EIF2B2 (eukaryotic translation initiation factor 2B subunit beta)

Gene

• Entrez ID: 8892
• Gene name: Eukaryotic translation initiation factor 2B subunit beta
• Gene symbol: EIF2B2
• Synonyms (NCBI Gene): EIF-2Bbeta, EIF2B, EIF2Bbeta, VWM2
• Chromosome: 14
• Chromosome location: 14q24.3
• Summary: This gene encodes the beta subunit of eukaryotic initiation factor-2B (EIF2B). EIF2B is involved in protein synthesis and exchanges GDP and GTP for its activation and deactivation. [provided by RefSeq, Aug 2011]

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs104894425	A>G	Pathogenic	Missense variant, coding sequence variant
rs104894426	T>A	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs104894427	C>T	Pathogenic	Stop gained, coding sequence variant
rs104894428	C>A,T	Pathogenic	Missense variant, coding sequence variant
rs113994012	G>C,T	Pathogenic-likely-pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs113994014	ATGGCT>TG	Pathogenic	Coding sequence variant, frameshift variant
rs113994016	A>G	Pathogenic	Missense variant, coding sequence variant
rs372548739	G>A,C	Pathogenic	Coding sequence variant, missense variant
rs397514648	T>A	Pathogenic	Coding sequence variant, missense variant
rs758398310	C>T	Pathogenic, uncertain-significance	Stop gained, coding sequence variant
rs761055346	G>A,T	Likely-pathogenic	Missense variant, coding sequence variant
rs767933078	G>T	Pathogenic	Initiator codon variant, missense variant
rs1131691872	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1595009164	C>G	Likely-pathogenic	Missense variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT020527	hsa-miR-155-5p	Proteomics	18668040
MIRT031428	hsa-miR-16-5p	Proteomics	18668040
MIRT049061	hsa-miR-92a-3p	CLASH	23622248
MIRT040533	hsa-miR-92b-3p	CLASH	23622248
MIRT037833	hsa-miR-455-3p	CLASH	23622248
MIRT280209	hsa-miR-106a-5p	HITS-CLIP	23313552
MIRT280210	hsa-miR-106b-5p	HITS-CLIP	23313552
MIRT280206	hsa-miR-17-5p	HITS-CLIP	23313552
MIRT280207	hsa-miR-20a-5p	HITS-CLIP	23313552
MIRT280211	hsa-miR-20b-5p	HITS-CLIP	23313552
MIRT280213	hsa-miR-519d-3p	HITS-CLIP	23313552
MIRT280212	hsa-miR-526b-3p	HITS-CLIP	23313552
MIRT280208	hsa-miR-93-5p	HITS-CLIP	23313552
MIRT695986	hsa-miR-302a-3p	HITS-CLIP	23313552
MIRT695985	hsa-miR-302b-3p	HITS-CLIP	23313552
MIRT695984	hsa-miR-302c-3p	HITS-CLIP	23313552
MIRT695983	hsa-miR-302d-3p	HITS-CLIP	23313552
MIRT695982	hsa-miR-302e	HITS-CLIP	23313552
