CRBN (cereblon)

Gene

• Entrez ID: 51185
• Gene name: Cereblon
• Gene symbol: CRBN
• Synonyms (NCBI Gene): MRT2, MRT2A
• Chromosome: 3
• Chromosome location: 3p26.2
• Summary: This gene encodes a protein related to the Lon protease protein family. In rodents and other mammals this gene product is found in the cytoplasm localized with a calcium channel membrane protein, and is thought to play a role in brain development. Mutatio

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs78564552	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Intron variant, missense variant, coding sequence variant, 5 prime UTR variant, non coding transcript variant
rs1575094649	G>C	Likely-pathogenic	Non coding transcript variant, stop gained, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT049014	hsa-miR-92a-3p	CLASH	23622248
MIRT908238	hsa-let-7a	CLIP-seq
MIRT908239	hsa-let-7b	CLIP-seq
MIRT908240	hsa-let-7c	CLIP-seq
MIRT908241	hsa-let-7d	CLIP-seq
MIRT908242	hsa-let-7e	CLIP-seq
MIRT908243	hsa-let-7f	CLIP-seq
MIRT908244	hsa-let-7g	CLIP-seq
MIRT908245	hsa-let-7i	CLIP-seq
MIRT908246	hsa-miR-183	CLIP-seq
MIRT908247	hsa-miR-23a	CLIP-seq
MIRT908248	hsa-miR-23b	CLIP-seq
MIRT908249	hsa-miR-23c	CLIP-seq
MIRT908250	hsa-miR-3074-3p	CLIP-seq
MIRT908251	hsa-miR-330-3p	CLIP-seq
MIRT908252	hsa-miR-361-5p	CLIP-seq
MIRT908253	hsa-miR-3658	CLIP-seq
MIRT908254	hsa-miR-3688-5p	CLIP-seq
MIRT908255	hsa-miR-3692	CLIP-seq
MIRT908256	hsa-miR-3942-3p	CLIP-seq
MIRT908257	hsa-miR-410	CLIP-seq
MIRT908258	hsa-miR-4328	CLIP-seq
MIRT908259	hsa-miR-4458	CLIP-seq
MIRT908260	hsa-miR-4470	CLIP-seq
MIRT908261	hsa-miR-4500	CLIP-seq
MIRT908262	hsa-miR-583	CLIP-seq
MIRT908263	hsa-miR-98	CLIP-seq
MIRT2205235	hsa-miR-1303	CLIP-seq
MIRT2205236	hsa-miR-2278	CLIP-seq
MIRT2205237	hsa-miR-3117-5p	CLIP-seq
MIRT2205238	hsa-miR-331-5p	CLIP-seq
MIRT2205239	hsa-miR-3910	CLIP-seq
MIRT2205240	hsa-miR-3922-5p	CLIP-seq
MIRT2205241	hsa-miR-483-3p	CLIP-seq
MIRT2205238	hsa-miR-331-5p	CLIP-seq
MIRT908238	hsa-let-7a	CLIP-seq
MIRT908239	hsa-let-7b	CLIP-seq
MIRT908240	hsa-let-7c	CLIP-seq
MIRT908241	hsa-let-7d	CLIP-seq
MIRT908242	hsa-let-7e	CLIP-seq
MIRT908243	hsa-let-7f	CLIP-seq
MIRT908244	hsa-let-7g	CLIP-seq
MIRT908245	hsa-let-7i	CLIP-seq
MIRT2508476	hsa-miR-101	CLIP-seq
MIRT2508477	hsa-miR-1206	CLIP-seq
MIRT2508478	hsa-miR-1244	CLIP-seq
MIRT2508479	hsa-miR-1262	CLIP-seq
MIRT2508480	hsa-miR-1271	CLIP-seq
MIRT2205235	hsa-miR-1303	CLIP-seq
