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	440275
Gene name	Eukaryotic translation initiation factor 2 alpha kinase 4
Gene symbol	EIF2AK4
Synonyms (NCBI Gene)	GCN2PVOD2
Chromosome	15
Chromosome location	15q15.1
Summary	This gene encodes a member of a family of kinases that phosphorylate the alpha subunit of eukaryotic translation initiation factor-2 (EIF2), resulting in the downregulaton of protein synthesis. The encoded protein responds to amino acid deprivation by bin

Show/Hide all (47)

SNP ID	Visualize variation	Clinical significance	Consequence
rs35480871	A>G	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs202140402	C>T	Pathogenic	Coding sequence variant, stop gained
rs371276330	A>C	Likely-pathogenic	Intron variant
rs376877634	C>A,T	Pathogenic	Intron variant
rs587777102	T>-	Pathogenic-likely-pathogenic	Frameshift variant, coding sequence variant
rs587777103	C>T	Pathogenic	Stop gained, coding sequence variant
rs587777104	->G	Pathogenic	Frameshift variant, coding sequence variant
rs587777105	C>T	Pathogenic	Stop gained, coding sequence variant
rs587777106	G>A	Pathogenic	Coding sequence variant, missense variant
rs587777107	C>G,T	Pathogenic	Stop gained, coding sequence variant, missense variant
rs587777207	C>T	Pathogenic	Stop gained, coding sequence variant
rs587777208	C>T	Pathogenic	Stop gained, coding sequence variant
rs745339673	CAGA>-	Pathogenic	Frameshift variant, coding sequence variant
rs751247185	->CACT	Pathogenic	Frameshift variant, coding sequence variant
rs756315327	T>-	Likely-pathogenic	Stop gained, coding sequence variant
rs756902589	G>T	Pathogenic	Splice donor variant
rs757852728	T>G	Pathogenic	Missense variant, coding sequence variant
rs759101551	C>G,T	Pathogenic	Missense variant, stop gained, coding sequence variant
rs760842663	C>T	Pathogenic	Stop gained, coding sequence variant
rs767131900	CTGACCAACG>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs771359303	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs772487425	AAGAA>-	Pathogenic	Frameshift variant, coding sequence variant
rs774163084	C>G,T	Pathogenic	Stop gained, coding sequence variant, missense variant
rs774906916	C>T	Pathogenic	Coding sequence variant, missense variant
rs775819448	->G	Pathogenic	Frameshift variant, coding sequence variant
rs776140816	G>A,C	Pathogenic	Splice donor variant
rs886037661	G>A	Pathogenic	Splice acceptor variant
rs1085307439	TG>-	Pathogenic	Coding sequence variant, frameshift variant
rs1085307441	G>A	Pathogenic	Splice donor variant
rs1085307442	G>A	Pathogenic	Synonymous variant, coding sequence variant
rs1085307443	C>T	Pathogenic	Stop gained, coding sequence variant
rs1085307444	->T	Pathogenic	Coding sequence variant, frameshift variant
rs1085307445	GTAAGTGGCTTTC>TTCT	Pathogenic	Splice donor variant, intron variant
rs1159906680	A>G,T	Likely-pathogenic	Coding sequence variant, missense variant
rs1181863323	->T	Likely-pathogenic	Coding sequence variant, stop gained
rs1291600097	G>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1327297003	T>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1555417104	GAAAG>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1595402535	->A	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1595403854	T>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1595414835	C>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1595418005	G>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1595431276	T>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1595437286	->T	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1595539403	A>G	Pathogenic	Splice acceptor variant
rs1595541066	->A	Pathogenic	Coding sequence variant, frameshift variant
rs1595552181	CT>-	Likely-pathogenic	Coding sequence variant, frameshift variant

