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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	2067
Gene name	ERCC excision repair 1, endonuclease non-catalytic subunit
Gene symbol	ERCC1
Synonyms (NCBI Gene)	COFS4RAD10UV20
Chromosome	19
Chromosome location	19q13.32
Summary	The product of this gene functions in the nucleotide excision repair pathway, and is required for the repair of DNA lesions such as those induced by UV light or formed by electrophilic compounds including cisplatin. The encoded protein forms a heterodimer

Show/Hide all (8)

SNP ID	Visualize variation	Clinical significance	Consequence
rs11615	A>G	Drug-response, benign	Synonymous variant, coding sequence variant
rs121913027	G>A	Pathogenic	Coding sequence variant, stop gained
rs121913028	G>A,C	Pathogenic	Coding sequence variant, missense variant, synonymous variant
rs149666093	G>A,T	Likely-pathogenic	Missense variant, stop gained, coding sequence variant
rs150584960	C>A,T	Likely-pathogenic	Missense variant, stop gained, coding sequence variant
rs886039224	T>A	Pathogenic	Coding sequence variant, stop gained
rs1454398092	G>A	Likely-pathogenic	Coding sequence variant, stop gained
rs1555787722	A>G	Pathogenic	Splice donor variant

207

Show/Hide all (207)

miRTarBase ID	miRNA	Experiments	Reference
MIRT052171	hsa-let-7b-5p	CLASH	23622248
MIRT038492	hsa-miR-296-3p	CLASH	23622248
MIRT685170	hsa-miR-4768-3p	HITS-CLIP	23313552
MIRT685169	hsa-miR-4459	HITS-CLIP	23313552
MIRT685168	hsa-miR-4433a-3p	HITS-CLIP	23313552
MIRT540593	hsa-miR-6849-3p	HITS-CLIP	23313552
MIRT685167	hsa-miR-3190-5p	HITS-CLIP	23313552
MIRT685166	hsa-miR-3926	HITS-CLIP	23313552
MIRT685165	hsa-miR-3606-5p	HITS-CLIP	23313552
MIRT685164	hsa-miR-548s	HITS-CLIP	23313552
MIRT459723	hsa-miR-140-3p	HITS-CLIP	23706177
MIRT459722	hsa-miR-532-3p	HITS-CLIP	23706177
MIRT459721	hsa-miR-188-3p	HITS-CLIP	23706177
MIRT540596	hsa-miR-4432	HITS-CLIP	23706177
MIRT542240	hsa-miR-508-5p	HITS-CLIP	23706177
MIRT540595	hsa-miR-451b	HITS-CLIP	23706177
MIRT540594	hsa-miR-6501-3p	HITS-CLIP	23706177
MIRT540593	hsa-miR-6849-3p	HITS-CLIP	23706177
MIRT540592	hsa-miR-371b-5p	HITS-CLIP	23706177
MIRT540591	hsa-miR-373-5p	HITS-CLIP	23706177
MIRT540590	hsa-miR-616-5p	HITS-CLIP	23706177
MIRT540589	hsa-miR-371a-5p	HITS-CLIP	23706177
MIRT540588	hsa-miR-372-5p	HITS-CLIP	23706177
MIRT540587	hsa-miR-766-3p	HITS-CLIP	23706177
MIRT540586	hsa-miR-7110-3p	HITS-CLIP	23706177
MIRT540585	hsa-miR-4696	HITS-CLIP	23706177
MIRT540584	hsa-miR-3135a	HITS-CLIP	23706177
MIRT540583	hsa-miR-196a-3p	HITS-CLIP	23706177
MIRT540582	hsa-miR-6512-3p	HITS-CLIP	23706177
MIRT540581	hsa-miR-6720-5p	HITS-CLIP	23706177
MIRT459723	hsa-miR-140-3p	HITS-CLIP	23706177
MIRT459722	hsa-miR-532-3p	HITS-CLIP	23706177
MIRT459721	hsa-miR-188-3p	HITS-CLIP	23706177
MIRT668566	hsa-miR-548ac	HITS-CLIP	23824327
MIRT668565	hsa-miR-548bb-3p	HITS-CLIP	23824327
MIRT668564	hsa-miR-548d-3p	HITS-CLIP	23824327
MIRT668563	hsa-miR-548h-3p	HITS-CLIP	23824327
MIRT668562	hsa-miR-548z	HITS-CLIP	23824327
MIRT668561	hsa-miR-551b-5p	HITS-CLIP	23824327
MIRT668560	hsa-miR-7109-3p	HITS-CLIP	23824327
MIRT668559	hsa-miR-6892-3p	HITS-CLIP	23824327
MIRT668558	hsa-miR-2276-5p	HITS-CLIP	23824327
MIRT668557	hsa-miR-1266-3p	HITS-CLIP	23824327
MIRT668556	hsa-miR-6734-3p	HITS-CLIP	23824327
MIRT668555	hsa-miR-3653-5p	HITS-CLIP	23824327
MIRT668554	hsa-miR-1976	HITS-CLIP	23824327
MIRT668553	hsa-miR-6845-3p	HITS-CLIP	23824327
MIRT668552	hsa-miR-6509-3p	HITS-CLIP	23824327
MIRT668551	hsa-miR-4436b-5p	HITS-CLIP	23824327
MIRT668550	hsa-miR-642a-5p	HITS-CLIP	23824327
MIRT459723	hsa-miR-140-3p	PAR-CLIP	20371350
MIRT459722	hsa-miR-532-3p	PAR-CLIP	20371350
MIRT459721	hsa-miR-188-3p	PAR-CLIP	20371350
MIRT540596	hsa-miR-4432	PAR-CLIP	21572407
MIRT542240	hsa-miR-508-5p	PAR-CLIP	21572407
MIRT540595	hsa-miR-451b	PAR-CLIP	21572407
MIRT540594	hsa-miR-6501-3p	PAR-CLIP	21572407
MIRT540593	hsa-miR-6849-3p	PAR-CLIP	21572407
MIRT540592	hsa-miR-371b-5p	PAR-CLIP	21572407
MIRT540591	hsa-miR-373-5p	PAR-CLIP	21572407
MIRT540590	hsa-miR-616-5p	PAR-CLIP	21572407
MIRT540589	hsa-miR-371a-5p	PAR-CLIP	21572407
MIRT540588	hsa-miR-372-5p	PAR-CLIP	21572407
MIRT540587	hsa-miR-766-3p	PAR-CLIP	21572407
MIRT540586	hsa-miR-7110-3p	PAR-CLIP	21572407
MIRT540585	hsa-miR-4696	PAR-CLIP	21572407
MIRT540584	hsa-miR-3135a	PAR-CLIP	21572407
MIRT540583	hsa-miR-196a-3p	PAR-CLIP	21572407
MIRT540582	hsa-miR-6512-3p	PAR-CLIP	21572407
MIRT540581	hsa-miR-6720-5p	PAR-CLIP	21572407
MIRT540596	hsa-miR-4432	PAR-CLIP	21572407
MIRT540595	hsa-miR-451b	PAR-CLIP	21572407
MIRT540594	hsa-miR-6501-3p	PAR-CLIP	21572407
MIRT540593	hsa-miR-6849-3p	PAR-CLIP	21572407
MIRT540592	hsa-miR-371b-5p	PAR-CLIP	21572407
MIRT540591	hsa-miR-373-5p	PAR-CLIP	21572407
MIRT540590	hsa-miR-616-5p	PAR-CLIP	21572407
MIRT540589	hsa-miR-371a-5p	PAR-CLIP	21572407
MIRT540588	hsa-miR-372-5p	PAR-CLIP	21572407
MIRT540587	hsa-miR-766-3p	PAR-CLIP	21572407
MIRT540586	hsa-miR-7110-3p	PAR-CLIP	21572407
MIRT540585	hsa-miR-4696	PAR-CLIP	21572407
MIRT540584	hsa-miR-3135a	PAR-CLIP	21572407
MIRT540583	hsa-miR-196a-3p	PAR-CLIP	21572407
MIRT540582	hsa-miR-6512-3p	PAR-CLIP	21572407
MIRT540581	hsa-miR-6720-5p	PAR-CLIP	21572407
MIRT459723	hsa-miR-140-3p	PAR-CLIP	23592263
