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	5297
Gene name	Phosphatidylinositol 4-kinase alpha
Gene symbol	PI4KA
Synonyms (NCBI Gene)	GIDID2PI4K-ALPHAPIK4CAPMGYCHASPG84pi4K230
Chromosome	22
Chromosome location	22q11.21
Summary	This gene encodes a phosphatidylinositol (PI) 4-kinase which catalyzes the first committed step in the biosynthesis of phosphatidylinositol 4,5-bisphosphate. The mammalian PI 4-kinases have been classified into two types, II and III, based on their molecu

Show/Hide all (3)

SNP ID	Visualize variation	Clinical significance	Consequence
rs747119727	C>T	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant, genic downstream transcript variant
rs777006911	G>A	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs1555884508	G>A	Likely-pathogenic	Non coding transcript variant, coding sequence variant, stop gained

117

Show/Hide all (117)

miRTarBase ID	miRNA	Experiments	Reference
MIRT048844	hsa-miR-93-5p	CLASH	23622248
MIRT041683	hsa-miR-484	CLASH	23622248
MIRT439980	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT439980	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT1232804	hsa-miR-1913	CLIP-seq
MIRT1232805	hsa-miR-3189-5p	CLIP-seq
MIRT1232806	hsa-miR-3197	CLIP-seq
MIRT1232807	hsa-miR-324-3p	CLIP-seq
MIRT1232808	hsa-miR-4459	CLIP-seq
MIRT1232809	hsa-miR-4640-5p	CLIP-seq
MIRT1232810	hsa-miR-4695-5p	CLIP-seq
MIRT1232811	hsa-miR-4726-5p	CLIP-seq
MIRT1232812	hsa-miR-4758-3p	CLIP-seq
MIRT1232813	hsa-miR-604	CLIP-seq
MIRT1232814	hsa-miR-662	CLIP-seq
MIRT1232815	hsa-miR-665	CLIP-seq
MIRT1232816	hsa-miR-9	CLIP-seq
MIRT1232817	hsa-miR-219-5p	CLIP-seq
MIRT1232818	hsa-miR-29a	CLIP-seq
MIRT1232819	hsa-miR-29b	CLIP-seq
MIRT1232820	hsa-miR-29c	CLIP-seq
MIRT1232821	hsa-miR-3065-3p	CLIP-seq
MIRT1232822	hsa-miR-4445	CLIP-seq
MIRT1232823	hsa-miR-455-3p	CLIP-seq
MIRT1232824	hsa-miR-4782-3p	CLIP-seq
MIRT1232825	hsa-miR-508-3p	CLIP-seq
MIRT1232826	hsa-miR-639	CLIP-seq
MIRT1232827	hsa-miR-767-5p	CLIP-seq
MIRT2295671	hsa-miR-1228	CLIP-seq
MIRT2295672	hsa-miR-153	CLIP-seq
MIRT1232817	hsa-miR-219-5p	CLIP-seq
MIRT1232818	hsa-miR-29a	CLIP-seq
MIRT1232819	hsa-miR-29b	CLIP-seq
MIRT1232820	hsa-miR-29c	CLIP-seq
MIRT1232821	hsa-miR-3065-3p	CLIP-seq
MIRT1232822	hsa-miR-4445	CLIP-seq
MIRT1232823	hsa-miR-455-3p	CLIP-seq
MIRT1232824	hsa-miR-4782-3p	CLIP-seq
MIRT1232825	hsa-miR-508-3p	CLIP-seq
MIRT1232826	hsa-miR-639	CLIP-seq
MIRT1232827	hsa-miR-767-5p	CLIP-seq
MIRT2295671	hsa-miR-1228	CLIP-seq
MIRT2295672	hsa-miR-153	CLIP-seq
MIRT2439473	hsa-miR-1914	CLIP-seq