155

Show/Hide all (155)

miRTarBase ID	miRNA	Experiments	Reference
MIRT572593	hsa-miR-4282	PAR-CLIP	20371350
MIRT572594	hsa-miR-3617-5p	PAR-CLIP	20371350
MIRT572592	hsa-miR-641	PAR-CLIP	20371350
MIRT572591	hsa-miR-208a-3p	PAR-CLIP	20371350
MIRT572590	hsa-miR-208b-3p	PAR-CLIP	20371350
MIRT572589	hsa-miR-499a-5p	PAR-CLIP	20371350
MIRT572587	hsa-miR-3658	PAR-CLIP	20371350
MIRT572588	hsa-miR-7856-5p	PAR-CLIP	20371350
MIRT572593	hsa-miR-4282	PAR-CLIP	20371350
MIRT572594	hsa-miR-3617-5p	PAR-CLIP	20371350
MIRT572592	hsa-miR-641	PAR-CLIP	20371350
MIRT572591	hsa-miR-208a-3p	PAR-CLIP	20371350
MIRT572590	hsa-miR-208b-3p	PAR-CLIP	20371350
MIRT572589	hsa-miR-499a-5p	PAR-CLIP	20371350
MIRT572587	hsa-miR-3658	PAR-CLIP	20371350
MIRT572588	hsa-miR-7856-5p	PAR-CLIP	20371350
MIRT956664	hsa-miR-1182	CLIP-seq
MIRT956665	hsa-miR-1197	CLIP-seq
MIRT956666	hsa-miR-122	CLIP-seq
MIRT956667	hsa-miR-1267	CLIP-seq
MIRT956668	hsa-miR-145	CLIP-seq
MIRT956669	hsa-miR-193a-5p	CLIP-seq
MIRT956670	hsa-miR-208a	CLIP-seq
MIRT956671	hsa-miR-208b	CLIP-seq
MIRT956672	hsa-miR-3120-5p	CLIP-seq
MIRT956673	hsa-miR-3194-3p	CLIP-seq
MIRT956674	hsa-miR-3199	CLIP-seq
MIRT956675	hsa-miR-3617	CLIP-seq
MIRT956676	hsa-miR-3674	CLIP-seq
MIRT956677	hsa-miR-431	CLIP-seq
MIRT956678	hsa-miR-4438	CLIP-seq
MIRT956679	hsa-miR-4463	CLIP-seq
MIRT956680	hsa-miR-4494	CLIP-seq
MIRT956681	hsa-miR-4646-3p	CLIP-seq
MIRT956682	hsa-miR-4704-3p	CLIP-seq
MIRT956683	hsa-miR-4712-5p	CLIP-seq
MIRT956684	hsa-miR-4733-5p	CLIP-seq
MIRT956685	hsa-miR-4795-3p	CLIP-seq
MIRT956686	hsa-miR-499-5p	CLIP-seq
MIRT956687	hsa-miR-5095	CLIP-seq
MIRT956688	hsa-miR-513a-3p	CLIP-seq
MIRT956689	hsa-miR-516b	CLIP-seq
MIRT956690	hsa-miR-543	CLIP-seq
MIRT956691	hsa-miR-577	CLIP-seq
MIRT956692	hsa-miR-770-5p	CLIP-seq
MIRT956693	hsa-miR-885-5p	CLIP-seq
MIRT1983313	hsa-miR-1178	CLIP-seq
MIRT1983314	hsa-miR-1184	CLIP-seq
MIRT1983315	hsa-miR-1273f	CLIP-seq
MIRT956669	hsa-miR-193a-5p	CLIP-seq
MIRT1983316	hsa-miR-3155	CLIP-seq
MIRT1983317	hsa-miR-3155b	CLIP-seq
MIRT956677	hsa-miR-431	CLIP-seq
MIRT1983318	hsa-miR-4418	CLIP-seq
MIRT956682	hsa-miR-4704-3p	CLIP-seq
MIRT1983319	hsa-miR-484	CLIP-seq
MIRT1983320	hsa-miR-509-3-5p	CLIP-seq
MIRT1983321	hsa-miR-509-5p	CLIP-seq
MIRT956690	hsa-miR-543	CLIP-seq
MIRT1983322	hsa-miR-615-5p	CLIP-seq
MIRT956693	hsa-miR-885-5p	CLIP-seq
MIRT1983314	hsa-miR-1184	CLIP-seq
MIRT2218507	hsa-miR-1200	CLIP-seq
MIRT956666	hsa-miR-122	CLIP-seq
MIRT2218508	hsa-miR-1227	CLIP-seq
MIRT2218509	hsa-miR-24	CLIP-seq
MIRT2218510	hsa-miR-2467-5p	CLIP-seq
MIRT2218511	hsa-miR-3129-3p	CLIP-seq
MIRT2218512	hsa-miR-3188	CLIP-seq
MIRT956674	hsa-miR-3199	CLIP-seq
MIRT2218513	hsa-miR-3975	CLIP-seq
MIRT2218514	hsa-miR-4324	CLIP-seq
MIRT1983318	hsa-miR-4418	CLIP-seq
MIRT956678	hsa-miR-4438	CLIP-seq
MIRT956679	hsa-miR-4463	CLIP-seq