MIRT2508481	hsa-miR-144	CLIP-seq
MIRT2508482	hsa-miR-151-3p	CLIP-seq
MIRT2508483	hsa-miR-182	CLIP-seq
MIRT908246	hsa-miR-183	CLIP-seq
MIRT2508484	hsa-miR-2052	CLIP-seq
MIRT2508485	hsa-miR-216a	CLIP-seq
MIRT2508486	hsa-miR-216b	CLIP-seq
MIRT908247	hsa-miR-23a	CLIP-seq
MIRT908248	hsa-miR-23b	CLIP-seq
MIRT908249	hsa-miR-23c	CLIP-seq
MIRT908250	hsa-miR-3074-3p	CLIP-seq
MIRT2508487	hsa-miR-30a	CLIP-seq
MIRT2508488	hsa-miR-30b	CLIP-seq
MIRT2508489	hsa-miR-30c	CLIP-seq
MIRT2508490	hsa-miR-30d	CLIP-seq
MIRT2508491	hsa-miR-30e	CLIP-seq
MIRT2205237	hsa-miR-3117-5p	CLIP-seq
MIRT2508492	hsa-miR-3140-3p	CLIP-seq
MIRT2508493	hsa-miR-3184	CLIP-seq
MIRT908251	hsa-miR-330-3p	CLIP-seq
MIRT2205238	hsa-miR-331-5p	CLIP-seq
MIRT908252	hsa-miR-361-5p	CLIP-seq
MIRT2508494	hsa-miR-3620	CLIP-seq
MIRT908253	hsa-miR-3658	CLIP-seq
MIRT2508495	hsa-miR-3671	CLIP-seq
MIRT2508496	hsa-miR-3685	CLIP-seq
MIRT908254	hsa-miR-3688-5p	CLIP-seq
MIRT2508497	hsa-miR-3691-3p	CLIP-seq
MIRT908255	hsa-miR-3692	CLIP-seq
MIRT2508498	hsa-miR-369-3p	CLIP-seq
MIRT2508499	hsa-miR-374c	CLIP-seq
MIRT2508500	hsa-miR-384	CLIP-seq
MIRT2205239	hsa-miR-3910	CLIP-seq
MIRT2508501	hsa-miR-3920	CLIP-seq
MIRT2205240	hsa-miR-3922-5p	CLIP-seq
MIRT2508502	hsa-miR-3924	CLIP-seq
MIRT2508503	hsa-miR-409-3p	CLIP-seq
MIRT2508504	hsa-miR-423-5p	CLIP-seq
MIRT2508505	hsa-miR-4257	CLIP-seq
MIRT2508506	hsa-miR-4301	CLIP-seq
MIRT2508507	hsa-miR-4305	CLIP-seq
MIRT2508508	hsa-miR-4307	CLIP-seq
MIRT908258	hsa-miR-4328	CLIP-seq
MIRT2508509	hsa-miR-4446-5p	CLIP-seq
MIRT908259	hsa-miR-4458	CLIP-seq
MIRT2508510	hsa-miR-4463	CLIP-seq
MIRT908260	hsa-miR-4470	CLIP-seq
MIRT2508511	hsa-miR-4474-5p	CLIP-seq
MIRT2508512	hsa-miR-4490	CLIP-seq
MIRT2508513	hsa-miR-4499	CLIP-seq
MIRT908261	hsa-miR-4500	CLIP-seq
MIRT2508514	hsa-miR-4642	CLIP-seq
MIRT2508515	hsa-miR-4659a-3p	CLIP-seq
MIRT2508516	hsa-miR-4659b-3p	CLIP-seq
MIRT2508517	hsa-miR-4678	CLIP-seq
MIRT2508518	hsa-miR-4701-3p	CLIP-seq
MIRT2508519	hsa-miR-4710	CLIP-seq
MIRT2508520	hsa-miR-4738-3p	CLIP-seq
MIRT2508521	hsa-miR-4755-5p	CLIP-seq
MIRT2508522	hsa-miR-4757-5p	CLIP-seq
MIRT2508523	hsa-miR-4774-5p	CLIP-seq
MIRT2508524	hsa-miR-4777-5p	CLIP-seq
MIRT2508525	hsa-miR-4780	CLIP-seq
MIRT2205241	hsa-miR-483-3p	CLIP-seq
MIRT2508526	hsa-miR-490-3p	CLIP-seq
MIRT2508527	hsa-miR-499-3p	CLIP-seq
MIRT2508528	hsa-miR-499a-3p	CLIP-seq
MIRT2508529	hsa-miR-518d-5p	CLIP-seq
MIRT2508530	hsa-miR-519b-5p	CLIP-seq
