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

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	64858
Gene name	DNA cross-link repair 1B
Gene symbol	DCLRE1B
Synonyms (NCBI Gene)	APOLLODKCB8SNM1BSNMIB
Chromosome	1
Chromosome location	1p13.2
Summary	DNA interstrand cross-links prevent strand separation, thereby physically blocking transcription, replication, and segregation of DNA. DCLRE1B is one of several evolutionarily conserved genes involved in repair of interstrand cross-links (Dronkert et al.,

277

Show/Hide all (277)

miRTarBase ID	miRNA	Experiments	Reference
MIRT019240	hsa-miR-331-3p	Sequencing	20371350
MIRT019658	hsa-miR-378a-3p	Sequencing	20371350
MIRT044451	hsa-miR-320a	CLASH	23622248
MIRT041758	hsa-miR-484	CLASH	23622248
MIRT036181	hsa-miR-320b	CLASH	23622248
MIRT926214	hsa-let-7a	CLIP-seq
MIRT926215	hsa-let-7b	CLIP-seq
MIRT926216	hsa-let-7c	CLIP-seq
MIRT926217	hsa-let-7d	CLIP-seq
MIRT926218	hsa-let-7e	CLIP-seq
MIRT926219	hsa-let-7f	CLIP-seq
MIRT926220	hsa-let-7g	CLIP-seq
MIRT926221	hsa-let-7i	CLIP-seq
MIRT926222	hsa-miR-101	CLIP-seq
MIRT926223	hsa-miR-105	CLIP-seq
MIRT926224	hsa-miR-1178	CLIP-seq
MIRT926225	hsa-miR-1193	CLIP-seq
MIRT926226	hsa-miR-1207-3p	CLIP-seq
MIRT926227	hsa-miR-1245b-3p	CLIP-seq
MIRT926228	hsa-miR-1252	CLIP-seq
MIRT926229	hsa-miR-1256	CLIP-seq
MIRT926230	hsa-miR-1266	CLIP-seq
MIRT926231	hsa-miR-1271	CLIP-seq
MIRT926232	hsa-miR-127-5p	CLIP-seq
MIRT926233	hsa-miR-1323	CLIP-seq
MIRT926234	hsa-miR-135a	CLIP-seq
MIRT926235	hsa-miR-135b	CLIP-seq
MIRT926236	hsa-miR-136	CLIP-seq
MIRT926237	hsa-miR-149	CLIP-seq
MIRT926238	hsa-miR-154	CLIP-seq
MIRT926239	hsa-miR-182	CLIP-seq
MIRT926240	hsa-miR-203	CLIP-seq
MIRT926241	hsa-miR-2052	CLIP-seq
MIRT926242	hsa-miR-216a	CLIP-seq
MIRT926243	hsa-miR-217	CLIP-seq
MIRT926244	hsa-miR-298	CLIP-seq
MIRT926245	hsa-miR-300	CLIP-seq
MIRT926246	hsa-miR-302f	CLIP-seq
MIRT926247	hsa-miR-3074-5p	CLIP-seq
MIRT926248	hsa-miR-3120-3p	CLIP-seq
MIRT926249	hsa-miR-3122	CLIP-seq
MIRT926250	hsa-miR-3127-3p	CLIP-seq
MIRT926251	hsa-miR-3130-3p	CLIP-seq
MIRT926252	hsa-miR-3131	CLIP-seq
MIRT926253	hsa-miR-3163	CLIP-seq
MIRT926254	hsa-miR-330-3p	CLIP-seq
MIRT926255	hsa-miR-338-5p	CLIP-seq
MIRT926256	hsa-miR-340	CLIP-seq
MIRT926257	hsa-miR-3622a-5p	CLIP-seq
MIRT926258	hsa-miR-3647-3p	CLIP-seq
MIRT926259	hsa-miR-3680	CLIP-seq
MIRT926260	hsa-miR-3686	CLIP-seq
MIRT926261	hsa-miR-3689a-3p	CLIP-seq
MIRT926262	hsa-miR-3689c	CLIP-seq
MIRT926263	hsa-miR-3692	CLIP-seq
MIRT926264	hsa-miR-370	CLIP-seq
MIRT926265	hsa-miR-376c	CLIP-seq
