AGK (acylglycerol kinase)

Gene

• Entrez ID: 55750
• Gene name: Acylglycerol kinase
• Gene symbol: AGK
• Synonyms (NCBI Gene): CATC5, CTRCT38, MTDPS10, MULK
• Chromosome: 7
• Chromosome location: 7q34
• Summary: The protein encoded by this gene is a mitochondrial membrane protein involved in lipid and glycerolipid metabolism. The encoded protein is a lipid kinase that catalyzes the formation of phosphatidic and lysophosphatidic acids. Defects in this gene have be

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs35269563	A>G	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs142069429	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Genic downstream transcript variant, coding sequence variant, missense variant
rs387907024	C>T	Pathogenic	Coding sequence variant, stop gained
rs387907025	C>T	Pathogenic	Coding sequence variant, stop gained
rs542547163	G>A	Pathogenic	Genic downstream transcript variant, intron variant
rs746709222	C>T	Pathogenic	Stop gained, coding sequence variant
rs765471424	T>C	Pathogenic	Splice donor variant
rs766413410	C>A,G,T	Pathogenic	Intron variant
rs771945804	C>A,G,T	Pathogenic	Coding sequence variant, synonymous variant, stop gained
rs777096695	G>A,T	Pathogenic, likely-pathogenic	Splice donor variant
rs863223895	G>A,C	Pathogenic	Initiator codon variant, missense variant
rs868431923	G>A,T	Pathogenic	Splice donor variant
rs886041491	A>G,T	Pathogenic	Genic downstream transcript variant, splice acceptor variant
rs886041835	G>T	Pathogenic	Splice acceptor variant
rs1554399572	T>C	Pathogenic	Splice donor variant
rs1554401640	A>G	Pathogenic	Splice acceptor variant
rs1554401641	T>G	Pathogenic	Coding sequence variant, stop gained
rs1587053244	G>A	Likely-pathogenic	Stop gained, coding sequence variant
rs1587162871	T>G	Likely-pathogenic	Splice donor variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT025890	hsa-miR-7-5p	Microarray	19073608
MIRT031554	hsa-miR-16-5p	Proteomics	18668040
MIRT043923	hsa-miR-378a-3p	CLASH	23622248
MIRT042001	hsa-miR-484	CLASH	23622248
MIRT529306	hsa-miR-3691-3p	PAR-CLIP	22012620
MIRT529305	hsa-miR-519d-5p	PAR-CLIP	22012620
MIRT529303	hsa-miR-5695	PAR-CLIP	22012620
MIRT529304	hsa-miR-3126-5p	PAR-CLIP	22012620
MIRT529301	hsa-miR-6875-5p	PAR-CLIP	22012620
MIRT529302	hsa-miR-4419a	PAR-CLIP	22012620
MIRT529300	hsa-miR-4510	PAR-CLIP	22012620
MIRT529299	hsa-miR-6127	PAR-CLIP	22012620
MIRT529298	hsa-miR-6129	PAR-CLIP	22012620
MIRT529297	hsa-miR-6130	PAR-CLIP	22012620
MIRT529296	hsa-miR-6133	PAR-CLIP	22012620
MIRT529295	hsa-miR-582-5p	PAR-CLIP	22012620
MIRT529294	hsa-miR-515-5p	PAR-CLIP	22012620
MIRT529293	hsa-miR-519e-5p	PAR-CLIP	22012620
MIRT529291	hsa-miR-6834-5p	PAR-CLIP	22012620
MIRT529292	hsa-miR-1226-5p	PAR-CLIP	22012620
MIRT529289	hsa-miR-6734-5p	PAR-CLIP	22012620
MIRT529290	hsa-miR-629-3p	PAR-CLIP	22012620
MIRT449834	hsa-miR-5571-5p	PAR-CLIP	22100165
MIRT449833	hsa-miR-3682-3p	PAR-CLIP	22100165
MIRT449832	hsa-miR-526b-5p	PAR-CLIP	22100165
MIRT529306	hsa-miR-3691-3p	PAR-CLIP	22012620
MIRT529305	hsa-miR-519d-5p	PAR-CLIP	22012620
MIRT529303	hsa-miR-5695	PAR-CLIP	22012620
MIRT529304	hsa-miR-3126-5p	PAR-CLIP	22012620
MIRT529301	hsa-miR-6875-5p	PAR-CLIP	22012620
MIRT529302	hsa-miR-4419a	PAR-CLIP	22012620
MIRT529300	hsa-miR-4510	PAR-CLIP	22012620
MIRT529299	hsa-miR-6127	PAR-CLIP	22012620
MIRT529298	hsa-miR-6129	PAR-CLIP	22012620
MIRT529297	hsa-miR-6130	PAR-CLIP	22012620
MIRT529296	hsa-miR-6133	PAR-CLIP	22012620
MIRT529295	hsa-miR-582-5p	PAR-CLIP	22012620
MIRT529294	hsa-miR-515-5p	PAR-CLIP	22012620
MIRT529293	hsa-miR-519e-5p	PAR-CLIP	22012620
MIRT529291	hsa-miR-6834-5p	PAR-CLIP	22012620
MIRT529292	hsa-miR-1226-5p	PAR-CLIP	22012620
MIRT529289	hsa-miR-6734-5p	PAR-CLIP	22012620
MIRT529290	hsa-miR-629-3p	PAR-CLIP	22012620
MIRT449834	hsa-miR-5571-5p	PAR-CLIP	22100165
MIRT449833	hsa-miR-3682-3p	PAR-CLIP	22100165
MIRT449832	hsa-miR-526b-5p	PAR-CLIP	22100165
MIRT772022	hsa-miR-1208	CLIP-seq
MIRT772023	hsa-miR-122	CLIP-seq
MIRT772024	hsa-miR-1226	CLIP-seq
MIRT772025	hsa-miR-1287	CLIP-seq
MIRT772026	hsa-miR-1343	CLIP-seq
MIRT772027	hsa-miR-15a	CLIP-seq
MIRT772028	hsa-miR-15b	CLIP-seq
MIRT772029	hsa-miR-16	CLIP-seq
MIRT772030	hsa-miR-1827	CLIP-seq
MIRT772031	hsa-miR-195	CLIP-seq
MIRT772032	hsa-miR-203	CLIP-seq
MIRT772033	hsa-miR-3065-3p	CLIP-seq
MIRT772034	hsa-miR-3122	CLIP-seq
MIRT772035	hsa-miR-3135b	CLIP-seq
MIRT772036	hsa-miR-3147	CLIP-seq
MIRT772037	hsa-miR-3676	CLIP-seq
MIRT772038	hsa-miR-3690	CLIP-seq
MIRT772039	hsa-miR-384	CLIP-seq
MIRT772040	hsa-miR-3913-5p	CLIP-seq
MIRT772041	hsa-miR-3915	CLIP-seq
MIRT772042	hsa-miR-3928	CLIP-seq
MIRT772043	hsa-miR-3974	CLIP-seq
MIRT772044	hsa-miR-424	CLIP-seq
MIRT772045	hsa-miR-4254	CLIP-seq
MIRT772046	hsa-miR-4266	CLIP-seq
MIRT772047	hsa-miR-4293	CLIP-seq
MIRT772048	hsa-miR-4305	CLIP-seq
MIRT772049	hsa-miR-4425	CLIP-seq
MIRT772050	hsa-miR-4436b-3p	CLIP-seq
MIRT772051	hsa-miR-4447	CLIP-seq
MIRT772052	hsa-miR-4472	CLIP-seq
MIRT772053	hsa-miR-4481	CLIP-seq
MIRT772054	hsa-miR-4488	CLIP-seq
MIRT772055	hsa-miR-4496	CLIP-seq
MIRT772056	hsa-miR-450b-3p	CLIP-seq
MIRT772057	hsa-miR-4524	CLIP-seq
MIRT772058	hsa-miR-4635	CLIP-seq
MIRT772059	hsa-miR-4649-3p	CLIP-seq
MIRT772060	hsa-miR-4685-5p	CLIP-seq
MIRT772061	hsa-miR-4695-5p	CLIP-seq
MIRT772062	hsa-miR-4697-5p	CLIP-seq
MIRT772063	hsa-miR-4719	CLIP-seq
MIRT772064	hsa-miR-4733-3p	CLIP-seq
MIRT772065	hsa-miR-4745-5p	CLIP-seq
MIRT772066	hsa-miR-4747-5p	CLIP-seq
MIRT772067	hsa-miR-4779	CLIP-seq
MIRT772068	hsa-miR-497	CLIP-seq
MIRT772069	hsa-miR-503	CLIP-seq
MIRT772070	hsa-miR-544b	CLIP-seq
MIRT772071	hsa-miR-570	CLIP-seq
MIRT772072	hsa-miR-646	CLIP-seq
MIRT772073	hsa-miR-651	CLIP-seq
MIRT772074	hsa-miR-7	CLIP-seq
MIRT772075	hsa-miR-765	CLIP-seq
MIRT772076	hsa-miR-769-3p	CLIP-seq
MIRT1927829	hsa-miR-1207-3p	CLIP-seq
MIRT772023	hsa-miR-122	CLIP-seq
MIRT1927830	hsa-miR-1269	CLIP-seq
MIRT1927831	hsa-miR-1269b	CLIP-seq
MIRT772025	hsa-miR-1287	CLIP-seq
MIRT1927832	hsa-miR-1288	CLIP-seq
MIRT1927833	hsa-miR-1299	CLIP-seq
MIRT1927834	hsa-miR-181a	CLIP-seq
MIRT1927835	hsa-miR-181b	CLIP-seq
MIRT1927836	hsa-miR-181c	CLIP-seq
MIRT1927837	hsa-miR-181d	CLIP-seq
MIRT1927838	hsa-miR-23a	CLIP-seq
MIRT1927839	hsa-miR-23b	CLIP-seq
MIRT1927840	hsa-miR-23c	CLIP-seq
MIRT1927841	hsa-miR-2467-3p	CLIP-seq
MIRT772034	hsa-miR-3122	CLIP-seq
MIRT772035	hsa-miR-3135b	CLIP-seq
MIRT1927842	hsa-miR-3607-3p	CLIP-seq
MIRT1927843	hsa-miR-378	CLIP-seq
MIRT1927844	hsa-miR-378b	CLIP-seq
MIRT1927845	hsa-miR-378c	CLIP-seq
MIRT1927846	hsa-miR-378d	CLIP-seq
MIRT1927847	hsa-miR-378e	CLIP-seq
MIRT1927848	hsa-miR-378f	CLIP-seq
MIRT1927849	hsa-miR-378h	CLIP-seq
MIRT1927850	hsa-miR-378i	CLIP-seq
MIRT772040	hsa-miR-3913-5p	CLIP-seq
MIRT1927851	hsa-miR-422a	CLIP-seq
MIRT1927852	hsa-miR-4262	CLIP-seq
MIRT1927853	hsa-miR-4282	CLIP-seq
MIRT1927854	hsa-miR-4307	CLIP-seq
MIRT772051	hsa-miR-4447	CLIP-seq
MIRT772052	hsa-miR-4472	CLIP-seq
MIRT772053	hsa-miR-4481	CLIP-seq
MIRT772054	hsa-miR-4488	CLIP-seq
MIRT1927855	hsa-miR-4515	CLIP-seq
MIRT1927856	hsa-miR-4638-3p	CLIP-seq
MIRT772062	hsa-miR-4697-5p	CLIP-seq
MIRT1927857	hsa-miR-4740-5p	CLIP-seq
MIRT772065	hsa-miR-4745-5p	CLIP-seq
MIRT772066	hsa-miR-4747-5p	CLIP-seq
MIRT1927858	hsa-miR-4760-5p	CLIP-seq
MIRT1927859	hsa-miR-4782-5p	CLIP-seq
MIRT1927860	hsa-miR-486-3p	CLIP-seq
MIRT1927861	hsa-miR-516b	CLIP-seq
MIRT1927862	hsa-miR-590-3p	CLIP-seq
MIRT772023	hsa-miR-122	CLIP-seq
MIRT2168702	hsa-miR-1280	CLIP-seq
MIRT772025	hsa-miR-1287	CLIP-seq
MIRT772030	hsa-miR-1827	CLIP-seq
MIRT1927841	hsa-miR-2467-3p	CLIP-seq
MIRT772034	hsa-miR-3122	CLIP-seq
MIRT772035	hsa-miR-3135b	CLIP-seq
MIRT772040	hsa-miR-3913-5p	CLIP-seq
MIRT772051	hsa-miR-4447	CLIP-seq
MIRT772052	hsa-miR-4472	CLIP-seq
MIRT772053	hsa-miR-4481	CLIP-seq
MIRT772054	hsa-miR-4488	CLIP-seq
MIRT772056	hsa-miR-450b-3p	CLIP-seq
MIRT772059	hsa-miR-4649-3p	CLIP-seq
MIRT772062	hsa-miR-4697-5p	CLIP-seq
MIRT772065	hsa-miR-4745-5p	CLIP-seq
MIRT772066	hsa-miR-4747-5p	CLIP-seq
MIRT2168703	hsa-miR-4796-3p	CLIP-seq
MIRT1927860	hsa-miR-486-3p	CLIP-seq
MIRT2168704	hsa-miR-671-5p	CLIP-seq
MIRT772076	hsa-miR-769-3p	CLIP-seq
MIRT772034	hsa-miR-3122	CLIP-seq
MIRT772040	hsa-miR-3913-5p	CLIP-seq
MIRT772066	hsa-miR-4747-5p	CLIP-seq
MIRT2471196	hsa-miR-1203	CLIP-seq
MIRT772024	hsa-miR-1226	CLIP-seq
MIRT2471197	hsa-miR-1245b-3p	CLIP-seq
MIRT2471198	hsa-miR-1305	CLIP-seq
MIRT772026	hsa-miR-1343	CLIP-seq
MIRT772027	hsa-miR-15a	CLIP-seq
MIRT772028	hsa-miR-15b	CLIP-seq
MIRT772029	hsa-miR-16	CLIP-seq
MIRT772031	hsa-miR-195	CLIP-seq
MIRT2471199	hsa-miR-296-5p	CLIP-seq
MIRT772033	hsa-miR-3065-3p	CLIP-seq
MIRT2471200	hsa-miR-3074-5p	CLIP-seq
MIRT2471201	hsa-miR-3124-3p	CLIP-seq
MIRT2471202	hsa-miR-3132	CLIP-seq
MIRT2471203	hsa-miR-3170	CLIP-seq
MIRT2471204	hsa-miR-3189-5p	CLIP-seq
MIRT2471205	hsa-miR-3202	CLIP-seq
MIRT2471206	hsa-miR-3529	CLIP-seq
MIRT2471207	hsa-miR-3622a-3p	CLIP-seq
MIRT2471208	hsa-miR-3622b-3p	CLIP-seq
MIRT2471209	hsa-miR-3670	CLIP-seq
MIRT772038	hsa-miR-3690	CLIP-seq
MIRT2471210	hsa-miR-379	CLIP-seq
MIRT772039	hsa-miR-384	CLIP-seq
MIRT2471211	hsa-miR-3940-5p	CLIP-seq
MIRT772043	hsa-miR-3974	CLIP-seq
MIRT2471212	hsa-miR-421	CLIP-seq
MIRT772044	hsa-miR-424	CLIP-seq
MIRT772045	hsa-miR-4254	CLIP-seq
MIRT2471213	hsa-miR-4260	CLIP-seq
MIRT772048	hsa-miR-4305	CLIP-seq
MIRT2471214	hsa-miR-4325	CLIP-seq
MIRT772050	hsa-miR-4436b-3p	CLIP-seq
MIRT2471215	hsa-miR-4464	CLIP-seq
MIRT2471216	hsa-miR-448	CLIP-seq
MIRT772055	hsa-miR-4496	CLIP-seq
MIRT2471217	hsa-miR-4507	CLIP-seq
MIRT772057	hsa-miR-4524	CLIP-seq
MIRT2471218	hsa-miR-4646-5p	CLIP-seq
MIRT772060	hsa-miR-4685-5p	CLIP-seq
MIRT772063	hsa-miR-4719	CLIP-seq
MIRT772064	hsa-miR-4733-3p	CLIP-seq
MIRT772066	hsa-miR-4747-5p	CLIP-seq
MIRT2471219	hsa-miR-4748	CLIP-seq
MIRT772068	hsa-miR-497	CLIP-seq
MIRT772069	hsa-miR-503	CLIP-seq
MIRT2471220	hsa-miR-548c-3p	CLIP-seq
MIRT772072	hsa-miR-646	CLIP-seq
MIRT772075	hsa-miR-765	CLIP-seq
MIRT2471196	hsa-miR-1203	CLIP-seq
MIRT772024	hsa-miR-1226	CLIP-seq
MIRT2471197	hsa-miR-1245b-3p	CLIP-seq
MIRT772026	hsa-miR-1343	CLIP-seq
MIRT772027	hsa-miR-15a	CLIP-seq
MIRT772028	hsa-miR-15b	CLIP-seq
MIRT772029	hsa-miR-16	CLIP-seq
MIRT772031	hsa-miR-195	CLIP-seq
MIRT2471199	hsa-miR-296-5p	CLIP-seq
MIRT772033	hsa-miR-3065-3p	CLIP-seq
MIRT2471200	hsa-miR-3074-5p	CLIP-seq
MIRT2471201	hsa-miR-3124-3p	CLIP-seq
MIRT2471202	hsa-miR-3132	CLIP-seq
MIRT2471203	hsa-miR-3170	CLIP-seq
MIRT2471204	hsa-miR-3189-5p	CLIP-seq
MIRT2471205	hsa-miR-3202	CLIP-seq
MIRT2471206	hsa-miR-3529	CLIP-seq
MIRT2471207	hsa-miR-3622a-3p	CLIP-seq
MIRT2471208	hsa-miR-3622b-3p	CLIP-seq
MIRT2471209	hsa-miR-3670	CLIP-seq
MIRT772038	hsa-miR-3690	CLIP-seq
MIRT2471210	hsa-miR-379	CLIP-seq
MIRT2471211	hsa-miR-3940-5p	CLIP-seq
MIRT772043	hsa-miR-3974	CLIP-seq
MIRT772044	hsa-miR-424	CLIP-seq
MIRT772045	hsa-miR-4254	CLIP-seq
MIRT2471213	hsa-miR-4260	CLIP-seq
MIRT772048	hsa-miR-4305	CLIP-seq
MIRT2471214	hsa-miR-4325	CLIP-seq
MIRT772050	hsa-miR-4436b-3p	CLIP-seq
MIRT2471215	hsa-miR-4464	CLIP-seq
MIRT2471216	hsa-miR-448	CLIP-seq
MIRT772055	hsa-miR-4496	CLIP-seq
MIRT2471217	hsa-miR-4507	CLIP-seq
MIRT772057	hsa-miR-4524	CLIP-seq
MIRT2471218	hsa-miR-4646-5p	CLIP-seq
MIRT772060	hsa-miR-4685-5p	CLIP-seq
MIRT772063	hsa-miR-4719	CLIP-seq
MIRT772064	hsa-miR-4733-3p	CLIP-seq
MIRT772066	hsa-miR-4747-5p	CLIP-seq
MIRT2471219	hsa-miR-4748	CLIP-seq
MIRT772068	hsa-miR-497	CLIP-seq
MIRT772069	hsa-miR-503	CLIP-seq
MIRT2471220	hsa-miR-548c-3p	CLIP-seq
MIRT772072	hsa-miR-646	CLIP-seq
MIRT772075	hsa-miR-765	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0001727	Function	Lipid kinase activity	IEA
GO:0001729	Function	Ceramide kinase activity	IBA
GO:0001729	Function	Ceramide kinase activity	IEA
GO:0004143	Function	ATP-dependent diacylglycerol kinase activity	IBA
GO:0004143	Function	ATP-dependent diacylglycerol kinase activity	IDA	15939762
GO:0004143	Function	ATP-dependent diacylglycerol kinase activity	IEA
GO:0005515	Function	Protein binding	IPI	28514442, 32814053, 33961781, 37009826
GO:0005524	Function	ATP binding	IEA
GO:0005737	Component	Cytoplasm	IBA
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IBA
GO:0005739	Component	Mitochondrion	IDA
GO:0005739	Component	Mitochondrion	IEA
GO:0005741	Component	Mitochondrial outer membrane	TAS
GO:0005743	Component	Mitochondrial inner membrane	IDA	28712724, 28712726, 32901109
GO:0005743	Component	Mitochondrial inner membrane	IEA
GO:0005758	Component	Mitochondrial intermembrane space	IDA	28712724, 28712726
GO:0005758	Component	Mitochondrial intermembrane space	IEA
GO:0005829	Component	Cytosol	TAS
GO:0006629	Process	Lipid metabolic process	IEA
GO:0008481	Function	Sphingosine kinase activity	IBA
GO:0016020	Component	Membrane	IBA
GO:0016020	Component	Membrane	IEA
GO:0016301	Function	Kinase activity	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0031966	Component	Mitochondrial membrane	IDA	15939762, 16269826
GO:0042721	Component	TIM22 mitochondrial import inner membrane insertion complex	IDA	28712724, 28712726
GO:0042721	Component	TIM22 mitochondrial import inner membrane insertion complex	IPI	32901109
GO:0045039	Process	Protein insertion into mitochondrial inner membrane	IDA	28712724, 28712726, 32901109
GO:0046486	Process	Glycerolipid metabolic process	IEA
GO:0046512	Process	Sphingosine biosynthetic process	IBA
GO:0046513	Process	Ceramide biosynthetic process	IBA
GO:0046513	Process	Ceramide biosynthetic process	IEA
GO:0046834	Process	Lipid phosphorylation	IEA
GO:0047620	Function	Acylglycerol kinase activity	IBA
GO:0047620	Function	Acylglycerol kinase activity	IDA	15939762
GO:0047620	Function	Acylglycerol kinase activity	IEA

Other IDs

• MIM: 610345
• HGNC: 21869
• e!Ensembl: ENSG00000006530

Protein

• UniProt ID: Q53H12
• Protein name: Acylglycerol kinase, mitochondrial (hAGK) (EC 2.7.1.107) (EC 2.7.1.138) (EC 2.7.1.94) (Multiple substrate lipid kinase) (HsMuLK) (MuLK) (Multi-substrate lipid kinase)
• Protein function: Lipid kinase that can phosphorylate both monoacylglycerol and diacylglycerol to form lysophosphatidic acid (LPA) and phosphatidic acid (PA), respectively (PubMed:15939762). Does not phosphorylate sphingosine (PubMed:15939762). Phosphorylates cer
• PDB: 7CGP
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00781	DAGK_cat	62 → 195	Diacylglycerol kinase catalytic domain	Family

• Tissue specificity: TISSUE SPECIFICITY: Highly expressed in muscle, heart, kidney and brain. {ECO:0000269|PubMed:15939762}.
• Sequence:

  MTVFFKTLRNHWKKTTAGLCLLTWGGHWLYGKHCDNLLRRAACQEAQVFGNQLIPPNAQV
  KKATVFLNPAACKGKARTLFEKNAAPILHLSGMDVTIVKTDYEGQAKKLLELMENTDVII
  VAGGDGTLQEVVTGVLRRTDEATFSKIPIGFIPLGETSSLSHTLFAESGNKVQHITDATL
  AIVKGETVPLDVLQIKGEKEQPVFAMTGLRWGSFRDAGVKVSKYWYLGPLKIKAAHFFST
  LKEWPQTHQASISYTGPTERPPNEPEETPVQRPSLYRRILRRLASYWAQPQDALSQEVSP
  EVWKDVQLSTIELSITTRNNQLDPTSKEDFLNICIEPDTISKGDFITIGSRKVRNPKLHV
  EGTECLQASQCTLLIPEGAGGSFSIDSEEYEAMPVEVKLLPRKLQFFCDPRKREQMLTSP
  TQ

• Sequence length: 422

Pathways

KEGG:

Glycerolipid metabolism
Metabolic pathways

Reactome:

Glycerophospholipid biosynthesis
Signaling by BRAF and RAF fusions

Associated diseases

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)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
AGK-related disorder	Pathogenic	rs2485391716, rs765471424	RCV003492749 RCV004541541	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Autosomal recessive AGK-related phenotype	Likely pathogenic; Pathogenic	rs766413410	RCV000984913	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cataract 38	Pathogenic; Likely pathogenic	rs1259937492, rs2116998520, rs1199705359, rs773677513, rs746709222, rs766413410, rs2485410329, rs2485501462, rs2485465829, rs2485410335, rs886041491, rs2485379262, rs139967538, rs2485379466, rs2485387302, rs387907025, rs765471424, rs777096695, rs1554405928, rs771945804, rs1228071168, rs1797560612	RCV001382409 RCV001933190 RCV002044696 RCV003091648 RCV001852539 RCV000024610 RCV002847437 RCV002862667 RCV003059184 RCV003048475 RCV003765578 RCV003779486 RCV003785050 RCV003804110 RCV003817962 RCV005222702 RCV002527087 RCV005208714 RCV000696618 RCV003769020 RCV005213456 RCV005213511	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Sengers syndrome	Pathogenic; Likely pathogenic	rs778049466, rs1259937492, rs2116998520, rs1199705359, rs2485391716, rs773677513, rs746709222, rs766413410, rs2485410329, rs2485501462, rs863223895, rs2485465829, rs2485410335, rs886041491, rs368565785, rs2485379262, rs139967538, rs2485379466, rs2485387302, rs1554399572, rs1554405935, rs868431923, rs387907024, rs1554401641, rs387907025, rs771945804, rs542547163, rs765471424, rs777096695, rs1554401640, rs1554405947, rs1554405928, rs1587181981, rs1587053244, rs1587162871, rs1228071168, rs771375243, rs1797560612	RCV001336431 RCV001382409 RCV001933190 RCV002044696 RCV002283348 RCV003091648 RCV000191059 RCV000191058 RCV002847437 RCV002862667 RCV000023811 RCV003059184 RCV003048475 RCV003765578 RCV003330156 RCV003779486 RCV003785050 RCV003804110 RCV003817962 RCV000023808 RCV000023809 RCV000023810 RCV000023812 RCV000023813 RCV000023814 RCV000023815 RCV000023816 RCV002527087 RCV000538499 RCV000578375 RCV000578454 RCV000696618 RCV000787336 RCV000985092 RCV000991387 RCV002471037 RCV001095709 RCV001268954 RCV001268953	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Thyroid cancer, nonmedullary, 1	Pathogenic	rs2485379466	RCV005934933	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Trichohepatoenteric syndrome 1	Pathogenic	rs746709222	RCV000679854	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
CATARACT AND CARDIOMYOPATHY	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC KIDNEY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL CATARACT	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL CATARACT-HYPERTROPHIC CARDIOMYOPATHY-MITOCHONDRIAL MYOPATHY SYNDROME	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL TOTAL CATARACT	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Developmental cataract	Uncertain significance; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KIDNEY FAILURE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mitochondrial disease	Conflicting classifications of pathogenicity	ClinVar ClinGen, GWAS catalog	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
MITOCHONDRIAL DISEASES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MOOD DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PRION DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSORIASIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TOTAL EARLY-ONSET CATARACT	—	GWAS catalog, Orphanet GWAS catalog, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and Leigh-like syndrome	3-Methylglutaconic Aciduria With Sensorineural Deafness, Encephalopathy And Leigh-Like Syndrome	BEFREE	25595726		★☆☆☆☆ Found in Text Mining only
Acidosis Lactic	Lactic acidosis	Pubtator	28712726, 33476211, 36253788	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	23676499, 24886245		★☆☆☆☆ Found in Text Mining only
Carcinoma Ovarian Epithelial	Epithelial ovarian carcinoma	Pubtator	35934718	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	31900208, 37009826	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	BEFREE	22284826		★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	Pubtator	22284826, 34948281	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Hypertrophic	Hypertrophic cardiomyopathy	Pubtator	28712724, 28712726, 33120694, 33476211	Associate	★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	Pubtator	22284826, 28712724, 28712726, 33120694, 33476211, 34948281, 36253788	Associate	★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	BEFREE	22415731, 28712724		★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★☆☆☆☆ Found in Text Mining only
CATARACT 38	Cataract	GENOMICS_ENGLAND_DG	27604308		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
CATARACT 38	Cataract	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
CATARACT 38	Cataract	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cataract and cardiomyopathy	Sengers syndrome	BEFREE	22284826, 23266196, 25178427, 25208612, 25595726, 28712724, 28712726, 28868593		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cataract and cardiomyopathy	Sengers syndrome	ORPHANET_DG	22284826		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cataract and cardiomyopathy	Sengers syndrome	Pubtator	22284826, 28712724, 28712726, 33120694, 33476211, 34948281, 36253788, 39824030	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cataract and cardiomyopathy	Sengers syndrome	CLINVAR_DG	22415731, 26633545		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cataract and cardiomyopathy	Sengers syndrome	CTD_human_DG	23266196		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cataract and cardiomyopathy	Sengers syndrome	GENOMICS_ENGLAND_DG	27604308, 3560758		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical Intraepithelial Neoplasia	Cervical Intraepithelial Neoplasia	BEFREE	30651661		★☆☆☆☆ Found in Text Mining only
Clumsiness - motor delay	Motor delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital cataract	Congenital Cataract	BEFREE	22284826		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital cataract	Congenital Cataract	GENOMICS_ENGLAND_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome	Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital muscular dystrophy (disorder)	Congenital muscular dystrophy	BEFREE	25178427		★☆☆☆☆ Found in Text Mining only
Congenital total cataract	Congenital Cataract	ORPHANET_DG	22415731, 26622071		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Corneal dystrophy	Corneal Dystrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	27574811		★☆☆☆☆ Found in Text Mining only
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	26443540	Stimulate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	23676499, 24886245		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	15939762, 19549252		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	19549252, 25872568, 26443540, 27574811		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	35871080	Associate	★☆☆☆☆ Found in Text Mining only
Mitochondrial Myopathies	Mitochondrial myopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	Pubtator	29346494	Associate	★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	BEFREE	26443540		★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Carcinoma	Nasopharyngeal carcinoma	Pubtator	26443540	Stimulate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	24886245, 26662108, 27574811, 31390548		★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	35934718	Associate	★☆☆☆☆ Found in Text Mining only
Papillary thyroid carcinoma	Papillary thyroid carcinoma	BEFREE	30924609		★☆☆☆☆ Found in Text Mining only
Primary hyperoxaluria, type I	Hyperoxaluria	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	15939762, 19549252		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	19549252	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	25872568, 25960215		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	23676499		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	30657560	Associate	★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	27037835	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid carcinoma	Thyroid Carcinoma	BEFREE	27037835		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasms	Thyroid cancer	Pubtator	27037835, 32737449	Associate	★☆☆☆☆ Found in Text Mining only
Total early-onset cataract	Cataract	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TRICHOHEPATOENTERIC SYNDROME 1	Trichohepatoenteric Syndrome	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Triglyceride storage disease with ichthyosis	Triglyceride Storage Disease With Ichthyosis	BEFREE	22814679		★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	26662108	Stimulate	★☆☆☆☆ Found in Text Mining only
Vitreoretinopathy Proliferative	Vitreoretinopathy	Pubtator	22103573	Associate	★☆☆☆☆ Found in Text Mining only