MIRT695981	hsa-miR-372-3p	HITS-CLIP	23313552
MIRT695980	hsa-miR-373-3p	HITS-CLIP	23313552
MIRT695979	hsa-miR-520a-3p	HITS-CLIP	23313552
MIRT695978	hsa-miR-520b	HITS-CLIP	23313552
MIRT695977	hsa-miR-520c-3p	HITS-CLIP	23313552
MIRT695976	hsa-miR-520d-3p	HITS-CLIP	23313552
MIRT695975	hsa-miR-520e	HITS-CLIP	23313552
MIRT695974	hsa-miR-512-3p	HITS-CLIP	23313552
MIRT695973	hsa-miR-520g-3p	HITS-CLIP	23313552
MIRT695972	hsa-miR-520h	HITS-CLIP	23313552
MIRT695971	hsa-miR-186-3p	HITS-CLIP	23313552
MIRT664687	hsa-miR-4667-3p	HITS-CLIP	23313552
MIRT664686	hsa-miR-5193	HITS-CLIP	23313552
MIRT695970	hsa-miR-150-5p	HITS-CLIP	23313552
MIRT664684	hsa-miR-1913	HITS-CLIP	23313552
MIRT664683	hsa-miR-324-3p	HITS-CLIP	23313552
MIRT695969	hsa-miR-18a-3p	HITS-CLIP	23313552
MIRT695968	hsa-miR-619-5p	HITS-CLIP	23313552
MIRT695967	hsa-miR-6506-5p	HITS-CLIP	23313552
MIRT695966	hsa-miR-4290	HITS-CLIP	23313552
MIRT695965	hsa-miR-6778-3p	HITS-CLIP	23313552
MIRT695964	hsa-miR-4731-5p	HITS-CLIP	23313552
MIRT695963	hsa-miR-5589-5p	HITS-CLIP	23313552
MIRT695962	hsa-miR-5089-5p	HITS-CLIP	23313552
MIRT664689	hsa-miR-1245a	HITS-CLIP	23824327
MIRT664688	hsa-miR-8079	HITS-CLIP	23824327
MIRT664687	hsa-miR-4667-3p	HITS-CLIP	23824327
MIRT664686	hsa-miR-5193	HITS-CLIP	23824327
MIRT664685	hsa-miR-3653-5p	HITS-CLIP	23824327
MIRT664684	hsa-miR-1913	HITS-CLIP	23824327
MIRT664683	hsa-miR-324-3p	HITS-CLIP	23824327
MIRT664682	hsa-miR-6790-3p	HITS-CLIP	23824327
MIRT664681	hsa-miR-6821-3p	HITS-CLIP	23824327
MIRT664680	hsa-miR-378a-5p	HITS-CLIP	23824327
MIRT658797	hsa-miR-3184-3p	HITS-CLIP	23824327
MIRT658796	hsa-miR-15a-5p	HITS-CLIP	23824327
MIRT658795	hsa-miR-15b-5p	HITS-CLIP	23824327
MIRT031428	hsa-miR-16-5p	HITS-CLIP	23824327
MIRT658794	hsa-miR-195-5p	HITS-CLIP	23824327
MIRT658793	hsa-miR-424-5p	HITS-CLIP	23824327
MIRT658792	hsa-miR-497-5p	HITS-CLIP	23824327
MIRT658791	hsa-miR-6838-5p	HITS-CLIP	23824327
MIRT658790	hsa-miR-4686	HITS-CLIP	23824327
MIRT658789	hsa-miR-4778-5p	HITS-CLIP	23824327
MIRT658788	hsa-miR-877-3p	HITS-CLIP	23824327
MIRT658787	hsa-miR-6515-3p	HITS-CLIP	23824327
MIRT658786	hsa-miR-4742-3p	HITS-CLIP	23824327
MIRT658785	hsa-miR-1298-5p	HITS-CLIP	23824327
MIRT658784	hsa-miR-6881-3p	HITS-CLIP	23824327
MIRT658783	hsa-miR-4279	HITS-CLIP	23824327
MIRT658782	hsa-miR-3686	HITS-CLIP	23824327
MIRT280209	hsa-miR-106a-5p	HITS-CLIP	23313552
MIRT280210	hsa-miR-106b-5p	HITS-CLIP	23313552
MIRT280206	hsa-miR-17-5p	HITS-CLIP	23313552