MIRT459722	hsa-miR-532-3p	PAR-CLIP	23592263
MIRT459721	hsa-miR-188-3p	PAR-CLIP	23592263
MIRT459723	hsa-miR-140-3p	PAR-CLIP	23592263
MIRT459722	hsa-miR-532-3p	PAR-CLIP	23592263
MIRT459721	hsa-miR-188-3p	PAR-CLIP	23592263
MIRT733770	hsa-miR-409-3p	Immunoprecipitaion (IP)Luciferase reporter assayqRT-PCRWestern blotting	33014113
MIRT685170	hsa-miR-4768-3p	HITS-CLIP	23313552
MIRT685169	hsa-miR-4459	HITS-CLIP	23313552
MIRT685168	hsa-miR-4433a-3p	HITS-CLIP	23313552
MIRT540593	hsa-miR-6849-3p	HITS-CLIP	23313552
MIRT685167	hsa-miR-3190-5p	HITS-CLIP	23313552
MIRT685166	hsa-miR-3926	HITS-CLIP	23313552
MIRT685165	hsa-miR-3606-5p	HITS-CLIP	23313552
MIRT685164	hsa-miR-548s	HITS-CLIP	23313552
MIRT459723	hsa-miR-140-3p	HITS-CLIP	23706177
MIRT459722	hsa-miR-532-3p	HITS-CLIP	23706177
MIRT459721	hsa-miR-188-3p	HITS-CLIP	23706177
MIRT540596	hsa-miR-4432	HITS-CLIP	23706177
MIRT542240	hsa-miR-508-5p	HITS-CLIP	23706177
MIRT540595	hsa-miR-451b	HITS-CLIP	23706177
MIRT540594	hsa-miR-6501-3p	HITS-CLIP	23706177
MIRT540593	hsa-miR-6849-3p	HITS-CLIP	23706177
MIRT540592	hsa-miR-371b-5p	HITS-CLIP	23706177
MIRT540591	hsa-miR-373-5p	HITS-CLIP	23706177
MIRT540590	hsa-miR-616-5p	HITS-CLIP	23706177
MIRT540589	hsa-miR-371a-5p	HITS-CLIP	23706177
MIRT540588	hsa-miR-372-5p	HITS-CLIP	23706177
MIRT540587	hsa-miR-766-3p	HITS-CLIP	23706177
MIRT540586	hsa-miR-7110-3p	HITS-CLIP	23706177
MIRT540585	hsa-miR-4696	HITS-CLIP	23706177
MIRT540584	hsa-miR-3135a	HITS-CLIP	23706177
MIRT540583	hsa-miR-196a-3p	HITS-CLIP	23706177
MIRT540582	hsa-miR-6512-3p	HITS-CLIP	23706177
MIRT540581	hsa-miR-6720-5p	HITS-CLIP	23706177
MIRT459723	hsa-miR-140-3p	HITS-CLIP	23706177
MIRT459722	hsa-miR-532-3p	HITS-CLIP	23706177
MIRT459721	hsa-miR-188-3p	HITS-CLIP	23706177
MIRT668566	hsa-miR-548ac	HITS-CLIP	23824327
MIRT668565	hsa-miR-548bb-3p	HITS-CLIP	23824327
MIRT668564	hsa-miR-548d-3p	HITS-CLIP	23824327
MIRT668563	hsa-miR-548h-3p	HITS-CLIP	23824327
MIRT668562	hsa-miR-548z	HITS-CLIP	23824327
MIRT668561	hsa-miR-551b-5p	HITS-CLIP	23824327
MIRT668560	hsa-miR-7109-3p	HITS-CLIP	23824327
MIRT668559	hsa-miR-6892-3p	HITS-CLIP	23824327
MIRT668558	hsa-miR-2276-5p	HITS-CLIP	23824327
MIRT668557	hsa-miR-1266-3p	HITS-CLIP	23824327
MIRT668556	hsa-miR-6734-3p	HITS-CLIP	23824327
MIRT668555	hsa-miR-3653-5p	HITS-CLIP	23824327
MIRT668554	hsa-miR-1976	HITS-CLIP	23824327
MIRT668553	hsa-miR-6845-3p	HITS-CLIP	23824327
MIRT668552	hsa-miR-6509-3p	HITS-CLIP	23824327
MIRT668551	hsa-miR-4436b-5p	HITS-CLIP	23824327
MIRT668550	hsa-miR-642a-5p	HITS-CLIP	23824327
MIRT459723	hsa-miR-140-3p	PAR-CLIP	20371350
MIRT459722	hsa-miR-532-3p	PAR-CLIP	20371350
MIRT459721	hsa-miR-188-3p	PAR-CLIP	20371350
MIRT540596	hsa-miR-4432	PAR-CLIP	21572407
MIRT542240	hsa-miR-508-5p	PAR-CLIP	21572407
MIRT540595	hsa-miR-451b	PAR-CLIP	21572407
MIRT540594	hsa-miR-6501-3p	PAR-CLIP	21572407
MIRT540593	hsa-miR-6849-3p	PAR-CLIP	21572407
MIRT540592	hsa-miR-371b-5p	PAR-CLIP	21572407
MIRT540591	hsa-miR-373-5p	PAR-CLIP	21572407
MIRT540590	hsa-miR-616-5p	PAR-CLIP	21572407
MIRT540589	hsa-miR-371a-5p	PAR-CLIP	21572407
MIRT540588	hsa-miR-372-5p	PAR-CLIP	21572407
MIRT540587	hsa-miR-766-3p	PAR-CLIP	21572407
MIRT540586	hsa-miR-7110-3p	PAR-CLIP	21572407
MIRT540585	hsa-miR-4696	PAR-CLIP	21572407
MIRT540584	hsa-miR-3135a	PAR-CLIP	21572407
MIRT540583	hsa-miR-196a-3p	PAR-CLIP	21572407
MIRT540582	hsa-miR-6512-3p	PAR-CLIP	21572407
MIRT540581	hsa-miR-6720-5p	PAR-CLIP	21572407
MIRT540596	hsa-miR-4432	PAR-CLIP	21572407
MIRT540595	hsa-miR-451b	PAR-CLIP	21572407
MIRT540594	hsa-miR-6501-3p	PAR-CLIP	21572407
MIRT540593	hsa-miR-6849-3p	PAR-CLIP	21572407
MIRT540592	hsa-miR-371b-5p	PAR-CLIP	21572407
MIRT540591	hsa-miR-373-5p	PAR-CLIP	21572407
MIRT540590	hsa-miR-616-5p	PAR-CLIP	21572407
MIRT540589	hsa-miR-371a-5p	PAR-CLIP	21572407
MIRT540588	hsa-miR-372-5p	PAR-CLIP	21572407
MIRT540587	hsa-miR-766-3p	PAR-CLIP	21572407
MIRT540586	hsa-miR-7110-3p	PAR-CLIP	21572407
MIRT540585	hsa-miR-4696	PAR-CLIP	21572407
MIRT540584	hsa-miR-3135a	PAR-CLIP	21572407
MIRT540583	hsa-miR-196a-3p	PAR-CLIP	21572407
MIRT540582	hsa-miR-6512-3p	PAR-CLIP	21572407
MIRT540581	hsa-miR-6720-5p	PAR-CLIP	21572407
MIRT459723	hsa-miR-140-3p	PAR-CLIP	23592263
MIRT459722	hsa-miR-532-3p	PAR-CLIP	23592263
MIRT459721	hsa-miR-188-3p	PAR-CLIP	23592263
MIRT459723	hsa-miR-140-3p	PAR-CLIP	23592263
MIRT459722	hsa-miR-532-3p	PAR-CLIP	23592263
MIRT459721	hsa-miR-188-3p	PAR-CLIP	23592263
MIRT968354	hsa-miR-4252	CLIP-seq
MIRT968355	hsa-miR-4537	CLIP-seq
MIRT968356	hsa-miR-4793-3p	CLIP-seq
MIRT968357	hsa-miR-3176	CLIP-seq
MIRT968358	hsa-miR-3663-5p	CLIP-seq
MIRT968359	hsa-miR-3922-3p	CLIP-seq
MIRT968360	hsa-miR-4757-5p	CLIP-seq
MIRT968361	hsa-miR-515-5p	CLIP-seq
MIRT2448920	hsa-miR-1226	CLIP-seq
MIRT2448921	hsa-miR-1470	CLIP-seq
MIRT2448922	hsa-miR-214	CLIP-seq
MIRT2448923	hsa-miR-2355-5p	CLIP-seq
MIRT2448924	hsa-miR-3130-3p	CLIP-seq
MIRT968357	hsa-miR-3176	CLIP-seq
MIRT2448925	hsa-miR-361-3p	CLIP-seq
MIRT2448926	hsa-miR-3619-5p	CLIP-seq
MIRT968359	hsa-miR-3922-3p	CLIP-seq
MIRT2448927	hsa-miR-4530	CLIP-seq
MIRT2448928	hsa-miR-4667-3p	CLIP-seq
MIRT2448929	hsa-miR-4722-5p	CLIP-seq
MIRT2448930	hsa-miR-4738-5p	CLIP-seq
MIRT2448931	hsa-miR-661	CLIP-seq
MIRT2448932	hsa-miR-761	CLIP-seq
MIRT2448933	hsa-miR-767-5p	CLIP-seq