MIRT1232817	hsa-miR-219-5p	CLIP-seq
MIRT1232818	hsa-miR-29a	CLIP-seq
MIRT1232819	hsa-miR-29b	CLIP-seq
MIRT1232820	hsa-miR-29c	CLIP-seq
MIRT1232821	hsa-miR-3065-3p	CLIP-seq
MIRT1232822	hsa-miR-4445	CLIP-seq
MIRT1232824	hsa-miR-4782-3p	CLIP-seq
MIRT1232825	hsa-miR-508-3p	CLIP-seq
MIRT1232827	hsa-miR-767-5p	CLIP-seq
MIRT2295671	hsa-miR-1228	CLIP-seq
MIRT2295672	hsa-miR-153	CLIP-seq
MIRT1232804	hsa-miR-1913	CLIP-seq
MIRT2439473	hsa-miR-1914	CLIP-seq
MIRT2593472	hsa-miR-217	CLIP-seq
MIRT1232817	hsa-miR-219-5p	CLIP-seq
MIRT1232818	hsa-miR-29a	CLIP-seq
MIRT1232819	hsa-miR-29b	CLIP-seq
MIRT1232820	hsa-miR-29c	CLIP-seq
MIRT1232821	hsa-miR-3065-3p	CLIP-seq
MIRT1232805	hsa-miR-3189-5p	CLIP-seq
MIRT1232806	hsa-miR-3197	CLIP-seq
MIRT1232807	hsa-miR-324-3p	CLIP-seq
MIRT2593473	hsa-miR-4279	CLIP-seq
MIRT1232822	hsa-miR-4445	CLIP-seq
MIRT1232808	hsa-miR-4459	CLIP-seq
MIRT2593474	hsa-miR-4467	CLIP-seq
MIRT1232823	hsa-miR-455-3p	CLIP-seq
MIRT1232809	hsa-miR-4640-5p	CLIP-seq
MIRT2593475	hsa-miR-4650-5p	CLIP-seq
MIRT2593476	hsa-miR-4691-5p	CLIP-seq
MIRT1232810	hsa-miR-4695-5p	CLIP-seq
MIRT1232811	hsa-miR-4726-5p	CLIP-seq
MIRT2593477	hsa-miR-4757-5p	CLIP-seq
MIRT1232812	hsa-miR-4758-3p	CLIP-seq
MIRT1232824	hsa-miR-4782-3p	CLIP-seq
MIRT1232825	hsa-miR-508-3p	CLIP-seq
MIRT1232813	hsa-miR-604	CLIP-seq
MIRT1232826	hsa-miR-639	CLIP-seq
MIRT1232814	hsa-miR-662	CLIP-seq
MIRT1232815	hsa-miR-665	CLIP-seq
MIRT1232827	hsa-miR-767-5p	CLIP-seq
MIRT1232816	hsa-miR-9	CLIP-seq
MIRT2295671	hsa-miR-1228	CLIP-seq
MIRT2295672	hsa-miR-153	CLIP-seq
MIRT1232804	hsa-miR-1913	CLIP-seq
MIRT2439473	hsa-miR-1914	CLIP-seq
MIRT1232817	hsa-miR-219-5p	CLIP-seq
MIRT1232818	hsa-miR-29a	CLIP-seq
MIRT1232819	hsa-miR-29b	CLIP-seq
MIRT1232820	hsa-miR-29c	CLIP-seq
MIRT1232821	hsa-miR-3065-3p	CLIP-seq
MIRT1232805	hsa-miR-3189-5p	CLIP-seq
MIRT1232806	hsa-miR-3197	CLIP-seq
MIRT1232807	hsa-miR-324-3p	CLIP-seq
MIRT2593473	hsa-miR-4279	CLIP-seq
MIRT1232822	hsa-miR-4445	CLIP-seq
MIRT1232808	hsa-miR-4459	CLIP-seq
MIRT1232823	hsa-miR-455-3p	CLIP-seq
MIRT1232809	hsa-miR-4640-5p	CLIP-seq
MIRT2593475	hsa-miR-4650-5p	CLIP-seq
MIRT2593476	hsa-miR-4691-5p	CLIP-seq
MIRT1232810	hsa-miR-4695-5p	CLIP-seq
MIRT1232811	hsa-miR-4726-5p	CLIP-seq
MIRT2593477	hsa-miR-4757-5p	CLIP-seq
MIRT1232812	hsa-miR-4758-3p	CLIP-seq
MIRT1232824	hsa-miR-4782-3p	CLIP-seq
MIRT1232825	hsa-miR-508-3p	CLIP-seq
MIRT1232813	hsa-miR-604	CLIP-seq
MIRT1232826	hsa-miR-639	CLIP-seq
MIRT1232814	hsa-miR-662	CLIP-seq
MIRT1232815	hsa-miR-665	CLIP-seq
MIRT1232827	hsa-miR-767-5p	CLIP-seq
MIRT1232816	hsa-miR-9	CLIP-seq

