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

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	440275
Gene name Gene Name - the full gene name approved by the HGNC.	Eukaryotic translation initiation factor 2 alpha kinase 4
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	EIF2AK4
Synonyms (NCBI Gene) Gene synonyms aliases	GCN2, PVOD2
Chromosome Chromosome number	15
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	15q15.1
Summary Summary of gene provided in NCBI Entrez Gene.	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

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

Protein

UniProt ID

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

Show/Hide Causal Diseases (3)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Pulmonary arterial hypertension	pulmonary arterial hypertension	rs756315327	N/A
Pulmonary capillary hemangiomatosis	Familial pulmonary capillary hemangiomatosis	rs772487425, rs774906916, rs1595414835, rs587777102, rs1595539403, rs1085307439, rs756902589, rs1595418005, rs587777103, rs371276330, rs202140402, rs776140816, rs767131900, rs587777104, rs376877634 View all (28 more)	N/A
Pulmonary venoocclusive disease	Pulmonary venoocclusive disease 1	rs1327297003	N/A

Show/Hide Unknown Diseases (4)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Angioma	pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis	N/A	N/A	GenCC
Dementia	Dementia	N/A	N/A	GWAS
Heritable Pulmonary Arterial Hypertension	heritable pulmonary arterial hypertension	N/A	N/A	GenCC
Hypertension	Hypertension	N/A	N/A	GWAS

Show/Hide Text Mining Associations (29)

Disease Name	Relationship Type	References
Associations from Text Mining Disease 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)