MIRT280207	hsa-miR-20a-5p	HITS-CLIP	23313552
MIRT280211	hsa-miR-20b-5p	HITS-CLIP	23313552
MIRT280213	hsa-miR-519d-3p	HITS-CLIP	23313552
MIRT280212	hsa-miR-526b-3p	HITS-CLIP	23313552
MIRT280208	hsa-miR-93-5p	HITS-CLIP	23313552
MIRT695986	hsa-miR-302a-3p	HITS-CLIP	23313552
MIRT695985	hsa-miR-302b-3p	HITS-CLIP	23313552
MIRT695984	hsa-miR-302c-3p	HITS-CLIP	23313552
MIRT695983	hsa-miR-302d-3p	HITS-CLIP	23313552
MIRT695982	hsa-miR-302e	HITS-CLIP	23313552
MIRT695981	hsa-miR-372-3p	HITS-CLIP	23313552
MIRT695980	hsa-miR-373-3p	HITS-CLIP	23313552
MIRT695979	hsa-miR-520a-3p	HITS-CLIP	23313552
MIRT695978	hsa-miR-520b	HITS-CLIP	23313552
MIRT695977	hsa-miR-520c-3p	HITS-CLIP	23313552
MIRT695976	hsa-miR-520d-3p	HITS-CLIP	23313552
MIRT695975	hsa-miR-520e	HITS-CLIP	23313552
MIRT695974	hsa-miR-512-3p	HITS-CLIP	23313552
MIRT695973	hsa-miR-520g-3p	HITS-CLIP	23313552
MIRT695972	hsa-miR-520h	HITS-CLIP	23313552
MIRT695971	hsa-miR-186-3p	HITS-CLIP	23313552
MIRT664687	hsa-miR-4667-3p	HITS-CLIP	23313552
MIRT664686	hsa-miR-5193	HITS-CLIP	23313552
MIRT695970	hsa-miR-150-5p	HITS-CLIP	23313552
MIRT664684	hsa-miR-1913	HITS-CLIP	23313552
MIRT664683	hsa-miR-324-3p	HITS-CLIP	23313552
MIRT695969	hsa-miR-18a-3p	HITS-CLIP	23313552
MIRT695968	hsa-miR-619-5p	HITS-CLIP	23313552
MIRT695967	hsa-miR-6506-5p	HITS-CLIP	23313552
MIRT695966	hsa-miR-4290	HITS-CLIP	23313552
MIRT695965	hsa-miR-6778-3p	HITS-CLIP	23313552
MIRT695964	hsa-miR-4731-5p	HITS-CLIP	23313552
MIRT695963	hsa-miR-5589-5p	HITS-CLIP	23313552
MIRT695962	hsa-miR-5089-5p	HITS-CLIP	23313552
MIRT664689	hsa-miR-1245a	HITS-CLIP	23824327
MIRT664688	hsa-miR-8079	HITS-CLIP	23824327
MIRT664687	hsa-miR-4667-3p	HITS-CLIP	23824327
MIRT664686	hsa-miR-5193	HITS-CLIP	23824327
MIRT664685	hsa-miR-3653-5p	HITS-CLIP	23824327
MIRT664684	hsa-miR-1913	HITS-CLIP	23824327
MIRT664683	hsa-miR-324-3p	HITS-CLIP	23824327
MIRT664682	hsa-miR-6790-3p	HITS-CLIP	23824327
MIRT664681	hsa-miR-6821-3p	HITS-CLIP	23824327
MIRT664680	hsa-miR-378a-5p	HITS-CLIP	23824327
MIRT658797	hsa-miR-3184-3p	HITS-CLIP	23824327
MIRT658796	hsa-miR-15a-5p	HITS-CLIP	23824327
MIRT658795	hsa-miR-15b-5p	HITS-CLIP	23824327
MIRT031428	hsa-miR-16-5p	HITS-CLIP	23824327
MIRT658794	hsa-miR-195-5p	HITS-CLIP	23824327
MIRT658793	hsa-miR-424-5p	HITS-CLIP	23824327
MIRT658792	hsa-miR-497-5p	HITS-CLIP	23824327
MIRT658791	hsa-miR-6838-5p	HITS-CLIP	23824327
MIRT658790	hsa-miR-4686	HITS-CLIP	23824327
MIRT658789	hsa-miR-4778-5p	HITS-CLIP	23824327
