KDM2B (lysine demethylase 2B)

Gene

• Entrez ID: 84678
• Gene name: Lysine demethylase 2B
• Gene symbol: KDM2B
• Synonyms (NCBI Gene): CXXC2, FBXL10, Fbl10, JHDM1B, PCCX2
• Chromosome: 12
• Chromosome location: 12q24.31
• Summary: This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), w

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs782304760	C>T	Likely-pathogenic	Missense variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT024040	hsa-miR-1-3p	Microarray	18668037
MIRT042973	hsa-miR-324-3p	CLASH	23622248
MIRT629261	hsa-miR-216a-5p	HITS-CLIP	23824327
MIRT631070	hsa-miR-5197-5p	HITS-CLIP	23824327
MIRT631069	hsa-miR-652-3p	HITS-CLIP	23824327
MIRT629260	hsa-miR-6890-3p	HITS-CLIP	23824327
MIRT629259	hsa-miR-6736-3p	HITS-CLIP	23824327
MIRT629258	hsa-miR-939-3p	HITS-CLIP	23824327
MIRT629257	hsa-miR-6852-5p	HITS-CLIP	23824327
MIRT629256	hsa-miR-6742-3p	HITS-CLIP	23824327
MIRT629255	hsa-miR-6774-3p	HITS-CLIP	23824327
MIRT629254	hsa-miR-1304-3p	HITS-CLIP	23824327
MIRT629253	hsa-miR-6787-3p	HITS-CLIP	23824327
MIRT629252	hsa-miR-3605-3p	HITS-CLIP	23824327
MIRT629251	hsa-miR-4772-3p	HITS-CLIP	23824327
MIRT631068	hsa-miR-6722-5p	HITS-CLIP	23824327
MIRT629250	hsa-miR-1343-3p	HITS-CLIP	23824327
MIRT629249	hsa-miR-6783-3p	HITS-CLIP	23824327
MIRT629261	hsa-miR-216a-5p	HITS-CLIP	23824327
MIRT629260	hsa-miR-6890-3p	HITS-CLIP	23824327
MIRT629259	hsa-miR-6736-3p	HITS-CLIP	23824327
MIRT629258	hsa-miR-939-3p	HITS-CLIP	23824327
MIRT629257	hsa-miR-6852-5p	HITS-CLIP	23824327
MIRT629256	hsa-miR-6742-3p	HITS-CLIP	23824327
MIRT629255	hsa-miR-6774-3p	HITS-CLIP	23824327
MIRT629254	hsa-miR-1304-3p	HITS-CLIP	23824327
MIRT629253	hsa-miR-6787-3p	HITS-CLIP	23824327
MIRT629252	hsa-miR-3605-3p	HITS-CLIP	23824327
MIRT629251	hsa-miR-4772-3p	HITS-CLIP	23824327
MIRT629250	hsa-miR-1343-3p	HITS-CLIP	23824327
MIRT629249	hsa-miR-6783-3p	HITS-CLIP	23824327
MIRT629261	hsa-miR-216a-5p	HITS-CLIP	23824327
MIRT631070	hsa-miR-5197-5p	HITS-CLIP	23824327
MIRT631069	hsa-miR-652-3p	HITS-CLIP	23824327
MIRT629260	hsa-miR-6890-3p	HITS-CLIP	23824327
MIRT629259	hsa-miR-6736-3p	HITS-CLIP	23824327
MIRT629258	hsa-miR-939-3p	HITS-CLIP	23824327
MIRT629257	hsa-miR-6852-5p	HITS-CLIP	23824327
MIRT629256	hsa-miR-6742-3p	HITS-CLIP	23824327
MIRT629255	hsa-miR-6774-3p	HITS-CLIP	23824327
MIRT629254	hsa-miR-1304-3p	HITS-CLIP	23824327