MIRT926266	hsa-miR-381	CLIP-seq
MIRT926267	hsa-miR-3913-5p	CLIP-seq
MIRT926268	hsa-miR-3915	CLIP-seq
MIRT926269	hsa-miR-3927	CLIP-seq
MIRT926270	hsa-miR-3928	CLIP-seq
MIRT926271	hsa-miR-409-3p	CLIP-seq
MIRT926272	hsa-miR-4258	CLIP-seq
MIRT926273	hsa-miR-4265	CLIP-seq
MIRT926274	hsa-miR-4272	CLIP-seq
MIRT926275	hsa-miR-4276	CLIP-seq
MIRT926276	hsa-miR-4296	CLIP-seq
MIRT926277	hsa-miR-4302	CLIP-seq
MIRT926278	hsa-miR-4322	CLIP-seq
MIRT926279	hsa-miR-4328	CLIP-seq
MIRT926280	hsa-miR-4417	CLIP-seq
MIRT926281	hsa-miR-4418	CLIP-seq
MIRT926282	hsa-miR-4423-3p	CLIP-seq
MIRT926283	hsa-miR-4425	CLIP-seq
MIRT926284	hsa-miR-4436b-3p	CLIP-seq
MIRT926285	hsa-miR-4437	CLIP-seq
MIRT926286	hsa-miR-4458	CLIP-seq
MIRT926287	hsa-miR-4468	CLIP-seq
MIRT926288	hsa-miR-4494	CLIP-seq
MIRT926289	hsa-miR-4500	CLIP-seq
MIRT926290	hsa-miR-4518	CLIP-seq
MIRT926291	hsa-miR-4642	CLIP-seq
MIRT926292	hsa-miR-4650-3p	CLIP-seq
MIRT926293	hsa-miR-4662a-3p	CLIP-seq
MIRT926294	hsa-miR-4666-3p	CLIP-seq
MIRT926295	hsa-miR-4674	CLIP-seq
MIRT926296	hsa-miR-4697-3p	CLIP-seq
MIRT926297	hsa-miR-4698	CLIP-seq
MIRT926298	hsa-miR-4712-3p	CLIP-seq
MIRT926299	hsa-miR-4716-5p	CLIP-seq
MIRT926300	hsa-miR-4717-3p	CLIP-seq
MIRT926301	hsa-miR-4720-3p	CLIP-seq
MIRT926302	hsa-miR-4731-3p	CLIP-seq
MIRT926303	hsa-miR-4733-5p	CLIP-seq
MIRT926304	hsa-miR-4747-5p	CLIP-seq
MIRT926305	hsa-miR-4751	CLIP-seq
MIRT926306	hsa-miR-4771	CLIP-seq
MIRT926307	hsa-miR-4775	CLIP-seq
MIRT926308	hsa-miR-4778-5p	CLIP-seq
MIRT926309	hsa-miR-4789-5p	CLIP-seq
MIRT926310	hsa-miR-4798-3p	CLIP-seq
MIRT926311	hsa-miR-4801	CLIP-seq
MIRT926312	hsa-miR-4802-3p	CLIP-seq
MIRT926313	hsa-miR-4804-3p	CLIP-seq
MIRT926314	hsa-miR-490-5p	CLIP-seq
MIRT926315	hsa-miR-498	CLIP-seq
MIRT926316	hsa-miR-509-3-5p	CLIP-seq
MIRT926317	hsa-miR-509-5p	CLIP-seq
MIRT926318	hsa-miR-5096	CLIP-seq
MIRT926319	hsa-miR-513c	CLIP-seq
MIRT926320	hsa-miR-514b-5p	CLIP-seq
MIRT926321	hsa-miR-548a-3p	CLIP-seq
MIRT926322	hsa-miR-548ae	CLIP-seq
MIRT926323	hsa-miR-548ag	CLIP-seq
MIRT926324	hsa-miR-548ai	CLIP-seq
MIRT926325	hsa-miR-548aj	CLIP-seq
MIRT926326	hsa-miR-548am	CLIP-seq
MIRT926327	hsa-miR-548b-3p	CLIP-seq
MIRT926328	hsa-miR-548c-3p	CLIP-seq
MIRT926329	hsa-miR-548e	CLIP-seq
MIRT926330	hsa-miR-548f	CLIP-seq
MIRT926331	hsa-miR-548o	CLIP-seq
MIRT926332	hsa-miR-548p	CLIP-seq
MIRT926333	hsa-miR-548x	CLIP-seq
MIRT926334	hsa-miR-556-5p	CLIP-seq
MIRT926335	hsa-miR-587	CLIP-seq
MIRT926336	hsa-miR-590-3p	CLIP-seq
MIRT926337	hsa-miR-600	CLIP-seq
MIRT926338	hsa-miR-610	CLIP-seq