MIRT658788	hsa-miR-877-3p	HITS-CLIP	23824327
MIRT658787	hsa-miR-6515-3p	HITS-CLIP	23824327
MIRT658786	hsa-miR-4742-3p	HITS-CLIP	23824327
MIRT658785	hsa-miR-1298-5p	HITS-CLIP	23824327
MIRT658784	hsa-miR-6881-3p	HITS-CLIP	23824327
MIRT658783	hsa-miR-4279	HITS-CLIP	23824327
MIRT658782	hsa-miR-3686	HITS-CLIP	23824327
MIRT956734	hsa-miR-1200	CLIP-seq
MIRT956735	hsa-miR-561	CLIP-seq
MIRT956736	hsa-miR-642b	CLIP-seq
MIRT1983328	hsa-miR-1910	CLIP-seq
MIRT1983329	hsa-miR-2467-5p	CLIP-seq
MIRT1983330	hsa-miR-3065-5p	CLIP-seq
MIRT1983331	hsa-miR-31	CLIP-seq
MIRT1983332	hsa-miR-3156-5p	CLIP-seq
MIRT1983333	hsa-miR-4696	CLIP-seq
MIRT1983334	hsa-miR-4766-5p	CLIP-seq
MIRT1983335	hsa-miR-488	CLIP-seq
MIRT1983336	hsa-miR-548an	CLIP-seq
MIRT956736	hsa-miR-642b	CLIP-seq
MIRT2218535	hsa-miR-1265	CLIP-seq
MIRT2218536	hsa-miR-144	CLIP-seq
MIRT2218537	hsa-miR-15a	CLIP-seq
MIRT2218538	hsa-miR-15b	CLIP-seq
MIRT2218539	hsa-miR-16	CLIP-seq
MIRT2218540	hsa-miR-195	CLIP-seq
MIRT2218541	hsa-miR-214	CLIP-seq
MIRT2218542	hsa-miR-218	CLIP-seq
MIRT1983329	hsa-miR-2467-5p	CLIP-seq
MIRT2218543	hsa-miR-3619-5p	CLIP-seq
MIRT2218544	hsa-miR-3977	CLIP-seq
MIRT2218545	hsa-miR-424	CLIP-seq
MIRT2218546	hsa-miR-4291	CLIP-seq
MIRT2218547	hsa-miR-4764-5p	CLIP-seq
MIRT2218548	hsa-miR-497	CLIP-seq
MIRT2218549	hsa-miR-636	CLIP-seq
MIRT956736	hsa-miR-642b	CLIP-seq
MIRT2218550	hsa-miR-761	CLIP-seq
MIRT2218551	hsa-miR-922	CLIP-seq
MIRT1983329	hsa-miR-2467-5p	CLIP-seq
MIRT1983330	hsa-miR-3065-5p	CLIP-seq
MIRT956736	hsa-miR-642b	CLIP-seq
MIRT1983328	hsa-miR-1910	CLIP-seq
MIRT1983329	hsa-miR-2467-5p	CLIP-seq
MIRT1983330	hsa-miR-3065-5p	CLIP-seq
MIRT1983331	hsa-miR-31	CLIP-seq
MIRT1983332	hsa-miR-3156-5p	CLIP-seq
MIRT2522005	hsa-miR-3173-5p	CLIP-seq
MIRT2522006	hsa-miR-3194-3p	CLIP-seq
MIRT2522007	hsa-miR-3690	CLIP-seq
MIRT2522008	hsa-miR-370	CLIP-seq
MIRT2522009	hsa-miR-3714	CLIP-seq
MIRT2522010	hsa-miR-4254	CLIP-seq
MIRT1983333	hsa-miR-4696	CLIP-seq
MIRT2522011	hsa-miR-4709-5p	CLIP-seq
MIRT2522012	hsa-miR-4742-5p	CLIP-seq
MIRT2218547	hsa-miR-4764-5p	CLIP-seq
MIRT1983334	hsa-miR-4766-5p	CLIP-seq
MIRT1983335	hsa-miR-488	CLIP-seq
MIRT1983336	hsa-miR-548an	CLIP-seq
MIRT956736	hsa-miR-642b	CLIP-seq
MIRT2522013	hsa-miR-938	CLIP-seq
MIRT2522014	hsa-miR-940	CLIP-seq
MIRT1983328	hsa-miR-1910	CLIP-seq
MIRT1983329	hsa-miR-2467-5p	CLIP-seq
MIRT1983330	hsa-miR-3065-5p	CLIP-seq
MIRT1983331	hsa-miR-31	CLIP-seq
MIRT1983332	hsa-miR-3156-5p	CLIP-seq
MIRT2522005	hsa-miR-3173-5p	CLIP-seq