Show/Hide all (31)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0004430	Function	1-phosphatidylinositol 4-kinase activity	IBA
GO:0004430	Function	1-phosphatidylinositol 4-kinase activity	IEA
GO:0004430	Function	1-phosphatidylinositol 4-kinase activity	ISS
GO:0004430	Function	1-phosphatidylinositol 4-kinase activity	TAS
GO:0005515	Function	Protein binding	IPI	14676841, 15607035, 21238945, 21297162, 23675303, 23935497, 25608530, 26571211
GO:0005524	Function	ATP binding	IEA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IDA	23229899
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	23229899
GO:0005886	Component	Plasma membrane	IEA
GO:0005925	Component	Focal adhesion	HDA	21423176
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006661	Process	Phosphatidylinositol biosynthetic process	TAS	7961848
GO:0007165	Process	Signal transduction	NAS	7961848
GO:0016020	Component	Membrane	HDA	19946888
GO:0016020	Component	Membrane	IEA
GO:0016301	Function	Kinase activity	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0030660	Component	Golgi-associated vesicle membrane	ISS
GO:0044788	Process	Host-mediated perturbation of viral process	IMP	19376974
GO:0045296	Function	Cadherin binding	HDA	25468996
GO:0046854	Process	Phosphatidylinositol phosphate biosynthetic process	IBA
GO:0046854	Process	Phosphatidylinositol phosphate biosynthetic process	IEA
GO:0046854	Process	Phosphatidylinositol phosphate biosynthetic process	ISS
GO:0048015	Process	Phosphatidylinositol-mediated signaling	IBA
GO:0070062	Component	Extracellular exosome	HDA	20458337
GO:0140754	Process	Reorganization of cellular membranes to establish viral sites of replication	IMP	19376974

MIM	HGNC	e!Ensembl
600286	8983	ENSG00000241973

P42356

Protein name

Phosphatidylinositol 4-kinase alpha (PI4-kinase alpha) (PI4K-alpha) (PtdIns-4-kinase alpha) (EC 2.7.1.67) (Phosphatidylinositol 4-Kinase III alpha)

Protein function

Acts on phosphatidylinositol (PtdIns) in the first committed step in the production of the second messenger inositol-1,4,5,-trisphosphate.

PDB

6BQ1 , 9B9G , 9BAX

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00613	PI3Ka	1562 → 1728	Phosphoinositide 3-kinase family, accessory domain (PIK domain)	Family
PF00454	PI3_PI4_kinase	1844 → 1914	Phosphatidylinositol 3- and 4-kinase	Family
PF00454	PI3_PI4_kinase	1907 → 2051	Phosphatidylinositol 3- and 4-kinase	Family

Tissue specificity

TISSUE SPECIFICITY: Expressed ubiquitously. Highest levels in placenta and brain. Little or no expression in lung, liver, pancreas, testis or leukocytes. {ECO:0000269|PubMed:10101268, ECO:0000269|PubMed:7961848}.