MIRT629253	hsa-miR-6787-3p	HITS-CLIP	23824327
MIRT629252	hsa-miR-3605-3p	HITS-CLIP	23824327
MIRT629251	hsa-miR-4772-3p	HITS-CLIP	23824327
MIRT631068	hsa-miR-6722-5p	HITS-CLIP	23824327
MIRT629250	hsa-miR-1343-3p	HITS-CLIP	23824327
MIRT629249	hsa-miR-6783-3p	HITS-CLIP	23824327
MIRT629261	hsa-miR-216a-5p	HITS-CLIP	23824327
MIRT629260	hsa-miR-6890-3p	HITS-CLIP	23824327
MIRT629259	hsa-miR-6736-3p	HITS-CLIP	23824327
MIRT629258	hsa-miR-939-3p	HITS-CLIP	23824327
MIRT629257	hsa-miR-6852-5p	HITS-CLIP	23824327
MIRT629256	hsa-miR-6742-3p	HITS-CLIP	23824327
MIRT629255	hsa-miR-6774-3p	HITS-CLIP	23824327
MIRT629254	hsa-miR-1304-3p	HITS-CLIP	23824327
MIRT629253	hsa-miR-6787-3p	HITS-CLIP	23824327
MIRT629252	hsa-miR-3605-3p	HITS-CLIP	23824327
MIRT629251	hsa-miR-4772-3p	HITS-CLIP	23824327
MIRT629250	hsa-miR-1343-3p	HITS-CLIP	23824327
MIRT629249	hsa-miR-6783-3p	HITS-CLIP	23824327
MIRT1084278	hsa-miR-1200	CLIP-seq
MIRT1084279	hsa-miR-1287	CLIP-seq
MIRT1084280	hsa-miR-130a	CLIP-seq
MIRT1084281	hsa-miR-130b	CLIP-seq
MIRT1084282	hsa-miR-1323	CLIP-seq
MIRT1084283	hsa-miR-139-5p	CLIP-seq
MIRT1084284	hsa-miR-148a	CLIP-seq
MIRT1084285	hsa-miR-148b	CLIP-seq
MIRT1084286	hsa-miR-152	CLIP-seq
MIRT1084287	hsa-miR-182	CLIP-seq
MIRT1084288	hsa-miR-198	CLIP-seq
MIRT1084289	hsa-miR-19a	CLIP-seq
MIRT1084290	hsa-miR-19b	CLIP-seq
MIRT1084291	hsa-miR-216a	CLIP-seq
MIRT1084292	hsa-miR-301a	CLIP-seq
MIRT1084293	hsa-miR-301b	CLIP-seq
MIRT1084294	hsa-miR-3125	CLIP-seq
MIRT1084295	hsa-miR-3135b	CLIP-seq
MIRT1084296	hsa-miR-3150a-5p	CLIP-seq
MIRT1084297	hsa-miR-3150b-5p	CLIP-seq
MIRT1084298	hsa-miR-3591-3p	CLIP-seq
MIRT1084299	hsa-miR-3609	CLIP-seq
MIRT1084300	hsa-miR-3616-5p	CLIP-seq
MIRT1084301	hsa-miR-3647-3p	CLIP-seq
MIRT1084302	hsa-miR-3647-5p	CLIP-seq
MIRT1084303	hsa-miR-3666	CLIP-seq
MIRT1084304	hsa-miR-371-5p	CLIP-seq
MIRT1084305	hsa-miR-371b-5p	CLIP-seq
MIRT1084306	hsa-miR-3916	CLIP-seq
MIRT1084307	hsa-miR-3929	CLIP-seq
MIRT1084308	hsa-miR-4295	CLIP-seq
MIRT1084309	hsa-miR-4324	CLIP-seq
MIRT1084310	hsa-miR-4419b	CLIP-seq
MIRT1084311	hsa-miR-4452	CLIP-seq
MIRT1084312	hsa-miR-4468	CLIP-seq
MIRT1084313	hsa-miR-4477b	CLIP-seq
MIRT1084314	hsa-miR-4478	CLIP-seq
MIRT1084315	hsa-miR-4496	CLIP-seq
MIRT1084316	hsa-miR-4519	CLIP-seq
MIRT1084317	hsa-miR-454	CLIP-seq
MIRT1084318	hsa-miR-4667-3p	CLIP-seq
MIRT1084319	hsa-miR-4671-5p	CLIP-seq