MIRT2508531	hsa-miR-519c-5p	CLIP-seq
MIRT2508532	hsa-miR-520c-5p	CLIP-seq
MIRT2508533	hsa-miR-526a	CLIP-seq
MIRT2508534	hsa-miR-548a-5p	CLIP-seq
MIRT2508535	hsa-miR-548ab	CLIP-seq
MIRT2508536	hsa-miR-548ak	CLIP-seq
MIRT2508537	hsa-miR-548b-5p	CLIP-seq
MIRT2508538	hsa-miR-548c-5p	CLIP-seq
MIRT2508539	hsa-miR-548d-5p	CLIP-seq
MIRT2508540	hsa-miR-548h	CLIP-seq
MIRT2508541	hsa-miR-548i	CLIP-seq
MIRT2508542	hsa-miR-548j	CLIP-seq
MIRT2508543	hsa-miR-548k	CLIP-seq
MIRT2508544	hsa-miR-548l	CLIP-seq
MIRT2508545	hsa-miR-548n	CLIP-seq
MIRT2508546	hsa-miR-548p	CLIP-seq
MIRT2508547	hsa-miR-548t	CLIP-seq
MIRT2508548	hsa-miR-548w	CLIP-seq
MIRT2508549	hsa-miR-548y	CLIP-seq
MIRT2508550	hsa-miR-559	CLIP-seq
MIRT2508551	hsa-miR-561	CLIP-seq
MIRT2508552	hsa-miR-562	CLIP-seq
MIRT2508553	hsa-miR-576-3p	CLIP-seq
MIRT2508554	hsa-miR-582-5p	CLIP-seq
MIRT908262	hsa-miR-583	CLIP-seq
MIRT2508555	hsa-miR-607	CLIP-seq
MIRT2508556	hsa-miR-630	CLIP-seq
MIRT2508557	hsa-miR-649	CLIP-seq
MIRT2508558	hsa-miR-655	CLIP-seq
MIRT2508559	hsa-miR-659	CLIP-seq
MIRT2508560	hsa-miR-711	CLIP-seq
MIRT2508561	hsa-miR-944	CLIP-seq
MIRT2508562	hsa-miR-96	CLIP-seq
MIRT908263	hsa-miR-98	CLIP-seq
MIRT908238	hsa-let-7a	CLIP-seq
MIRT908239	hsa-let-7b	CLIP-seq
MIRT908240	hsa-let-7c	CLIP-seq
MIRT908241	hsa-let-7d	CLIP-seq
MIRT908242	hsa-let-7e	CLIP-seq
MIRT908243	hsa-let-7f	CLIP-seq
MIRT908244	hsa-let-7g	CLIP-seq
MIRT908245	hsa-let-7i	CLIP-seq
MIRT2508476	hsa-miR-101	CLIP-seq
MIRT2508477	hsa-miR-1206	CLIP-seq
MIRT2508479	hsa-miR-1262	CLIP-seq
MIRT2508480	hsa-miR-1271	CLIP-seq
MIRT2508481	hsa-miR-144	CLIP-seq
MIRT2508482	hsa-miR-151-3p	CLIP-seq
MIRT2508483	hsa-miR-182	CLIP-seq
MIRT908246	hsa-miR-183	CLIP-seq
MIRT2508484	hsa-miR-2052	CLIP-seq
MIRT2508485	hsa-miR-216a	CLIP-seq
MIRT2508486	hsa-miR-216b	CLIP-seq
MIRT908247	hsa-miR-23a	CLIP-seq
MIRT908248	hsa-miR-23b	CLIP-seq
MIRT908249	hsa-miR-23c	CLIP-seq
MIRT908250	hsa-miR-3074-3p	CLIP-seq
MIRT2205237	hsa-miR-3117-5p	CLIP-seq
MIRT2508493	hsa-miR-3184	CLIP-seq
MIRT908251	hsa-miR-330-3p	CLIP-seq
MIRT2205238	hsa-miR-331-5p	CLIP-seq
MIRT908252	hsa-miR-361-5p	CLIP-seq
MIRT2508495	hsa-miR-3671	CLIP-seq
MIRT2508496	hsa-miR-3685	CLIP-seq
MIRT908254	hsa-miR-3688-5p	CLIP-seq
MIRT2508497	hsa-miR-3691-3p	CLIP-seq
MIRT908255	hsa-miR-3692	CLIP-seq
MIRT2508498	hsa-miR-369-3p	CLIP-seq
MIRT2508499	hsa-miR-374c	CLIP-seq
MIRT2508500	hsa-miR-384	CLIP-seq
