AGK (acylglycerol kinase)

Gene

• Entrez ID: 55750
• Gene name: Acylglycerol kinase
• Gene symbol: AGK
• Synonyms: 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:0001727	Function	Lipid kinase activity	IBA	21873635
GO:0001729	Function	Ceramide kinase activity	IBA	21873635
GO:0003951	Function	NAD+ kinase activity	IEA
GO:0004143	Function	Diacylglycerol kinase activity	IDA	15939762
GO:0005515	Function	Protein binding	IPI	32814053
GO:0005524	Function	ATP binding	IEA
GO:0005737	Component	Cytoplasm	IBA	21873635
GO:0005739	Component	Mitochondrion	IBA	21873635
GO:0005739	Component	Mitochondrion	IDA
GO:0005741	Component	Mitochondrial outer membrane	TAS
GO:0005743	Component	Mitochondrial inner membrane	IDA	28712724
GO:0005758	Component	Mitochondrial intermembrane space	IDA	28712724, 28712726
GO:0005829	Component	Cytosol	TAS
GO:0006665	Process	Sphingolipid metabolic process	IBA	21873635
GO:0016020	Component	Membrane	IBA	21873635
GO:0016310	Process	Phosphorylation	IBA	21873635
GO:0017050	Function	D-erythro-sphingosine kinase activity	IBA	21873635
GO:0031305	Component	Integral component of mitochondrial inner membrane	IDA	28712726
GO:0031966	Component	Mitochondrial membrane	IDA	15939762, 16269826
GO:0042721	Component	TIM22 mitochondrial import inner membrane insertion complex	IDA	28712724, 28712726
GO:0043231	Component	Intracellular membrane-bounded organelle	IBA	21873635
GO:0043231	Component	Intracellular membrane-bounded organelle	IDA
GO:0045039	Process	Protein insertion into mitochondrial inner membrane	IDA	28712724, 28712726
GO:0046474	Process	Glycerophospholipid biosynthetic process	TAS
GO:0046512	Process	Sphingosine biosynthetic process	IBA	21873635
GO:0046513	Process	Ceramide biosynthetic process	IBA	21873635
GO:0046834	Process	Lipid phosphorylation	IEA
GO:0047620	Function	Acylglycerol kinase activity	IDA	15939762
GO:0102773	Function	Dihydroceramide 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

• 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

Causal
Disease name	Disease term	dbSNP ID	References
Cataract	Cataract, CATARACT 38, Total early-onset cataract	rs118203965, rs118203966, rs104893685, rs121908938, rs104894175, rs121909048, rs28937573, rs121909049, rs121909050, rs74315488, rs80358200, rs80358203, rs121434643, rs56141211, rs132630322, rs121917775, rs121917735, rs121917736, rs137853199, rs137853200, rs121917867, rs121917869, rs121913555, rs104893736, rs121909595, rs121909596, rs121909597, rs28931605, rs121909598, rs104893618, rs1695062782, rs74315486, rs74315487, rs74315490, rs74315489, rs745938679, rs1566402656, rs74315439, rs74315441, rs121912973, rs121917823, rs1593332981, rs121917825, rs121917827, rs113994108, rs387906963, rs387906964, rs1240503246, rs387906965, rs387906966, rs750207077, rs387907336, rs387907337, rs387907342, rs140332366, rs397514703, rs398122937, rs398122378, rs398122392, rs398122944, rs137853924, rs398122947, rs397515623, rs397515624, rs397515625, rs397515626, rs398122948, rs587778872, rs398123066, rs587777601, rs370424081, rs786205221, rs786205222, rs864309684, rs864309688, rs864309701, rs864309689, rs864309690, rs864309681, rs864309686, rs864309696, rs864309693, rs864309687, rs864309691, rs864309692, rs864309695, rs864309678, rs864309685, rs864309700, rs864309698, rs864309683, rs864309682, rs864309679, rs111534978, rs864309680, rs864309702, rs864622780, rs756898971, rs869312732, rs775038545, rs878852983, rs1114167312, rs1114167313, rs1114167314, rs1114167315, rs1114167307, rs886041410, rs886041412, rs1057518738, rs1057517926, rs1057518878, rs1057519616, rs12799308, rs1064793935, rs1064797219, rs1085307126, rs1085307127, rs765628635, rs1114167427, rs1114167433, rs1554744860, rs1554743428, rs747093432, rs1411557416, rs1555179713, rs1481963503, rs1555549755, rs1456161420, rs1555547008, rs1555889308, rs1555888762, rs766522434, rs1264025914, rs1553585262, rs1567671947, rs1337897299, rs764945940, rs1307969607, rs949335475, rs1184095219, rs776129797, rs1569203234, rs1567668570, rs749141857, rs764098604, rs1184398243, rs1578956689, rs1568480054, rs1564745688, rs1564722302, rs1564723150, rs1571175950, rs1569602837, rs1576552712, rs1575369255, rs981126461, rs1570403798, rs200557771, rs1477743112, rs1651879427, rs1651881222, rs1651919374, rs2024441691, rs148284531, rs1246080692	27604308
Corneal dystrophy	Corneal dystrophy	rs121909212, rs121909214, rs760714959, rs766305306, rs1554579819, rs1554579832, rs1554579878
Glaucoma	Glaucoma	rs121918355, rs1566660365, rs1566635134, rs121918356, rs1566634475, rs28936700, rs55771538, rs28936701, rs104893622, rs55989760, rs72549387, rs104893628, rs2125316417, rs104893629, rs74315328, rs121909193, rs74315330, rs74315329, rs74315332, rs74315334, rs74315336, rs74315338, rs74315341, rs121909194, rs74315331, rs1558603396, rs387907175, rs587778873, rs587778875, rs104894979, rs137854895, rs766425037, rs72549380, rs148542782, rs541217363, rs753021890, rs771076928, rs56010818, rs777678299, rs1446110883, rs1573274915, rs1587545234, rs751768343, rs944452644
Hypertrophic cardiomyopathy	Hypertrophic Cardiomyopathy	rs63750743, rs104894655, rs121908987, rs587776643, rs28938173, rs121908989, rs121908991, rs267606977, rs267606978, rs193922384, rs121909374, rs886041030, rs886041031, rs121909375, rs121909377, rs2856655, rs587776700, rs387906397, rs104894204, rs121434470, rs104894828, rs121964855, rs121964856, rs121964858, rs74315380, rs104894724, rs104894725, rs104894727, rs104894728, rs104894729, rs104894730, rs267607127, rs2147283135, rs267607128, rs267607125, rs104894502, rs104894503, rs104894504, rs28933405, rs111033560, rs121434594, rs80338797, rs104893748, rs104894368, rs104894369, rs104894370, rs121913624, rs3218713, rs121913625, rs121913626, rs121913627, rs121913628, rs121913629, rs121913630, rs121913631, rs121913632, rs121913633, rs121913634, rs3218714, rs121913636, rs121913637, rs121913638, rs121913639, rs121913641, rs121913642, rs121913643, rs121913647, rs121913650, rs121913651, rs36211715, rs121913654, rs267606911, rs267606908, rs730880850, rs121912675, rs267606629, rs193922680, rs1600482909, rs387906898, rs199476398, rs387907079, rs199474815, rs199474703, rs199476305, rs199476306, rs199476315, rs199476316, rs199476317, rs199476321, rs199476311, rs193922649, rs36211723, rs187830361, rs193922383, rs193922386, rs193922390, rs193922697, rs387907267, rs397507520, rs727505017, rs397515888, rs397515889, rs397515891, rs397515893, rs397515894, rs397515895, rs397515896, rs397515897, rs397515903, rs397515905, rs375882485, rs397515907, rs397515910, rs397515912, rs397515916, rs397515920, rs397515925, rs397515926, rs397515931, rs397515933, rs397515934, rs397515935, rs397515937, rs397515942, rs397515943, rs397515944, rs397515947, rs397515948, rs397515952, rs397515954, rs112738974, rs111729952, rs397515960, rs397515963, rs397515965, rs397515966, rs397515970, rs397515972, rs397515973, rs397515974, rs397515975, rs397515977, rs376395543, rs397515979, rs397515982, rs397515987, rs397515990, rs397515991, rs397515992, rs397515995, rs397515997, rs397516001, rs397516005, rs113358486, rs397516006, rs397516007, rs397516008, rs397516010, rs397516013, rs397516014, rs373746463, rs