MIRT1084320	hsa-miR-4684-3p	CLIP-seq
MIRT1084321	hsa-miR-4684-5p	CLIP-seq
MIRT1084322	hsa-miR-4708-3p	CLIP-seq
MIRT1084323	hsa-miR-4768-5p	CLIP-seq
MIRT1084324	hsa-miR-4795-5p	CLIP-seq
MIRT1084325	hsa-miR-4797-5p	CLIP-seq
MIRT1084326	hsa-miR-518a-5p	CLIP-seq
MIRT1084327	hsa-miR-522	CLIP-seq
MIRT1084328	hsa-miR-527	CLIP-seq
MIRT1084329	hsa-miR-544b	CLIP-seq
MIRT1084330	hsa-miR-548ah	CLIP-seq
MIRT1084331	hsa-miR-548o	CLIP-seq
MIRT1084332	hsa-miR-548t	CLIP-seq
MIRT1084333	hsa-miR-573	CLIP-seq
MIRT1084334	hsa-miR-873	CLIP-seq
MIRT1084335	hsa-miR-935	CLIP-seq
MIRT1084284	hsa-miR-148a	CLIP-seq
MIRT1084285	hsa-miR-148b	CLIP-seq
MIRT1084286	hsa-miR-152	CLIP-seq
MIRT1084336	hsa-miR-183	CLIP-seq
MIRT1084337	hsa-miR-340	CLIP-seq
MIRT1084335	hsa-miR-935	CLIP-seq
MIRT2021395	hsa-miR-1285	CLIP-seq
MIRT1084282	hsa-miR-1323	CLIP-seq
MIRT1084284	hsa-miR-148a	CLIP-seq
MIRT1084285	hsa-miR-148b	CLIP-seq
MIRT1084286	hsa-miR-152	CLIP-seq
MIRT1084288	hsa-miR-198	CLIP-seq
MIRT2021396	hsa-miR-3187-5p	CLIP-seq
MIRT2021397	hsa-miR-326	CLIP-seq
MIRT2021398	hsa-miR-330-5p	CLIP-seq
MIRT2021399	hsa-miR-345	CLIP-seq
MIRT2021400	hsa-miR-378g	CLIP-seq
MIRT2021401	hsa-miR-4484	CLIP-seq
MIRT2021402	hsa-miR-4486	CLIP-seq
MIRT1084315	hsa-miR-4496	CLIP-seq
MIRT1084316	hsa-miR-4519	CLIP-seq
MIRT2021403	hsa-miR-4522	CLIP-seq
MIRT2021404	hsa-miR-4778-3p	CLIP-seq
MIRT1084327	hsa-miR-522	CLIP-seq
MIRT2021405	hsa-miR-548an	CLIP-seq
MIRT1084331	hsa-miR-548o	CLIP-seq
MIRT2021406	hsa-miR-550b	CLIP-seq
MIRT2021407	hsa-miR-578	CLIP-seq
MIRT2021408	hsa-miR-612	CLIP-seq
MIRT2021409	hsa-miR-643	CLIP-seq
MIRT1084335	hsa-miR-935	CLIP-seq
MIRT2252859	hsa-miR-1208	CLIP-seq
MIRT1084337	hsa-miR-340	CLIP-seq
MIRT1084298	hsa-miR-3591-3p	CLIP-seq
MIRT2252860	hsa-miR-3680	CLIP-seq
MIRT2252861	hsa-miR-4261	CLIP-seq
MIRT2021401	hsa-miR-4484	CLIP-seq
MIRT1084315	hsa-miR-4496	CLIP-seq
MIRT1084318	hsa-miR-4667-3p	CLIP-seq
MIRT2252862	hsa-miR-4729	CLIP-seq
MIRT1084327	hsa-miR-522	CLIP-seq
MIRT2021405	hsa-miR-548an	CLIP-seq
MIRT2021406	hsa-miR-550b	CLIP-seq
MIRT2252863	hsa-miR-568	CLIP-seq
MIRT2252864	hsa-miR-580	CLIP-seq
MIRT2389704	hsa-miR-300	CLIP-seq
MIRT2389705	hsa-miR-3065-5p	CLIP-seq
MIRT2389706	hsa-miR-381	CLIP-seq
MIRT2389707	hsa-miR-421	CLIP-seq
MIRT2389708	hsa-miR-4272	CLIP-seq
MIRT2389709	hsa-miR-4666-3p	CLIP-seq
MIRT2389710	hsa-miR-4789-5p	CLIP-seq