Sequence

MAAAPARGGGGGGGGGGGCSGSGSSASRGFYFNTVLSLARSLAVQRPASLEKVQKLLCMC
PVDFHGIFQLDERRRDAVIALGIFLIESDLQHKDCVVPYLLRLLKGLPKVYWVEESTARK
GRGALPVAESFSFCLVTLLSDVAYRDPSLRDEILEVLLQVLHVLLGMCQALEIQDKEYLC
KYAIPCLIGISRAFGRYSNMEESLLSKLFPKIPPHSLRVLEELEGVRRRSFNDFRSILPS
NLLTVCQEGTLKRKTSSVSSISQVSPERGMPPPSSPGGSAFHYFEASCLPDGTALEPEYY
FSTISSSFSVSPLFNGVTYKEFNIPLEMLRELLNLVKKIVEEAVLKSLDAIVASVMEANP
SADLYYTSFSDPLYLTMFKMLRDTLYYMKDLPTSFVKEIHDFVLEQFNTSQGELQKILHD
ADRIHNELSPLKLRCQANAACVDLMVWAVKDEQGAENLCIKLSEKLQSKTSSKVIIAHLP
LLICCLQGLGRLCERFPVVVHSVTPSLRDFLVIPSPVLVKLYKYHSQYHTVAGNDIKISV
TNEHSESTLNVMSGKKSQPSMYEQLRDIAIDNICRCLKAGLTVDPVIVEAFLASLSNRLY
ISQESDKDAHLIPDHTIRALGHIAVALRDTPKVMEPILQILQQKFCQPPSPLDVLIIDQL
GCLVITGNQYIYQEVWNLFQQISVKASSVVYSATKDYKDHGYRHCSLAVINALANIAANI
QDEHLVDELLMNLLELFVQLGLEGKRASERASEKGPALKASSSAGNLGVLIPVIAVLTRR
LPPIKEAKPRLQKLFRDFWLYSVLMGFAVEGSGLWPEEWYEGVCEIATKSPLLTFPSKEP
LRSVLQYNSAMKNDTVTPAELSELRSTIINLLDPPPEVSALINKLDFAMSTYLLSVYRLE
YMRVLRSTDPDRFQVMFCYFEDKAIQKDKSGMMQCVIAVADKVFDAFLNMMADKAKTKEN
EEELERHAQFLLVNFNHIHKRIRRVADKYLSGLVDKFPHLLWSGTVLKTMLDILQTLSLS
LSADIHKDQPYYDIPDAPYRITVPDTYEARESIVKDFAARCGMILQEAMKWAPTVTKSHL
QEYLNKHQNWVSGLSQHTGLAMATESILHFAGYNKQNTTLGATQLSERPACVKKDYSNFM
ASLNLRNRYAGEVYGMIRFSGTTGQMSDLNKMMVQDLHSALDRSHPQHYTQAMFKLTAML
ISSKDCDPQLLHHLCWGPLRMFNEHGMETALACWEWLLAGKDGVEVPFMREMAGAWHMTV
EQKFGLFSAEIKEADPLAASEASQPKPCPPEVTPHYIWIDFLVQRFEIAKYCSSDQVEIF
SSLLQRSMSLNIGGAKGSMNRHVAAIGPRFKLLTLGLSLLHADVVPNATIRNVLREKIYS
TAFDYFSCPPKFPTQGEKRLREDISIMIKFWTAMFSDKKYLTASQLVPPDNQDTRSNLDI
TVGSRQQATQGWINTYPLSSGMSTISKKSGMSKKTNRGSQLHKYYMKRRTLLLSLLATEI
ERLITWYNPLSAPELELDQAGENSVANWRSKYISLSEKQWKDNVNLAWSISPYLAVQLPA
RFKNTEAIGNEVTRLVRLDPGAVSDVPEAIKFLVTWHTIDADAPELSHVLCWAPTDPPTG
LSYFSSMYPPHPLTAQYGVKVLRSFPPDAILFYIPQIVQALRYDKMGYVREYILWAASKS
QLLAHQFIWNMKTNIYLDEEGHQKDPDIGDLLDQLVEEITGSLSGPAKDFYQREFDFFNK
ITNVSAIIKPYPKGDERKKACLSALSEVKVQPGCYLPSNPEAIVLDIDYKSGTPMQSAAK
APYLAKFKVKRCGVSELEKEGLRCRSDSEDECSTQEADGQKISWQAAIFKVGDDCRQDML
ALQIIDLFKNIFQLVGLDLFVFPYRVVATAPGCGVIECIPDCTSRDQLGRQTDFGMYDYF
TRQYGDESTLAFQQARYNFIRSMAAYSLLLFLLQIKDRHNGNIMLDKKGHIIHIDFGFMF
ESSPGGNLGWEPDIKLTDEMVMIMGGKMEATPFKWFMEMCVRGYLAVRPYMDAVVSLVTL
MLDTGLPCFRGQTIKLLKHRFSPNMTEREAANFIMKVIQSCFLSNRSRTYDMIQYYQNDI
PY