Show/Hide all (2)

Transcription factor	Regulation	Reference
E2F1	Activation	22159227
KAT5	Activation	22159227

Show/Hide all (71)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000014	Function	Single-stranded DNA endodeoxyribonuclease activity	IDA	7559382
GO:0000109	Component	Nucleotide-excision repair complex	IDA	3290851, 7559382, 8197175
GO:0000110	Component	Nucleotide-excision repair factor 1 complex	IBA
GO:0000110	Component	Nucleotide-excision repair factor 1 complex	IDA	10413517
GO:0000720	Process	Pyrimidine dimer repair by nucleotide-excision repair	IEA
GO:0000723	Process	Telomere maintenance	IEA
GO:0000781	Component	Chromosome, telomeric region	IDA	14690602
GO:0001094	Function	TFIID-class transcription factor complex binding	IEA
GO:0003677	Function	DNA binding	IDA	14734547
GO:0003677	Function	DNA binding	IEA
GO:0003684	Function	Damaged DNA binding	IBA
GO:0003684	Function	Damaged DNA binding	IDA	17720715
GO:0003684	Function	Damaged DNA binding	IEA
GO:0003697	Function	Single-stranded DNA binding	IBA
GO:0003697	Function	Single-stranded DNA binding	IDA	16076955, 17720715
GO:0005515	Function	Protein binding	IPI	7559382, 8197175, 9013642, 9722633, 11058119, 14690602, 14706347, 16189514, 16338413, 16491090, 16756962, 17055345, 17289582, 17720715, 17948053, 18812185, 19596235, 19596236, 24780295, 25416956, 25538220, 25910212, 28514442, 31515488, 32296183, 33961781
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005737	Component	Cytoplasm	IEA
GO:0006281	Process	DNA repair	IEA
GO:0006281	Process	DNA repair	IEA
GO:0006281	Process	DNA repair	IMP	25538220
GO:0006289	Process	Nucleotide-excision repair	IDA	3290851
GO:0006289	Process	Nucleotide-excision repair	IDA	22547097
GO:0006289	Process	Nucleotide-excision repair	IEA
GO:0006289	Process	Nucleotide-excision repair	IEA
GO:0006289	Process	Nucleotide-excision repair	IMP	7657672
GO:0006302	Process	Double-strand break repair	IEA
GO:0006302	Process	Double-strand break repair	IEA
GO:0006303	Process	Double-strand break repair via nonhomologous end joining	IMP	14690602
GO:0006310	Process	DNA recombination	IEA
GO:0006310	Process	DNA recombination	IEA
GO:0006312	Process	Mitotic recombination	IBA
GO:0006312	Process	Mitotic recombination	IMP	8811092
GO:0006949	Process	Syncytium formation	IEA
GO:0006974	Process	DNA damage response	IEA
GO:0006974	Process	DNA damage response	IEA
GO:0006979	Process	Response to oxidative stress	IMP	9256505, 17614221
GO:0007281	Process	Germ cell development	IEA
GO:0007283	Process	Spermatogenesis	IEA
GO:0008283	Process	Cell population proliferation	IEA
GO:0008340	Process	Determination of adult lifespan	IEA
GO:0008584	Process	Male gonad development	IEA
GO:0009650	Process	UV protection	IEA
GO:0010165	Process	Response to X-ray	IEA
GO:0032204	Process	Regulation of telomere maintenance	IEA
GO:0032205	Process	Negative regulation of telomere maintenance	IMP	17055345
GO:0035166	Process	Post-embryonic hemopoiesis	IEA
GO:0035264	Process	Multicellular organism growth	IEA
GO:0036297	Process	Interstrand cross-link repair	IEA
GO:0045190	Process	Isotype switching	IEA
GO:0048009	Process	Insulin-like growth factor receptor signaling pathway	IEA
GO:0048468	Process	Cell development	IEA
GO:0048477	Process	Oogenesis	IEA
GO:0051276	Process	Chromosome organization	IEA
GO:0060261	Process	Positive regulation of transcription initiation by RNA polymerase II	IEA
GO:0061819	Process	Telomeric DNA-containing double minutes formation	IMP	14690602
GO:0070522	Component	ERCC4-ERCC1 complex	IBA
GO:0070522	Component	ERCC4-ERCC1 complex	IDA	14690602, 17055345
GO:0070522	Component	ERCC4-ERCC1 complex	IPI	16076955
GO:0070914	Process	UV-damage excision repair	IBA
GO:0090399	Process	Replicative senescence	IEA
GO:0090656	Process	T-circle formation	IEA
GO:0090656	Process	T-circle formation	ISS
GO:1904431	Process	Positive regulation of t-circle formation	IEA
GO:1904431	Process	Positive regulation of t-circle formation	ISS
GO:1905765	Process	Negative regulation of protection from non-homologous end joining at telomere	IMP	14690602
GO:1990599	Function	3' overhang single-stranded DNA endodeoxyribonuclease activity	IMP	14690602
GO:1990841	Function	Promoter-specific chromatin binding	IEA