MIRT2389711	hsa-miR-548m	CLIP-seq
MIRT1084278	hsa-miR-1200	CLIP-seq
MIRT2252859	hsa-miR-1208	CLIP-seq
MIRT1084279	hsa-miR-1287	CLIP-seq
MIRT1084280	hsa-miR-130a	CLIP-seq
MIRT1084281	hsa-miR-130b	CLIP-seq
MIRT2555885	hsa-miR-185	CLIP-seq
MIRT1084289	hsa-miR-19a	CLIP-seq
MIRT1084290	hsa-miR-19b	CLIP-seq
MIRT2555886	hsa-miR-299-3p	CLIP-seq
MIRT1084292	hsa-miR-301a	CLIP-seq
MIRT1084293	hsa-miR-301b	CLIP-seq
MIRT1084295	hsa-miR-3135b	CLIP-seq
MIRT2555887	hsa-miR-3150b-3p	CLIP-seq
MIRT2555888	hsa-miR-335	CLIP-seq
MIRT1084303	hsa-miR-3666	CLIP-seq
MIRT2555889	hsa-miR-3670	CLIP-seq
MIRT2252860	hsa-miR-3680	CLIP-seq
MIRT2555890	hsa-miR-380	CLIP-seq
MIRT1084307	hsa-miR-3929	CLIP-seq
MIRT2555891	hsa-miR-4257	CLIP-seq
MIRT1084308	hsa-miR-4295	CLIP-seq
MIRT2555892	hsa-miR-4300	CLIP-seq
MIRT2555893	hsa-miR-4306	CLIP-seq
MIRT1084309	hsa-miR-4324	CLIP-seq
MIRT1084310	hsa-miR-4419b	CLIP-seq
MIRT1084312	hsa-miR-4468	CLIP-seq
MIRT1084314	hsa-miR-4478	CLIP-seq
MIRT2555894	hsa-miR-4491	CLIP-seq
MIRT2555895	hsa-miR-4495	CLIP-seq
MIRT1084317	hsa-miR-454	CLIP-seq
MIRT2555896	hsa-miR-4644	CLIP-seq
MIRT2555897	hsa-miR-4648	CLIP-seq
MIRT2555898	hsa-miR-4654	CLIP-seq
MIRT2555899	hsa-miR-4657	CLIP-seq
MIRT2252862	hsa-miR-4729	CLIP-seq
MIRT2555900	hsa-miR-4769-5p	CLIP-seq
MIRT2555901	hsa-miR-4784	CLIP-seq
MIRT1084326	hsa-miR-518a-5p	CLIP-seq
MIRT1084328	hsa-miR-527	CLIP-seq
MIRT1084329	hsa-miR-544b	CLIP-seq
MIRT2555902	hsa-miR-548p	CLIP-seq
MIRT2252863	hsa-miR-568	CLIP-seq
MIRT2555903	hsa-miR-920	CLIP-seq
MIRT1084288	hsa-miR-198	CLIP-seq
MIRT1084327	hsa-miR-522	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IEA
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	ISS
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IEA
GO:0003677	Function	DNA binding	IEA
GO:0003677	Function	DNA binding	NAS
GO:0003712	Function	Transcription coregulator activity	IBA
GO:0003723	Function	RNA binding	IEA
GO:0005515	Function	Protein binding	IPI	16943429, 24981860, 26496610, 27505670, 27705803, 33692209, 33961781
GO:0005634	Component	Nucleus	IDA	26237645
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	NAS
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005694	Component	Chromosome	IEA
GO:0005730	Component	Nucleolus	IEA
GO:0006325	Process	Chromatin organization	IEA
GO:0006338	Process	Chromatin remodeling	IBA