MIRT2205239	hsa-miR-3910	CLIP-seq
MIRT2205240	hsa-miR-3922-5p	CLIP-seq
MIRT2508502	hsa-miR-3924	CLIP-seq
MIRT2508503	hsa-miR-409-3p	CLIP-seq
MIRT2508504	hsa-miR-423-5p	CLIP-seq
MIRT2508505	hsa-miR-4257	CLIP-seq
MIRT2508506	hsa-miR-4301	CLIP-seq
MIRT2508507	hsa-miR-4305	CLIP-seq
MIRT2508508	hsa-miR-4307	CLIP-seq
MIRT908258	hsa-miR-4328	CLIP-seq
MIRT2508509	hsa-miR-4446-5p	CLIP-seq
MIRT908259	hsa-miR-4458	CLIP-seq
MIRT2508510	hsa-miR-4463	CLIP-seq
MIRT908260	hsa-miR-4470	CLIP-seq
MIRT2508511	hsa-miR-4474-5p	CLIP-seq
MIRT2508512	hsa-miR-4490	CLIP-seq
MIRT2508513	hsa-miR-4499	CLIP-seq
MIRT908261	hsa-miR-4500	CLIP-seq
MIRT2508514	hsa-miR-4642	CLIP-seq
MIRT2508515	hsa-miR-4659a-3p	CLIP-seq
MIRT2508516	hsa-miR-4659b-3p	CLIP-seq
MIRT2508517	hsa-miR-4678	CLIP-seq
MIRT2508518	hsa-miR-4701-3p	CLIP-seq
MIRT2508519	hsa-miR-4710	CLIP-seq
MIRT2508520	hsa-miR-4738-3p	CLIP-seq
MIRT2508521	hsa-miR-4755-5p	CLIP-seq
MIRT2508522	hsa-miR-4757-5p	CLIP-seq
MIRT2508523	hsa-miR-4774-5p	CLIP-seq
MIRT2508524	hsa-miR-4777-5p	CLIP-seq
MIRT2508525	hsa-miR-4780	CLIP-seq
MIRT2205241	hsa-miR-483-3p	CLIP-seq
MIRT2508527	hsa-miR-499-3p	CLIP-seq
MIRT2508528	hsa-miR-499a-3p	CLIP-seq
MIRT2508529	hsa-miR-518d-5p	CLIP-seq
MIRT2508530	hsa-miR-519b-5p	CLIP-seq
MIRT2508531	hsa-miR-519c-5p	CLIP-seq
MIRT2508532	hsa-miR-520c-5p	CLIP-seq
MIRT2508533	hsa-miR-526a	CLIP-seq
MIRT2508534	hsa-miR-548a-5p	CLIP-seq
MIRT2508535	hsa-miR-548ab	CLIP-seq
MIRT2508536	hsa-miR-548ak	CLIP-seq
MIRT2508537	hsa-miR-548b-5p	CLIP-seq
MIRT2508538	hsa-miR-548c-5p	CLIP-seq
MIRT2508539	hsa-miR-548d-5p	CLIP-seq
MIRT2508540	hsa-miR-548h	CLIP-seq
MIRT2508541	hsa-miR-548i	CLIP-seq
MIRT2508542	hsa-miR-548j	CLIP-seq
MIRT2508543	hsa-miR-548k	CLIP-seq
MIRT2508544	hsa-miR-548l	CLIP-seq
MIRT2508545	hsa-miR-548n	CLIP-seq
MIRT2508547	hsa-miR-548t	CLIP-seq
MIRT2508548	hsa-miR-548w	CLIP-seq
MIRT2508549	hsa-miR-548y	CLIP-seq
MIRT2508550	hsa-miR-559	CLIP-seq
MIRT2508551	hsa-miR-561	CLIP-seq
MIRT2508553	hsa-miR-576-3p	CLIP-seq
MIRT2508554	hsa-miR-582-5p	CLIP-seq
MIRT908262	hsa-miR-583	CLIP-seq
MIRT2508555	hsa-miR-607	CLIP-seq
MIRT2508556	hsa-miR-630	CLIP-seq
MIRT2508558	hsa-miR-655	CLIP-seq
MIRT2508560	hsa-miR-711	CLIP-seq
MIRT2508561	hsa-miR-944	CLIP-seq
MIRT2508562	hsa-miR-96	CLIP-seq
MIRT908263	hsa-miR-98	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	20223979, 24292623, 25416956, 26131937, 26909574, 31515488, 32296183, 32814053, 35271311