MIM	HGNC	e!Ensembl
126380	3433	ENSG00000012061

P07992

Protein name

DNA excision repair protein ERCC-1

Protein function

[Isoform 1]: Non-catalytic component of a structure-specific DNA repair endonuclease responsible for the 5'-incision during DNA repair. Responsible, in conjunction with SLX4, for the first step in the repair of interstrand cross-links (ICL). Par

PDB

1Z00 , 2A1I , 2A1J , 2JNW , 2JPD , 2MUT , 6SXA , 6SXB

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF03834	Rad10	100 → 213	Binding domain of DNA repair protein Ercc1 (rad10/Swi10)	Family
PF00633	HHH	259 → 288	Helix-hairpin-helix motif	Motif

Sequence

MDPGKDKEGVPQPSGPPARKKFVIPLDEDEVPPGVAKPLFRSTQSLPTVDTSAQAAPQTY
AEYAISQPLEGAGATCPTGSEPLAGETPNQALKPGAKSNSIIVSPRQRGNPVLKFVRNVP
WEFGDVIPDYVLGQSTCALFLSLRYHNLHPDYIHGRLQSLGKNFALRVLLVQVDVKDPQQ
ALKELAKMCILADCTLILAWSPEEAGRYLETYKAYEQKPADLLMEKLEQDFVSRVTECLT
TVKSVNKTDSQTLLTTFGSLEQLIAASREDLALCPGLGPQKARRLFDVLHEPFLKVP

Sequence length

297

Interactions

View interactions

	KEGG		Reactome
	Platinum drug resistance Nucleotide excision repair Fanconi anemia pathway		HDR through Single Strand Annealing (SSA) Formation of Incision Complex in GG-NER Dual Incision in GG-NER Dual incision in TC-NER Fanconi Anemia Pathway

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)