GO:0006338	Process	Chromatin remodeling	IDA	16943429
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0007283	Process	Spermatogenesis	IEA
GO:0007283	Process	Spermatogenesis	ISS
GO:0008270	Function	Zinc ion binding	IDA	29276034
GO:0008270	Function	Zinc ion binding	IEA
GO:0016491	Function	Oxidoreductase activity	IEA
GO:0019843	Function	RRNA binding	IEA
GO:0021555	Process	Midbrain-hindbrain boundary morphogenesis	IEA
GO:0021555	Process	Midbrain-hindbrain boundary morphogenesis	ISS
GO:0021592	Process	Fourth ventricle development	IEA
GO:0021592	Process	Fourth ventricle development	ISS
GO:0021670	Process	Lateral ventricle development	IEA
GO:0021670	Process	Lateral ventricle development	ISS
GO:0021678	Process	Third ventricle development	IEA
GO:0021678	Process	Third ventricle development	ISS
GO:0021993	Process	Initiation of neural tube closure	IEA
GO:0021993	Process	Initiation of neural tube closure	ISS
GO:0030307	Process	Positive regulation of cell growth	IEA
GO:0030900	Process	Forebrain development	IEA
GO:0030900	Process	Forebrain development	ISS
GO:0030901	Process	Midbrain development	IEA
GO:0030901	Process	Midbrain development	ISS
GO:0030902	Process	Hindbrain development	IEA
GO:0030902	Process	Hindbrain development	ISS
GO:0031519	Component	PcG protein complex	IDA	16943429
GO:0032452	Function	Histone demethylase activity	IBA
GO:0032452	Function	Histone demethylase activity	TAS	21220025
GO:0043524	Process	Negative regulation of neuron apoptotic process	IEA
GO:0043524	Process	Negative regulation of neuron apoptotic process	ISS
GO:0045322	Function	Unmethylated CpG binding	IDA	29276034
GO:0045322	Function	Unmethylated CpG binding	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0048596	Process	Embryonic camera-type eye morphogenesis	IEA
GO:0048596	Process	Embryonic camera-type eye morphogenesis	ISS
GO:0051213	Function	Dioxygenase activity	IEA
GO:0051864	Function	Histone H3K36 demethylase activity	IDA	26237645
GO:0051864	Function	Histone H3K36 demethylase activity	IEA
GO:0140680	Function	Histone H3K36me/H3K36me2 demethylase activity	IEA
GO:1902459	Process	Positive regulation of stem cell population maintenance	IEA
GO:2000178	Process	Negative regulation of neural precursor cell proliferation	IEA
GO:2000178	Process	Negative regulation of neural precursor cell proliferation	ISS