MIRT2522006	hsa-miR-3194-3p	CLIP-seq
MIRT2522007	hsa-miR-3690	CLIP-seq
MIRT2522008	hsa-miR-370	CLIP-seq
MIRT2522009	hsa-miR-3714	CLIP-seq
MIRT2522010	hsa-miR-4254	CLIP-seq
MIRT1983333	hsa-miR-4696	CLIP-seq
MIRT2522012	hsa-miR-4742-5p	CLIP-seq
MIRT2218547	hsa-miR-4764-5p	CLIP-seq
MIRT1983334	hsa-miR-4766-5p	CLIP-seq
MIRT1983335	hsa-miR-488	CLIP-seq
MIRT1983336	hsa-miR-548an	CLIP-seq
MIRT956736	hsa-miR-642b	CLIP-seq
MIRT2522013	hsa-miR-938	CLIP-seq
MIRT2522014	hsa-miR-940	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001541	Process	Ovarian follicle development	IMP	15507143
GO:0002183	Process	Cytoplasmic translational initiation	IDA	27023709
GO:0003743	Function	Translation initiation factor activity	IDA	16289705
GO:0003743	Function	Translation initiation factor activity	IEA
GO:0005085	Function	Guanyl-nucleotide exchange factor activity	IBA
GO:0005085	Function	Guanyl-nucleotide exchange factor activity	IDA	11323413
GO:0005085	Function	Guanyl-nucleotide exchange factor activity	IDA	25858979, 27023709
GO:0005085	Function	Guanyl-nucleotide exchange factor activity	IMP	15054402
GO:0005515	Function	Protein binding	IPI	15060152, 21516116, 25910212, 31515488, 32296183, 33961781
GO:0005524	Function	ATP binding	IDA	11323413
GO:0005525	Function	GTP binding	IDA	11323413
GO:0005737	Component	Cytoplasm	IDA	11323413
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005851	Component	Eukaryotic translation initiation factor 2B complex	IBA
GO:0005851	Component	Eukaryotic translation initiation factor 2B complex	IDA	11323413, 15060152, 27023709
GO:0005851	Component	Eukaryotic translation initiation factor 2B complex	IEA
GO:0006412	Process	Translation	IEA
GO:0006413	Process	Translational initiation	IBA
GO:0006413	Process	Translational initiation	IDA	16289705
GO:0006413	Process	Translational initiation	IEA
GO:0006446	Process	Regulation of translational initiation	TAS	15060152
GO:0007417	Process	Central nervous system development	IEA
GO:0007417	Process	Central nervous system development	IMP	15776425
GO:0009408	Process	Response to heat	ISS
GO:0009408	Process	Response to heat	TAS	12499492
GO:0009749	Process	Response to glucose	ISS
GO:0014003	Process	Oligodendrocyte development	IMP	15217090
GO:0042552	Process	Myelination	IMP	14566705
GO:0043434	Process	Response to peptide hormone	ISS
GO:0048513	Process	Animal organ development	IEA
GO:0050852	Process	T cell receptor signaling pathway	IDA	8626696