397516019, rs397516020, rs397516022, rs397516023, rs397516029, rs397516031, rs397516032, rs397516035, rs397516037, rs397516038, rs397516040, rs397516042, rs397516044, rs397516047, rs397516049, rs397516052, rs397516056, rs397516057, rs397516058, rs397516059, rs397516061, rs397516067, rs397516068, rs397516070, rs397516072, rs397516073, rs397516074, rs397516076, rs397516077, rs397516080, rs201078659, rs397516082, rs397516083, rs1555122751, rs397516088, rs397516089, rs397516095, rs397516098, rs397516101, rs397516103, rs397516110, rs397516127, rs371898076, rs397516132, rs397516134, rs397516142, rs3218716, rs397516153, rs397516154, rs397516155, rs397516156, rs397516157, rs397516160, rs397516161, rs397516165, rs397516166, rs397516170, rs397516171, rs397516172, rs397516178, rs397516179, rs397516187, rs397516201, rs397516202, rs145213771, rs397516207, rs397516209, rs397516212, rs397516238, rs397516248, rs397516254, rs397516258, rs397516260, rs45516091, rs397516264, rs397516266, rs397516269, rs397516340, rs397516347, rs121917760, rs397516349, rs397516353, rs397516354, rs397516355, rs397516357, rs397516373, rs397516406, rs397516455, rs397516456, rs397516457, rs397516463, rs397516464, rs45525839, rs397516470, rs397516471, rs45578238, rs111377893, rs397516736, rs397516738, rs397516739, rs397516751, rs397516752, rs397516784, rs397517283, rs397514752, rs143697995, rs267607490, rs199472948, rs138193236, rs398123279, rs869320740, rs606231340, rs606231324, rs587779392, rs587779393, rs587782951, rs587782957, rs587782958, rs587782962, rs587782965, rs138049878, rs376897125, rs368765949, rs727504247, rs376923877, rs727504277, rs727504255, rs727504246, rs727504331, rs727503513, rs727504392, rs397516039, rs727504271, rs727504321, rs727504289, rs727504305, rs727503172, rs573821685, rs727503176, rs727503178, rs727504423, rs727503180, rs727504333, rs727503182, rs727504265, rs727503184, rs727503186, rs727503187, rs727504252, rs727504864, rs727504334, rs727503192, rs397515932, rs727504366, rs727504248, rs727504287, rs200411226, rs727503204, rs727504329, rs727504269, rs573916965, rs367947846, rs727503210, rs730880335, rs727503166, rs727504390, rs730880361, rs727504276, rs111683277, rs727503174, rs727503175, rs727504349, rs727504314, rs727504371, rs730880341, rs727504293, rs727503195, rs111437311, rs727503202, rs727503203, rs727504279, rs727505152, rs727503209, rs727503211, rs727503212, rs727503217, rs727503219, rs730880366, rs727503220, rs727504356, rs727504311, rs727503261, rs727503264, rs727504238, rs148808089, rs727503271, rs727504409, rs727503276, rs727504283, rs727503296, rs45544633, rs727503246, rs727503252, rs727503253, rs202141173, rs2754158, rs727504310, rs727503260, rs727504272, rs727504240, rs727503263, rs727504239, rs727504925, rs727504237, rs727504236, rs727505202, rs727504267, rs727503278, rs727504243, rs727504285, rs727503499, rs727503504, rs727504242, rs727504264, rs727504275, rs727503500, rs727503503, rs727503120, rs730880336, rs730880337, rs730880362, rs730880210, rs730880143, rs730880159, rs730881116, rs730881122, rs730880162, rs730880605, rs730880604, rs730880600, rs730880702, rs730880598, rs730880597, rs730880699, rs730880592, rs730880675, rs730880720, rs730880719, rs730880672, rs730880668, rs730880718, rs730880666, rs730880586, rs730880584, rs11570112, rs730880578, rs730880576, rs730880660, rs730880657, rs730880655, rs730880654, rs730880653, rs730880652, rs730880714, rs730880651, rs730880558, rs730880649, rs730880647, rs730880713, rs730880646, rs730880546, rs727503197, rs730880695, rs730880644, rs730880640, rs730880712, rs730880544, rs730880542, rs730880541, rs730880538, rs730880533, rs730880531, rs730880641, rs730880639, rs397515890, rs730880724, rs730880635, rs730880723, rs730880686, rs730880631, rs730880678, rs730880629, rs730880684, rs368121566, rs730880621, rs730880681, rs375607980, rs730880618, rs730880680, rs730880679, rs730880677, rs730880704, rs730880703, rs730880721, rs730880698, rs730880664, rs730880663, rs730880662, rs730880659, rs730880916, rs727504558, rs730880759, rs730880756, rs730880750, rs730880749, rs730880748, rs730880736, rs727504241, rs727504299, rs730880732, rs730880883, rs730880930, rs730880929, rs730880875, rs370310929, rs730880926, rs730880864, rs730880856, rs397516268, rs730880922, rs730880845, rs730880388, rs730881091, rs786204352, rs786204339, rs786204338, rs786204336, rs786204329, rs2069544, rs281865416, rs773317399, rs121913648, rs730880809, rs863224483, rs863224899, rs863224900, rs863225120, rs863225121, rs863225107, rs863225114, rs863225113, rs863225104, rs863225105, rs863225112, rs863225106, rs863225109, rs863225111, rs863225100, rs863225103, rs863225102, rs863225097, rs863225101, rs730880876, rs863225272, rs863225271, rs190228518, rs863225269, rs761507504, rs864622224, rs1057515421, rs869025470, rs869025469, rs869025461, rs869025468, rs869025460, rs869025467, rs869025466, rs869025465, rs869025464, rs869025463, rs869025459, rs869025462, rs727503512, rs876657706, rs876657705, rs876657703, rs876657702, rs727503213, rs876657884, rs878854428, rs878853831, rs878853842, rs1562999443, rs1563003848, rs1562991002, rs879255639, rs886037900, rs886037902, rs886037901, rs886038822, rs886039030, rs886039185, rs754664923, rs141019458, rs1057517766, rs1057517767, rs779650200, rs1057518030, rs1057517711, rs1057519503, rs1057520814, rs1060499673, rs1060501480, rs1060501484, rs1060501481, rs1060501478, rs1064792936, rs1060501475, rs1060501479, rs1064792935, rs1060501436, rs1060501448, rs1060501443, rs1060501452, rs1060505018, rs1060499604, rs781135153, rs1064796231, rs1064793202, rs977277400, rs1064793429, rs771929829, rs745811346, rs1114167419, rs1114167361, rs1555409659, rs1555123389, rs1131691514, rs1131692185, rs1131692058, rs1553279294, rs1555120920, rs1555121924, rs1555338319, rs1555120300, rs1555121488, rs373792537, rs1444727212, rs1555338462, rs1555120937, rs1555123629, rs794727046, rs1555123633, rs1555121172, rs1555123438, rs1555336467, rs1555338658, rs1213930919, rs1432810664, rs1555122188, rs764743402, rs974671846, rs1420159591, rs745688425, rs1555338080, rs200889953, rs1555120258, rs1298025872, rs767039057, rs1555120529, rs1555121247, rs774521272, rs1555122156, rs1555123473, rs1555123496, rs1555123597, rs1555337701, rs2856897, rs869312381, rs1555122928, rs1555123743, rs1554401581, rs1555120651, rs868819340, rs1555122053, rs730880742, rs758891557, rs1555337794, rs1555338378, rs1555338758, rs1245885836, rs1566530698, rs1566513862, rs1565629792, rs730880751, rs727504294, rs1563001548, rs1565622952, rs1565625473, rs1565626409, rs1565627536, rs1565628062, rs1565628486, rs1565631430, rs1391622163, rs1131691685, rs749007293, rs1566535491, rs1565624090, rs1565625777, rs1565631428, rs1568858210, rs1566537070, rs1565627566, rs1567864804, rs1563161306, rs1565622703, rs190765116, rs1595843598, rs1565625795, rs1565628078, rs774316050, rs1565631381, rs1565631424, rs1566531421, rs730880872, rs730880870, rs1566536418, rs1566536436, rs1565623216, rs1265248322, rs113276889, rs1562998062, rs1419032418, rs1565627615, rs1565624196, rs1595843640, rs1595846398, rs764950910, rs1600448065, rs1600462474, rs1417887060, rs1600477808, rs1600480573, rs1050997719, rs1420394583, rs1595840648, rs1595841063, rs1595843549, rs1595843758, rs1595845565, rs1595845888, rs1595846344, rs1595846475, rs1595849931, rs1595070747, rs1246272841, rs730880741, rs1173617248, rs1595085409, rs730880879, rs1299079662, rs1595848628, rs1595849603, rs1450218521, rs1571627587, rs1603037717, rs1603038411, rs1595850762, rs777702465, rs1595841736, rs1595842238, rs1595845204, rs1025692267, rs1595070689, rs1198682781, rs2095879705, rs201911056, rs727504425, rs141414377, rs1596303148, rs1595841206, rs1595844714, rs1595842632, rs1595843828, rs113709679, rs1595841552, rs1595849742, rs754529157, rs1709195189, rs1342121466, rs2095880935, rs2095883508, rs2095884984, rs2095889902, rs2095891411, rs2095898532, rs780625785, rs1892592854, rs1892948780, rs2095879167, rs1956121988, rs2095893477, rs2095894178, rs1801002279, rs1892956157
Mitochondrial myopathy	Mitochondrial Myopathies	rs121434454
Myopathy	Myopathy	rs137854521, rs386834236, rs121908557, rs121909092, rs111033570, rs104894299, rs104894294, rs121909273, rs121909274, rs121909275, rs199474699, rs199476140, rs118192165, rs118192169, rs118192166, rs193922856, rs281865489, rs397514675, rs397514676, rs397514677, rs367543058, rs118192117, rs193922837, rs118192129, rs118192143, rs118192153, rs118192133, rs118192156, rs118192149, rs118192148, rs118192183, rs118192147, rs118192123, rs118192127, rs118192142, rs118192144, rs118192178, rs118192151, rs118192150, rs118192184, rs118192154, rs118192134, rs118192155, rs193922893, rs118192132, rs118192146, rs193922867, rs193922884, rs587777528, rs527236030, rs587777672, rs587777673, rs587777674, rs587777675, rs587783343, rs2754158, rs786204796, rs748277951, rs797046047, rs797046064, rs797046060, rs797045479, rs797045931, rs797045932, rs797045934, rs797045935, rs797045477, rs797045478, rs1057518851, rs1057518855, rs1057518773, rs1057518866, rs1555322610, rs1555806119, rs761483896, rs144071404, rs1198364572, rs1568614042, rs978984063, rs1568604308, rs1332371891, rs1601842249, rs777176261, rs1249621033, rs1278804520, rs1568613962, rs1568510406, rs1597512576, rs193922887, rs371455345, rs1603452200, rs1599634685, rs1575065895, rs1575201712, rs139715157, rs1974129338
Myopia	Myopia	rs387907109, rs146936371, rs587776903, rs786205127, rs398122836, rs199624584, rs587777625, rs786205216, rs758872875, rs764211125, rs1135402746, rs765658563, rs1555941129, rs1555941116, rs199923805, rs782555528, rs1554862601, rs1586620121, rs1387950081, rs2051026773, rs1422332023
Nystagmus	Nystagmus	rs137852207, rs137852208, rs1928435502, rs137852209, rs137852210, rs1929191668, rs137852211, rs137852212, rs2124209414, rs387906720, rs387906721, rs1602791884, rs786205896
Hyperoxaluria	Primary hyperoxaluria, type I	rs397509360, rs138207257, rs2041105506, rs267606763, rs267606764, rs80356708, rs119490108, rs121908520, rs121908521, rs121908522, rs121908523, rs121908524, rs121908525, rs121908526, rs121908527, rs121908528, rs121908530, rs121908529, rs180177201, rs180177238, rs180177321, rs672601351, rs180177322, rs180177157, rs180177168, rs180177195, rs180177197, rs180177207, rs180177227, rs180177239, rs180177253, rs180177259, rs786204545, rs180177267, rs180177301, rs180177156, rs180177307, rs138584408, rs180177194, rs180177213, rs180177191, rs34116584, rs180177262, rs180177268, rs180177278, rs180177162, rs180177166, rs180177170, rs180177171, rs180177172, rs180177173, rs180177177, rs767586362, rs180177181, rs180177182, rs796052058, rs796052069, rs180177183, rs180177184, rs180177185, rs180177186, rs796052059, rs180177187, rs180177189, rs180177193, rs180177198, rs796052060, rs180177199, rs180177200, rs180177202, rs180177203, rs796052061, rs180177208, rs138025751, rs796052067, rs113681235, rs796052070, rs180177210, rs180177211, rs180177214, rs180177215, rs180177217, rs180177219, rs180177220, rs180177221, rs180177222, rs180177223, rs180177224, rs180177225, rs180177231, rs180177232, rs180177233, rs180177234, rs180177235, rs180177236, rs180177237, rs180177240, rs180177241, rs180177243, rs180177244, rs796052062, rs180177245, rs180177246, rs536352238, rs180177247, rs180177248, rs180177250, rs180177251, rs180177252, rs180177254, rs111996685, rs111742810, rs180177256, rs1553648931, rs180177257, rs180177258, rs180177261, rs796052072, rs180177263, rs180177264, rs180177265, rs796052068, rs180177269, rs180177270, rs180177272, rs180177273, rs180177276, rs180177279, rs180177284, rs180177281, rs180177286, rs180177285, rs180177287, rs180177288, rs180177292, rs180177293, rs180177294, rs180177295, rs180177296, rs180177297, rs180177298, rs796052063, rs180177299, rs796052074, rs180177300, rs180177302, rs796052064, rs180177303, rs180177155, rs756437332, rs796052065, rs180177158, rs180177160, rs180177161, rs180177163, rs180177164, rs796052066, rs180177255, rs180177289, rs796052077, rs180177311, rs180177319, rs180177304, rs180177305, rs796052078, rs796052081, rs180177308, rs180177309, rs180177313, rs180177314, rs180177315, rs180177316, rs796052082, rs180177317, rs180177324, rs180177325, rs746419489, rs764396564, rs758304537, rs796052084, rs796052088, rs796052089, rs150702945, rs767405535, rs796052090, rs202047589, rs185803104, rs796052085, rs755562733, rs796052086, rs770050262, rs756489804, rs796052087, rs149150736, rs777046879, rs796052091, rs796052092, rs1057516896, rs751101495, rs1057517398, rs1057517238, rs1057516299, rs1057517333, rs1057517026, rs771019056, rs1057516990, rs1057516292, rs1057516823, rs1057516831, rs1419840309, rs757796926, rs1553648568, rs778567956, rs112673831, rs1553649375, rs1553648488, rs1553648493, rs1553649007, rs1554746094, rs1244822375, rs1554746097, rs1554746565, rs1422977131, rs1331106064, rs1554746793, rs1257080057, rs1554748528, rs1554748598, rs777683624, rs776817346, rs779208888, rs1554747871, rs111256477, rs1554747933, rs1554748534, rs1554748574, rs1425736036, rs1554874130, rs1554874148, rs746776892, rs990830655, rs752277936, rs749315029, rs1564297234, rs1564753668, rs924232072, rs1564300888, rs1564760008, rs774654020, rs1588757756, rs148049120, rs1553648979, rs1822898131
Sengers syndrome	Cataract and cardiomyopathy	rs1554399572, rs1554405935, rs868431923, rs387907024, rs1554401641, rs387907025, rs771945804, rs542547163, rs746709222, rs766413410, rs863223895, rs777096695, rs1554401640, rs1554405947, rs1587181981, rs1587053244, rs1587162871, rs1228071168	27604308, 23266196, 26633545, 22415731, 3560758, 22284826
Trichohepatoenteric syndrome	TRICHOHEPATOENTERIC SYNDROME 1	rs751026211, rs1582171003, rs1562659544, rs1060499527, rs387907147, rs387907148, rs1060499528, rs746874042, rs370373017, rs534237033, rs746709222, rs200818962, rs776321294, rs781763471, rs768503878, rs1580193741, rs1582187890, rs1582849711, rs1582192007, rs1582849807, rs1269943135, rs771031428, rs140800288, rs570910902, rs751074844, rs770099418

Unknown
Disease name	Disease term	dbSNP ID	References
Congenital cataract	Congenital cataract, Congenital total cataract		22415731, 26622071
Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome	Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome
Motor delay	Clumsiness - motor delay
Strabismus	Strabismus