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	20223979
GO:0005634	Component	Nucleus	IEA
GO:0005737	Component	Cytoplasm	IDA	20223979
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	TAS
GO:0016020	Component	Membrane	IEA
GO:0016567	Process	Protein ubiquitination	IEA
GO:0016567	Process	Protein ubiquitination	IMP	20223979
GO:0030177	Process	Positive regulation of Wnt signaling pathway	IBA
GO:0030177	Process	Positive regulation of Wnt signaling pathway	IMP	34489457
GO:0031333	Process	Negative regulation of protein-containing complex assembly	IEA
GO:0031334	Process	Positive regulation of protein-containing complex assembly	IEA
GO:0031464	Component	Cul4A-RING E3 ubiquitin ligase complex	IBA
GO:0031464	Component	Cul4A-RING E3 ubiquitin ligase complex	IDA	20223979
GO:0034766	Process	Negative regulation of monoatomic ion transmembrane transport	IEA
GO:0035641	Process	Locomotory exploration behavior	IEA
GO:0043161	Process	Proteasome-mediated ubiquitin-dependent protein catabolic process	IBA
GO:0043161	Process	Proteasome-mediated ubiquitin-dependent protein catabolic process	IMP	20223979
GO:0044325	Function	Transmembrane transporter binding	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0048471	Component	Perinuclear region of cytoplasm	IEA
GO:0060173	Process	Limb development	IBA

Other IDs

• MIM: 609262
• HGNC: 30185
• e!Ensembl: ENSG00000113851

Protein

• UniProt ID: Q96SW2
• Protein name: Protein cereblon
• Protein function: Substrate recognition component of a DCX (DDB1-CUL4-X-box) E3 protein ligase complex that mediates the ubiquitination and subsequent proteasomal degradation of target proteins, such as MEIS2, ILF2 or GLUL (PubMed:26990986, PubMed:33009960). Norm
• PDB: 4M91, 4TZ4, 5FQD, 5HXB, 5V3O, 6BN7, 6BN8, 6BN9, 6BNB, 6BOY, 6H0F, 6H0G, 6UML, 6XK9, 7BQU, 7BQV, 7LPS, 7U8F, 8CVP, 8D7U, 8D7V, 8D7W, 8D7X, 8D7Y, 8D7Z, 8D80, 8D81, 8DEY, 8G66, 8OIZ, 8OJH, 8RQ1, 8RQ8, 8RQ9, 8RQA, 8RQC, 8TNP, 8TNQ, 8TNR, 8TZX, 8U15, 8U16, 8U17, 8UH6, 9CUO, 9DJT, 9DJX, 9DQD, 9FJX, 9GAO
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF02190	LON_substr_bdg	80 → 317	ATP-dependent protease La (LON) substrate-binding domain	Family
  PF03226	Yippee-Mis18	319 → 437	Yippee zinc-binding/DNA-binding /Mis18, centromere assembly	Domain

• Tissue specificity: TISSUE SPECIFICITY: Widely expressed. Highly expressed in brain. {ECO:0000269|PubMed:15557513, ECO:0000269|PubMed:17380424}.