MIRT956680	hsa-miR-4494	CLIP-seq
MIRT2218515	hsa-miR-455-5p	CLIP-seq
MIRT956681	hsa-miR-4646-3p	CLIP-seq
MIRT2218516	hsa-miR-4649-3p	CLIP-seq
MIRT956682	hsa-miR-4704-3p	CLIP-seq
MIRT2218517	hsa-miR-4714-3p	CLIP-seq
MIRT2218518	hsa-miR-4715-3p	CLIP-seq
MIRT2218519	hsa-miR-485-5p	CLIP-seq
MIRT1983320	hsa-miR-509-3-5p	CLIP-seq
MIRT956687	hsa-miR-5095	CLIP-seq
MIRT1983321	hsa-miR-509-5p	CLIP-seq
MIRT2218520	hsa-miR-544b	CLIP-seq
MIRT2218521	hsa-miR-640	CLIP-seq
MIRT1983314	hsa-miR-1184	CLIP-seq
MIRT1983318	hsa-miR-4418	CLIP-seq
MIRT956682	hsa-miR-4704-3p	CLIP-seq
MIRT1983320	hsa-miR-509-3-5p	CLIP-seq
MIRT1983321	hsa-miR-509-5p	CLIP-seq
MIRT956689	hsa-miR-516b	CLIP-seq
MIRT1983313	hsa-miR-1178	CLIP-seq
MIRT956666	hsa-miR-122	CLIP-seq
MIRT2218508	hsa-miR-1227	CLIP-seq
MIRT1983315	hsa-miR-1273f	CLIP-seq
MIRT956669	hsa-miR-193a-5p	CLIP-seq
MIRT2521967	hsa-miR-3074-5p	CLIP-seq
MIRT2218511	hsa-miR-3129-3p	CLIP-seq
MIRT1983316	hsa-miR-3155	CLIP-seq
MIRT1983317	hsa-miR-3155b	CLIP-seq
MIRT956674	hsa-miR-3199	CLIP-seq
MIRT2521968	hsa-miR-3663-5p	CLIP-seq
MIRT2521969	hsa-miR-371-5p	CLIP-seq
MIRT2521970	hsa-miR-371b-5p	CLIP-seq
MIRT2521971	hsa-miR-3976	CLIP-seq
MIRT2521972	hsa-miR-4274	CLIP-seq
MIRT956677	hsa-miR-431	CLIP-seq
MIRT2521973	hsa-miR-4312	CLIP-seq
MIRT956678	hsa-miR-4438	CLIP-seq
MIRT956679	hsa-miR-4463	CLIP-seq
MIRT956680	hsa-miR-4494	CLIP-seq
MIRT2218515	hsa-miR-455-5p	CLIP-seq
MIRT956681	hsa-miR-4646-3p	CLIP-seq
MIRT956682	hsa-miR-4704-3p	CLIP-seq
MIRT2218518	hsa-miR-4715-3p	CLIP-seq
MIRT2521974	hsa-miR-4722-3p	CLIP-seq
MIRT2521975	hsa-miR-4735-5p	CLIP-seq
MIRT2521976	hsa-miR-4775	CLIP-seq
MIRT1983319	hsa-miR-484	CLIP-seq
MIRT2521977	hsa-miR-498	CLIP-seq
MIRT956687	hsa-miR-5095	CLIP-seq
MIRT2521978	hsa-miR-590-3p	CLIP-seq
MIRT1983322	hsa-miR-615-5p	CLIP-seq
MIRT1983313	hsa-miR-1178	CLIP-seq
MIRT956666	hsa-miR-122	CLIP-seq
MIRT2218508	hsa-miR-1227	CLIP-seq
MIRT1983315	hsa-miR-1273f	CLIP-seq
MIRT956669	hsa-miR-193a-5p	CLIP-seq
MIRT2218511	hsa-miR-3129-3p	CLIP-seq
MIRT1983316	hsa-miR-3155	CLIP-seq
MIRT1983317	hsa-miR-3155b	CLIP-seq
MIRT956674	hsa-miR-3199	CLIP-seq
MIRT2521968	hsa-miR-3663-5p	CLIP-seq
MIRT2521969	hsa-miR-371-5p	CLIP-seq
MIRT2521970	hsa-miR-371b-5p	CLIP-seq
MIRT2521971	hsa-miR-3976	CLIP-seq
MIRT2521972	hsa-miR-4274	CLIP-seq
MIRT956677	hsa-miR-431	CLIP-seq
MIRT956678	hsa-miR-4438	CLIP-seq
MIRT956679	hsa-miR-4463	CLIP-seq
MIRT956680	hsa-miR-4494	CLIP-seq
MIRT2218515	hsa-miR-455-5p	CLIP-seq
MIRT956681	hsa-miR-4646-3p	CLIP-seq
MIRT956682	hsa-miR-4704-3p	CLIP-seq
MIRT2218518	hsa-miR-4715-3p	CLIP-seq
MIRT2521975	hsa-miR-4735-5p	CLIP-seq
MIRT2521976	hsa-miR-4775	CLIP-seq
MIRT1983319	hsa-miR-484	CLIP-seq
MIRT2521977	hsa-miR-498	CLIP-seq
MIRT956687	hsa-miR-5095	CLIP-seq
MIRT2521978	hsa-miR-590-3p	CLIP-seq
MIRT1983322	hsa-miR-615-5p	CLIP-seq

