757		★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	26689674		★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	26689674	Associate	★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	35426246	Associate	★☆☆☆☆ Found in Text Mining only
Familial multiple trichoepitheliomata	Multiple Trichoepithelioma	BEFREE	28751461		★☆☆☆☆ Found in Text Mining only
Fanconi Anemia	Fanconi anemia	Pubtator	11124945, 26603260	Associate	★☆☆☆☆ Found in Text Mining only
Fanconi Anemia	Fanconi Anemia	BEFREE	22499342		★☆☆☆☆ Found in Text Mining only
Fanconi Anemia Complementation Group J	Fanconi anemia	Pubtator	37580814	Associate	★☆☆☆☆ Found in Text Mining only
Fulminant Hepatic Failure with Cerebral Edema	Fulminant Hepatic Failure With Cerebral Edema	CTD_human_DG	21224054		★☆☆☆☆ Found in Text Mining only
Gallbladder Neoplasms	Gallbladder neoplasm	Pubtator	33328484	Associate	★☆☆☆☆ Found in Text Mining only
Genetic Predisposition to Disease	Genetic predisposition to disease	Pubtator	22404984	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	LHGDN	15493013		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	19318434, 21723633, 27185241, 28070830, 29685705		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	19318434, 19933707, 20711342, 22404984, 22770110, 23007634, 31522595, 32732911, 34763650, 36574362, 36732634, 40362634	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	19318434, 21723633, 27185241, 29685705		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	12691524, 26464705, 27811370, 32732911, 33782505, 35414100, 35888608, 36732634, 9705502	Associate	★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	15313891, 20211558, 21108935, 26464705, 27811370		★☆☆☆☆ Found in Text Mining only
Graft vs Host Disease	Graft-versus-host disease	Pubtator	37002788	Associate	★☆☆☆☆ Found in Text Mining only
Hepatic Coma	Hepatic Coma	CTD_human_DG	21224054		★☆☆☆☆ Found in Text Mining only
Hepatic Encephalopathy	Hepatic Encephalopathy	CTD_human_DG	21224054		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatic Stupor	Hepatic Stupor	CTD_human_DG	21224054		★☆☆☆☆ Found in Text Mining only
Hereditary Angioedema Type III	Hereditary angioedema	Pubtator	29339359	Associate	★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	33288855, 40244269	Stimulate	★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	35031618	Associate	★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	31464599		★☆☆☆☆ Found in Text Mining only
Immune System Diseases	Immune system disease	Pubtator	39198533	Associate	★☆☆☆☆ Found in Text Mining only
IMMUNODEFICIENCY 26 WITH OR WITHOUT NEUROLOGIC ABNORMALITIES	Immunodeficiency	UNIPROT_DG	19075392, 23722905		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IMMUNODEFICIENCY 26 WITH OR WITHOUT NEUROLOGIC ABNORMALITIES	Immunodeficiency	ORPHANET_DG	19823081		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IMMUNODEFICIENCY 26 WITH OR WITHOUT NEUROLOGIC ABNORMALITIES	Immunodeficiency	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IMMUNODEFICIENCY 26 WITH OR WITHOUT NEUROLOGIC ABNORMALITIES	Immunodeficiency	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	BEFREE	26255102, 28939872		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney disease	Pubtator	37002788	Associate	★☆☆☆☆ Found in Text Mining only
Laryngeal Squamous Cell Carcinoma	Laryngeal Carcinoma	BEFREE	28819445, 29545847		★☆☆☆☆ Found in Text Mining only
Leiomyosarcoma	Leiomyosarcoma	Pubtator	37143137	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	15010369	Associate	★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	LHGDN	17441731		★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid	Myeloid leukemia	Pubtator	32103174	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	37895013	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	30125602		★☆☆☆☆ Found in Text Mining only
Leukoplakia	Leukoplakia	BEFREE	23437280		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	12378618, 24136149, 25337275, 25480831, 25944161, 30301934		★☆☆☆☆ Found in Text Mining only
Lung diseases	Lung Diseases	CTD_human_DG	17200189		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung Neoplasms	Lung Neoplasms	LHGDN	18644989		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	27341700, 31055244, 33316855, 36862864	Associate	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	BEFREE	31581151		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	37580814, 7957065	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	25756210		★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	23761041		★☆☆☆☆ Found in Text Mining only