• Sequence:

  MAGEGDQQDAAHNMGNHLPLLPAESEEEDEMEVEDQDSKEAKKPNIINFDTSLPTSHTYL
  GADMEEFHGRTLHDDDSCQVIPVLPQVMMILIPGQTLPLQLFHPQEVSMVRNLIQKDRTF
  AVLAYSNVQEREAQFGTTAEIYAYREEQDFGIEIVKVKAIGRQRFKVLELRTQSDGIQQA
  KVQILPECVLPSTMSAVQLESLNKCQIFPSKPVSREDQCSYKWWQKYQKRKFHCANLTSW
  PRWLYSLYDAETLMDRIKKQLREWDENLKDDSLPSNPIDFSYRVAACLPIDDVLRIQLLK
  IGSAIQRLRCELDIMNKCTSLCCKQCQETEITTKNEIFSLSLCGPMAAYVNPHGYVHETL
  TVYKACNLNLIGRPSTEHSWFPGYAWTVAQCKICASHIGWKFTATKKDMSPQKFWGLTRS
  ALLPTIPDTEDEISPDKVILCL

• Sequence length: 442

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
Intellectual disability, autosomal recessive 2	Pathogenic; Likely pathogenic	rs1302797003, rs1707782133, rs797045036, rs1575094649, rs1226252969	RCV001334906 RCV001779412 RCV000191075 RCV001328947 RCV001264812	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Multiple myeloma	Likely pathogenic	rs1575079076	RCV000984098	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ASTHMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL RECESSIVE NON-SYNDROMIC INTELLECTUAL DISABILITY	—	Disgenet, Orphanet Disgenet, Orphanet Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHILDHOOD ONSET ASTHMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHOLECYSTITIS, ACUTE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHOLELITHIASIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic lymphocytic leukemia/small lymphocytic lymphoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL NEUROLOGIC ANOMALIES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CRBN-related disorder	Likely benign; Benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EATING DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 2	—	Disgenet, HPO Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual disability	Uncertain significance	ClinVar ClinGen, ClinVar, Disgenet ClinGen, ClinVar, Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Malignant tumor of esophagus	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 2	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS, KNEE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PANCREATIC CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RESTLESS LEGS SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPORADIC AMYOTROPHIC LATERAL SCLEROSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SUBSTANCE ABUSE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VASCULAR DEMENTIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Absence of septum pellucidum	Absence Of Septum Pellucidum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Adult Diffuse Large B-Cell Lymphoma	B-cell Lymphoma	BEFREE	23252516		★☆☆☆☆ Found in Text Mining only
Anophthalmos with limb anomalies	Anophthalmia	Pubtator	31964914	Associate	★☆☆☆☆ Found in Text Mining only
Attention Deficit Disorder with Hyperactivity	Attention deficit hyperactivity disorder	Pubtator	35052433	Associate	★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Auditory Perceptual Disorders	Auditory perceptual disorder	Pubtator	35052433	Associate	★☆☆☆☆ Found in Text Mining only
Autistic behavior	Autism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Autosomal recessive non-syndromic intellectual disability	Non-Syndromic Intellectual Disability	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bone Diseases	Bone Disease	BEFREE	29353038		★☆☆☆☆ Found in Text Mining only
Central visual impairment	Central Visual Impairment	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebral atrophy	Cerebral Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Clumsiness - motor delay	Motor delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognitive disorder	BEFREE	28143899		★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	28143899	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	35848491	Associate	★☆☆☆☆ Found in Text Mining only
