CRBN (cereblon)

Gene

• Entrez ID: 51185
• Gene name: Cereblon
• Gene symbol: CRBN
• Synonyms: 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, 25416956, 26131937, 26909574, 31515488, 32296183, 32814053
GO:0005634	Component	Nucleus	IDA	20223979
GO:0005737	Component	Cytoplasm	IDA	20223979
GO:0016020	Component	Membrane	IEA
GO:0016567	Process	Protein ubiquitination	IBA	21873635
GO:0016567	Process	Protein ubiquitination	IEA
GO:0016567	Process	Protein ubiquitination	IMP	20223979
GO:0031464	Component	Cul4A-RING E3 ubiquitin ligase complex	IBA	21873635
GO:0031464	Component	Cul4A-RING E3 ubiquitin ligase complex	IDA	20223979
GO:0043161	Process	Proteasome-mediated ubiquitin-dependent protein catabolic process	IMP	20223979
GO:0046872	Function	Metal ion binding	IEA

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

• Sequence:

  MAGEGDQQDAAHNMGNHLPLLPAESEEEDEMEVEDQDSKEAKKPNIINFDTSLPTSHTYL
  GADMEEFHGRTLHDDDSCQVIPVLPQVMMILIPGQTLPLQLFHPQEVSMVRNLIQKDRTF
  AVLAYSNVQEREAQFGTTAEIYAYREEQDFGIEIVKVKAIGRQRFKVLELRTQSDGIQQA
  KVQILPECVLPSTMSAVQLESLNKCQIFPSKPVSREDQCSYKWWQKYQKRKFHCANLTSW
  PRWLYSLYDAETLMDRIKKQLREWDENLKDDSLPSNPIDFSYRVAACLPIDDVLRIQLLK
  IGSAIQRLRCELDIMNKCTSLCCKQCQETEITTKNEIFSLSLCGPMAAYVNPHGYVHETL
  TVYKACNLNLIGRPSTEHSWFPGYAWTVAQCKICASHIGWKFTATKKDMSPQKFWGLTRS
  ALLPTIPDTEDEISPDKVILCL

• Sequence length: 442

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Anencephaly	Cranioschisis	rs773607884	27751757
Attention deficit hyperactivity disorder	Attention deficit hyperactivity disorder	rs120074176, rs786205019
Autism	Autistic behavior	rs121964908, rs121912597, rs2710102, rs7794745, rs142990298, rs62643608, rs181327458, rs797046134, rs869312704, rs1555013332, rs876657679, rs1057518999, rs1057518658, rs771827120, rs1555187899, rs773080572, rs753871454, rs1684130791, rs1684180699, rs1553510219, rs1684182454, rs1559060428, rs1553510677, rs1576352885, rs1574152522, rs1574152672, rs1696658542, rs1751123722, rs1750373491, rs1751075634
Developmental delay	Global developmental delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291, rs886041382, rs1057518991, rs1057518699, rs753254213, rs748294403, rs762552974, rs1135401795, rs1553121073, rs1553122926, rs1364690005, rs1554086554, rs1554210415, rs1554168326, rs1554776342, rs1553873247, rs1567860112, rs779009256, rs1557447255, rs1564568350, rs780011005, rs1597464953, rs1200336864, rs1569513017, rs1587459606, rs1570332505, rs748888652, rs1575155995, rs2087029320, rs1589669105, rs1601769604, rs1184981709, rs749201074
Mental retardation	Severe intellectual disability, Mild Mental Retardation, Moderate intellectual disability, Mental Retardation, Autosomal Recessive 2	rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315, rs121918316, rs397515320, rs121434489, rs1585215916, rs267607233, rs267606752, rs137852214, rs606231193, rs132630297, rs80338758, rs137852815, rs122455132, rs28935171, rs122453113, rs122445108, rs28934904, rs28934908, rs28935468, rs61748421, rs121918624, rs202060209, rs80338708, rs113994198, rs199422192, rs387906635, rs1554770064, rs1057519611, rs1060499526, rs387906636, rs1057519612, rs281875189, rs281875322, rs387906799, rs387906804, rs875989800, rs797045262, rs387906845, rs387906846, rs876657378, rs281875227, rs281875228, rs281875229, rs281875230, rs387906861, rs370667926, rs387906932, rs387906943, rs1557612719, rs387907190, rs387907191, rs2126499522, rs587776908, rs1560982564, rs80359505, rs398123009, rs587776929, rs587776930, rs397514555, rs398122824, rs398122825, rs397514556, rs2147483647, rs587776937, rs397514627, rs397514655, rs397514