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

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	1119
Gene name	Choline kinase alpha
Gene symbol	CHKA
Synonyms (NCBI Gene)	CHKCKCKIEKNEDMIMS
Chromosome	11
Chromosome location	11q13.2
Summary	The major pathway for the biosynthesis of phosphatidylcholine occurs via the CDP-choline pathway. The protein encoded by this gene is the initial enzyme in the sequence and may play a regulatory role. The encoded protein also catalyzes the phosphorylation

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miRTarBase ID	miRNA	Experiments
MIRT890114	hsa-miR-1272	CLIP-seq
MIRT890115	hsa-miR-1299	CLIP-seq
MIRT890116	hsa-miR-136	CLIP-seq
MIRT890117	hsa-miR-150	CLIP-seq
MIRT890118	hsa-miR-188-3p	CLIP-seq
MIRT890119	hsa-miR-199a-3p	CLIP-seq
MIRT890120	hsa-miR-199b-3p	CLIP-seq
MIRT890121	hsa-miR-2467-3p	CLIP-seq
MIRT890122	hsa-miR-2964a-5p	CLIP-seq
MIRT890123	hsa-miR-3129-5p	CLIP-seq
MIRT890124	hsa-miR-3174	CLIP-seq
MIRT890125	hsa-miR-3612	CLIP-seq
MIRT890126	hsa-miR-3682-3p	CLIP-seq
MIRT890127	hsa-miR-374c	CLIP-seq
MIRT890128	hsa-miR-3919	CLIP-seq
MIRT890129	hsa-miR-4438	CLIP-seq
MIRT890130	hsa-miR-4443	CLIP-seq
MIRT890131	hsa-miR-4514	CLIP-seq
MIRT890132	hsa-miR-4643	CLIP-seq
MIRT890133	hsa-miR-4645-5p	CLIP-seq
MIRT890134	hsa-miR-466	CLIP-seq
MIRT890135	hsa-miR-4673	CLIP-seq
MIRT890136	hsa-miR-4688	CLIP-seq
MIRT890137	hsa-miR-4692	CLIP-seq
MIRT890138	hsa-miR-4711-5p	CLIP-seq
MIRT890139	hsa-miR-4713-5p	CLIP-seq
MIRT890140	hsa-miR-4717-5p	CLIP-seq
MIRT890141	hsa-miR-4756-3p	CLIP-seq
MIRT890142	hsa-miR-4758-3p	CLIP-seq
MIRT890143	hsa-miR-4782-5p	CLIP-seq
MIRT890144	hsa-miR-4789-3p	CLIP-seq
MIRT890145	hsa-miR-485-3p	CLIP-seq
MIRT890146	hsa-miR-487a	CLIP-seq
MIRT890147	hsa-miR-5095	CLIP-seq
MIRT890148	hsa-miR-516b	CLIP-seq
MIRT890149	hsa-miR-532-3p	CLIP-seq
MIRT890150	hsa-miR-626	CLIP-seq
MIRT890151	hsa-miR-650	CLIP-seq
MIRT890152	hsa-miR-655	CLIP-seq
MIRT890153	hsa-miR-759	CLIP-seq
MIRT890154	hsa-miR-921	CLIP-seq
MIRT890155	hsa-miR-936	CLIP-seq
MIRT890156	hsa-miR-103a	CLIP-seq
MIRT890157	hsa-miR-107	CLIP-seq
MIRT890158	hsa-miR-1270	CLIP-seq
MIRT890159	hsa-miR-1273	CLIP-seq
MIRT890115	hsa-miR-1299	CLIP-seq
MIRT890160	hsa-miR-1301	CLIP-seq
MIRT890161	hsa-miR-134	CLIP-seq
MIRT890162	hsa-miR-1825	CLIP-seq
MIRT890163	hsa-miR-1915	CLIP-seq
MIRT890164	hsa-miR-199a-5p	CLIP-seq
MIRT890165	hsa-miR-199b-5p	CLIP-seq
MIRT890121	hsa-miR-2467-3p	CLIP-seq
MIRT890166	hsa-miR-3118	CLIP-seq
MIRT890125	hsa-miR-3612	CLIP-seq
MIRT890167	hsa-miR-432	CLIP-seq
MIRT890168	hsa-miR-4434	CLIP-seq
MIRT890130	hsa-miR-4443	CLIP-seq
MIRT890131	hsa-miR-4514	CLIP-seq
MIRT890169	hsa-miR-4516	CLIP-seq
MIRT890170	hsa-miR-4519	CLIP-seq
MIRT890171	hsa-miR-4531	CLIP-seq
MIRT890172	hsa-miR-455-3p	CLIP-seq
MIRT890133	hsa-miR-4645-5p	CLIP-seq
MIRT890135	hsa-miR-4673	CLIP-seq
MIRT890136	hsa-miR-4688	CLIP-seq
MIRT890137	hsa-miR-4692	CLIP-seq
MIRT890138	hsa-miR-4711-5p	CLIP-seq
MIRT890140	hsa-miR-4717-5p	CLIP-seq
MIRT890143	hsa-miR-4782-5p	CLIP-seq
MIRT890173	hsa-miR-5047	CLIP-seq
MIRT890148	hsa-miR-516b	CLIP-seq
MIRT890174	hsa-miR-548ag	CLIP-seq
MIRT890175	hsa-miR-548ai	CLIP-seq
MIRT890176	hsa-miR-548m	CLIP-seq
MIRT890177	hsa-miR-589	CLIP-seq
MIRT890178	hsa-miR-620	CLIP-seq
MIRT890151	hsa-miR-650	CLIP-seq
MIRT890179	hsa-miR-873	CLIP-seq
MIRT1922663	hsa-miR-4302	CLIP-seq
MIRT1922664	hsa-miR-4738-3p	CLIP-seq
MIRT1963731	hsa-miR-1251	CLIP-seq
MIRT890163	hsa-miR-1915	CLIP-seq
MIRT1963732	hsa-miR-203	CLIP-seq
MIRT1963733	hsa-miR-224	CLIP-seq
MIRT1963734	hsa-miR-27a	CLIP-seq
MIRT1963735	hsa-miR-27b	CLIP-seq
MIRT1963736	hsa-miR-3713	CLIP-seq
MIRT1963737	hsa-miR-4297	CLIP-seq
MIRT890168	hsa-miR-4434	CLIP-seq
MIRT1963738	hsa-miR-4467	CLIP-seq
MIRT890169	hsa-miR-4516	CLIP-seq
MIRT1963739	hsa-miR-4684-5p	CLIP-seq
MIRT1963740	hsa-miR-4717-3p	CLIP-seq
MIRT1963741	hsa-miR-4777-5p	CLIP-seq
MIRT1963742	hsa-miR-4796-5p	CLIP-seq
MIRT1963743	hsa-miR-520a-5p	CLIP-seq
MIRT1963744	hsa-miR-525-5p	CLIP-seq
MIRT1963745	hsa-miR-532-5p	CLIP-seq
MIRT1963746	hsa-miR-604	CLIP-seq
MIRT890150	hsa-miR-626	CLIP-seq
MIRT1963747	hsa-miR-647	CLIP-seq
MIRT1963748	hsa-miR-767-3p	CLIP-seq
MIRT1963749	hsa-miR-942	CLIP-seq
MIRT890156	hsa-miR-103a	CLIP-seq
MIRT890157	hsa-miR-107	CLIP-seq
MIRT890160	hsa-miR-1301	CLIP-seq
MIRT890116	hsa-miR-136	CLIP-seq
MIRT2200045	hsa-miR-1976	CLIP-seq
MIRT890119	hsa-miR-199a-3p	CLIP-seq
MIRT890120	hsa-miR-199b-3p	CLIP-seq
MIRT1963733	hsa-miR-224	CLIP-seq
MIRT2200046	hsa-miR-2278	CLIP-seq
MIRT890121	hsa-miR-2467-3p	CLIP-seq
MIRT1963734	hsa-miR-27a	CLIP-seq
MIRT1963735	hsa-miR-27b	CLIP-seq
MIRT2200047	hsa-miR-3064-3p	CLIP-seq
MIRT2200048	hsa-miR-3120-5p	CLIP-seq
MIRT890123	hsa-miR-3129-5p	CLIP-seq
MIRT2200049	hsa-miR-3130-3p	CLIP-seq
MIRT890124	hsa-miR-3174	CLIP-seq
MIRT2200050	hsa-miR-3175	CLIP-seq
MIRT2200051	hsa-miR-3200-3p	CLIP-seq
MIRT2200052	hsa-miR-346	CLIP-seq
MIRT2200053	hsa-miR-3616-3p	CLIP-seq
MIRT2200054	hsa-miR-3680	CLIP-seq
MIRT2200055	hsa-miR-3689a-3p	CLIP-seq
MIRT2200056	hsa-miR-3689c	CLIP-seq
MIRT890127	hsa-miR-374c	CLIP-seq
MIRT2200057	hsa-miR-3973	CLIP-seq
MIRT2200058	hsa-miR-4288	CLIP-seq
MIRT2200059	hsa-miR-4325	CLIP-seq
MIRT2200060	hsa-miR-4433	CLIP-seq
MIRT890168	hsa-miR-4434	CLIP-seq
MIRT2200061	hsa-miR-4436b-3p	CLIP-seq
MIRT2200062	hsa-miR-4454	CLIP-seq
MIRT2200063	hsa-miR-4459	CLIP-seq
MIRT2200064	hsa-miR-4468	CLIP-seq
MIRT890131	hsa-miR-4514	CLIP-seq
MIRT890169	hsa-miR-4516	CLIP-seq
MIRT890170	hsa-miR-4519	CLIP-seq
MIRT890132	hsa-miR-4643	CLIP-seq
MIRT890133	hsa-miR-4645-5p	CLIP-seq
MIRT890134	hsa-miR-466	CLIP-seq
MIRT2200065	hsa-miR-4661-3p	CLIP-seq
MIRT890135	hsa-miR-4673	CLIP-seq
MIRT2200066	hsa-miR-4687-3p	CLIP-seq
MIRT890137	hsa-miR-4692	CLIP-seq
MIRT1963740	hsa-miR-4717-3p	CLIP-seq
MIRT2200067	hsa-miR-4722-3p	CLIP-seq
MIRT2200068	hsa-miR-4722-5p	CLIP-seq
MIRT2200069	hsa-miR-4768-3p	CLIP-seq
MIRT890144	hsa-miR-4789-3p	CLIP-seq
MIRT2200070	hsa-miR-4793-3p	CLIP-seq
MIRT2200071	hsa-miR-4798-3p	CLIP-seq
MIRT890145	hsa-miR-485-3p	CLIP-seq
MIRT890146	hsa-miR-487a	CLIP-seq
MIRT890173	hsa-miR-5047	CLIP-seq
MIRT2200072	hsa-miR-508-5p	CLIP-seq
MIRT2200073	hsa-miR-513a-5p	CLIP-seq
MIRT2200074	hsa-miR-548k	CLIP-seq
MIRT890150	hsa-miR-626	CLIP-seq
MIRT2200075	hsa-miR-632	CLIP-seq
MIRT890152	hsa-miR-655	CLIP-seq
MIRT890154	hsa-miR-921	CLIP-seq
MIRT890155	hsa-miR-936	CLIP-seq
MIRT2386021	hsa-miR-25	CLIP-seq
MIRT2386022	hsa-miR-32	CLIP-seq
MIRT2386023	hsa-miR-363	CLIP-seq
MIRT2386024	hsa-miR-367	CLIP-seq
MIRT2200059	hsa-miR-4325	CLIP-seq
MIRT2386025	hsa-miR-4684-3p	CLIP-seq
MIRT2386026	hsa-miR-92a	CLIP-seq
MIRT2386027	hsa-miR-92b	CLIP-seq
MIRT2502812	hsa-miR-1178	CLIP-seq
MIRT2502813	hsa-miR-1204	CLIP-seq
MIRT2502814	hsa-miR-1207-5p	CLIP-seq
MIRT890159	hsa-miR-1273	CLIP-seq
MIRT2502815	hsa-miR-1283	CLIP-seq
MIRT2502816	hsa-miR-1909	CLIP-seq
MIRT2502817	hsa-miR-1913	CLIP-seq
MIRT1963733	hsa-miR-224	CLIP-seq
MIRT2200048	hsa-miR-3120-5p	CLIP-seq
MIRT2200049	hsa-miR-3130-3p	CLIP-seq
MIRT2200050	hsa-miR-3175	CLIP-seq
MIRT2502818	hsa-miR-3189-3p	CLIP-seq
MIRT2502819	hsa-miR-3202	CLIP-seq
MIRT2502820	hsa-miR-324-3p	CLIP-seq
MIRT2200052	hsa-miR-346	CLIP-seq
MIRT2502821	hsa-miR-3614-5p	CLIP-seq
MIRT2502822	hsa-miR-3663-3p	CLIP-seq
MIRT2200055	hsa-miR-3689a-3p	CLIP-seq
MIRT2200056	hsa-miR-3689c	CLIP-seq
MIRT2200058	hsa-miR-4288	CLIP-seq
MIRT2502823	hsa-miR-4313	CLIP-seq
MIRT2200060	hsa-miR-4433	CLIP-seq
MIRT890168	hsa-miR-4434	CLIP-seq
MIRT2200061	hsa-miR-4436b-3p	CLIP-seq
MIRT2200063	hsa-miR-4459	CLIP-seq
MIRT2502824	hsa-miR-4476	CLIP-seq
MIRT890169	hsa-miR-4516	CLIP-seq
MIRT2200066	hsa-miR-4687-3p	CLIP-seq
MIRT2502825	hsa-miR-4701-5p	CLIP-seq
MIRT1963740	hsa-miR-4717-3p	CLIP-seq
MIRT2502826	hsa-miR-4763-3p	CLIP-seq
MIRT2200069	hsa-miR-4768-3p	CLIP-seq
MIRT2502827	hsa-miR-4780	CLIP-seq
MIRT2200070	hsa-miR-4793-3p	CLIP-seq
MIRT1963742	hsa-miR-4796-5p	CLIP-seq
MIRT2502828	hsa-miR-588	CLIP-seq
MIRT2502829	hsa-miR-623	CLIP-seq
MIRT890150	hsa-miR-626	CLIP-seq
MIRT2200075	hsa-miR-632	CLIP-seq
MIRT1963748	hsa-miR-767-3p	CLIP-seq
MIRT2502812	hsa-miR-1178	CLIP-seq
MIRT2502813	hsa-miR-1204	CLIP-seq
MIRT2502814	hsa-miR-1207-5p	CLIP-seq
MIRT2678091	hsa-miR-1226	CLIP-seq
MIRT890159	hsa-miR-1273	CLIP-seq
MIRT2678092	hsa-miR-128	CLIP-seq
MIRT2502815	hsa-miR-1283	CLIP-seq
MIRT2678093	hsa-miR-181a	CLIP-seq
MIRT2678094	hsa-miR-181b	CLIP-seq
MIRT2678095	hsa-miR-181c	CLIP-seq
MIRT2678096	hsa-miR-181d	CLIP-seq
MIRT2502816	hsa-miR-1909	CLIP-seq
MIRT2502817	hsa-miR-1913	CLIP-seq
MIRT2678097	hsa-miR-197	CLIP-seq
MIRT890119	hsa-miR-199a-3p	CLIP-seq
MIRT890120	hsa-miR-199b-3p	CLIP-seq
MIRT1963733	hsa-miR-224	CLIP-seq
MIRT1963734	hsa-miR-27a	CLIP-seq
MIRT1963735	hsa-miR-27b	CLIP-seq
MIRT890122	hsa-miR-2964a-5p	CLIP-seq
MIRT2200047	hsa-miR-3064-3p	CLIP-seq
MIRT2200048	hsa-miR-3120-5p	CLIP-seq
MIRT890123	hsa-miR-3129-5p	CLIP-seq
MIRT2200049	hsa-miR-3130-3p	CLIP-seq
MIRT2678098	hsa-miR-3144-5p	CLIP-seq
MIRT2200050	hsa-miR-3175	CLIP-seq
MIRT2502818	hsa-miR-3189-3p	CLIP-seq
MIRT2502819	hsa-miR-3202	CLIP-seq
MIRT2502820	hsa-miR-324-3p	CLIP-seq
MIRT2200052	hsa-miR-346	CLIP-seq
MIRT2502821	hsa-miR-3614-5p	CLIP-seq
MIRT2502822	hsa-miR-3663-3p	CLIP-seq
MIRT2200055	hsa-miR-3689a-3p	CLIP-seq
MIRT2200056	hsa-miR-3689c	CLIP-seq
MIRT2678099	hsa-miR-4255	CLIP-seq
MIRT2678100	hsa-miR-4262	CLIP-seq
MIRT2200058	hsa-miR-4288	CLIP-seq
MIRT2502823	hsa-miR-4313	CLIP-seq
MIRT2200060	hsa-miR-4433	CLIP-seq
MIRT890168	hsa-miR-4434	CLIP-seq
MIRT2200061	hsa-miR-4436b-3p	CLIP-seq
MIRT2200063	hsa-miR-4459	CLIP-seq
MIRT2502824	hsa-miR-4476	CLIP-seq
MIRT890169	hsa-miR-4516	CLIP-seq
MIRT2200066	hsa-miR-4687-3p	CLIP-seq
MIRT890136	hsa-miR-4688	CLIP-seq
MIRT2502825	hsa-miR-4701-5p	CLIP-seq
MIRT890138	hsa-miR-4711-5p	CLIP-seq
MIRT1963740	hsa-miR-4717-3p	CLIP-seq
MIRT2678101	hsa-miR-4733-3p	CLIP-seq
MIRT2502826	hsa-miR-4763-3p	CLIP-seq
MIRT2200069	hsa-miR-4768-3p	CLIP-seq
MIRT2502827	hsa-miR-4780	CLIP-seq
MIRT2200070	hsa-miR-4793-3p	CLIP-seq
MIRT1963742	hsa-miR-4796-5p	CLIP-seq
MIRT890174	hsa-miR-548ag	CLIP-seq
MIRT890175	hsa-miR-548ai	CLIP-seq
MIRT890176	hsa-miR-548m	CLIP-seq
MIRT2502828	hsa-miR-588	CLIP-seq
MIRT2502829	hsa-miR-623	CLIP-seq
MIRT890150	hsa-miR-626	CLIP-seq
MIRT2200075	hsa-miR-632	CLIP-seq
MIRT2678102	hsa-miR-634	CLIP-seq
MIRT1963748	hsa-miR-767-3p	CLIP-seq
MIRT890179	hsa-miR-873	CLIP-seq

Show/Hide all (40)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0004103	Function	Choline kinase activity	IBA
GO:0004103	Function	Choline kinase activity	IDA	19915674, 23416529, 34077757
GO:0004103	Function	Choline kinase activity	IEA
GO:0004103	Function	Choline kinase activity	TAS	10363580
GO:0004104	Function	Cholinesterase activity	IEA
GO:0004305	Function	Ethanolamine kinase activity	IBA
GO:0004305	Function	Ethanolamine kinase activity	IDA	19915674
GO:0004305	Function	Ethanolamine kinase activity	IEA
GO:0004713	Function	Protein tyrosine kinase activity	IDA	34077757
GO:0004713	Function	Protein tyrosine kinase activity	IEA
GO:0005515	Function	Protein binding	IDA	34077757
GO:0005524	Function	ATP binding	IEA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005811	Component	Lipid droplet	IDA	34077757
GO:0005811	Component	Lipid droplet	IEA
GO:0005829	Component	Cytosol	IDA	19915674, 34077757
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006629	Process	Lipid metabolic process	TAS	10363580
GO:0006646	Process	Phosphatidylethanolamine biosynthetic process	IBA
GO:0006646	Process	Phosphatidylethanolamine biosynthetic process	IDA	19915674
GO:0006646	Process	Phosphatidylethanolamine biosynthetic process	IDA	19915674
GO:0006646	Process	Phosphatidylethanolamine biosynthetic process	IEA
GO:0006656	Process	Phosphatidylcholine biosynthetic process	IDA	10480912, 10893425, 34077757
GO:0006656	Process	Phosphatidylcholine biosynthetic process	IDA	19915674, 23416529, 34077757
GO:0006656	Process	Phosphatidylcholine biosynthetic process	IEA
GO:0006656	Process	Phosphatidylcholine biosynthetic process	IEA
GO:0006657	Process	CDP-choline pathway	IBA
GO:0006657	Process	CDP-choline pathway	IEA
GO:0006869	Process	Lipid transport	TAS	10363580
GO:0008654	Process	Phospholipid biosynthetic process	IEA
GO:0016301	Function	Kinase activity	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0042149	Process	Cellular response to glucose starvation	IDA	34077757
GO:0042802	Function	Identical protein binding	IEA
GO:0042803	Function	Protein homodimerization activity	IDA	34077757
GO:1905691	Process	Lipid droplet disassembly	IDA	34077757

MIM	HGNC	e!Ensembl
118491	1937	ENSG00000110721

P35790

Protein name

Choline kinase alpha (CK) (EC 2.7.1.32) (CHETK-alpha) (Ethanolamine kinase) (EK) (EC 2.7.1.82)

Protein function

Plays a key role in phospholipid biosynthesis by catalyzing the phosphorylation of free choline to phosphocholine, the first step in phosphatidylcholine biosynthesis (PubMed:17007874, PubMed:19915674, PubMed:23416529, PubMed:34077757). Also phos

PDB

2CKO , 2CKP , 2CKQ , 2I7Q , 3F2R , 3G15 , 3ZM9 , 4BR3 , 4CG8 , 4CG9 , 4CGA , 4DA5 , 5AFV , 5EQE , 5EQP , 5EQY , 5FTG , 5FUT , 5W6O , 7A04 , 7A06 , 7NB1 , 7NB2 , 7NB3 , 8BI5 , 8BI6

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01633	Choline_kinase	139 → 374		Family

Sequence

MKTKFCTGGEAEPSPLGLLLSCGSGSAAPAPGVGQQRDAASDLESKQLGGQQPPLALPPP
PPLPLPLPLPQPPPPQPPADEQPEPRTRRRAYLWCKEFLPGAWRGLREDEFHISVIRGGL
SNMLFQCSLPDTTATLGDEPRKVLLRLYGAILQMRSCNKEGSEQAQKENEFQGAEAMVLE
SVMFAILAERSLGPKLYGIFPQGRLEQFIPSRRLDTEELSLPDISAEIAEKMATFHGMKM
PFNKEPKWLFGTMEKYLKEVLRIKFTEESRIKKLHKLLSYNLPLELENLRSLLESTPSPV
VFCHNDCQEGNILLLEGRENSEKQKLMLIDFEYSSYNYRGFDIGNHFCEWMYDYSYEKYP
FFRANIRKYPTKKQQLHFISSYLPAFQNDFENLSTEEKSIIKEEMLLEVNRFALASHFLW
GLWSIVQAKISSIEFGYMDYAQARFDAYFHQKRKLGV

Sequence length

457

Interactions

View interactions

	KEGG		Reactome
	Glycerophospholipid metabolism Metabolic pathways Choline metabolism in cancer		Synthesis of PC Synthesis of PE

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 (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Microcephaly	Likely pathogenic	rs765529707, rs763056271, rs2153034844, rs2134518071	RCV001785382 RCV001785383 RCV001785384 RCV001785385	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodevelopmental disorder with microcephaly, movement abnormalities, and seizures	Likely pathogenic	rs765529707, rs763056271, rs2153034844, rs2134518071	RCV002280827 RCV002280828 RCV002280829 RCV002280830	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Seizure	Likely pathogenic	rs765529707, rs763056271, rs2153034844, rs2134518071	RCV001785382 RCV001785383 RCV001785384 RCV001785385	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Severe intellectual disability	Likely pathogenic	rs765529707, rs763056271, rs2153034844, rs2134518071	RCV001785382 RCV001785383 RCV001785384 RCV001785385	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (2)

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.
AUTOSOMAL RECESSIVE NON-SYNDROMIC INTELLECTUAL DISABILITY	—	Disgenet, Orphanet Disgenet, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (73)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	26769123		★★★★★ ★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain neoplasms	Pubtator	37011206	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	15205341, 15374991, 16322253, 17236204, 18056454, 19016452, 19336572, 20623626, 21822308, 24556997, 26061164, 28644842, 30653109		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	20623626, 21822308, 23917378, 24556997, 25028471, 26496360, 28644842, 37848481	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	21822308, 26807725	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	23071593, 25503443, 25672227	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	17851129, 22515519, 25591716		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Ovarian Epithelial	Epithelial ovarian carcinoma	Pubtator	24281000, 33390181	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	11710944	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma, Basal Cell	Carcinoma	BEFREE	28644842		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	20179205, 24281000, 25796169, 30029471		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	23762272		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic Neoplasms	BEFREE	23762272		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	23762272, 27556502		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	LHGDN	12176020		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	BEFREE	23762272		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	27556502	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital muscular dystrophy (disorder)	Congenital muscular dystrophy	BEFREE	21750112		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dermatomyositis	Dermatomyositis	Pubtator	33305541	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	24595071	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Epithelial ovarian cancer	Ovarian cancer	BEFREE	20179205, 24281000, 25796169, 30029471		★★★★★ ★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty Liver	BEFREE	28973659		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	27705917, 37011206	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	31817833		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	39778250	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic Neoplasms	BEFREE	25768400		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hepatitis B	Hepatitis b	Pubtator	25672227	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hepatoblastoma	Hepatoblastoma	Pubtator	32240714	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	22025560	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	11301189	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	22972156, 23071593, 25672227, 28065789		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	21489244, 25591716, 27612029	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	BEFREE	25591716		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	27556502	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	15205341, 15374991, 16322253, 17236204, 18056454, 19016452, 19336572, 20623626, 21822308, 24556997, 26061164, 28644842, 30653109		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	17851129, 22515519, 25591716		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	24281000, 25796169		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	17088984		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	18172309, 23562839, 26657335, 28167510, 29138500		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	15374991, 16322253, 16719778, 18296102, 20651826, 20958072, 21841818, 22279038, 22429312, 22972156, 25125257, 27556502, 27769579, 29229598, 29389115 View all (4 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	23762272		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	LHGDN	12082619		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	15374991, 20958072, 28157707		★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	37938654	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy	Muscular dystrophy	BEFREE	20651826, 27769579		★★★★★ ★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy, Congenital, Megaconial Type	Congenital Muscular Dystrophy	BEFREE	31216357		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial infarction	Pubtator	22140461	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	20042122, 21822308, 22279038, 22429312, 22515519, 23071593, 23762272, 25768400, 26390971, 26530913, 26657335, 26769123, 27073147, 27381438, 28065789		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	18292939, 30629659		★★★★★ ★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	17851129, 22515519		★★★★★ ★☆☆☆☆ Found in Text Mining only
Oestrogen receptor positive breast cancer	Oestrogen Receptor Positive Breast Cancer	BEFREE	18056454		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Carcinoma	Ovarian Carcinoma	BEFREE	25796169		★★★★★ ★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	24281000		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	24281000, 33390181, 36192391	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	17088984		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Ductal Adenocarcinoma	Pancreatic adenocarcinoma	BEFREE	26769123		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasm	Pancreatic Neoplasm	BEFREE	26769123		★★★★★ ★☆☆☆☆ Found in Text Mining only
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma	Lymphoblastic Leukemia	BEFREE	31827702		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	18172309, 23562839, 26657335, 28167510, 29138500		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Intraepithelial Neoplasias	Prostatic Neoplasms	BEFREE	26657335		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	BEFREE	15994937		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	29138500	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Rachischisis	Rachischisis	CTD_human_DG	17184542		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sarcoma Clear Cell	Sarcoma	Pubtator	36959380	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Spina Bifida	Spina Bifida	BEFREE	17184542		★★★★★ ★☆☆☆☆ Found in Text Mining only
Spina Bifida	Spina Bifida	CTD_human_DG	17184542		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	29631075		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	29631075		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	29229598	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Status Dysraphicus	Status Dysraphicus	CTD_human_DG	17184542		★★★★★ ★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	BEFREE	28973659		★★★★★ ★☆☆☆☆ Found in Text Mining only
T-Cell Lymphoma	T-Cell Lymphoma	BEFREE	25768400		★★★★★ ★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	22279038	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

CHKA (choline kinase alpha)