Macular Degeneration	Macular degeneration	Pubtator	23204796	Associate	★☆☆☆☆ Found in Text Mining only
Malformations of Cortical Development	Cortical development malformation	Pubtator	23722905	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	11280730, 17351394, 17764108, 18281469, 22634101, 23098447, 24972688, 25111287, 25205036, 28498431, 31513357		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of endometrium	Endometrial Cancer	BEFREE	26689674		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	25503126, 29397516, 31055244		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of oropharynx	Malignant Neoplasm Of Oropharynx	BEFREE	30185662		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	28984489		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	18281469		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	CTD_human_DG	17196815, 25415046		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	20590474, 23108991, 24535266, 26175416, 27856181, 28754673, 31266833		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	17786318, 28970727, 31173270, 31255330, 31591052		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of thyroid	Thyroid cancer	BEFREE	30476230		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	18422577, 19815090, 22927776		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	23108991, 24556366, 25503126, 26471831, 26486089, 27693461, 27789167, 27811370, 28154079, 28819445, 29150048, 31807020		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	24338765, 28224663		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	LHGDN	16000400, 17786349, 18550272		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	18281469		★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	Pubtator	25835728	Associate	★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	21671477		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Melanoma	Pubtator	21671477	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma Cutaneous Malignant	Melanoma	Pubtator	21671477	Stimulate	★☆☆☆☆ Found in Text Mining only
Melanoma Cutaneous Malignant	Melanoma	Pubtator	33057211	Associate	★☆☆☆☆ Found in Text Mining only
Metastatic melanoma	Metastatic Melanoma	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	Pubtator	23722905	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microcephaly	Microcephaly	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mitochondrial Diseases	Mitochondrial disease	Pubtator	38040710	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	19028508, 25790254, 32410217	Associate	★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Carcinoma	Nasopharyngeal carcinoma	Pubtator	17700973, 31289279	Associate	★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Neoplasms	Nasopharyngeal carcinoma	Pubtator	33963177	Associate	★☆☆☆☆ Found in Text Mining only
Necrosis	Necrosis	Pubtator	21679440	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	10571209, 12658736, 17483312, 18546291, 19815090, 20229177, 20617180, 23761041, 24972688, 26152239, 26175416, 26716839, 26992638, 27629740, 27856181, 28486273, 28498431, 30301934, 30606609		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	10037464, 37957169	Associate	★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	26716839, 28270495		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	26716839	Stimulate	★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	33857636	Associate	★☆☆☆☆ Found in Text Mining only
Non-alcoholic Fatty Liver Disease	Non-Alcoholic Fatty Liver Disease	BEFREE	28981157		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	18457328, 24066112, 25921135, 28771739, 30271203		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	28203708		★☆☆☆☆ Found in Text Mining only
Oropharyngeal Carcinoma	Oropharyngeal Carcinoma	BEFREE	30185662		★☆☆☆☆ Found in Text Mining only
Oropharyngeal Neoplasms	Oropharyngeal neoplasm	Pubtator	30185662	Associate	★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	24390088		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	28300555, 37951196, 38216092	Associate	★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	28984489		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	20204287, 23575069, 27629740	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	18281469		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	25002126, 35348737, 36894917	Associate	★☆☆☆☆ Found in Text Mining only