656, rs730882192, rs1587520018, rs1581995953, rs1554121970, rs1581987445, rs397514670, rs376395543, rs137854128, rs397509411, rs397509412, rs397514741, rs398122394, rs879255516, rs397518483, rs398122406, rs398122412, rs398123561, rs200667343, rs587777162, rs587777202, rs62507350, rs587777219, rs587777225, rs587777226, rs587779750, rs587777326, rs587777334, rs281875332, rs587780470, rs587780474, rs587780486, rs587777378, rs587777406, rs587777408, rs587777409, rs587777411, rs587777522, rs527236034, rs527236035, rs267608571, rs267608382, rs267608597, rs61753979, rs61751444, rs267608493, rs587777644, rs587777645, rs587777646, rs587777703, rs587779388, rs606231266, rs606231267, rs672601340, rs606231268, rs672601341, rs606231269, rs672601342, rs606231270, rs606231271, rs606231272, rs606231273, rs587784566, rs587784092, rs587783749, rs587783747, rs587783640, rs587783483, rs606231456, rs606231457, rs606231458, rs606231459, rs672601370, rs672601369, rs672601371, rs672601367, rs672601366, rs672601365, rs672601364, rs672601363, rs672601362, rs672601376, rs672601377, rs672601378, rs724159949, rs724159950, rs724159948, rs724159956, rs724159953, rs727502860, rs727502861, rs730882197, rs749995448, rs786205143, rs794726770, rs1135401808, rs786205583, rs786205595, rs786205859, rs794727792, rs794727928, rs794729221, rs797044519, rs797044523, rs797044521, rs797044524, rs797044526, rs797044522, rs797044520, rs794727642, rs796052719, rs781746113, rs796052510, rs796052733, rs796052724, rs796052728, rs796052676, rs796053353, rs796053366, rs796053368, rs1555103986, rs1555110818, rs796052571, rs1555110843, rs796052626, rs796052618, rs796053290, rs796052217, rs672601368, rs797045164, rs797044961, rs797044962, rs200070245, rs797044963, rs869320675, rs869320676, rs797045012, rs752746786, rs797044885, rs797044925, rs797044854, rs797044849, rs797044930, rs797044901, rs797044918, rs797044884, rs797045177, rs797045178, rs797045050, rs797045036, rs797045053, rs797045047, rs797045037, rs797045042, rs797045041, rs879255261, rs782397980, rs797045263, rs797045264, rs797045655, rs797045586, rs545185248, rs797046031, rs797046028, rs797046029, rs797046030, rs797045249, rs797045529, rs797045952, rs797045984, rs797045540, rs797045539, rs797045989, rs863224930, rs869025202, rs863225264, rs863225077, rs876661308, rs869025222, rs864309560, rs758252808, rs745756308, rs869025286, rs869025287, rs869025578, rs143038880, rs869025579, rs869025580, rs869025581, rs869312704, rs869312674, rs869312677, rs869312689, rs869312693, rs869312698, rs869312708, rs869312711, rs869312826, rs869312825, rs869312824, rs869312823, rs758432471, rs869312821, rs761993070, rs869312844, rs869312842, rs869312843, rs869312841, rs869312847, rs869320632, rs869312955, rs773432002, rs869320713, rs869320772, rs869320773, rs879255270, rs875989848, rs875989849, rs1716457622, rs2108414289, rs878854401, rs875989786, rs1085307109, rs1085307108, rs876657679, rs876661167, rs876661076, rs876661055, rs876661219, rs876661064, rs876661151, rs876661041, rs200440467, rs876661295, rs878853045, rs878853143, rs878853142, rs878853149, rs1555910048, rs878853152, rs878853146, rs878853145, rs878853141, rs878853151, rs878853144, rs878853148, rs878853147, rs878853251, rs878853269, rs879253762, rs886037841, rs879253888, rs879253931, rs879254016, rs879255618, rs879255619, rs879255620, rs886037847, rs879255621, rs886039332, rs746177928, rs886039520, rs886041003, rs886041058, rs750035706, rs886041059, rs886041060, rs886041061, rs886041090, rs886041088, rs886041089, rs886041095, rs886041097, rs886041989, rs886041