Congenital neurologic anomalies	Drachtman Weinblatt Sitarz syndrome	CTD_human_DG	27751757		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Constipation	Constipation	Pubtator	31115923	Associate	★☆☆☆☆ Found in Text Mining only
Cortical Dysplasia	Cortical Dysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cranioschisis	Anencephaly	CTD_human_DG	27751757		★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	HPO_DG			★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	29730289		★☆☆☆☆ Found in Text Mining only
Diarrhea	Diarrhea	Pubtator	31115923	Associate	★☆☆☆☆ Found in Text Mining only
Diffuse Large B-Cell Lymphoma	Diffuse Lymphoma	BEFREE	23252516, 26002965		★☆☆☆☆ Found in Text Mining only
Dyskinetic syndrome	Dyskinetic Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dyssomnias	Dyssomnia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Gastric lymphoma	Gastric lymphoma	BEFREE	28833354		★☆☆☆☆ Found in Text Mining only
Gastrointestinal Diseases	Gastrointestinal disease	Pubtator	31115923, 36383784	Associate	★☆☆☆☆ Found in Text Mining only
Generalized seizures	Seizure	HPO_DG			★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	BEFREE	25858704		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hyperbilirubinemia	Hyperbilirubinemia	BEFREE	31619706		★☆☆☆☆ Found in Text Mining only
Hyperbilirubinemia	Hyperbilirubinemia	Pubtator	31619706	Associate	★☆☆☆☆ Found in Text Mining only
Hypoplasia of corpus callosum	Hypoplasia Of Corpus Callosum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	28143899		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	15151510, 17036314, 18414909, 21995942, 23983124, 24755080, 25858704, 26188093, 27329811, 28894755, 29170136, 29370161, 29459374, 29530986, 30836149		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Intellectual Disability	Mental retardation	LHGDN	15557513		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Intellectual Disability	Intellectual developmental disorder	Pubtator	15557513, 16033914, 23983124, 26024445, 28143899	Associate	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Kidney Neoplasms	Kidney neoplasm	Pubtator	31810986	Associate	★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	30739444		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	29945920	Stimulate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	28425720, 29945920		★☆☆☆☆ Found in Text Mining only
Malignant lymphoma, lymphocytic, intermediate differentiation, diffuse	Malignant lymphoma, lymphocytic, intermediate differentiation	BEFREE	28529032		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	22422151		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	29449372		★☆☆☆☆ Found in Text Mining only
Mantle cell lymphoma	Mantle Cell Lymphoma	BEFREE	28529032		★☆☆☆☆ Found in Text Mining only
Mental Retardation	Mental retardation	BEFREE	15151510, 17036314, 18414909, 23983124, 24755080, 28894755, 29170136		★☆☆☆☆ Found in Text Mining only
Mental Retardation, Autosomal Recessive 2	Mental retardation	UNIPROT_DG	15557513, 28143899		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mental Retardation, Autosomal Recessive 2	Mental retardation	GENOMICS_ENGLAND_DG	18414909		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mental Retardation, Autosomal Recessive 2	Mental retardation	CLINVAR_DG	26633545		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mental Retardation, Autosomal Recessive 2	Mental retardation	BEFREE	31773520		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mental Retardation, Autosomal Recessive 2	Mental retardation	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Metabolic Diseases	Metabolic Diseases	BEFREE	28894755, 29170136		★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mild Mental Retardation	Mental retardation	BEFREE	17380424		★☆☆☆☆ Found in Text Mining only