Other IDs

• MIM: 606454
• HGNC: 3258
• e!Ensembl: ENSG00000119718

Protein

• UniProt ID: P49770
• Protein name: Translation initiation factor eIF2B subunit beta (S20I15) (S20III15) (eIF2B GDP-GTP exchange factor subunit beta)
• Protein function: Acts as a component of the translation initiation factor 2B (eIF2B) complex, which catalyzes the exchange of GDP for GTP on eukaryotic initiation factor 2 (eIF2) gamma subunit (PubMed:25858979, PubMed:27023709, PubMed:31048492). Its guanine nucl
• PDB: 6CAJ, 6EZO, 6K71, 6K72, 6O81, 6O85, 6O9Z, 7D43, 7D44, 7D45, 7D46, 7F64, 7F66, 7F67, 7KMF, 7L70, 7L7G, 7RLO, 7TRJ, 7VLK, 8TQO, 8TQZ
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01008	IF-2B	27 → 333	Initiation factor 2 subunit family	Family

• Sequence:

  MPGSAAKGSELSERIESFVETLKRGGGPRSSEEMARETLGLLRQIITDHRWSNAGELMEL
  IRREGRRMTAAQPSETTVGNMVRRVLKIIREEYGRLHGRSDESDQQESLHKLLTSGGLNE
  DFSFHYAQLQSNIIEAINELLVELEGTMENIAAQALEHIHSNEVIMTIGFSRTVEAFLKE
  AARKRKFHVIVAECAPFCQGHEMAVNLSKAGIETTVMTDAAIFAVMSRVNKVIIGTKTIL
  ANGALRAVTGTHTLALAAKHHSTPLIVCAPMFKLSPQFPNEEDSFHKFVAPEEVLPFTEG
  DILEKVSVHCPVFDYVPPELITLFISNIGGNAPSYIYRLMSELYHPDDHVL

• Sequence length: 351

Pathways

KEGG:

Herpes simplex virus 1 infection

Reactome:

Recycling of eIF2:GDP

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
Abnormality of the nervous system	Likely pathogenic; Pathogenic	rs397514648, rs372548739	RCV001814020 RCV001814200	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Clear cell carcinoma of kidney	Likely pathogenic	rs373906805	RCV005917762	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
EIF2B2-related disorder	Pathogenic; Likely pathogenic	rs104894425, rs113994012, rs771315757, rs372548739	RCV003904806 RCV003422090 RCV003417036 RCV004755992	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Leukoencephalopathy with vanishing white matter 1	Pathogenic	rs104894425	RCV004766978	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Leukoencephalopathy with vanishing white matter 2	Likely pathogenic; Pathogenic	rs373906805, rs104894425, rs104894426, rs104894427, rs104894428, rs113994014, rs113994012, rs767933078, rs752278683, rs113994016, rs397514648, rs372548739, rs755436800	RCV005005970 RCV003221399 RCV003221400 RCV003221401 RCV003221402 RCV003221403 RCV003491935 RCV005008231 RCV005013084 RCV005010559 RCV003221421 RCV005010597 RCV005012302	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Malignant tumor of esophagus	Likely pathogenic	rs752278683	RCV005928335	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Osteogenesis imperfecta	Likely pathogenic; Pathogenic	rs113994016	RCV004543299	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Premature ovarian insufficiency	Pathogenic; Likely pathogenic	rs758398310, rs113994016	RCV000656226 RCV000656227	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Vanishing white matter disease	Pathogenic; Likely pathogenic	rs957633719, rs373906805, rs374037958, rs104894425, rs104894426, rs104894428, rs113994014, rs113994012, rs113994017, rs113994016, rs397514648, rs372548739, rs755436800, rs1595009164, rs761055346, rs113994018, rs767933078, rs1889561523	RCV001331833 RCV003235589 RCV002470092 RCV000004583 RCV000004585 RCV004700188 RCV000779145 RCV000190580 RCV003486507 RCV004526710 RCV003230375 RCV000625780 RCV000779144 RCV000985192 RCV000995538 RCV001255548 RCV001265581 RCV001265582	★★★★★ 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
CHILDHOOD ATAXIA WITH CENTRAL NERVOUS SYSTEM HYPOMYELINIZATION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL NEUROLOGIC ANOMALIES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL OR EARLY INFANTILE CACH SYNDROME	—	Disgenet, Orphanet Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CREE LEUKOENCEPHALOPATHY	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VANISHING WHITE MATTER LEUKODYSTROPHY WITH OVARIAN FAILURE	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adrenal cortical hypofunction	Adrenal Cortical Hypofunction	BEFREE	22285377		★☆☆☆☆ Found in Text Mining only
Adrenoleukodystrophy	Adrenoleukodystrophy	BEFREE	22285377		★☆☆☆☆ Found in Text Mining only
Arrhythmogenic Right Ventricular Dysplasia	Arrhythmogenic right ventricular cardiomyopathy	Pubtator	25031760	Associate	★☆☆☆☆ Found in Text Mining only
Ataxia	Ataxia	Pubtator	12707859	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	31119045		★☆☆☆☆ Found in Text Mining only
Cardiovascular Abnormalities	Cardiovascular abnormalities	Pubtator	25031760	Associate	★☆☆☆☆ Found in Text Mining only
Central nervous system demyelination	Central Nervous System Demyelination	HPO_DG			★☆☆☆☆ Found in Text Mining only
Central Nervous System Diseases	Central nervous system disease	Pubtator	12707859	Associate	★☆☆☆☆ Found in Text Mining only
Cerebellar Ataxia	Cerebellar ataxia	Pubtator	31438897	Associate	★☆☆☆☆ Found in Text Mining only
Childhood Ataxia with Central Nervous System Hypomyelinization	Leukoencephalopathy with vanishing white matter	BEFREE	11704758, 11835386, 12707859, 14993275, 15054402, 15217090, 15723074, 16041584, 16047349, 16246152, 16246171, 16823698, 16998732, 19023445, 19158808, 20016818, 25843247, 26162493, 26671108, 28041799, 28093708, 28306143, 30279648, 30720246, 31134486, 31385086, 31587290		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Childhood Ataxia with Central Nervous System Hypomyelinization	Leukoencephalopathy with vanishing white matter	CLINVAR_DG	11704758, 12707859, 14566705, 15060152, 15136673, 15776425, 18263758, 21560189, 22430157, 27159321		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Childhood Ataxia with Central Nervous System Hypomyelinization	Leukoencephalopathy with vanishing white matter	GENOMICS_ENGLAND_DG	11704758, 12707859, 14566705, 22678813, 24357685, 25655951, 28597716		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Childhood Ataxia with Central Nervous System Hypomyelinization	Leukoencephalopathy with vanishing white matter	UNIPROT_DG	11704758, 12707859, 15776425, 21484434, 22285377, 22729508		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Childhood Ataxia with Central Nervous System Hypomyelinization	Leukoencephalopathy with vanishing white matter	ORPHANET_DG	15136673		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cree leukoencephalopathy	Cree Leukoencephalopathy	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Delusions	Delusions	HPO_DG			★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Development Disorder	BEFREE	22952606		★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	26740508	Associate	★☆☆☆☆ Found in Text Mining only