944, rs886041692, rs886041593, rs886041687, rs886041207, rs886041309, rs886041239, rs886041448, rs138336847, rs149644940, rs886041295, rs886041521, rs886041125, rs886042041, rs886041238, rs886041469, rs886041197, rs886041291, rs886041658, rs886041705, rs886041876, rs139716296, rs1057516030, rs1057517408, rs749655461, rs141179774, rs370916968, rs1057517676, rs1057517933, rs1057517708, rs1057518352, rs1057518183, rs1057518474, rs1057518204, rs1057517825, rs1057518796, rs1057518961, rs1057518772, rs1057518988, rs1057519004, rs1057518700, rs772450541, rs371310428, rs1057519019, rs1057519491, rs1057519546, rs1057519560, rs1057519565, rs1057519400, rs1057519402, rs1057519405, rs1057519593, rs1057519594, rs1057519628, rs1556912828, rs1060505029, rs1060505030, rs147001633, rs1057519947, rs1057519617, rs1057524832, rs774592932, rs797045045, rs1039571136, rs1555910821, rs1060499626, rs1060499655, rs1554770185, rs1060499936, rs1060501153, rs1060501151, rs1064792984, rs1060503378, rs1060503386, rs1060503383, rs1060500046, rs1064792999, rs1060505033, rs1064796564, rs1064797002, rs1064793161, rs150802299, rs1064796830, rs1064794996, rs1064795444, rs1064796034, rs1064796403, rs1064794979, rs1064796765, rs1064793539, rs760933323, rs1064793546, rs1064796406, rs1064796367, rs780441716, rs1064794894, rs1064796023, rs1064797355, rs1085307484, rs1064794935, rs1085307547, rs1131690804, rs757511770, rs1131691875, rs1131691979, rs398122823, rs1131691866, rs1131692159, rs1131692228, rs1131692154, rs113331868, rs1554121872, rs1554121875, rs926027867, rs1554122123, rs1554122129, rs1287121256, rs1554122526, rs1554123982, rs1554385102, rs1554385111, rs1554385305, rs1554386687, rs1554389088, rs1554402092, rs1554434435, rs1135401778, rs1135401760, rs1135401770, rs1135401771, rs1135401768, rs1135401779, rs1135401805, rs1135401797, rs1135401799, rs1135401816, rs1135401823, rs1135401824, rs1555769968, rs1135401825, rs1135401955, rs1135401956, rs1135401957, rs1135401958, rs1554129040, rs1554150543, rs1553188463, rs1553146165, rs1485978447, rs1361547443, rs750079325, rs369692236, rs1554231836, rs749188610, rs1554122735, rs1554689877, rs1174482090, rs781053477, rs1554623112, rs1555409836, rs1555411305, rs770014321, rs1555984461, rs1555990958, rs762292772, rs1554944271, rs1057524157, rs1485749468, rs1555984343, rs1293450628, rs373584239, rs1553722309, rs1553738686, rs1376334317, rs1553722294, rs1553283831, rs1554120589, rs1555985554, rs1555877287, rs1555411378, rs750922282, rs1553264873, rs1554263326, rs1554264268, rs1554263626, rs1554263625, rs766614772, rs1553620494, rs1555050158, rs1555050165, rs1555050171, rs1555050174, rs765556214, rs1402086660, rs1554645052, rs1555661648, rs1293246328, rs749494995, rs775592405, rs1553265189, rs1553242856, rs1553247374, rs1553241570, rs1553997065, rs1553998565, rs1380822792, rs1555028154, rs1555023232, rs1553194155, rs1553130904, rs1553152590, rs1553567864, rs1553638614, rs120074160, rs1554486894, rs1554767754, rs1554843977, rs1555443581, rs1555443600, rs1555439545, rs1555525088, rs770680174, rs1555889130, rs373178770, rs1555985532, rs1553519853, rs781325598, rs1410587479, rs1553638086, rs150259543, rs1554093891, rs1554121228, rs1554120498, rs1554121189, rs1212517874, rs1554770628, rs1555979158, rs1554770054, rs771610568, rs1451230055, rs1554770624, rs1555906707, rs1555906768, rs1555906781, rs1555907620, rs1555907623, rs1555907626, rs1555907653, rs1555907864, rs1554094145, rs1554202698, rs1554200722, rs773327091, rs1555607621, rs1555604778, rs1555607159, rs1555607682, rs1553364018, rs1553324416, rs1555411394, rs1554102556, rs1554122363, rs1555705966, rs1555103971, rs1555408401, rs1554461593, rs1554304254, rs1554120978, rs1047509819, rs1555982601, rs767774867, rs1554789246, rs1555111511, rs1555950676, rs1555954380, rs1555985649, rs1553194162, rs1553518509, rs1274633498, rs1554274371, rs1554122252, rs1554122458, rs1554122729, rs1554297905, rs1554776342, rs1554770046, rs1554770667, rs1554792556, rs1452715535, rs1555444885, rs1555534147, rs1427624649, rs1555611722, rs1555744282, rs1555706391, rs1178702025, rs1555984102, rs1554770589, rs1554121443, rs1559791842, rs1559824939, rs1555889127, rs1236702036, rs1553510280, rs1553511175, rs1553511226, rs1554150552, rs1554275163, rs1554201137, rs1553517991, rs1553518511, rs1553517984, rs1553518752, rs1554119814, rs1554122293, rs1554122341, rs1554122689, rs1554770243, rs1554770444, rs1557045250, rs959316981, rs1556270312, rs1553270640, rs978179634, rs1554093884, rs1491240980, rs1555943484, rs1554121453, rs1334099693, rs1554048616, rs1555660806, rs1555644480, rs1555651572, rs1567844992, rs1567855081, rs1567855669, rs1567855704, rs1567856045, rs1567856331, rs1567860075, rs1567860112, rs1567860640, rs1567860891, rs754919272, rs1567860919, rs1567861468, rs1567861489, rs1567861501, rs1567861894, rs1567863732, rs1567864750, rs1567877108, rs1567878511, rs758785463, rs1553808301, rs1553245038, rs1553789166, rs1553813646, rs1553631860, rs1554121265, rs1554770262, rs1555034768, rs1555984433, rs779009256, rs1553994814, rs1553996086, rs1553996072, rs1553270599, rs1553153291, rs760262127, rs1554119274, rs1554121878, rs1554387293, rs1554385203, rs757077698, rs750612085, rs1554776500, rs1564360978, rs1554776933, rs1554776938, rs1565278132, rs1567368243, rs1558478047, rs375695605, rs1558479778, rs1558501648, rs1565240833, rs114727354, rs1557591264, rs1557620758, rs1559099927, rs1561788984, rs369459721, rs1563831738, rs1562159088, rs1562159562, rs1562159599, rs1559094754, rs1559328283, rs755634856, rs1561784687, rs1554122296, rs1561789313, rs1562720119, rs1564363665, rs1561697465, rs1561785003, rs1561787845, rs1561789215, rs1554122305, rs1561784553, rs1561784560, rs1561787690, rs1554122888, rs749632782, rs1567139896, rs1569370887, rs1569371303, rs1564493599, rs1561875779, rs1569146542, rs1569146649, rs1275489527, rs1560115921, rs1468772495, rs749969789, rs1560108090, rs1569376809, rs1569355102, rs1560103306, rs1564365418, rs1559855453, rs1562928193, rs1558149913, rs1253072668, rs141976414, rs1558371790, rs1557898800, rs1567758622, rs1567844041, rs1567844114, rs1567920106, rs1567920209, rs138247472, rs1567974030, rs1567995650, rs1283838287, rs1568003569, rs1568006217, rs1568018905, rs1562505675, rs1561783309, rs1555980234, rs1559087186, rs1560966086, rs1560330387, rs769471341, rs1562493608, rs1562505335, rs1554121861, rs1554122200, rs1562957809, rs1568097623, rs1391600900, rs1568234874, rs1568235086, rs1555990955, rs1567870541, rs1557570794, rs1562869207, rs1571818248, rs1431778557, rs369691608, rs1595808957, rs1597665063, rs1597846084, rs1603401125, rs1603350606, rs1601946481, rs1601932069, rs1602880906, rs1602308324, rs1574554519, rs1573882268, rs1603198937, rs1558148010, rs1558498928, rs1569459580, rs1569380375, rs1560062082, rs1557889974, rs1558414255, rs756429763, rs781663444, rs1569016820, rs1569017025, rs1569017160, rs1557612048, rs1568504941, rs1581987022, rs1576983339, rs1599892470, rs1265340906, rs1602284689, rs1574949440, rs1576220938, rs1576280892, rs1576288424, rs1574459612, rs1574511051, rs1575654528, rs1577094794, rs1294683568, rs771819481, rs1580984895, rs1581338441, rs