Parathyroid Neoplasms	Parathyroid neoplasm	Pubtator	17227113	Inhibit	★☆☆☆☆ Found in Text Mining only
Primary immune deficiency disorder	immunodeficiency	BEFREE	22499342		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	20590474, 23108991, 24535266, 26175416, 27856181, 28754673, 31266833		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	11571633, 23308052, 27187356, 35078861, 37751307	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic Neoplasms	CTD_human_DG	17196815, 25415046		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	35860812	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	31464599		★☆☆☆☆ Found in Text Mining only
Recurrent aphthous ulcer	Aphthous Ulcer	HPO_DG			★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	27412013		★☆☆☆☆ Found in Text Mining only
Salivary Gland Neoplasms	Salivary gland neoplasms	Pubtator	26035306	Associate	★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	BEFREE	12210059		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	Pubtator	19142223	Associate	★☆☆☆☆ Found in Text Mining only
Seizures	Seizures	Pubtator	23722905	Associate	★☆☆☆☆ Found in Text Mining only
Severe Combined Immunodeficiency	Severe combined immunodeficiency disease	BEFREE	10699181, 19075392, 19823081, 22981234, 23722905, 25987660, 26055221, 29844458, 30125602, 7855601, 9380717		★☆☆☆☆ Found in Text Mining only
Severe Combined Immunodeficiency	Severe combined immunodeficiency	Pubtator	21721379, 28082683, 28750002, 30778343, 35303369	Associate	★☆☆☆☆ Found in Text Mining only
Severe Combined Immunodeficiency	Severe combined immunodeficiency disease	GENOMICS_ENGLAND_DG	25842288		★☆☆☆☆ Found in Text Mining only
Severe Combined Immunodeficiency	Severe combined immunodeficiency disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Severe combined immunodeficiency due to DNA-PKcs deficiency	Immunodeficiency With Neurologic Abnormalities	Orphanet			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Severe combined immunodeficiency with sensitivity to ionizing radiation	Combined Immunodeficiency	BEFREE	19075392		★☆☆☆☆ Found in Text Mining only
Severe combined immunodeficiency with sensitivity to ionizing radiation	Severe combined immunodeficiency	Pubtator	35801871	Associate	★☆☆☆☆ Found in Text Mining only
Sleep Deprivation	Sleep deprivation	Pubtator	10037464, 16528719	Associate	★☆☆☆☆ Found in Text Mining only
Sleep Initiation and Maintenance Disorders	Sleep Disorders	GWASCAT_DG	29520036		★☆☆☆☆ Found in Text Mining only
Small cell carcinoma of lung	Lung carcinoma	BEFREE	25495526, 29397516		★☆☆☆☆ Found in Text Mining only
Small Cell Lung Carcinoma	Small cell lung carcinoma	Pubtator	25495526, 35641209, 36862864, 37116859	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	CTD_human_DG	25125259		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	24576011, 26166223, 31243806		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	14556663, 23437280, 34204447, 35830713, 36768994	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of lung	Lung carcinoma	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	18546291		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	17786318, 28970727, 31173270, 31255330, 31591052		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach Neoplasms	LHGDN	17786318		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	22559327, 24187467, 28970727, 31173270	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid cancer medullary	Medullary thyroid cancer	Pubtator	26065416	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid carcinoma	Thyroid Carcinoma	BEFREE	30476230		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	BEFREE	30476230		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasms	Thyroid cancer	Pubtator	23183621, 26065416, 30476230, 32567663	Associate	★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	30725116	Associate	★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	22927776, 32596394	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	19672258, 23052694	Associate	★☆☆☆☆ Found in Text Mining only
Uveal melanoma	Uveal Melanoma	BEFREE	31480356		★☆☆☆☆ Found in Text Mining only
Werner Syndrome	Werner syndrome	Pubtator	19372586, 20519774, 24429382	Associate	★☆☆☆☆ Found in Text Mining only
Xeroderma Pigmentosum	Xeroderma Pigmentosum	BEFREE	19797196		★☆☆☆☆ Found in Text Mining only
Xeroderma Pigmentosum	Xeroderma pigmentosum	Pubtator	19797196	Associate	★☆☆☆☆ Found in Text Mining only