MIRT926339	hsa-miR-611	CLIP-seq
MIRT926340	hsa-miR-616	CLIP-seq
MIRT926341	hsa-miR-640	CLIP-seq
MIRT926342	hsa-miR-645	CLIP-seq
MIRT926343	hsa-miR-653	CLIP-seq
MIRT926344	hsa-miR-767-5p	CLIP-seq
MIRT926345	hsa-miR-944	CLIP-seq
MIRT926346	hsa-miR-96	CLIP-seq
MIRT926347	hsa-miR-98	CLIP-seq
MIRT926222	hsa-miR-101	CLIP-seq
MIRT926226	hsa-miR-1207-3p	CLIP-seq
MIRT1974423	hsa-miR-1228	CLIP-seq
MIRT1974424	hsa-miR-1236	CLIP-seq
MIRT926229	hsa-miR-1256	CLIP-seq
MIRT1974425	hsa-miR-1261	CLIP-seq
MIRT926231	hsa-miR-1271	CLIP-seq
MIRT926232	hsa-miR-127-5p	CLIP-seq
MIRT1974426	hsa-miR-1276	CLIP-seq
MIRT1974427	hsa-miR-1289	CLIP-seq
MIRT1974428	hsa-miR-1290	CLIP-seq
MIRT926233	hsa-miR-1323	CLIP-seq
MIRT926234	hsa-miR-135a	CLIP-seq
MIRT926235	hsa-miR-135b	CLIP-seq
MIRT1974429	hsa-miR-153	CLIP-seq
MIRT926238	hsa-miR-154	CLIP-seq
MIRT926239	hsa-miR-182	CLIP-seq
MIRT1974430	hsa-miR-1914	CLIP-seq
MIRT1974431	hsa-miR-2114	CLIP-seq
MIRT926244	hsa-miR-298	CLIP-seq
MIRT926248	hsa-miR-3120-3p	CLIP-seq
MIRT1974432	hsa-miR-3121-3p	CLIP-seq
MIRT1974433	hsa-miR-3150a-3p	CLIP-seq
MIRT1974434	hsa-miR-3175	CLIP-seq
MIRT1974435	hsa-miR-3189-3p	CLIP-seq
MIRT1974436	hsa-miR-34a	CLIP-seq
MIRT1974437	hsa-miR-34c-5p	CLIP-seq
MIRT1974438	hsa-miR-3622a-3p	CLIP-seq
MIRT1974439	hsa-miR-3622b-3p	CLIP-seq
MIRT926259	hsa-miR-3680	CLIP-seq
MIRT926260	hsa-miR-3686	CLIP-seq
MIRT1974440	hsa-miR-3688-5p	CLIP-seq
MIRT926264	hsa-miR-370	CLIP-seq
MIRT1974441	hsa-miR-374c	CLIP-seq
MIRT1974442	hsa-miR-377	CLIP-seq
MIRT1974443	hsa-miR-3923	CLIP-seq
MIRT1974444	hsa-miR-3925-3p	CLIP-seq
MIRT1974445	hsa-miR-3925-5p	CLIP-seq
MIRT1974446	hsa-miR-3942-5p	CLIP-seq
MIRT926271	hsa-miR-409-3p	CLIP-seq
MIRT926273	hsa-miR-4265	CLIP-seq
MIRT926275	hsa-miR-4276	CLIP-seq
MIRT926276	hsa-miR-4296	CLIP-seq
MIRT926277	hsa-miR-4302	CLIP-seq
MIRT1974447	hsa-miR-4311	CLIP-seq
MIRT926278	hsa-miR-4322	CLIP-seq
MIRT926280	hsa-miR-4417	CLIP-seq
MIRT926281	hsa-miR-4418	CLIP-seq
MIRT926284	hsa-miR-4436b-3p	CLIP-seq
MIRT926285	hsa-miR-4437	CLIP-seq
MIRT926287	hsa-miR-4468	CLIP-seq
MIRT1974448	hsa-miR-4474-3p	CLIP-seq
MIRT926288	hsa-miR-4494	CLIP-seq
MIRT1974449	hsa-miR-449a	CLIP-seq
MIRT1974450	hsa-miR-449b	CLIP-seq
MIRT1974451	hsa-miR-4505	CLIP-seq
MIRT1974452	hsa-miR-452	CLIP-seq
MIRT926291	hsa-miR-4642	CLIP-seq
MIRT1974453	hsa-miR-4645-5p	CLIP-seq
MIRT1974454	hsa-miR-4652-3p	CLIP-seq
MIRT1974455	hsa-miR-4667-5p	CLIP-seq
MIRT1974456	hsa-miR-4673	CLIP-seq
MIRT926295	hsa-miR-4674	CLIP-seq
MIRT1974457	hsa-miR-4676-3p	CLIP-seq
MIRT926296	hsa-miR-4697-3p	CLIP-seq
MIRT926297	hsa-miR-4698	CLIP-seq
MIRT1974458	hsa-miR-4700-5p	CLIP-seq
MIRT1974459	hsa-miR-4703-5p	CLIP-seq
MIRT1974460	hsa-miR-4704-3p	CLIP-seq
MIRT926300	hsa-miR-4717-3p	CLIP-seq
MIRT926302	hsa-miR-4731-3p	CLIP-seq
MIRT1974461	hsa-miR-4731-5p	CLIP-seq
MIRT1974462	hsa-miR-4744	CLIP-seq
MIRT926306	hsa-miR-4771	CLIP-seq
MIRT926307	hsa-miR-4775	CLIP-seq
MIRT1974463	hsa-miR-4777-3p	CLIP-seq
MIRT926308	hsa-miR-4778-5p	CLIP-seq
MIRT926310	hsa-miR-4798-3p	CLIP-seq
MIRT926311	hsa-miR-4801	CLIP-seq
MIRT1974464	hsa-miR-490-3p	CLIP-seq
MIRT926315	hsa-miR-498	CLIP-seq
MIRT1974465	hsa-miR-499a-5p	CLIP-seq
MIRT1974466	hsa-miR-502-5p	CLIP-seq
MIRT926316	hsa-miR-509-3-5p	CLIP-seq
MIRT926317	hsa-miR-509-5p	CLIP-seq
MIRT926321	hsa-miR-548a-3p	CLIP-seq
MIRT926323	hsa-miR-548ag	CLIP-seq
MIRT926324	hsa-miR-548ai	CLIP-seq
MIRT926327	hsa-miR-548b-3p	CLIP-seq
MIRT926328	hsa-miR-548c-3p	CLIP-seq
MIRT926329	hsa-miR-548e	CLIP-seq
MIRT926330	hsa-miR-548f	CLIP-seq
MIRT926331	hsa-miR-548o	CLIP-seq
MIRT926334	hsa-miR-556-5p	CLIP-seq
MIRT1974467	hsa-miR-583	CLIP-seq
MIRT1974468	hsa-miR-589	CLIP-seq
MIRT926336	hsa-miR-590-3p	CLIP-seq
MIRT926340	hsa-miR-616	CLIP-seq
MIRT1974469	hsa-miR-649	CLIP-seq
MIRT926343	hsa-miR-653	CLIP-seq
MIRT1974470	hsa-miR-655	CLIP-seq
MIRT1974471	hsa-miR-766	CLIP-seq
MIRT1974472	hsa-miR-939	CLIP-seq
MIRT926346	hsa-miR-96	CLIP-seq
MIRT926223	hsa-miR-105	CLIP-seq
MIRT1974429	hsa-miR-153	CLIP-seq
MIRT926241	hsa-miR-2052	CLIP-seq
MIRT926247	hsa-miR-3074-5p	CLIP-seq
MIRT926248	hsa-miR-3120-3p	CLIP-seq
MIRT926251	hsa-miR-3130-3p	CLIP-seq
MIRT926253	hsa-miR-3163	CLIP-seq
MIRT926254	hsa-miR-330-3p	CLIP-seq
MIRT926264	hsa-miR-370	CLIP-seq
MIRT1974441	hsa-miR-374c	CLIP-seq
MIRT1974446	hsa-miR-3942-5p	CLIP-seq
MIRT926279	hsa-miR-4328	CLIP-seq
MIRT926281	hsa-miR-4418	CLIP-seq
MIRT1974459	hsa-miR-4703-5p	CLIP-seq
MIRT926299	hsa-miR-4716-5p	CLIP-seq
MIRT926303	hsa-miR-4733-5p	CLIP-seq
MIRT1974463	hsa-miR-4777-3p	CLIP-seq
MIRT1974464	hsa-miR-490-3p	CLIP-seq
MIRT926316	hsa-miR-509-3-5p	CLIP-seq
MIRT926317	hsa-miR-509-5p	CLIP-seq
MIRT1974469	hsa-miR-649	CLIP-seq
MIRT1974470	hsa-miR-655	CLIP-seq
MIRT926344	hsa-miR-767-5p	CLIP-seq
MIRT2386785	hsa-miR-1284	CLIP-seq
MIRT1974429	hsa-miR-153	CLIP-seq
MIRT926245	hsa-miR-300	CLIP-seq
MIRT926255	hsa-miR-338-5p	CLIP-seq
MIRT1974441	hsa-miR-374c	CLIP-seq
MIRT926266	hsa-miR-381	CLIP-seq
MIRT926271	hsa-miR-409-3p	CLIP-seq
MIRT926294	hsa-miR-4666-3p	CLIP-seq
MIRT1974463	hsa-miR-4777-3p	CLIP-seq
MIRT2386786	hsa-miR-556-3p	CLIP-seq
MIRT1974470	hsa-miR-655	CLIP-seq

Show/Hide all (41)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000723	Process	Telomere maintenance	IBA
GO:0000723	Process	Telomere maintenance	IMP	20655466
GO:0000781	Component	Chromosome, telomeric region	HDA	19135898
GO:0000781	Component	Chromosome, telomeric region	IBA
GO:0000781	Component	Chromosome, telomeric region	IDA	24270157
GO:0000781	Component	Chromosome, telomeric region	IDA	16730175, 20479256, 20655466
GO:0000781	Component	Chromosome, telomeric region	IEA
GO:0003684	Function	Damaged DNA binding	IBA
GO:0004518	Function	Nuclease activity	IEA
GO:0004527	Function	Exonuclease activity	IEA
GO:0005515	Function	Protein binding	IPI	16730175, 18202258, 19197158, 20479256, 20655466, 21217703, 24981860, 26496610, 32296183, 32814053, 33961781
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005694	Component	Chromosome	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005813	Component	Centrosome	IDA	19197158
GO:0005813	Component	Centrosome	IEA
GO:0005856	Component	Cytoskeleton	IEA
GO:0006281	Process	DNA repair	IEA
GO:0006303	Process	Double-strand break repair via nonhomologous end joining	IBA
GO:0006974	Process	DNA damage response	IEA
GO:0008409	Function	5'-3' exonuclease activity	IDA	16730175, 20655466, 22692201
GO:0008409	Function	5'-3' exonuclease activity	IEA
GO:0008800	Function	Beta-lactamase activity	IDA	31434986
GO:0008800	Function	Beta-lactamase activity	IEA
GO:0010833	Process	Telomere maintenance via telomere lengthening	IMP	20479256
GO:0016233	Process	Telomere capping	IMP	20479256
GO:0016604	Component	Nuclear body	IDA
GO:0016787	Function	Hydrolase activity	IEA
GO:0031627	Process	Telomeric loop formation	IEA
GO:0031627	Process	Telomeric loop formation	ISS
GO:0031848	Process	Protection from non-homologous end joining at telomere	IEA
GO:0031848	Process	Protection from non-homologous end joining at telomere	IMP	16730175, 20479256
GO:0031860	Process	Telomeric 3' overhang formation	IEA
GO:0031860	Process	Telomeric 3' overhang formation	ISS
GO:0035312	Function	5'-3' DNA exonuclease activity	IBA
GO:0036297	Process	Interstrand cross-link repair	IBA
GO:0036297	Process	Interstrand cross-link repair	IMP	20479256
GO:0042803	Function	Protein homodimerization activity	IDA	20479256
GO:0044877	Function	Protein-containing complex binding	IPI	18202258

MIM	HGNC	e!Ensembl
609683	17641	ENSG00000118655

Q9H816

Protein name

5' exonuclease Apollo (EC 3.1.-.-) (Beta-lactamase DCLRE1B) (EC 3.5.2.6) (DNA cross-link repair 1B protein) (SNM1 homolog B) (SNMIB) (hSNM1B)

Protein function

5'-3' exonuclease that plays a central role in telomere maintenance and protection during S-phase. Participates in the protection of telomeres against non-homologous end-joining (NHEJ)-mediated repair, thereby ensuring that telomeres do not fuse

PDB

3BUA , 5AHO , 7A1F , 7B2X , 7B9B

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF07522	DRMBL	245 → 301	DNA repair metallo-beta-lactamase	Domain

Sequence

MNGVLIPHTPIAVDFWSLRRAGTARLFFLSHMHSDHTVGLSSTWARPLYCSPITAHLLHR
HLQVSKQWIQALEVGESHVLPLDEIGQETMTVTLLDANHCPGSVMFLFEGYFGTILYTGD
FRYTPSMLKEPALTLGKQIHTLYLDNTNCNPALVLPSRQEAAHQIVQLIRKHPQHNIKIG
LYSLGKESLLEQLALEFQTWVVLSPRRLELVQLLGLADVFTVEEKAGRIHAVDHMEICHS
NMLRWNQTHPTIAILPTSRKIHSSHPDIHVIPYSDHSSYSELRAFVAALKPCQVVPIVSR
RPCGGFQDSLSPRISVPLIPDSVQQYMSSSSRKPSLLWLLERRLKRPRTQGVVFESPEES
ADQSQADRDSKKAKKEKLSPWPADLEKQPSHHPLRIKKQLFPDLYSKEWNKAVPFCESQK
RVTMLTAPLGFSVHLRSTDEEFISQKTREEIGLGSPLVPMGDDDGGPEATGNQSAWMGHG
SPLSHSSKGTPLLATEFRGLALKYLLTPVNFFQAGYSSRRFDQQVEKYHKPC

Sequence length

532

Interactions

View interactions

	Reactome
			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
Dyskeratosis congenita, autosomal recessive 8	Pathogenic	rs769100574, rs201626532, rs763252884	RCV002462817 RCV002462818 RCV002462819	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Fanconi anemia complementation group C	Pathogenic	rs773744466, rs201357602	RCV003221327 RCV003221328	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (18)

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.
Autosomal recessive dyskeratosis congenita	Uncertain significance; Likely benign; Benign; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOVASCULAR DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CUTANEOUS MELANOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DCLRE1B-related disorder	Likely benign; Uncertain significance; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DYSKERATOSIS CONGENITA	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FANCONI ANEMIA, COMPLEMENTATION GROUP C	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hoyeraal-Hreidarsson syndrome	Uncertain significance; Likely benign; Benign; Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
MYOCARDIAL INFARCTION	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-MELANOMA SKIN CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RHEUMATOID ARTHRITIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPASTIC PARAPLEGIA, HEREDITARY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 1 DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (31)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Amyloidosis	Amyloidosis	BEFREE	28893208, 30586695, 30878017, 31322739, 31728713		★★★★★ ★☆☆☆☆ Found in Text Mining only
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED	Amyloidosis	BEFREE	30878017		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	GWASCAT_DG	23535729, 25751625, 29059683		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Carcinoma	Breast Carcinoma	BEFREE	30262195		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Neoplasms	Breast neoplasm	Pubtator	26472073, 29727689	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	37936074	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	38430974	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	29701748		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital chromosomal disease	Congenital Chromosomal Disease	BEFREE	21478198		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 1	Diabetes mellitus, type 1	Pubtator	36109769	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetic Retinopathy	Diabetic retinopathy	Pubtator	39719581	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Fanconi Anemia	Fanconi Anemia	BEFREE	21478198, 22907656, 23863462		★★★★★ ★☆☆☆☆ Found in Text Mining only
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)	Anemia	BEFREE	21478198, 22907656, 23863462		★★★★★ ★☆☆☆☆ Found in Text Mining only
Gastritis	Gastritis	Pubtator	37994393	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glaucoma, Open-Angle	Glaucoma	BEFREE	29761382		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary Breast and Ovarian Cancer Syndrome	Hereditary breast and ovarian cancer syndrome	Pubtator	29727689	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hoyeraal Hreidarsson syndrome	Hoyeraal hreidarsson syndrome	Pubtator	20479256	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
HOYERAAL-HREIDARSSON SYNDROME	Hoyeraal-Hreidarsson Syndrome	BEFREE	20479256		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
HOYERAAL-HREIDARSSON SYNDROME	Hoyeraal-Hreidarsson Syndrome	GENOMICS_ENGLAND_DG	20479256		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Malignant neoplasm of breast	Breast Cancer	GWASDB_DG	23535729		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	30262195		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	27459707		★★★★★ ★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	21671477	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Melanoma Cutaneous Malignant	Melanoma	Pubtator	21671477	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuropathy	Neuropathy	BEFREE	30489166		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ocular Hypertension	Ocular Hypertension	BEFREE	29761382		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	31108893	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	37936074	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Polyneuropathy	Polyneuropathy	BEFREE	28893208, 30489166, 30878017, 31728713		★★★★★ ★☆☆☆☆ Found in Text Mining only
Senile cardiac amyloidosis	Senile Cardiac Amyloidosis	BEFREE	30878017		★★★★★ ★☆☆☆☆ Found in Text Mining only
X-Linked Dyskeratosis Congenita	Dyskeratosis Congenita, X-Linked	BEFREE	20479256		★★★★★ ★☆☆☆☆ Found in Text Mining only

DCLRE1B (DNA cross-link repair 1B)