1580988138, rs1581980317, rs1581986872, rs1554121207, rs1581987268, rs1581987476, rs1581987885, rs763770519, rs1581991929, rs1581992099, rs1581992998, rs1581995453, rs1554122242, rs1581996778, rs1581997228, rs1588735247, rs1555980467, rs1555985742, rs1601319086, rs1601970168, rs1574451881, rs876661168, rs1576994053, rs1573589807, rs1581036396, rs1601267617, rs1572531830, rs1573483715, rs1590954686, rs1601315812, rs1573965358, rs1573972562, rs529087882, rs1570609440, rs1598940393, rs1575333081, rs1576028676, rs1596476657, rs1599375711, rs1603290366, rs1603060007, rs1603069440, rs1592939069, rs1591612223, rs2062994512, rs373701249, rs1600471396, rs1600501018, rs1600504088, rs1600514073, rs748436953, rs765723607, rs758170522, rs1561785045, rs1357591960, rs1591609136, rs1596891223, rs1579370234, rs2047850664, rs1579109565, rs1870202051, rs1574887674, rs778229060, rs1572531281, rs1570622663, rs1573501865, rs1576086299, rs1576164991, rs1574907198, rs1576656734, rs1554121438, rs1581995425, rs1581996813, rs1582001015, rs1588324025, rs1591371152, rs1590008294, rs1590956245, rs1590028691, rs1591606580, rs1591611001, rs1591612317, rs1591612370, rs763436882, rs997044541, rs1595897117, rs747706524, rs1579377990, rs1201878175, rs1894051550, rs1572531730, rs1579576029, rs1577017863, rs752545577, rs1582461267, rs1589460606, rs1588727276, rs1598620094, rs1599368323, rs1600082188, rs1601319352, rs1598226304, rs2076013475, rs2076017638, rs1600596180, rs1554121932, rs1680676671, rs1570607996, rs1382444181, rs1570640673, rs1574994308, rs1596667777, rs1602226289, rs1595629181, rs1595609005, rs1227643933, rs1572705473, rs1570621899, rs1722830922, rs1575094649, rs1417035592, rs1581997098, rs1589457762, rs1598211790, rs758726258, rs1601071971, rs863224922, rs1586692481, rs1586692548, rs1586692551, rs1580988074, rs1594129609, rs1588732344, rs1579368865, rs1586660389, rs1586660370, rs1586660338, rs1586657848, rs1586660381, rs1791701214, rs752676391, rs1680673822, rs758098717, rs1726676630, rs762288077, rs1759964009, rs1760905766, rs1761021165, rs1554121934, rs2055849544, rs1049773, rs587784300, rs1861628072, rs1761241410, rs1064797322, rs1948652423, rs2059194330, rs1777174302, rs2054280202, rs2081190512, rs772665884, rs1400164869, rs1861593395, rs1760897843, rs1761087122, rs1388355040, rs2068797192, rs1777175608, rs376898131	15557513, 18414909, 26633545, 28143899
Microcephaly	Microcephaly	rs397704721, rs267607176, rs267607177, rs397704725, rs267606717, rs267606718, rs199422202, rs121434311, rs199422203, rs199422126, rs387906274, rs121434305, rs199422125, rs199422135, rs189678019, rs199422184, rs137852994, rs137852995, rs137852996, rs137852997, rs145489194, rs80338860, rs137852494, rs121918609, rs199422207, rs199422206, rs29001566, rs864321658, rs199422138, rs199422139, rs199422141, rs199422144, rs199422147, rs199422151, rs199422152, rs199422153, rs199422157, rs199422159, rs199422160, rs199422161, rs140602858, rs199422164, rs199422165, rs148294838, rs199422134, rs199422168, rs199422172, rs199422173, rs199422131, rs199422177, rs199422180, rs199422185, rs199422186, rs199422187, rs143931757, rs199422189, rs199422192, rs199422194, rs199422195, rs199422196, rs199422197, rs199422199, rs753597039, rs1488084787, rs387906961, rs755862917, rs387907082, rs587776899, rs387907083, rs587776900, rs587776901, rs387907084, rs863223322, rs764201220, rs202247811, rs763915472, rs587776986, rs587777036, rs398122971, rs374351172, rs373278668, rs398122976, rs121909123, rs587783393, rs730882076, rs587783211, rs144716013, rs606231255, rs587783215, rs587783216