Show/Hide Causal Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Cerebrooculofacioskeletal syndrome 4	Pathogenic; Likely pathogenic	rs867518898, rs2123520960, rs150584960, rs121913027, rs121913028	RCV001783203 RCV002244103 RCV000490532 RCV000018265 RCV000018266	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cockayne syndrome	Pathogenic	rs121913028	RCV000252117	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (37)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
ALZHEIMER DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANEMIA	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AZOOSPERMIA	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, NON-SMALL-CELL LUNG	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CEREBRO-OCULO-FACIO-SKELETAL SYNDROME	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholestatic liver disease	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
COCKAYNE SYNDROME TYPE 2	—	Disgenet, Orphanet Disgenet, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COCKAYNE SYNDROME, TYPE II	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COFS SYNDROME	—	ClinVar, Orphanet ClinVar, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cutaneous photosensitivity	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ERCC1-related disorder	Likely benign; Benign; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Failure to thrive	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL HYPERLIPIDEMIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GASTROESOPHAGEAL REFLUX DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GENETIC PREDISPOSITION TO DISEASE	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Global proximal tubulopathy	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KIDNEY FAILURE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG NEOPLASMS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MELANOMA	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOPATHY	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NASOPHARYNGEAL CARCINOMA	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-NEOPLASTIC PERIPHERAL NERVOUS SYSTEM DISEASE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERIPHERAL NERVOUS SYSTEM DISEASES	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERIPHERAL NEUROPATHY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Premature ovarian insufficiency	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STOMACH NEOPLASMS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TESTICULAR NEOPLASMS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TRANSIENT ISCHEMIC ATTACK	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UTERINE CERVICAL NEOPLASMS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (336)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Acquired Kyphoscoliosis	Acquired Kyphoscoliosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Actinic keratosis	Actinic keratosis	BEFREE	23648546		★★★★★ ★☆☆☆☆ Found in Text Mining only
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	16723154		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	LHGDN	18478337		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	20975603, 21030862, 21298384, 22374244, 23470290, 24762590, 25921119, 25926247, 28476819, 28927101, 29200955		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenocarcinoma Of Esophagus	Esophageal Cancer	BEFREE	18478337, 21956434		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	20003391, 20003463, 20354815, 22415779, 23581229, 25573098, 27514406, 28128193, 28260069, 30584903, 31521181		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	CTD_human_DG	21327329		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenoma of large intestine	Colorectal adenoma	BEFREE	16817948		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adrenocortical carcinoma	Adrenocortical carcinoma	BEFREE	21045685, 29187510		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adrenocortical Carcinoma	Adrenocortical carcinoma	Pubtator	29187510	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Adult Acute Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	16723154		★★★★★ ★☆☆☆☆ Found in Text Mining only
Agenesis of corpus callosum	Agenesis Of Corpus Callosum	BEFREE	22547773, 24220697, 29187510		★★★★★ ★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	29474873	Inhibit	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Alzheimer Disease	Alzheimer disease	Pubtator	32160291, 37751459	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anaplastic astrocytoma	Anaplastic Astrocytoma	BEFREE	16618782		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	BEFREE	25495407, 25881102		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anemia	Anemia	Pubtator	25881102, 32711417, 39596349	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anthracosis	Anterior uveitis	Pubtator	39283905	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety disorder	Pubtator	34284736	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Aplasia Cutis Congenita	Aplasia Cutis Congenita	BEFREE	22547773, 24220697, 29187510		★★★★★ ★☆☆☆☆ Found in Text Mining only
Arsenic Encephalopathy	Arsenic Encephalopathy	CTD_human_DG	12569548		★★★★★ ★☆☆☆☆ Found in Text Mining only
Arthrogryposis	Arthrogryposis multiplex congenita	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Azoospermia	Azoospermia	BEFREE	18616887		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	18645262, 25269574, 26376998, 30116365		★★★★★ ★☆☆☆☆ Found in Text Mining only
B-CELL MALIGNANCY, LOW-GRADE	Lymphocytic Leukemia	BEFREE	7736449		★★★★★ ★☆☆☆☆ Found in Text Mining only
Benign Neoplasm	Benign Neoplasm	CTD_human_DG	23203453		★★★★★ ★☆☆☆☆ Found in Text Mining only
Benign Neoplasm	Benign Neoplasm	BEFREE	29080834		★★★★★ ★☆☆☆☆ Found in Text Mining only
Bilateral microphthalmos	Microphthalmos	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Biliary Tract Cancer	Biliary Tract Cancer	BEFREE	31255992		★★★★★ ★☆☆☆☆ Found in Text Mining only
Biliary Tract Neoplasms	Biliary tract neoplasms	Pubtator	19443413	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	16284380, 16537713, 17229776, 20061190, 20689757, 21177407, 22616552, 24025563, 29941343		★★★★★ ★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	LHGDN	17229776		★★★★★ ★☆☆☆☆ Found in Text Mining only
Blepharophimosis	Blepharophimosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain Neoplasms	BEFREE	10952103, 26264164, 9234918		★★★★★ ★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain neoplasms	Pubtator	27613841, 29923182	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	12938148, 15958648, 17229776, 18289367, 18402708, 19035454, 19289372, 20331623, 20467918, 21287534, 21376569, 21394302, 21996087, 22274803, 22569898 View all (16 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	12938148, 18289367, 20508946, 21394302, 22035021, 23046742, 23909490, 25253066, 26985954, 27223437, 27571987, 27768589, 30096175, 32558176, 32894086 View all (7 more)	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	27768589	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cancer of Nasopharynx	Nasopharyngeal Cancer	BEFREE	20153243, 26125779		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	16817948, 23912706, 26022132		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Ductal Breast	Ductal carcinoma of breast	Pubtator	39237917	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	26967386, 27858866, 29085212, 30946366	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	29085212	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	16284380, 16537713, 17229776, 20061190, 20689757, 21177407, 22616552, 24025563, 29941343		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of larynx	Laryngeal carcinoma	BEFREE	19444904, 24563277, 24582975		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	15734977, 16054657, 16341770, 16364765, 16690207, 17299578, 17314339, 17502833, 17534174, 18289367, 18395930, 18451256, 18494946, 20009541, 20354815 View all (23 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	CGI_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Ovarian Epithelial	Epithelial ovarian carcinoma	Pubtator	18081788, 18640939, 19574766, 22261301, 27249597, 30640700, 32711417, 36799490	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	22436573	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Small Cell	Small cell carcinoma	Pubtator	18520795	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	19253035, 20975603, 22269178, 22317771, 23259415, 23335232, 23470290, 26165688, 27893326, 28878296	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	24135250	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma, Basal Cell	Carcinoma	BEFREE	15936590, 16341770		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	12867068, 12915808, 14614013, 14668933, 16819291, 17483363, 17961161, 18024864, 18640939, 19035454, 19203783, 21713364, 22261301, 22329723, 22609620 View all (15 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Central Nervous System Neoplasms	Central Nervous System Neoplasms	BEFREE	28976792		★★★★★ ★☆☆☆☆ Found in Text Mining only
Central Nervous System Neoplasms	Central nervous system neoplasm	Pubtator	28976792	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebellar Hypoplasia	Cerebellar Hypoplasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral cortical atrophy	Cerebral cortical atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebrooculofacioskeletal Syndrome 1	Cerebrooculofacioskeletal Syndrome	BEFREE	17273966, 26085086		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebrooculofacioskeletal Syndrome 1	Cerebrooculofacioskeletal Syndrome	ORPHANET_DG	17273966		★★★★★ ★☆☆☆☆ Found in Text Mining only
CEREBROOCULOFACIOSKELETAL SYNDROME 4	Cerebrooculofacioskeletal Syndrome	UNIPROT_DG	17273966, 23623389		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
CEREBROOCULOFACIOSKELETAL SYNDROME 4	Cerebrooculofacioskeletal Syndrome	GENOMICS_ENGLAND_DG	17273966, 23623389		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
CEREBROOCULOFACIOSKELETAL SYNDROME 4	Cerebrooculofacioskeletal Syndrome	CLINVAR_DG	23623389		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