Sequence length

2102

Interactions

View interactions

	KEGG		Reactome
	Inositol phosphate metabolism Metabolic pathways Phosphatidylinositol signaling system		Synthesis of PIPs at the ER membrane Synthesis of PIPs at the Golgi membrane

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)

Show/Hide Causal Diseases (5)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Gastrointestinal defects and immunodeficiency syndrome 2	Pathogenic; Likely pathogenic	rs776650691, rs201395198	RCV001822068 RCV005361986	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Phenylketonuria	Likely pathogenic	rs201395198	RCV003164309	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
PI4KA-related disorder	Likely pathogenic; Pathogenic	rs201395198, rs2518145912, rs762036318, rs779656809, rs1202099178, rs2518048241	RCV004533974 RCV002291384 RCV004529148 RCV004529626 RCV004534375 RCV004528755 View all (1 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis	Likely pathogenic; Pathogenic	rs767451281, rs144933467, rs747391554, rs1351749039, rs1929601378, rs139598272, rs2147171210, rs1419816068, rs1490645147, rs2147287553, rs2147164417, rs201395198, rs2518027388, rs777006911, rs747119727, rs1932452329, rs775166339 View all (2 more)	RCV004598385 RCV001336863 RCV001785408 RCV001785409 RCV001785410 View all (12 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Spastic paraplegia 84, autosomal recessive	Pathogenic; Likely pathogenic	rs139598272, rs1925715512, rs2147194890, rs201395198	RCV001785412 RCV001785413 RCV001785415 RCV002221703	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (23)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Acute myeloid leukemia	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 84	—	Disgenet, Orphanet Disgenet, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BILATERAL PERISYLVIAN POLYMICROGYRIA	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMBINED IMMUNODEFICIENCY, ENTEROPATHY SPECTRUM	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMBINED IMMUNODEFICIENCY-MULTIPLE INTESTINAL ATRESIA	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEEP VEIN THROMBOSIS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEPARIN COFACTOR II DEFICIENCY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Long QT syndrome	Uncertain significance	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, HYPOMYELINATING LEUKODYSTROPHY, AND BRAIN ABNORMALITIES	—	Disgenet, HPO Disgenet, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERISYLVIAN SYNDROME	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TUBEROUS SCLEROSIS 1	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 1 DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ 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
Uveal melanoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (56)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
22q11 partial monosomy syndrome	22q11 partial monosomy syndrome	BEFREE	17893707		★★★★★ ★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	24077433	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	BEFREE	29386109		★★★★★ ★☆☆☆☆ Found in Text Mining only
Arthrogryposis	Arthrogryposis multiplex congenita	BEFREE	25855803		★★★★★ ★☆☆☆☆ Found in Text Mining only
Arthrogryposis	Arthrogryposis	Pubtator	25855803	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Arthrogryposis	Arthrogryposis multiplex congenita	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorder	Autism	Pubtator	31500805	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Bilateral perisylvian polymicrogyria	Perisylvian Polymicrogyria	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bone Neoplasms	Bone neoplasm	Pubtator	37996444	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Brain Diseases	Brain disease	Pubtator	34415322	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	24393405	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebellar Hypoplasia	Cerebellar Hypoplasia	BEFREE	25855803		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebellar Hypoplasia	Cerebellar hypoplasia	Pubtator	25855803	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebellar Hypoplasia	Cerebellar Hypoplasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome	CEDNIK Syndrome	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Chromosome 22q11.2 Microduplication Syndrome	Chromosome 22q11.2 microduplication syndrome	Pubtator	30614210	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital clubfoot	Congenital Clubfoot	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Demyelinating Diseases	Demyelinating diseases	Pubtator	34415322	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	35880319	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diarrhea	Diarrhea	Pubtator	36341355	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