, rs587783220, rs587783221, rs587783225, rs587783227, rs587783228, rs587783230, rs587783238, rs587783239, rs587783240, rs587783245, rs587783247, rs587783248, rs587783258, rs587783259, rs587783263, rs587783265, rs587783268, rs587783269, rs587783272, rs587783275, rs587783277, rs587783278, rs587783280, rs587783282, rs587783283, rs587783285, rs587783287, rs587783288, rs587783289, rs587783292, rs587783295, rs587784452, rs587783741, rs587783735, rs587783392, rs587783390, rs587783387, rs587783410, rs202058504, rs587783423, rs587783421, rs587783414, rs587784553, rs587784558, rs587784546, rs587784549, rs587784554, rs587784412, rs876661307, rs869025200, rs747831095, rs748529285, rs797045316, rs797045315, rs797045314, rs759632528, rs797045313, rs797045311, rs754282058, rs797045441, rs797045454, rs797045430, rs869312853, rs797046109, rs767399782, rs863225127, rs863225464, rs863225465, rs780270096, rs864321621, rs864321620, rs775277800, rs879253817, rs869312824, rs761447719, rs753406334, rs147622433, rs199422137, rs879255522, rs879255524, rs879255523, rs886037892, rs886037893, rs886037894, rs886037895, rs199422169, rs886041709, rs886041282, rs138228629, rs759188041, rs769688376, rs1057517688, rs1057519087, rs1057518268, rs933106143, rs201362977, rs754909135, rs1057520873, rs1060499758, rs1060499757, rs199422146, rs748016594, rs1085307120, rs763715733, rs1064795945, rs763800571, rs1554728351, rs1553227021, rs555866170, rs1553895368, rs1334947797, rs769818500, rs1321892596, rs1553227645, rs1404276011, rs1553228275, rs1554471681, rs1554496609, rs1555420891, rs1555418825, rs587784548, rs1555723585, rs199736219, rs745997770, rs765275884, rs1553924800, rs1554730137, rs1229568621, rs1482100822, rs979186313, rs758157294, rs1555294652, rs1555299107, rs1553264033, rs1553259539, rs1553254322, rs1553259528, rs981349334, rs1553264036, rs1553253022, rs754267846, rs776034810, rs1342429887, rs752140135, rs1006898944, rs571640983, rs1477524771, rs763909256, rs199910503, rs1553223496, rs759663956, rs1553446603, rs1555139372, rs1555143325, rs1350194762, rs1555141158, rs1553225179, rs769481947, rs769364943, rs748011724, rs1334301723, rs746341112, rs149225624, rs765113367, rs1567024512, rs142865061, rs772050241, rs201721894, rs1557966012, rs1379578836, rs1568334868, rs1185537869, rs1602333390, rs1163303148, rs774338373, rs770540184, rs1571600045, rs1571601267, rs1571602991, rs1588472215, rs1599841026, rs1558328287, rs1571600860, rs1571596976, rs1309880692, rs1435239428, rs1588634016, rs1751797979, rs1810830776, rs1815354949, rs1949984655, rs886039658, rs1943461045, rs777711720, rs2031759596, rs1555710223, rs1221031683, rs774069989, rs2058919680, rs1170413397, rs1213710245, rs1599851667, rs1599760058, rs1971033478, rs746967357
Multiple myeloma	Multiple Myeloma	rs11540652, rs78311289, rs121913482, rs397507340, rs121913343, rs121913240, rs121913529, rs730882018, rs1057517992, rs121913527, rs756183569, rs746646631, rs1574706907, rs372078034, rs745380962, rs751524927, rs1575079076, rs1575446356, rs1478603808, rs1578264146, rs1578673280, rs1579484570, rs1579491104, rs1171390403, rs1582867955, rs764264135, rs951047896, rs890521687, rs1581495906, rs1587941402, rs1003155450, rs1588299621, rs1591100766, rs1591693095, rs1029296641, rs1593107841, rs1208575764, rs1593835248, rs1594406727, rs1594966387, rs1595889508, rs1159294530, rs1597073318, rs1135402871, rs1599413207, rs1418268495, rs1212577459, rs1600394490, rs1455074519, rs1603113792, rs1603415028, rs1602247047, rs1603452612	26186254