CEREBROOCULOFACIOSKELETAL SYNDROME 4	Cerebrooculofacioskeletal Syndrome	CTD_human_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
cervical cancer	Cervical Cancer	CTD_human_DG	20934765		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
cervical cancer	Cervical Cancer	BEFREE	21093896, 22897321, 23435956, 29160417		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervix carcinoma	Cervix carcinoma	BEFREE	11008208, 21093896, 22897321, 23435956, 29160417		★★★★★ ★☆☆☆☆ Found in Text Mining only
Childhood Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	BEFREE	16723154		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	BEFREE	23632208		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	Pubtator	26374242, 31504065	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	12867068, 14668933, 2005641, 7736449		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	BEFREE	22044695		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cockayne Syndrome	Cockayne Syndrome	BEFREE	10214917, 23623389, 28229533, 7539208		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cockayne Syndrome	Cockayne Syndrome	CLINVAR_DG	23623389		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cockayne Syndrome	Cockayne syndrome	Pubtator	23623389, 33315086, 34096589	Associate	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cockayne syndrome type 2	Cockayne Syndrome	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cockayne Syndrome, Type II	Cockayne Syndrome	ORPHANET_DG	23623389		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COFS syndrome	COFS Syndrome	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon Carcinoma	Colon Carcinoma	BEFREE	18497992, 23314736, 23426174, 30048976		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	20689513	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic Neoplasms	BEFREE	24144331, 25532759		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	37510370	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	15213713, 16144923, 16817948, 16894565, 18289367, 19020759, 20682979, 21278243, 21855036, 22110208, 22994779, 23996617, 24144331, 24531312, 24833529 View all (20 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	15213713, 16817948, 18289367, 18797464, 19068092, 19672255, 19850635, 20078613, 22994779, 23169295, 23209813, 23481186, 23496813, 24144331, 24531312 View all (17 more)	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	LHGDN	19020759, 19194123		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	20689513	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	29568775	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Complex partial seizures	Seizure	BEFREE	23807173		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital chromosomal disease	Congenital Chromosomal Disease	BEFREE	17685459, 18541667, 23571153, 28747165, 31501277		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital dislocation of radial head	Dislocated radial head	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital kyphoscoliosis	Congenital kyphoscoliosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	28743890		★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	28743890		★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	Pubtator	28743890	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	26033827, 28743890		★★★★★ ★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	24964749		★★★★★ ★☆☆☆☆ Found in Text Mining only
Deglutition Disorders	Deglutition disorder	Pubtator	34284736	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	Pubtator	37751459	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Depressive Disorder	Major depressive disorder	Pubtator	34284736	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	27668351		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	27668351		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	22343279		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetic Retinopathy	Diabetic Retinopathy	BEFREE	22228707		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diarrhea	Diarrhea	Pubtator	19672255	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ductal Carcinoma	Ductal Carcinoma	BEFREE	28943968		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Early infantile epileptic encephalopathy with suppression bursts	Epileptic Encephalopathy	BEFREE	28388903		★★★★★ ★☆☆☆☆ Found in Text Mining only
Embryonal Neoplasm	Embryonal Neoplasm	CTD_human_DG	19956886		★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	16806437, 17314486		★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial Neoplasms	LHGDN	17314486		★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	BEFREE	31373346		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ependymoma	Ependymoma	BEFREE	29487694		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epithelial ovarian cancer	Ovarian cancer	BEFREE	14614013, 16819291, 17483363, 17961161, 18024864, 18640939, 19203783, 22261301, 22329723, 22609620, 23233066, 23632208, 24499239, 25941922		★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal carcinoma	Esophageal Carcinoma	BEFREE	15173087, 15788669, 18769985, 19421825, 21286668, 21956434, 23962907, 26426637, 27420968, 27741011, 27838937, 29113666, 30013648		★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophagus Neoplasm	BEFREE	15173087, 15788669, 18769985, 19421825, 21956434, 23962907, 26426637, 27420968, 27741011, 27838937, 29113666, 30013648		★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophagus Neoplasm	LHGDN	15788669		★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophageal neoplasm	Pubtator	19270000, 19620936, 23166636, 27420968	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	20700125, 25191856, 30075571, 32611208	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Familial multiple trichoepitheliomata	Multiple Trichoepithelioma	BEFREE	18386788		★★★★★ ★☆☆☆☆ Found in Text Mining only
Fanconi Anemia	Fanconi Anemia	GENOMICS_ENGLAND_DG	17273966		★★★★★ ★☆☆☆☆ Found in Text Mining only
Fanconi Anemia	Fanconi Anemia	BEFREE	18672388, 19805513		★★★★★ ★☆☆☆☆ Found in Text Mining only
Fanconi Anemia	Fanconi anemia	Pubtator	18672388, 23623389	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)	Anemia	BEFREE	18672388, 19805513		★★★★★ ★☆☆☆☆ Found in Text Mining only
Follicular thyroid carcinoma	Follicular Thyroid Carcinoma	BEFREE	21496891		★★★★★ ★☆☆☆☆ Found in Text Mining only
Gastric Adenocarcinoma	Gastric Cancer	BEFREE	23719746, 9440758		★★★★★ ★☆☆☆☆ Found in Text Mining only
Gastritis	Gastritis	Pubtator	32143126	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Gastrointestinal Diseases	Gastrointestinal disease	Pubtator	28708208	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Gemistocytic astrocytoma	Gemistocytic Astrocytoma	BEFREE	25192052		★★★★★ ★☆☆☆☆ Found in Text Mining only
Germ cell tumor	Tumor	CTD_human_DG	19956886		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	16212814, 16618782, 24325908, 24532427, 25192052		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	16212814, 19318434, 24532427	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	19318434	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	16212814, 16618782, 24325908, 24532427		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	10952103, 16212814, 16618782, 17151930, 19124499, 19626585, 19664717, 22201261, 22938460, 24254311, 24453030, 24500421, 24763305, 24782032, 25867436 View all (5 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	16212814, 19124499, 22938460, 23736022, 24782032, 8583241	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	LHGDN	19124499		★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Glycogen Storage Disease Type IIb	Glycogen storage disease	Pubtator	18520795	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Graft vs Host Disease	Graft-versus-host disease	Pubtator	30640700	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Growth Disorders	Growth disorder	Pubtator	33315086	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Head and Neck Carcinoma	Head And Neck Carcinoma	BEFREE	16054657, 16679872, 20823140, 20863778, 23011763, 24817012, 27165214, 31612639		★★★★★ ★☆☆☆☆ Found in Text Mining only
Head and Neck Neoplasms	Head and neck neoplasm	Pubtator	20863778	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Head and Neck Neoplasms	Head and neck neoplasm	Pubtator	24817012, 27165214	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart Defects Congenital	Congenital heart defect	Pubtator	26033827	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hepatic Veno-Occlusive Disease	Hepatic veno-occlusive disease-immunodeficiency syndrome	BEFREE	21999595		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hepatitis B	Hepatitis b	Pubtator	21394302	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hepatoblastoma	Hepatoblastoma	Pubtator	32146800	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary Diffuse Gastric Cancer	Gastric Cancer	CTD_human_DG	21133646		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary pancreatitis	Hereditary Pancreatitis	BEFREE	23773262		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hirschsprung Disease	Hirschsprung Disease	BEFREE	20362516		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hirschsprung Disease	Hirschsprung disease	Pubtator	26314858	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperlipidemias	Hyperlipidemia	Pubtator	28743890	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypogonadism	Hypogonadism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	24817012	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ichthyosis, X-Linked	Ichthyosis	BEFREE	21287534		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intervertebral disc disorder	Intervertebral Disc Disorder	BEFREE	22343279		★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	BEFREE	22228707		★★★★★ ★☆☆☆☆ Found in Text Mining only
Large cell carcinoma of lung	Lung Carcinoma	BEFREE	21718596		★★★★★ ★☆☆☆☆ Found in Text Mining only