Mild Mental Retardation	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	33408001	Associate	★☆☆☆☆ Found in Text Mining only
Moderate intellectual disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mucosa-Associated Lymphoid Tissue Lymphoma	Mucosa-associated lymphoma	BEFREE	28833354		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	21860026, 22552008, 23233657, 23565715, 24129344, 24206017, 24687382, 24914135, 26186254, 26269456, 26430725, 27142104, 27458004, 28083618, 28643330, 29130642, 30026574, 30696815, 30741931, 31115923, 31619706, 32061138, 33416146, 33443552, 33547076, 34115836, 34455369, 34482362, 34583995, 37815734, 39841463	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Multiple Myeloma	Multiple myeloma	BEFREE	22966948, 23233657, 23992230, 24118365, 24129344, 24206017, 24292623, 24687382, 25284710, 25843596, 25860244, 27142104, 27458004, 27618360, 28028022, 28083618, 28643330, 28833354, 28926977, 28927072, 29718735, 30026574, 30042095, 30312729, 30338042, 30602127, 30606790, 30696815, 30741931, 30975979, 31115923, 31271281, 31653349, 31746254		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Multiple Myeloma	Multiple myeloma	CTD_human_DG	26186254		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Multiple Myeloma	Multiple myeloma	CGI_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	BEFREE	25284710, 27294874, 30064974		★☆☆☆☆ Found in Text Mining only
Myelodysplastic Syndromes	Myelodysplastic syndrome	Pubtator	30042095	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	31184224, 31773520		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	27329811		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	34772733	Associate	★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	29272390		★☆☆☆☆ Found in Text Mining only
Neurodevelopmental Disorders	Neurodevelopmental disorder	Pubtator	24687382	Associate	★☆☆☆☆ Found in Text Mining only
Osteopenia	Osteopenia	BEFREE	29353038		★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	BEFREE	29353038		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	32893006	Associate	★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Nervous System Diseases	BEFREE	31115923		★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Peripheral nervous system disease	Pubtator	31115923	Associate	★☆☆☆☆ Found in Text Mining only
Peripheral Neuropathy	Peripheral Neuropathy	BEFREE	31115923		★☆☆☆☆ Found in Text Mining only
Polymicrogyria	Polymicrogyria	HPO_DG			★☆☆☆☆ Found in Text Mining only
Polyneuropathies	Polyneuropathy	Pubtator	31115923	Associate	★☆☆☆☆ Found in Text Mining only
Polyneuropathy	Polyneuropathy	BEFREE	31115923		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	22422151		★☆☆☆☆ Found in Text Mining only
Restless Legs Syndrome	Willis-ekbom disease	Pubtator	32729462	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RETINITIS PIGMENTOSA AND ERYTHROCYTIC MICROCYTOSIS	Retinitis Pigmentosa And Erythrocytic Microcytosis	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Salaam Seizures	Salaam Seizures	HPO_DG			★☆☆☆☆ Found in Text Mining only
Seizures	Seizures	Pubtator	28143899	Associate	★☆☆☆☆ Found in Text Mining only
Septicemia	Septicemia	BEFREE	29170136		★☆☆☆☆ Found in Text Mining only
Severe intellectual disability	Mental retardation	BEFREE	28143899		★☆☆☆☆ Found in Text Mining only
Severe intellectual disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sleep Disorders	Sleep Disorders	HPO_DG			★☆☆☆☆ Found in Text Mining only
Stereotyped Behavior	Stereotyped Behavior	HPO_DG			★☆☆☆☆ Found in Text Mining only
Trichohepatoenteric Syndrome	Trichohepatoenteric Syndrome	BEFREE	21457564		★☆☆☆☆ Found in Text Mining only