Non-syndromic intellectual disability	Autosomal recessive non-syndromic intellectual disability	rs121918049, rs1135401819, rs1553638614, rs1561846159, rs1564493599, rs1563978827
Polymicrogyria	Polymicrogyria	rs1558010146, rs1558003446, rs1575508937
Retinitis pigmentosa and erythrocytic microcytosis	RETINITIS PIGMENTOSA AND ERYTHROCYTIC MICROCYTOSIS	rs876661298, rs876661299
Seizure	Generalized seizures	rs587784365, rs28939683, rs74315390, rs28939684, rs74315391, rs267607198, rs74315392, rs118192244, rs118192250, rs121917749, rs121917750, rs121917751, rs121917752, rs267606670, rs267607061, rs121912707, rs118192249, rs118192251, rs118192217, rs118192218, rs118192219, rs118192222, rs118192226, rs118192228, rs118192234, rs118192236, rs118192235, rs118192241, rs118192242, rs118192185, rs118192188, rs118192245, rs118192246, rs118192186, rs118192194, rs118192197, rs118192199, rs118192201, rs118192202, rs118192203, rs118192204, rs118192205, rs118192206, rs118192208, rs118192211, rs118192216, rs118192239, rs387906684, rs387906686, rs387906687, rs1596893185, rs387907126, rs387907281, rs397515405, rs587778771, rs730882067, rs730882073, rs397514579, rs397514582, rs587776976, rs398122394, rs121918784, rs121918751, rs121918735, rs398123588, rs587780450, rs61749751, rs587777620, rs727503974, rs730882124, rs794726710, rs794726697, rs794726799, rs794727444, rs794727740, rs796053166, rs794726825, rs796052676, rs796053219, rs796053220, rs796053228, rs796052653, rs759584387, rs796052650, rs796052641, rs796052626, rs796052623, rs796052663, rs796052615, rs796052802, rs797044999, rs797045047, rs797045942, rs797045941, rs118192212, rs797044938, rs777257591, rs864321712, rs879255652, rs886039268, rs886039517, rs886039529, rs199497486, rs886039496, rs886039903, rs886041300, rs769827124, rs886041339, rs886041591, rs587783092, rs1555850151, rs1057516123, rs1057516121, rs1057516115, rs1057516111, rs1057516106, rs1057516105, rs756921902, rs1057516089, rs1057516087, rs1057516080, rs1057516076, rs1060499544, rs1555850512, rs1057517919, rs118192231, rs1057520413, rs1060503101, rs1064796294, rs1064794981, rs1064794632, rs1064797245, rs1131691830, rs1131692231, rs1131691936, rs1554626549, rs1553579225, rs1553531385, rs121918736, rs1554898088, rs1553579282, rs763353895, rs1553463119, rs1554093891, rs77838305, rs1555408401, rs1554627439, rs1554097873, rs1555850403, rs1064794719, rs1315483224, rs1567134495, rs770187706, rs1057518555, rs1576983339, rs1574192005, rs1459374430, rs1586800133, rs1574641522, rs1572096837, rs1572630269, rs1574554892, rs1574556643, rs1574571769, rs1574641605, rs1574697769, rs1574716524, rs1574746733, rs1574746935, rs1574752700, rs1574754680, rs863225030, rs1601545088, rs1600714727, rs1371059392, rs1600767259, rs1339542565, rs1600785769, rs2065899210, rs1600732174, rs1162306056, rs879255709, rs1900111672, rs2066910297, rs1554122080, rs796052941, rs1600789325, rs2082695884, rs1737677036, rs1737495759, rs868389022, rs1737685202, rs1737672350, rs762737130

Unknown
Disease name	Disease term	dbSNP ID	References
Absence of septum pellucidum	Absence of septum pellucidum
Central visual impairment	Central visual impairment
Cerebral atrophy	Cerebral atrophy
Cortical dysplasia	Cortical Dysplasia
Drachtman weinblatt sitarz syndrome	Congenital neurologic anomalies		27751757
Dyskinetic syndrome	Dyskinetic syndrome
Dyssomnia	Dyssomnias
Hypoplasia of corpus callosum	Hypoplasia of corpus callosum
Mental depression	Depressive disorder	rs587778876, rs587778877
Motor delay	Clumsiness - motor delay
Salaam seizures	Salaam Seizures
Sleep disorders	Sleep Disorders
Stereotyped behavior	Stereotyped Behavior