Show/Hide all (61)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000049	Function	TRNA binding	IEA
GO:0000049	Function	TRNA binding	ISS
GO:0000077	Process	DNA damage checkpoint signaling	IEA
GO:0000166	Function	Nucleotide binding	IEA
GO:0002230	Process	Positive regulation of defense response to virus by host	ISS
GO:0002250	Process	Adaptive immune response	IEA
GO:0002286	Process	T cell activation involved in immune response	ISS
GO:0002376	Process	Immune system process	IEA
GO:0002821	Process	Positive regulation of adaptive immune response	ISS
GO:0003723	Function	RNA binding	IEA
GO:0004672	Function	Protein kinase activity	IEA
GO:0004674	Function	Protein serine/threonine kinase activity	IEA
GO:0004674	Function	Protein serine/threonine kinase activity	ISS
GO:0004694	Function	Eukaryotic translation initiation factor 2alpha kinase activity	IBA
GO:0004694	Function	Eukaryotic translation initiation factor 2alpha kinase activity	IDA	25329545
GO:0004694	Function	Eukaryotic translation initiation factor 2alpha kinase activity	IEA
GO:0004694	Function	Eukaryotic translation initiation factor 2alpha kinase activity	IMP	25329545
GO:0004694	Function	Eukaryotic translation initiation factor 2alpha kinase activity	ISS	10504407
GO:0005524	Function	ATP binding	IEA
GO:0005634	Component	Nucleus	IBA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	ISS
GO:0005829	Component	Cytosol	IBA
GO:0006413	Process	Translational initiation	IDA	16289705
GO:0006417	Process	Regulation of translation	IEA
GO:0006446	Process	Regulation of translational initiation	ISS
GO:0006468	Process	Protein phosphorylation	ISS
GO:0007399	Process	Nervous system development	IEA
GO:0007612	Process	Learning	ISS
GO:0007616	Process	Long-term memory	ISS
GO:0010998	Process	Regulation of translational initiation by eIF2 alpha phosphorylation	IMP	26102367
GO:0010998	Process	Regulation of translational initiation by eIF2 alpha phosphorylation	ISS
GO:0016301	Function	Kinase activity	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0019081	Process	Viral translation	ISS
GO:0022626	Component	Cytosolic ribosome	ISS
GO:0032057	Process	Negative regulation of translational initiation in response to stress	IBA
GO:0032057	Process	Negative regulation of translational initiation in response to stress	ISS
GO:0032792	Process	Negative regulation of CREB transcription factor activity	ISS
GO:0034198	Process	Cellular response to amino acid starvation	IBA
GO:0034198	Process	Cellular response to amino acid starvation	IEA
GO:0034198	Process	Cellular response to amino acid starvation	IMP	25329545
GO:0034644	Process	Cellular response to UV	ISS
GO:0034976	Process	Response to endoplasmic reticulum stress	IEA
GO:0044828	Process	Host-mediated suppression of viral genome replication	ISS
GO:0045665	Process	Negative regulation of neuron differentiation	ISS
GO:0045947	Process	Negative regulation of translational initiation	ISS
GO:0046777	Process	Protein autophosphorylation	ISS
GO:0051607	Process	Defense response to virus	IEA
GO:0051726	Process	Regulation of cell cycle	IEA
GO:0060259	Process	Regulation of feeding behavior	ISS
GO:0070417	Process	Cellular response to cold	IMP	25329545
GO:0071264	Process	Positive regulation of translational initiation in response to starvation	ISS
GO:0106310	Function	Protein serine kinase activity	IEA
GO:0140469	Process	GCN2-mediated signaling	IDA	25329545
GO:0140469	Process	GCN2-mediated signaling	IEA
GO:0140469	Process	GCN2-mediated signaling	IMP	26102367
GO:0140469	Process	GCN2-mediated signaling	ISS
GO:1900273	Process	Positive regulation of long-term synaptic potentiation	ISS
GO:1990138	Process	Neuron projection extension	ISS