Other IDs

• MIM: 609078
• HGNC: 13610
• e!Ensembl: ENSG00000089094

Protein

• UniProt ID: Q8NHM5
• Protein name: Lysine-specific demethylase 2B (EC 1.14.11.27) (CXXC-type zinc finger protein 2) (F-box and leucine-rich repeat protein 10) (F-box protein FBL10) (F-box/LRR-repeat protein 10) (JmjC domain-containing histone demethylation protein 1B) (Jumonji domain-conta
• Protein function: Histone demethylase that demethylates 'Lys-4' and 'Lys-36' of histone H3, thereby playing a central role in histone code (PubMed:16362057, PubMed:17994099, PubMed:26237645). Preferentially demethylates trimethylated H3 'Lys-4' and dimethylated H
• PDB: 4O64, 5JH5, 6BVA, 8HCU
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF13621	Cupin_8	23 → 336	Cupin-like domain	Domain
  PF17811	JHD	333 → 418	Jumonji helical domain	Domain
  PF02008	zf-CXXC	605 → 651	CXXC zinc finger domain	Domain
  PF16866	PHD_4	656 → 723	PHD-finger	Domain
  PF00646	F-box	1050 → 1107	F-box domain	Domain

• Sequence:

  MAGPQMGGSAEDHPPRKRHAAEKQKKKTVIYTKCFEFESATQRPIDRQRYDENEDLSDVE
  EIVSVRGFSLEEKLRSQLYQGDFVHAMEGKDFNYEYVQREALRVPLIFREKDGLGIKMPD
  PDFTVRDVKLLVGSRRLVDVMDVNTQKGTEMSMSQFVRYYETPEAQRDKLYNVISLEFSH
  TKLEHLVKRPTVVDLVDWVDNMWPQHLKEKQTEATNAIAEMKYPKVKKYCLMSVKGCFTD
  FHIDFGGTSVWYHVFRGGKIFWLIPPTLHNLALYEEWVLSGKQSDIFLGDRVERCQRIEL
  KQGYTFFIPSGWIHAVYTPVDSLVFGGNILHSFNVPMQLRIYEIEDRTRVQPKFRYPFYY
  EMCWYVLERYVYCVTQRSHLTQEYQRESMLIDAPRKPSIDGFSSDSWLEMEEEACDQQPQ
  EEEEKDEEGEGRDRAPKPPTDGSTSPTSTPSEDQEALGKKPKAPALRFLKRTLSNESEES
  VKSTTLAVDYPKTPTGSPATEVSAKWTHLTEFELKGLKALVEKLESLPENKKCVPEGIED
  PQALLEGVKNVLKEHADDDPSLAITGVPVVTWPKKTPKNRAVGRPKGKLGPASAVKLAAN
  RTTAGARRRRTRCRKCEACLRTECGECHFCKDMKKFGGPGRMKQSCIMRQCIAPVLPHTA
  VCLVCGEAGKEDTVEEEEGKFNLMLMECSICNEIIHPGCLKIKESEGVVNDELPNCWECP
  KCNHAGKTGKQKRGPGFKYASNLPGSLLKEQKMNRDNKEGQEPAKRRSECEEAPRRRSDE
  HSKKVPPDGLLRRKSDDVHLRKKRKYEKPQELSGRKRASSLQTSPGSSSHLSPRPPLGSS
  LSPWWRSSLTYFQQQLKPGKEDKLFRKKRRSWKNAEDRMALANKPLRRFKQEPEDELPEA
  PPKTRESDHSRSSSPTAGPSTEGAEGPEEKKKVKMRRKRRLPNKELSRELSKELNHEIQR
  TENSLANENQQPIKSEPESEGEEPKRPPGICERPHRFSKGLNGTPRELRHQLGPSLRSPP
  RVISRPPPSVSPPKCIQMERHVIRPPPISPPPDSLPLDDGAAHVMHREVWMAVFSYLSHQ
  DLCVCMRVCRTWNRWCCDKRLWTRIDLNHCKSITPLMLSGIIRRQPVSLDLSWTNISKKQ
  LSWLINRLPGLRDLVLSGCSWIAVSALCSSSCPLLRTLDVQWVEGLKDAQMRDLLSPPTD
  NRPGQMDNRSKLRNIVELRLAGLDITDASLRLIIRHMPLLSKLHLSYCNHVTDQSINLLT
  AVGTTTRDSLTEINLSDCNKVTDQCLSFFKRCGNICHIDLRYCKQVTKEGCEQFIAEMSV
  SVQFGQVEEKLLQKLS

• Sequence length: 1336

Pathways

KEGG:

Polycomb repressive complex

Reactome:

HDMs demethylate histones

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
KDM2B-related disorder	Likely pathogenic	rs2502086109, rs2500838817	RCV004554910 RCV004555115	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
KDM2B-related syndrome	Likely pathogenic; Pathogenic	rs1555292064	RCV005242565	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOVASCULAR DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Global developmental delay	Likely benign	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
HYPERTENSION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypotonia	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Infantile spasms	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KDM2B Gene Mutation	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microcephaly	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RESPIRATORY SYSTEM DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEVERE COMBINED IMMUNODEFICIENCY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Severe combined immunodeficiency disease	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SLEEP APNEA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenocarcinoma	Adenocarcinoma	BEFREE	24853546		★☆☆☆☆ Found in Text Mining only
Adult Diffuse Large B-Cell Lymphoma	B-cell Lymphoma	BEFREE	29352142		★☆☆☆☆ Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	23321669		★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	28515962		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	24853546, 25273595		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	24853546, 30060056	Associate	★☆☆☆☆ Found in Text Mining only
Burkitt Lymphoma	Burkitt lymphoma	Pubtator	30996097	Associate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	26725323	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	28515962, 29335520		★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	28515962		★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	34783291	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	28706445, 30409964		★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Familial Idiopathic	Cardiomyopathy	BEFREE	30701683		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	GWASCAT_DG	30595370		★☆☆☆☆ Found in Text Mining only
CHARGE Syndrome	CHARGE Syndrome	BEFREE	23920116		★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	BEFREE	31197256		★☆☆☆☆ Found in Text Mining only
Coloboma of the Retina	Retinal coloboma	BEFREE	21220025		★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	31531877		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic Neoplasms	BEFREE	29772566		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	29772566, 32175798	Associate	★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	28714028		★☆☆☆☆ Found in Text Mining only
Diffuse Large B-Cell Lymphoma	Diffuse Lymphoma	BEFREE	29352142		★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down syndrome	Pubtator	25701644	Associate	★☆☆☆☆ Found in Text Mining only
Exencephaly	Anencephaly	BEFREE	21220025		★☆☆☆☆ Found in Text Mining only
Fundus coloboma	Fundus Coloboma	BEFREE	21220025		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	28661478, 29360266	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	29360266		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	29360266		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	29360266	Associate	★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	29386904		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	CLINVAR_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Hematological Disease	Hematological Disease	BEFREE	30996097		★☆☆☆☆ Found in Text Mining only
Hematopoietic Neoplasms	Hematopoietic Neoplasms	BEFREE	26808549		★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin disease	Pubtator	34807923	Associate	★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	34987319	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Infantile Spasm	Infantile Spasms	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	27106595		★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	BEFREE	28202285		★☆☆☆☆ Found in Text Mining only
Kidney Neoplasms	Kidney neoplasm	Pubtator	32628469	Associate	★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	21310926, 26808549		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	21310926		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	33779563	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoid leukemia	Lymphoid leukemia	BEFREE	26808549		★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	30996097		★☆☆☆☆ Found in Text Mining only
Malignant Childhood Neoplasm	Malignant Neoplasm	BEFREE	30996097		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	24853546, 25273595		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	28706445, 30409964		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	23321669		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	26989077		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	28515962		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	24853546, 28515962, 30210666, 30470836, 31218831		★☆☆☆☆ Found in Text Mining only
Malignant Peripheral Nerve Sheath Tumor	Malignant Peripheral Nerve Sheath Tumor	BEFREE	28124441		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	31531877		★☆☆☆☆ Found in Text Mining only
Mild cognitive disorder	Cognitive disorder	BEFREE	25731621		★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	BEFREE	25225797		★☆☆☆☆ Found in Text Mining only
Myelodysplastic Syndromes	Myelodysplastic syndrome	Pubtator	25225797	Associate	★☆☆☆☆ Found in Text Mining only
Nasal Polyps	Nasal polyposis	BEFREE	31041569		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	24955145, 25273595, 28506929, 28661478, 29352142, 29408056, 30233643, 31471323		★☆☆☆☆ Found in Text Mining only
Neural Tube Defects	Neural Tube Defect	BEFREE	21220025		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	30629659		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	31218831		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	28706445, 30409964		★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	23321669		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	29408056, 29772566, 32175798	Associate	★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	Pubtator	37634866	Associate	★☆☆☆☆ Found in Text Mining only
Sarcoma Synovial	Synovial sarcoma	Pubtator	29502955, 37634866	Associate	★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	CTD_human_DG	21743468		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sepsis	Sepsis	Pubtator	37773725	Associate	★☆☆☆☆ Found in Text Mining only
Sleep Apnea Obstructive	Sleep apnea	Pubtator	34987319	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	29335520		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	26989077		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	37033161	Associate	★☆☆☆☆ Found in Text Mining only
synovial sarcoma	Synovial sarcoma	BEFREE	29502955		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	24853546, 30060056		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	24853546, 30060056	Associate	★☆☆☆☆ Found in Text Mining only