DiGeorge Syndrome	Digeorge syndrome	Pubtator	18646052, 29925309, 36869225	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Heparin cofactor II deficiency (disorder)	Heparin cofactor II deficiency	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypersensitivity Delayed	Hypersensitivity	Pubtator	34415322	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Immune System Diseases	Immune system disease	Pubtator	34415322	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory bowel disease	Pubtator	34415310, 35880319	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	24253858, 34415322	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Intestinal Atresia Multiple	Multiple intestinal atresia	Pubtator	34415310, 36341355	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Intestinal Diseases	Intestinal disease	Pubtator	34415310, 36341355	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Intestinal Neoplasms	Intestinal neoplasm	Pubtator	36341355	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukodystrophy Metachromatic	Metachromatic leukodystrophy	Pubtator	35880319	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukodystrophy, Hypomyelinating, 2	Leukodystrophy	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	24393405		★★★★★ ★☆☆☆☆ Found in Text Mining only
Long narrow head	Dolichocephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	30111818		★★★★★ ★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	Pubtator	21652733	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Mental disorders	Mental Disorders	BEFREE	12497619		★★★★★ ★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic syndrome	Pubtator	34415322	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	24393405		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	24077433	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	35982909	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Paraplegia	Paraplegia	Pubtator	34415322	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Perisylvian syndrome	Perisylvian Syndrome	ORPHANET_DG	25855803		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Polymicrogyria	Polymicrogyria	BEFREE	25855803		★★★★★ ★☆☆☆☆ Found in Text Mining only
Polymicrogyria	Polymicrogyria	Pubtator	25855803	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Polymicrogyria	Polymicrogyria	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
POLYMICROGYRIA, PERISYLVIAN, WITH CEREBELLAR HYPOPLASIA AND ARTHROGRYPOSIS	Polymicrogyria, Perisylvian, With Cerebellar Hypoplasia And Arthrogryposis	UNIPROT_DG	25855803		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
POLYMICROGYRIA, PERISYLVIAN, WITH CEREBELLAR HYPOPLASIA AND ARTHROGRYPOSIS	Polymicrogyria, Perisylvian, With Cerebellar Hypoplasia And Arthrogryposis	GENOMICS_ENGLAND_DG	25855803		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
POLYMICROGYRIA, PERISYLVIAN, WITH CEREBELLAR HYPOPLASIA AND ARTHROGRYPOSIS	Polymicrogyria, Perisylvian, With Cerebellar Hypoplasia And Arthrogryposis	CLINVAR_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Prostate carcinoma	Prostate cancer	BEFREE	30111818		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	37996444	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	17893707, 18521859, 18646052		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	PSYGENET_DG	17893707, 18521859, 18646052, 25209194		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	Pubtator	18646052, 31500805	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sepsis	Sepsis	Pubtator	36341355	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Urogenital Neoplasms	Urogenital neoplasm	Pubtator	34415322	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

PI4KA (phosphatidylinositol 4-kinase alpha)