MIM	HGNC	e!Ensembl
609280	19687	ENSG00000128829

Q9P2K8

Protein name

eIF-2-alpha kinase GCN2 (EC 2.7.11.1) (Eukaryotic translation initiation factor 2-alpha kinase 4) (GCN2-like protein)

Protein function

Metabolic-stress sensing protein kinase that phosphorylates the alpha subunit of eukaryotic translation initiation factor 2 (EIF2S1/eIF-2-alpha) in response to low amino acid availability (PubMed:25329545, PubMed:32610081). Plays a role as an ac

PDB

6N3L , 6N3N , 6N3O , 7E2K , 7E2M , 7QQ6 , 7QWK , 8T7T

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF05773	RWD	21 → 134	RWD domain	Domain
PF00069	Pkinase	325 → 539	Protein kinase domain	Domain
PF00069	Pkinase	590 → 662	Protein kinase domain	Domain
PF00069	Pkinase	788 → 1001	Protein kinase domain	Domain
PF13393	tRNA-synt_His	1056 → 1381	Histidyl-tRNA synthetase	Domain
PF12745	HGTP_anticodon2	1393 → 1648	Anticodon binding domain of tRNAs	Domain

Tissue specificity

TISSUE SPECIFICITY: Widely expressed (PubMed:10504407). Expressed in lung, smooth muscle cells and macrophages (PubMed:24292273). {ECO:0000269|PubMed:10504407, ECO:0000269|PubMed:24292273}.