Laryngeal Neoplasms	Laryngeal neoplasm	Pubtator	22740347, 24563277, 26617899	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Laryngeal Squamous Cell Carcinoma	Laryngeal Carcinoma	BEFREE	31749055		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leiomyosarcoma	Leiomyosarcoma	Pubtator	26612755	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	9827920		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia Myelomonocytic Chronic	Myelomonocytic leukemia	Pubtator	29797327	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	21942242		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, Myelomonocytic, Chronic	Myelomonocytic Leukemia	BEFREE	29797327		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukopenia	Leukopenia	BEFREE	23314736, 23543295, 27858847, 30914949, 31797573		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	15922480, 21076943, 26918371, 26967386, 27858866, 30946366		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Diseases	Lung disease	Pubtator	17197435	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	LHGDN	12800797, 15297394, 17502833, 18036700, 18347182, 18395930, 18451256, 18623378		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung Neoplasms	Lung neoplasms	Pubtator	17314339, 18289367, 18623378, 19253035, 20003391, 20009541, 20863778, 22436573, 23171216, 23275151, 26056042, 26612755, 27183913, 27289442, 28130961 View all (7 more)	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung Neoplasms	Lung Neoplasms	CTD_human_DG	30453383		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung Neoplasms	Lung Neoplasms	CGI_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	23496813	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	30075571	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	33832110	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoma, Follicular	Lymphoma	BEFREE	25178586		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Childhood Neoplasm	Malignant Neoplasm	BEFREE	28976792		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Glioma	Glioma	BEFREE	24782032		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Head and Neck Neoplasm	Head and neck cancer	BEFREE	16054657, 16679872, 20823140, 20863778, 24817012, 27165214, 31612639		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant mesothelioma	Malignant Mesothelioma	BEFREE	21277872, 21765044, 30893058		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	12938148, 15958648, 17229776, 18289367, 18402708, 19035454, 19289372, 20331623, 20467918, 21287534, 21376569, 21394302, 21996087, 22274803, 22569898 View all (16 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of endometrium	Endometrial Cancer	BEFREE	16806437, 17314486		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of esophagus	Esophagus Neoplasm	BEFREE	15173087, 15788669, 18769985, 19421825, 21956434, 23962907, 26426637, 27100737, 27420968, 27741011, 27838937, 29113666, 30013648		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of gastrointestinal tract	Malignant gastrointestinal tract tumors	BEFREE	21142660		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of larynx	Larynx cancer	BEFREE	19444904, 24563277, 24582975, 26617899		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	15734977, 16054657, 16341770, 16364765, 16690207, 17299578, 17314339, 17502833, 17534174, 18289367, 18395930, 18451256, 18494946, 20009541, 20354815 View all (23 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	CTD_human_DG	30453383		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	CGI_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of mouth	Malignant neoplasm of mouth	BEFREE	28645807		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of nasopharynx	Nasopharyngeal carcinoma	BEFREE	20153243, 26125779		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of oropharynx	Malignant Neoplasm Of Oropharynx	BEFREE	25380690		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	12867068, 12915808, 14668933, 19035454, 21713364, 22901125, 25015375, 25941922, 26125934, 28388557, 28623887, 29156754, 29669843, 30570863, 30797591, 9360634 View all (1 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	18425336, 26617894, 27050953, 27051038, 31393355		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	16315315, 18332046, 22102698, 28747165		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of skin	Skin cancer	BEFREE	22002622		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	17549342, 18231104, 23166636, 23355039, 23604281, 23719746, 23884439, 24023723, 24125975, 24318989, 24870596, 24994039, 25222248, 25366763, 25542228 View all (16 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	CTD_human_DG	21133646		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of testis	Malignant Neoplasm Of Testis	BEFREE	15885892		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of testis	Malignant Neoplasm Of Testis	CTD_human_DG	19956886		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	16284380, 16537713, 17229776, 20061190, 20689757, 21177407, 22616552, 24025563, 29941343		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	10214917, 15688021, 15922480, 16054657, 16341770, 16364765, 17502833, 17522621, 17606717, 18451256, 18616887, 19235214, 19549713, 19832035, 20823140 View all (36 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	CTD_human_DG	23203453		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Testicular Germ Cell Tumor	Malignant testicular germ cell tumor	BEFREE	15885892		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	22897321, 23435956, 29160417		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	18497992, 23314736, 23426174, 25532759, 30048976		★★★★★ ★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	17210993, 21722328, 21996734, 28903417, 29923182		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
melanoma	Melanoma	CTD_human_DG	21722328		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Melanoma	Pubtator	23982883	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mesothelioma	Mesothelioma	BEFREE	25246386		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mesothelioma Malignant	Mesothelioma	Pubtator	21277872, 21765044, 22031231, 24935356, 25840756, 28422153, 30893058, 34353292, 36708568	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic syndrome	Pubtator	17197435	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Metastatic Prostate Carcinoma	Metastatic Prostate Carcinoma	BEFREE	23433892		★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Microphthalmos	Microphthalmos	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Mixed phenotype acute leukemia	Mixed Phenotype Leukemia	BEFREE	9827920		★★★★★ ★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	BEFREE	18604718		★★★★★ ★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	LHGDN	18604718		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myotonic Dystrophy	Myotonic dystrophy	BEFREE	1346924, 1612584, 1639379, 1639380, 1639381, 1674498, 1840564, 1928101, 2063878		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myotonic Dystrophy	Myotonic dystrophy	Pubtator	1928101	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	BEFREE	18615480, 19549713, 20153243, 23712330, 25025378, 25946469, 26125779, 27721259, 28404895, 29179456, 29439312, 29578165, 31124943, 31169219		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nasopharyngeal Carcinoma	Nasopharyngeal carcinoma	Pubtator	19549713, 24340057, 25025378, 25946469, 26125779, 27721259, 28404895, 29439312, 36708557	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	CTD_human_DG	20605357		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nasopharyngeal Neoplasms	Nasopharyngeal carcinoma	Pubtator	26125779, 31169219	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Neoplasms	Nasopharyngeal Neoplasms	BEFREE	29578165		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nausea	Nausea	Pubtator	25227833, 32397974	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	11077043, 12114432, 1433335, 14614013, 15173087, 15764785, 16144923, 16957145, 16966686, 17229776, 17314339, 17534174, 17549342, 17602079, 17602080 View all (91 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	CTD_human_DG	23203453		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms, Embryonal and Mixed	Neoplasm	CTD_human_DG	19956886		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms, Germ Cell and Embryonal	Neoplasm	CTD_human_DG	19956886		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nervous System Diseases	Nervous system disease	Pubtator	29145602	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	22182450, 29544698	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	29544698		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuropathy	Neuropathy	BEFREE	25495407		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neutropenia	Neutropenia	BEFREE	23314736, 23543295, 27858847, 31797573		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neutropenia	Neutropenia	Pubtator	27858847, 31797573, 33955129	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Niemann-Pick Disease, Type C	Niemann-Pick Disease	BEFREE	23712330, 25025378		★★★★★ ★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	12114432, 12867068, 12915808, 12917817, 14668933, 15746057, 15764785, 16195237, 16557672, 16807441, 16957145, 16966686, 16980606, 17222938, 17303907 View all (148 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	CTD_human_DG	21553054, 23912706		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Oculocerebrorenal Syndrome	Oculocerebrorenal syndrome	Pubtator	26085086	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Opitz GBBB Syndrome, X-Linked	Opitz GBBB Syndrome, X-Linked	BEFREE	28388903		★★★★★ ★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Oropharyngeal Carcinoma	Oropharyngeal Carcinoma	BEFREE	25380690		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	23098477, 25755792, 26339355, 26345951, 26400354, 26436406, 28388903, 28977987, 29950854, 29980176, 30402838, 30544402		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	23098477, 25755792, 26339355, 26400354, 26436406, 29980176	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Carcinoma	Ovarian Carcinoma	BEFREE	21713364		★★★★★ ★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	LHGDN	11936875, 18081788, 18640939, 19035454		★★★★★ ★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	12867068, 12915808, 14668933, 15688021, 19035454, 22901125, 25015375, 25941922, 26125934, 28388557, 28623887, 29156754, 29669843, 30570863, 9360634		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	10228559, 12785726, 18081788, 19574766, 22901125, 27249597, 28122348, 29669843, 30570863, 30610804, 32951896, 33126828, 33148925, 33273524, 38300970, 8040325, 9722577 View all (2 more)	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	29669843	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	18425336, 26617894, 27050953, 27051038, 31393355		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasm	Pancreatic Neoplasm	LHGDN	18425336		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	19543324, 22760605, 26617894, 27051038, 27147577	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Paresthesia	Paresthesia	Pubtator	29145602	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pena Shokeir syndrome Type 2	Pena Shokeir syndrome	ORPHANET_DG	17273966		★★★★★ ★☆☆☆☆ Found in Text Mining only
Penile Neoplasms	Penile neoplasm	Pubtator	26935231	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Nervous System Diseases	CTD_human_DG	20979931		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Peripheral Nervous System Diseases	Nervous System Diseases	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Polymicrogyria	Polymicrogyria	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Precursor Cell Lymphoblastic Leukemia Lymphoma	Lymphoblastic Leukemia	LHGDN	16723154		★★★★★ ★☆☆☆☆ Found in Text Mining only
Primary peritoneal carcinoma	Peritoneal Carcinoma	BEFREE	26031756		★★★★★ ★☆☆☆☆ Found in Text Mining only
Progeria	Progeria	BEFREE	22127259		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	12643788, 16315315, 18332046, 22102698, 28747165		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	LHGDN	16315315, 18332046		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	18332046, 22102698, 23433892, 23936089, 25540025, 28747165	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	22044695	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Rectal Carcinoma	Rectal Carcinoma	BEFREE	25026457, 25684513, 28608017, 29080834		★★★★★ ★☆☆☆☆ Found in Text Mining only
Rectal Neoplasms	Rectal Neoplasms	BEFREE	24144331, 29080834		★★★★★ ★☆☆☆☆ Found in Text Mining only
Rhabdoid Tumor Predisposition Syndrome 1	Rhabdoid tumor predisposition syndrome	Pubtator	24088734	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Rhinitis Allergic	Rhinitis	Pubtator	35693108	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Rhinitis Allergic	Rhinitis	Pubtator	35693108	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	Pubtator	21287534	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	BEFREE	21376569, 22197612		★★★★★ ★☆☆☆☆ Found in Text Mining only
Secondary malignant neoplasm of colon and/or rectum	Colorectal Neoplasms	BEFREE	16144923, 19672255, 19850635, 19960344, 21788964, 23169295, 23175150, 26083491, 30224341		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Sick Sinus Syndrome	Sick sinus syndrome	Pubtator	19745766	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Skin carcinoma	Skin Carcinoma	BEFREE	20362516		★★★★★ ★☆☆☆☆ Found in Text Mining only
Skin lesion	Skin Lesion	BEFREE	27685703		★★★★★ ★☆☆☆☆ Found in Text Mining only
Small cell carcinoma of lung	Lung carcinoma	BEFREE	18451256, 18520795, 22344449, 22795264, 24058603, 25375151		★★★★★ ★☆☆☆☆ Found in Text Mining only
Small Cell Lung Carcinoma	Small cell lung carcinoma	Pubtator	20104194, 20107425, 20421821, 22258474, 22344449, 24058603, 39735668	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Sporadic Breast Carcinoma	Breast Carcinoma	BEFREE	25961110		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	18036700, 21676483, 22127805, 23470290, 24762590, 25812040, 28476819, 28927101, 9268987		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	22374244, 23605218, 25191856, 27130464, 28356949, 29188501, 30075571, 31713119		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	11900225	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	18594541, 21426588, 24088734, 24817012, 25019640, 26505394, 26918827, 28535002, 33029487, 33714009	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of lung	Lung carcinoma	BEFREE	24135250		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of mouth	Oral cavity carcinoma	BEFREE	30498981		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of skin	Skin carcinoma	BEFREE	23648546		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	11900225, 16679872, 16979838, 20823140, 21206986, 22127805, 22176134, 22284908, 24817012, 25019640, 26066774, 26918827, 28351583, 28645807, 30973677, 31749055 View all (1 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	BEFREE	21999595		★★★★★ ★☆☆☆☆ Found in Text Mining only
Steroid Sulfatase Deficiency Disease	Steroid Sulfatase Deficiency Disease	BEFREE	21287534		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	17549342, 18231104, 23166636, 23355039, 23604281, 23719746, 23884439, 24023723, 24125975, 24318989, 24870596, 24994039, 25222248, 25366763, 25542228 View all (16 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	17322540, 18231104, 18362936, 19009659, 20593954, 21364592, 23166636, 23317227, 23719746, 23884439, 24023723, 24053422, 24175850, 24318989, 24793015 View all (15 more)	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Stomach Neoplasms	Stomach Neoplasms	CTD_human_DG	21133646		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Stomatitis	Stomatitis	Pubtator	32397974	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Talipes	Talipes	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Teratoma	Teratoma	BEFREE	7923602		★★★★★ ★☆☆☆☆ Found in Text Mining only
Testicular Diseases	Testicular Diseases	BEFREE	20846399		★★★★★ ★☆☆☆☆ Found in Text Mining only
Testicular Germ Cell Tumor	Testicular germ cell tumor	Pubtator	32167697	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Testicular Neoplasms	Testicular neoplasm	Pubtator	10074455, 32167697	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Testicular Neoplasms	Testicular Neoplasms	LHGDN	15095299		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Testicular Neoplasms	Testicular Neoplasms	BEFREE	16315315		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Testicular Neoplasms	Testicular Neoplasms	CTD_human_DG	19956886		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thrombocytopenia	Thrombocytopenia	Pubtator	29145602	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Thymic Carcinoma	Thymic Carcinoma	BEFREE	28521419		★★★★★ ★☆☆☆☆ Found in Text Mining only
Thymus Neoplasms	Thymus Neoplasms	BEFREE	26254278		★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid Hormone Metabolism, Abnormal	Thyroid Hormone Metabolism	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Toxic Epidermal Necrolysis	Stevens-Johnson Syndrome	BEFREE	24763983		★★★★★ ★☆☆☆☆ Found in Text Mining only
Transitional cell carcinoma of bladder	Bladder carcinoma	BEFREE	26162296		★★★★★ ★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	21394302, 28345838, 30096175, 30589644		★★★★★ ★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	21394302	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	24662920, 30096175, 32558176	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Tumor of Rete Testis	Tumor of Rete Testis	CTD_human_DG	19956886		★★★★★ ★☆☆☆☆ Found in Text Mining only
Turcot syndrome (disorder)	Turcot syndrome	BEFREE	18316546		★★★★★ ★☆☆☆☆ Found in Text Mining only
Tyrosinemia, Type I	Tyrosinemia	BEFREE	22209984		★★★★★ ★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	17229776, 20689757, 22616552, 29941343	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Urothelial Carcinoma	Urothelial Carcinoma	BEFREE	26162296		★★★★★ ★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasm	Uterine cervix neoplasm	CTD_human_DG	20934765		★★★★★ ★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	28659181, 28708208, 29160417, 29390553, 32107047	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Vertical Talus	Vertical Talus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Vitiligo	Vitiligo	BEFREE	25965418		★★★★★ ★☆☆☆☆ Found in Text Mining only
VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding)	Vitiligo-associated SYSTEMIC LUPUS ERYTHEMATOSUS	BEFREE	25965418		★★★★★ ★☆☆☆☆ Found in Text Mining only
Werner Syndrome	Werner Syndrome	BEFREE	22127259		★★★★★ ★☆☆☆☆ Found in Text Mining only
Xeroderma Pigmentosum	Xeroderma Pigmentosum	BEFREE	16284380, 24370899, 25222248, 2918869, 30808711, 4000167, 7539208		★★★★★ ★☆☆☆☆ Found in Text Mining only
Xeroderma Pigmentosum	Xeroderma Pigmentosum	GENOMICS_ENGLAND_DG	17273966, 23623389		★★★★★ ★☆☆☆☆ Found in Text Mining only
Xeroderma Pigmentosum	Xeroderma pigmentosum	Pubtator	23623389, 28130555, 32111838	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Xeroderma Pigmentosum Complementation Group F	Xeroderma pigmentosum	Pubtator	26085086	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Xeroderma Pigmentosum, Complementation Group D	Xeroderma Pigmentosum	BEFREE	15277258, 17401013, 17549067, 18347182, 18797464, 19443413, 24833529, 24933103, 26426637, 26918371		★★★★★ ★☆☆☆☆ Found in Text Mining only
Xeroderma pigmentosum, group A	Xeroderma Pigmentosum	BEFREE	14706347, 17299578, 20811663, 20947490, 25115435, 9753735		★★★★★ ★☆☆☆☆ Found in Text Mining only
Xeroderma pigmentosum, group F	Xeroderma Pigmentosum	BEFREE	18541667, 20221251, 23909490, 24412486, 24662920, 24793015, 24861646, 25115435, 26085086, 28486142, 8253090, 8253091, 8811092, 9862190		★★★★★ ★☆☆☆☆ Found in Text Mining only
Xeroderma pigmentosum, group G	Xeroderma Pigmentosum	BEFREE	19289372, 24443257		★★★★★ ★☆☆☆☆ Found in Text Mining only
XFE Progeroid Syndrome	Xfe progeroid syndrome	Pubtator	33315086	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
XFE Progeroid Syndrome	Xfe progeroid syndrome	Pubtator	33315086	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only

ERCC1 (ERCC excision repair 1, endonuclease non-catalytic subunit)