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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	8892
Gene name	Eukaryotic translation initiation factor 2B subunit beta
Gene symbol	EIF2B2
Synonyms (NCBI Gene)	EIF-2BbetaEIF2BEIF2BbetaVWM2
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]

Show/Hide all (14)

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

209

Show/Hide all (209)

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

Show/Hide all (33)

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

MIM	HGNC	e!Ensembl
606454	3258	ENSG00000119718

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

Interactions

View interactions

	KEGG		Reactome
	Herpes simplex virus 1 infection		Recycling of eIF2:GDP

114

Show/Hide Causal Diseases (10)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Abnormality of the nervous system	Likely pathogenic; Pathogenic	rs397514648, rs372548739	RCV001814020 RCV001814200
Clear cell carcinoma of kidney	Likely pathogenic	rs373906805	RCV005917762
EIF2B2-related disorder	Pathogenic; Likely pathogenic	rs104894425, rs113994012, rs771315757, rs372548739	RCV003904806 RCV003422090 RCV003417036 RCV004755992
Leukoencephalopathy with vanishing white matter 1	Pathogenic	rs104894425	RCV004766978
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
Malignant tumor of esophagus	Likely pathogenic	rs752278683	RCV005928335
Osteogenesis imperfecta	Likely pathogenic; Pathogenic	rs113994016	RCV004543299
Premature ovarian insufficiency	Pathogenic; Likely pathogenic	rs758398310, rs113994016	RCV000656226 RCV000656227
See cases	Pathogenic; Likely pathogenic	rs104894425, rs113994012	RCV002251875 RCV002252039
Vanishing white matter disease	Pathogenic; Likely pathogenic	rs957633719, rs373906805, rs374037958, rs104894425, rs104894426, rs104894428, rs113994014, rs113994012, rs113994017, rs113994016, rs397514648, rs372548739, rs755436800, rs1595009164, rs761055346 View all (3 more)	RCV001331833 RCV003235589 RCV002470092 RCV000004583 RCV000004585 RCV004700188 RCV000779145 RCV000190580 RCV003486507 RCV004526710 RCV003230375 RCV000625780 RCV000779144 RCV000985192 RCV000995538 RCV001255548 RCV001265581 RCV001265582

Show/Hide Unknown Diseases (7)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Benign	rs201252172	RCV005916854
Lung cancer	Benign	rs201252172	RCV005916857
Ovarian serous cystadenocarcinoma	Benign; Likely benign	rs759931855, rs754847169	RCV005925150 RCV005935050
Sarcoma	Benign	rs201252172, rs371500682, rs71426992	RCV005916855 RCV005915684 RCV005925107
Thymoma	Benign	rs71426992	RCV005925109
Uterine carcinosarcoma	Benign	rs201252172, rs71426992	RCV005916856 RCV005925108
Uterine corpus endometrial carcinoma	Benign	rs71426992	RCV005925110

Show/Hide Text Mining Associations (17)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Arrhythmogenic Right Ventricular Dysplasia	Associate	25031760
Ataxia	Associate	12707859
Cardiovascular Abnormalities	Associate	25031760
Central Nervous System Diseases	Associate	12707859
Cerebellar Ataxia	Associate	31438897
Developmental Disabilities	Associate	26740508
Leukemic Infiltration	Associate	25031760
Leukoencephalopathies	Associate	12707859, 14993275, 16823698, 25031760, 29632131, 29706645, 31438897, 35897042, 36793200
Mood Disorders	Associate	29187730
Nervous System Diseases	Associate	12707859
Neurologic Manifestations	Associate	24811713, 29706645
Primary Ovarian Insufficiency	Associate	29706645, 32962729
Rett Syndrome	Associate	26740508
Seizures	Associate	35897042
Status Epilepticus	Associate	35897042
Sudden Unexpected Death in Epilepsy	Associate	25031760
Vanishing White Matter Leukodystrophy with Ovarian Failure	Associate	31438897

EIF2B2 (eukaryotic translation initiation factor 2B subunit beta)