Sequence

MAGGRGAPGRGRDEPPESYPQRQDHELQALEAIYGADFQDLRPDACGPVKEPPEINLVLY
PQGLTGEEVYVKVDLRVKCPPTYPDVVPEIELKNAKGLSNESVNLLKSRLEELAKKHCGE
VMIFELAYHVQSFLSEHNKPPPKSFHEEMLERRAQEEQQRLLEAKRKEEQEQREILHEIQ
RRKEEIKEEKKRKEMAKQERLEIASLSNQDHTSKKDPGGHRTAAILHGGSPDFVGNGKHR
ANSSGRSRRERQYSVCNSEDSPGSCEILYFNMGSPDQLMVHKGKCIGSDEQLGKLVYNAL
ETATGGFVLLYEWVLQWQKKMGPFLTSQEKEKIDKCKKQIQGTETEFNSLVKLSHPNVVR
YLAMNLKEQDDSIVVDILVEHISGVSLAAHLSHSGPIPVHQLRRYTAQLLSGLDYLHSNS
VVHKVLSASNVLVDAEGTVKITDYSISKRLADICKEDVFEQTRVRFSDNALPYKTGKKGD
VWRLGLLLLSLSQGQECGEYPVTIPSDLPADFQDFLKKCVCLDDKERWSPQQLLKHSFIN
PQPKMPLVEQSPEDSEGQDYVETVIPSNRLPSAAFFSETQRQFSRYFIEFEELQLLGKGA
FGAVIKVQNKLDGCCYAVKRIPINPASRQFRRIKGEVTLLSRLHHENIVRYYNAWIERHE
RPAGPGTPPPDSGPLAKDDRAARGQPASDTDGLDSVEAAAPPPILSSSVEWSTSGERSAS
ARFPATGPGSSDDEDDDEDEHGGVFSQSFLPASDSESDIIFDNEDENSKSQNQDEDCNEK
NGCHESEPSVTTEAVHYLYIQMEYCEKSTLRDTIDQGLYRDTVRLWRLFREILDGLAYIH
EKGMIHRDLKPVNIFLDSDDHVKIGDFGLATDHLAFSADSKQDDQTGDLIKSDPSGHLTG
MVGTALYVSPEVQGSTKSAYNQKVDLFSLGIIFFEMSYHPMVTASERIFVLNQLRDPTSP
KFPEDFDDGEHAKQKSVISWLLNHDPAKRPTATELLKSELLPPPQMEESELHEVLHHTLT
NVDGKAYRTMMAQIFSQRISPAIDYTYDSDILKGNFSIRTAKMQQHVCETIIRIFKRHGA
VQLCTPLLLPRNRQIYEHNEAALFMDHSGMLVMLPFDLRIPFARYVARNNILNLKRYCIE
RVFRPRKLDRFHPKELLECAFDIVTSTTNSFLPTAEIIYTIYEIIQEFPALQERNYSIYL
NHTMLLKAILLHCGIPEDKLSQVYIILYDAVTEKLTRREVEAKFCNLSLSSNSLCRLYKF
IEQKGDLQDLMPTINSLIKQKTGIAQLVKYGLKDLEEVVGLLKKLGIKLQVLINLGLVYK
VQQHNGIIFQFVAFIKRRQRAVPEILAAGGRYDLLIPQFRGPQALGPVPTAIGVSIAIDK
ISAAVLNMEESVTISSCDLLVVSVGQMSMSRAINLTQKLWTAGITAEIMYDWSQSQEELQ
EYCRHHEITYVALVSDKEGSHVKVKSFEKERQTEKRVLETELVDHVLQKLRTKVTDERNG
REASDNLAVQNLKGSFSNASGLFEIHGATVVPIVSVLAPEKLSASTRRRYETQVQTRLQT
SLANLHQKSSEIEILAVDLPKETILQFLSLEWDADEQAFNTTVKQLLSRLPKQRYLKLVC
DEIYNIKVEKKVSVLFLYSYRDDYYRILF

Sequence length

1649

Interactions

View interactions

	KEGG
	Autophagy - animal Hepatitis C Measles Herpes simplex virus 1 infection

163

Show/Hide Causal Diseases (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
EIF2AK4-related disorder	Likely pathogenic; Pathogenic	rs2504564381, rs2504537554, rs2034558794	RCV003402103 RCV003402915 RCV003924405
Familial pulmonary capillary hemangiomatosis	Pathogenic; Likely pathogenic	rs587777102, rs587777103, rs587777104, rs587777105, rs587777106, rs587777107, rs775819448, rs587777207, rs587777208, rs886037661, rs776140816, rs770279669, rs772487425, rs2504573137, rs1085307439 View all (30 more)	RCV000083306 RCV000083307 RCV000083308 RCV000083309 RCV000083310 RCV000083311 RCV000087755 RCV000087756 RCV000087757 RCV000087758 RCV001783194 RCV005356167 RCV000488528 RCV003337736 RCV000488788 RCV000488705 RCV000488704 RCV000488861 RCV000488596 RCV000488727 RCV000488486 RCV000488559 RCV000488748 RCV000488475 RCV000488662 RCV000488503 RCV000488628 RCV000488784 RCV000488522 RCV001003761 RCV001003762 RCV001003763 RCV001003764 RCV001003765 RCV001003766 RCV001003767 RCV001003768 RCV001003769 RCV001003770 RCV001003771 RCV001003772 RCV001003773 RCV001003774 RCV001003775 RCV001003759 RCV001003760
Pulmonary arterial hypertension	Pathogenic; Likely pathogenic	rs2504524056, rs1566988788, rs756315327	RCV002285235 RCV002285245 RCV001003776
Pulmonary venoocclusive disease 1	Likely pathogenic	rs1327297003	RCV000826105

Show/Hide Unknown Diseases (16)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Benign; Uncertain significance	rs59287083, rs2307107, rs370266765	RCV005919693 RCV005925258 RCV005925713
Cervical cancer	Benign	rs7165452, rs3816898	RCV005898831 RCV005898808
Cholangiocarcinoma	Benign	rs2307107, rs143968955	RCV005925261 RCV005869540
Colon adenocarcinoma	Likely benign	rs538944963	RCV005903217
EBV-positive nodal T- and NK-cell lymphoma	Likely benign	rs2504661250	RCV004560248
Gastric cancer	Benign; Likely benign	rs143968955, rs538944963	RCV005869539 RCV005903218
Hepatocellular carcinoma	Uncertain significance	rs773805280	RCV005924240
Lung cancer	Benign; Likely benign	rs7165452, rs748280701	RCV005898832 RCV005902182
Malignant tumor of esophagus	Benign	rs59287083, rs7165452, rs3816898	RCV005919695 RCV005898830 RCV005898807
Malignant tumor of urinary bladder	Benign	rs59287083	RCV005919694
Ovarian serous cystadenocarcinoma	Benign; Likely benign	rs201918333	RCV005910913
Sarcoma	Benign	rs2307107	RCV005925259
Thymoma	Benign	rs2307107	RCV005925260
Thyroid cancer, nonmedullary, 1	Benign; Likely benign	rs35480871	RCV005897306
Uterine corpus endometrial carcinoma	Benign	rs59287083, rs2307107, rs7165452	RCV005919696 RCV005925262 RCV005898833
Uveal melanoma	Benign	rs143968955	RCV005869538

Show/Hide Text Mining Associations (29)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Alzheimer Disease	Associate	33798591
Carcinoma Hepatocellular	Associate	33910445, 35839757
Carcinoma Renal Cell	Associate	29865032
Colonic Neoplasms	Associate	37452637
Colorectal Neoplasms	Associate	22435535, 25892863, 37452637
Crohn Disease	Associate	26986695
Escherichia coli Infections	Associate	26986695
Familial Primary Pulmonary Hypertension	Associate	34731104
Hepatic Veno Occlusive Disease	Associate	27809840
Hypertension Pulmonary	Associate	31636247, 31711431
Infections	Stimulate	23417324
Inflammation	Associate	26986695
Kidney Neoplasms	Associate	29865032
Lung Diseases	Associate	32461209, 32471403, 36898579
Lung Neoplasms	Associate	30158316
Lymphatic Metastasis	Stimulate	29865032
Mitochondrial Diseases	Associate	27708226
Mitochondrial Diseases	Stimulate	30380689
Multiple Sclerosis Relapsing Remitting	Associate	37047371
Neoplasms	Associate	25589675, 27129276, 29865032, 30061420, 30626938, 31211507, 33883278, 33910445, 36898579
Neurologic Manifestations	Associate	36898579
Obesity	Associate	24827717
Pulmonary Arterial Hypertension	Associate	27809840, 30285736, 33066286, 35346192, 36653758
Pulmonary Arterial Hypertension Hereditary Hemorrhagic Telangiectasia Related	Associate	31711431
Pulmonary Veno Occlusive Disease	Associate	24135949, 26462560, 26541523, 26699722, 27587546, 28972005, 29743074, 30285736, 30578383, 30679663, 31202500, 31636247, 31711431, 32461209, 32471403 View all (7 more)
Sjogren's Syndrome	Associate	36653758
Stenosis Pulmonary Vein	Associate	36653758
Stomach Neoplasms	Associate	27708226, 37260027
Triple Negative Breast Neoplasms	Associate	37834012

EIF2AK4 (eukaryotic translation initiation factor 2 alpha kinase 4)