Developmental regression	Developmental regression	HPO_DG			★☆☆☆☆ Found in Text Mining only
Diffuse Scleroderma	Scleroderma	BEFREE	29294089		★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down Syndrome	BEFREE	31727829		★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	HPO_DG			★☆☆☆☆ Found in Text Mining only
Encephalopathies	Epileptic encephalopathy	BEFREE	14566705, 15021247, 15054402		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	BEFREE	28041799		★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	20016818		★☆☆☆☆ Found in Text Mining only
Late infantile CACH syndrome	CACH Syndrome	Orphanet			★☆☆☆☆ Found in Text Mining only
Leukodystrophy	Leukodystrophy	BEFREE	12707859, 15021247, 15054402, 15136673, 15723074, 16041584, 16378743, 18005052, 18263758, 18519871, 18678442, 20016818, 20958979, 22678813, 22737209, 22952606, 26974157, 29632131, 29740943, 30115954, 30279648, 31134486		★☆☆☆☆ Found in Text Mining only
Leukoencephalopathy	Leukoencephalopathy	BEFREE	12499492, 14566705, 21560189, 24938145, 26625702, 28041799, 29706645, 30720246		★☆☆☆☆ Found in Text Mining only
Leukoencephalopathy	Leukoencephalopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Lung Diseases, Interstitial	Lung Diseases	BEFREE	29294089		★☆☆☆☆ Found in Text Mining only
Macrocephaly	Macrocephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	31119045		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	29036434		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	28096186		★☆☆☆☆ Found in Text Mining only
Mood Disorders	Mood disorder	Pubtator	29187730	Associate	★☆☆☆☆ Found in Text Mining only
Mood swings	Mood swings	HPO_DG			★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	18632786, 26671108, 28093708		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	30538549		★☆☆☆☆ Found in Text Mining only
Nervous System Diseases	Nervous system disease	Pubtator	12707859	Associate	★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	22238342, 26614666		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	14729329, 15060152, 16246171, 22678813, 23335982, 28306143, 28597716, 29036434, 29489452		★☆☆☆☆ Found in Text Mining only
Neurodevelopmental Disorders	Neurodevelopmental Disorders	BEFREE	26740508		★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ovarian Failure, Premature	Ovarian Failure	BEFREE	15021247		★☆☆☆☆ Found in Text Mining only
OVARIOLEUKODYSTROPHY	Ovarioleukodystrophy	CTD_human_DG	12707859		★☆☆☆☆ Found in Text Mining only
OVARIOLEUKODYSTROPHY	Ovarioleukodystrophy	BEFREE	15054402, 18005052, 18061208, 18263758		★☆☆☆☆ Found in Text Mining only
OVARIOLEUKODYSTROPHY	Ovarioleukodystrophy	ORPHANET_DG	15136673		★☆☆☆☆ Found in Text Mining only
Ovarioleukodystrophy	Ovarioleukodystrophy	Orphanet			★☆☆☆☆ Found in Text Mining only
OVARIOLEUKODYSTROPHY	Ovarioleukodystrophy	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	15986317		★☆☆☆☆ Found in Text Mining only
Premature Menopause	Premature Menopause	BEFREE	15021247		★☆☆☆☆ Found in Text Mining only
Premature Menopause	Premature Menopause	CLINVAR_DG	29706645		★☆☆☆☆ Found in Text Mining only
Premature Menopause	Premature Menopause	HPO_DG			★☆☆☆☆ Found in Text Mining only
Primary physiologic amenorrhea	Physiologic Amenorrhea	HPO_DG			★☆☆☆☆ Found in Text Mining only
Rett Syndrome	Rett syndrome	Pubtator	26740508	Associate	★☆☆☆☆ Found in Text Mining only
Scleroderma	Scleroderma	BEFREE	29294089		★☆☆☆☆ Found in Text Mining only
Secondary physiologic amenorrhea	Secondary Physiologic Amenorrhea	HPO_DG			★☆☆☆☆ Found in Text Mining only
Seizures	Seizures	Pubtator	35897042	Associate	★☆☆☆☆ Found in Text Mining only
Status Epilepticus	Status epilepticus	Pubtator	35897042	Associate	★☆☆☆☆ Found in Text Mining only
Systemic Scleroderma	Scleroderma	BEFREE	29294089		★☆☆☆☆ Found in Text Mining only
Vanishing White Matter Leukodystrophy with Ovarian Failure	Vanishing white matter disease	Pubtator	31438897	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations