SLC33A1 (solute carrier family 33 member 1)

Gene

• Entrez ID: 9197
• Gene name: Solute carrier family 33 member 1
• Gene symbol: SLC33A1
• Synonyms (NCBI Gene): ACATN, AT-1, AT1, CCHLND, HPBDS, SPG42
• Disease Acronyms (UniProt): HPBDS, SPG42
• Chromosome: 3
• Chromosome location: 3q25.31
• Summary: The protein encoded by this gene is required for the formation of O-acetylated (Ac) gangliosides. The encoded protein is predicted to contain 6 to 10 transmembrane domains, and a leucine zipper motif in transmembrane domain III. Defects in this gene have

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs76440173	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, missense variant, non coding transcript variant
rs1266904735	C>T	Likely-pathogenic	Splice donor variant, intron variant
rs1308995894	G>A,C	Pathogenic	Intron variant, coding sequence variant, synonymous variant, missense variant, stop gained, non coding transcript variant
rs1577455542	CATACTTACCTCAACAGC>-	Pathogenic	Splice donor variant, non coding transcript variant, intron variant, coding sequence variant
rs1577455897	C>T	Pathogenic	Splice acceptor variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT018843	hsa-miR-335-5p	Microarray	18185580
MIRT020990	hsa-miR-155-5p	Reporter assay;Other	20584899
MIRT028666	hsa-miR-30a-5p	Proteomics	18668040
MIRT051368	hsa-let-7f-5p	CLASH	23622248
MIRT454593	hsa-miR-3145-5p	HITS-CLIP	23706177
MIRT454592	hsa-miR-508-5p	HITS-CLIP	23706177
MIRT454591	hsa-miR-25-3p	HITS-CLIP	23706177
MIRT454590	hsa-miR-32-5p	HITS-CLIP	23706177
MIRT454589	hsa-miR-363-3p	HITS-CLIP	23706177
MIRT454588	hsa-miR-367-3p	HITS-CLIP	23706177
MIRT454587	hsa-miR-92a-3p	HITS-CLIP	23706177
MIRT454586	hsa-miR-92b-3p	HITS-CLIP	23706177
MIRT680901	hsa-miR-6849-3p	HITS-CLIP	23706177
MIRT680900	hsa-miR-6742-3p	HITS-CLIP	23706177
MIRT680899	hsa-miR-766-3p	HITS-CLIP	23706177
MIRT680898	hsa-miR-6776-5p	HITS-CLIP	23706177
MIRT454585	hsa-miR-5186	HITS-CLIP	23706177
MIRT454583	hsa-miR-767-5p	HITS-CLIP	23706177
MIRT680897	hsa-miR-661	HITS-CLIP	23706177
MIRT680896	hsa-miR-6512-3p	HITS-CLIP	23706177
MIRT680895	hsa-miR-6720-5p	HITS-CLIP	23706177
MIRT454582	hsa-miR-500a-3p	HITS-CLIP	23706177
MIRT680894	hsa-miR-1262	HITS-CLIP	23706177
MIRT680893	hsa-miR-4701-3p	HITS-CLIP	23706177
MIRT680892	hsa-miR-6736-5p	HITS-CLIP	23706177
MIRT632405	hsa-miR-4695-5p	HITS-CLIP	23824327
MIRT632404	hsa-miR-4779	HITS-CLIP	23824327
MIRT632403	hsa-miR-383-3p	HITS-CLIP	23824327
MIRT666257	hsa-miR-4284	HITS-CLIP	23824327
MIRT666256	hsa-miR-24-3p	HITS-CLIP	23824327
MIRT632402	hsa-miR-4266	HITS-CLIP	23824327
MIRT632401	hsa-miR-7977	HITS-CLIP	23824327
MIRT632400	hsa-miR-651-5p	HITS-CLIP	23824327
MIRT632406	hsa-miR-503-5p	HITS-CLIP	23824327
MIRT632405	hsa-miR-4695-5p	HITS-CLIP	23824327
MIRT632404	hsa-miR-4779	HITS-CLIP	23824327
MIRT632403	hsa-miR-383-3p	HITS-CLIP	23824327
MIRT666257	hsa-miR-4284	HITS-CLIP	23824327
MIRT666256	hsa-miR-24-3p	HITS-CLIP	23824327
MIRT632402	hsa-miR-4266	HITS-CLIP	23824327
MIRT632400	hsa-miR-651-5p	HITS-CLIP	23824327
MIRT653615	hsa-miR-3129-3p	HITS-CLIP	23824327
MIRT653614	hsa-miR-5583-5p	HITS-CLIP	23824327
MIRT653613	hsa-miR-7109-3p	HITS-CLIP	23824327
MIRT653612	hsa-miR-4506	HITS-CLIP	23824327
MIRT653611	hsa-miR-186-3p	HITS-CLIP	23824327
MIRT653610	hsa-miR-6747-3p	HITS-CLIP	23824327
MIRT653609	hsa-miR-150-5p	HITS-CLIP	23824327
MIRT653608	hsa-miR-6778-3p	HITS-CLIP	23824327
MIRT653607	hsa-miR-3199	HITS-CLIP	23824327
MIRT653606	hsa-miR-8052	HITS-CLIP	23824327
MIRT653605	hsa-miR-365a-5p	HITS-CLIP	23824327
MIRT653604	hsa-miR-365b-5p	HITS-CLIP	23824327
MIRT632406	hsa-miR-503-5p	HITS-CLIP	23824327
MIRT632405	hsa-miR-4695-5p	HITS-CLIP	23824327
MIRT632404	hsa-miR-4779	HITS-CLIP	23824327
MIRT632403	hsa-miR-383-3p	HITS-CLIP	23824327
MIRT632402	hsa-miR-4266	HITS-CLIP	23824327
MIRT632401	hsa-miR-7977	HITS-CLIP	23824327
MIRT632400	hsa-miR-651-5p	HITS-CLIP	23824327
MIRT454593	hsa-miR-3145-5p	PAR-CLIP	23592263
MIRT454592	hsa-miR-508-5p	PAR-CLIP	23592263
MIRT454591	hsa-miR-25-3p	PAR-CLIP	23592263
MIRT454590	hsa-miR-32-5p	PAR-CLIP	23592263
MIRT454589	hsa-miR-363-3p	PAR-CLIP	23592263
MIRT454588	hsa-miR-367-3p	PAR-CLIP	23592263
MIRT454587	hsa-miR-92a-3p	PAR-CLIP	23592263
MIRT454586	hsa-miR-92b-3p	PAR-CLIP	23592263
MIRT454585	hsa-miR-5186	PAR-CLIP	23592263
MIRT454584	hsa-miR-4537	PAR-CLIP	23592263
MIRT454583	hsa-miR-767-5p	PAR-CLIP	23592263
MIRT454582	hsa-miR-500a-3p	PAR-CLIP	23592263
MIRT454581	hsa-miR-455-3p	PAR-CLIP	23592263
MIRT454580	hsa-miR-6516-5p	PAR-CLIP	23592263
MIRT454593	hsa-miR-3145-5p	HITS-CLIP	23706177
MIRT454592	hsa-miR-508-5p	HITS-CLIP	23706177
MIRT454591	hsa-miR-25-3p	HITS-CLIP	23706177
MIRT454590	hsa-miR-32-5p	HITS-CLIP	23706177
MIRT454589	hsa-miR-363-3p	HITS-CLIP	23706177
MIRT454588	hsa-miR-367-3p	HITS-CLIP	23706177
MIRT454587	hsa-miR-92a-3p	HITS-CLIP	23706177
MIRT454586	hsa-miR-92b-3p	HITS-CLIP	23706177
MIRT680901	hsa-miR-6849-3p	HITS-CLIP	23706177
MIRT680900	hsa-miR-6742-3p	HITS-CLIP	23706177
MIRT680899	hsa-miR-766-3p	HITS-CLIP	23706177
MIRT680898	hsa-miR-6776-5p	HITS-CLIP	23706177
MIRT454585	hsa-miR-5186	HITS-CLIP	23706177
MIRT454583	hsa-miR-767-5p	HITS-CLIP	23706177
MIRT680897	hsa-miR-661	HITS-CLIP	23706177
MIRT680896	hsa-miR-6512-3p	HITS-CLIP	23706177
MIRT680895	hsa-miR-6720-5p	HITS-CLIP	23706177
MIRT454582	hsa-miR-500a-3p	HITS-CLIP	23706177
MIRT680894	hsa-miR-1262	HITS-CLIP	23706177
MIRT680893	hsa-miR-4701-3p	HITS-CLIP	23706177
MIRT680892	hsa-miR-6736-5p	HITS-CLIP	23706177
MIRT632405	hsa-miR-4695-5p	HITS-CLIP	23824327
MIRT632404	hsa-miR-4779	HITS-CLIP	23824327
MIRT632403	hsa-miR-383-3p	HITS-CLIP	23824327
MIRT666257	hsa-miR-4284	HITS-CLIP	23824327
MIRT666256	hsa-miR-24-3p	HITS-CLIP	23824327
MIRT632402	hsa-miR-4266	HITS-CLIP	23824327
MIRT632401	hsa-miR-7977	HITS-CLIP	23824327
MIRT632400	hsa-miR-651-5p	HITS-CLIP	23824327
MIRT632406	hsa-miR-503-5p	HITS-CLIP	23824327
MIRT632405	hsa-miR-4695-5p	HITS-CLIP	23824327
MIRT632404	hsa-miR-4779	HITS-CLIP	23824327
MIRT632403	hsa-miR-383-3p	HITS-CLIP	23824327
MIRT666257	hsa-miR-4284	HITS-CLIP	23824327
MIRT666256	hsa-miR-24-3p	HITS-CLIP	23824327
MIRT632402	hsa-miR-4266	HITS-CLIP	23824327
MIRT632400	hsa-miR-651-5p	HITS-CLIP	23824327
MIRT653615	hsa-miR-3129-3p	HITS-CLIP	23824327
MIRT653614	hsa-miR-5583-5p	HITS-CLIP	23824327
MIRT653613	hsa-miR-7109-3p	HITS-CLIP	23824327
MIRT653612	hsa-miR-4506	HITS-CLIP	23824327
MIRT653611	hsa-miR-186-3p	HITS-CLIP	23824327
MIRT653610	hsa-miR-6747-3p	HITS-CLIP	23824327
MIRT653609	hsa-miR-150-5p	HITS-CLIP	23824327
MIRT653608	hsa-miR-6778-3p	HITS-CLIP	23824327
MIRT653607	hsa-miR-3199	HITS-CLIP	23824327
MIRT653606	hsa-miR-8052	HITS-CLIP	23824327
MIRT653605	hsa-miR-365a-5p	HITS-CLIP	23824327
MIRT653604	hsa-miR-365b-5p	HITS-CLIP	23824327
MIRT632406	hsa-miR-503-5p	HITS-CLIP	23824327
MIRT632405	hsa-miR-4695-5p	HITS-CLIP	23824327
MIRT632404	hsa-miR-4779	HITS-CLIP	23824327
MIRT632403	hsa-miR-383-3p	HITS-CLIP	23824327
MIRT632402	hsa-miR-4266	HITS-CLIP	23824327
MIRT632401	hsa-miR-7977	HITS-CLIP	23824327
MIRT632400	hsa-miR-651-5p	HITS-CLIP	23824327
MIRT454593	hsa-miR-3145-5p	PAR-CLIP	23592263
MIRT454592	hsa-miR-508-5p	PAR-CLIP	23592263
MIRT454591	hsa-miR-25-3p	PAR-CLIP	23592263
MIRT454590	hsa-miR-32-5p	PAR-CLIP	23592263
MIRT454589	hsa-miR-363-3p	PAR-CLIP	23592263
MIRT454588	hsa-miR-367-3p	PAR-CLIP	23592263
MIRT454587	hsa-miR-92a-3p	PAR-CLIP	23592263
MIRT454586	hsa-miR-92b-3p	PAR-CLIP	23592263
MIRT454585	hsa-miR-5186	PAR-CLIP	23592263
MIRT454584	hsa-miR-4537	PAR-CLIP	23592263
MIRT454583	hsa-miR-767-5p	PAR-CLIP	23592263
MIRT454582	hsa-miR-500a-3p	PAR-CLIP	23592263
MIRT454581	hsa-miR-455-3p	PAR-CLIP	23592263
MIRT454580	hsa-miR-6516-5p	PAR-CLIP	23592263
MIRT1359926	hsa-miR-1913	CLIP-seq
MIRT1359927	hsa-miR-3168	CLIP-seq
MIRT1359928	hsa-miR-3189-5p	CLIP-seq
MIRT1359929	hsa-miR-324-3p	CLIP-seq
MIRT1359930	hsa-miR-4438	CLIP-seq
MIRT1359931	hsa-miR-4758-3p	CLIP-seq
MIRT1359932	hsa-miR-4777-5p	CLIP-seq
MIRT1359933	hsa-miR-518d-5p	CLIP-seq
MIRT1359934	hsa-miR-519b-5p	CLIP-seq
MIRT1359935	hsa-miR-519c-5p	CLIP-seq
MIRT1359936	hsa-miR-520c-5p	CLIP-seq
MIRT1359937	hsa-miR-526a	CLIP-seq
MIRT1359938	hsa-miR-101	CLIP-seq
MIRT1359939	hsa-miR-124	CLIP-seq
MIRT1359940	hsa-miR-1271	CLIP-seq
MIRT1359941	hsa-miR-1301	CLIP-seq
MIRT1359942	hsa-miR-144	CLIP-seq
MIRT1359943	hsa-miR-182	CLIP-seq
MIRT1359944	hsa-miR-2054	CLIP-seq
MIRT1359945	hsa-miR-217	CLIP-seq
MIRT1359946	hsa-miR-2964a-3p	CLIP-seq
MIRT1359947	hsa-miR-297	CLIP-seq
MIRT1359948	hsa-miR-302f	CLIP-seq
MIRT1359949	hsa-miR-3185	CLIP-seq
MIRT1359950	hsa-miR-33a	CLIP-seq
MIRT1359951	hsa-miR-33b	CLIP-seq
MIRT1359952	hsa-miR-3647-3p	CLIP-seq
MIRT1359953	hsa-miR-3671	CLIP-seq
MIRT1359954	hsa-miR-3692	CLIP-seq
MIRT1359955	hsa-miR-380	CLIP-seq
MIRT1359956	hsa-miR-382	CLIP-seq
MIRT1359957	hsa-miR-3922-5p	CLIP-seq
MIRT1359958	hsa-miR-4418	CLIP-seq
MIRT1359959	hsa-miR-4433	CLIP-seq
MIRT1359960	hsa-miR-4455	CLIP-seq
MIRT1359961	hsa-miR-4459	CLIP-seq
MIRT1359962	hsa-miR-4495	CLIP-seq
MIRT1359963	hsa-miR-4635	CLIP-seq
MIRT1359964	hsa-miR-4639-5p	CLIP-seq
MIRT1359965	hsa-miR-4642	CLIP-seq
MIRT1359966	hsa-miR-4643	CLIP-seq
MIRT1359967	hsa-miR-4646-5p	CLIP-seq
MIRT1359968	hsa-miR-4653-3p	CLIP-seq
MIRT1359969	hsa-miR-466	CLIP-seq
MIRT1359970	hsa-miR-4660	CLIP-seq
MIRT1359971	hsa-miR-4709-3p	CLIP-seq
MIRT1359972	hsa-miR-4753-5p	CLIP-seq
MIRT1359973	hsa-miR-4768-3p	CLIP-seq
MIRT1359974	hsa-miR-4775	CLIP-seq
MIRT1359975	hsa-miR-4789-3p	CLIP-seq
MIRT1359976	hsa-miR-499-3p	CLIP-seq
MIRT1359977	hsa-miR-499a-3p	CLIP-seq
MIRT1359978	hsa-miR-5047	CLIP-seq
MIRT1359979	hsa-miR-506	CLIP-seq
MIRT1359980	hsa-miR-509-3-5p	CLIP-seq
MIRT1359981	hsa-miR-509-5p	CLIP-seq
MIRT1359982	hsa-miR-548an	CLIP-seq
MIRT1359983	hsa-miR-567	CLIP-seq
MIRT1359984	hsa-miR-590-3p	CLIP-seq
MIRT1359985	hsa-miR-609	CLIP-seq
MIRT1359986	hsa-miR-96	CLIP-seq
MIRT2106560	hsa-miR-1305	CLIP-seq
MIRT2106561	hsa-miR-2053	CLIP-seq
MIRT2106562	hsa-miR-3152-3p	CLIP-seq
MIRT2106563	hsa-miR-3163	CLIP-seq
MIRT1359953	hsa-miR-3671	CLIP-seq
MIRT1359954	hsa-miR-3692	CLIP-seq
MIRT2106564	hsa-miR-374c	CLIP-seq
MIRT2106565	hsa-miR-4282	CLIP-seq
MIRT2106566	hsa-miR-4735-5p	CLIP-seq
MIRT1359974	hsa-miR-4775	CLIP-seq
MIRT2106567	hsa-miR-545	CLIP-seq
MIRT2106568	hsa-miR-569	CLIP-seq
MIRT2106569	hsa-miR-655	CLIP-seq
MIRT2106560	hsa-miR-1305	CLIP-seq
MIRT2106567	hsa-miR-545	CLIP-seq
MIRT2625085	hsa-miR-3913-3p	CLIP-seq
MIRT1359930	hsa-miR-4438	CLIP-seq
MIRT2625086	hsa-miR-489	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000139	Component	Golgi membrane	TAS
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005887	Component	Integral component of plasma membrane	TAS	9096318
GO:0008521	Function	Acetyl-CoA transmembrane transporter activity	TAS
GO:0015295	Function	Solute:proton symporter activity	IBA	21873635
GO:0015876	Process	Acetyl-CoA transport	IEA
GO:0016020	Component	Membrane	HDA	19946888
GO:0030509	Process	BMP signaling pathway	IDA	25402622
GO:0055085	Process	Transmembrane transport	TAS
GO:0060395	Process	SMAD protein signal transduction	IDA	25402622
GO:1902600	Process	Proton transmembrane transport	IEA

Other IDs

• MIM: 603690
• HGNC: 95
• e!Ensembl: ENSG00000169359

Protein

• UniProt ID: O00400
• Protein name: Acetyl-coenzyme A transporter 1 (AT-1) (Acetyl-CoA transporter 1) (Solute carrier family 33 member 1)
• Protein function: Acetyl-CoA transporter that mediates active acetyl-CoA import through the endoplasmic reticulum (ER) membrane into the ER lumen where specific ER-based acetyl-CoA:lysine acetyltransferases are responsible for the acetylation of ER-based protein
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF13000	Acatn	74 → 289	Acetyl-coenzyme A transporter 1	Family
  PF13000	Acatn	282 → 545	Acetyl-coenzyme A transporter 1	Family

• Tissue specificity: TISSUE SPECIFICITY: Ubiquitous. Detected in heart, brain, placenta, lung, liver, skeletal muscle, kidney and pancreas. With strongest signals in pancreas. {ECO:0000269|PubMed:9096318}.
• Sequence:

  MSPTISHKDSSRQRRPGNFSHSLDMKSGPLPPGGWDDSHLDSAGREGDREALLGDTGTGD
  FLKAPQSFRAELSSILLLLFLYVLQGIPLGLAGSIPLILQSKNVSYTDQAFFSFVFWPFS
  LKLLWAPLVDAVYVKNFGRRKSWLVPTQYILGLFMIYLSTQVDRLLGNTDDRTPDVIALT
  VAFFLFEFLAATQDIAVDGWALTMLSRENVGYASTCNSVGQTAGYFLGNVLFLALESADF
  CNKYLRFQPQPRGIVTLSDFLFFWGTVFLITTTLVALLKKENEVSVVKEETQGITDTYKL
  LFAIIKMPAVLTFCLLILTAKIGFSAADAVTGLKLVEEGVPKEHLALLAVPMVPLQIILP
  LIISKYTAGPQPLNTFYKAMPYRLLLGLEYALLVWWTPKVEHQGGFPIYYYIVVLLSYAL
  HQVTVYSMYVSIMAFNAKVSDPLIGGTYMTLLNTVSNLGGNWPSTVALWLVDPLTVKECV
  GASNQNCRTPDAVELCKKLGGSCVTALDGYYVESIICVFIGFGWWFFLGPKFKKLQDEGS
  SSWKCKRNN

• Sequence length: 549

Pathways

KEGG:

Glycosphingolipid biosynthesis - ganglio series
Metabolic pathways

Reactome:

Transport of vitamins, nucleosides, and related molecules
Defective SLC33A1 causes spastic paraplegia 42 (SPG42)

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Cataract	Cataract, Pseudoaphakia	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	22243965
Colorectal cancer	Colorectal Carcinoma	rs137854568, rs137854573, rs137854575, rs387906234, rs121908380, rs121908702, rs267606674, rs794729661, rs121909055, rs281865417, rs267606884, rs28934575, rs587776769, rs104893815, rs587776800, rs63750198, rs63751109, rs863223312, rs63750710, rs63751615, rs63750206, rs63750781, rs63750899, rs63750691, rs63750217, rs121912965, rs63749939, rs63751194, rs63750693, rs63750540, rs63751221, rs193922370, rs80359596, rs397514632, rs483352909, rs200495564, rs397514684, rs397516436, rs398122386, rs79512956, rs74953290, rs587779001, rs63750677, rs63749837, rs267607816, rs63751715, rs267607819, rs267607815, rs267607822, rs63749906, rs587778883, rs63750472, rs63751012, rs63750715, rs63750580, rs267607706, rs267607709, rs267607710, rs587778894, rs63750749, rs63750483, rs63751015, rs63751153, rs63751094, rs63751118, rs63750316, rs63749981, rs587778906, rs267607821, rs587778908, rs63750020, rs587778909, rs63750713, rs267607825, rs63751592, rs281864936, rs587778913, rs587778914, rs63749795, rs63750855, rs63749916, rs63749923, rs63751472, rs63751689, rs267607832, rs267607837, rs267607836, rs587778923, rs63750028, rs587778928, rs587778929, rs587778930, rs63751277, rs587778933, rs267607842, rs267607843, rs63750192, rs587778934, rs63750193, rs587778937, rs587778938, rs267607845, rs63751244, rs63751393, rs63751460, rs267607849, rs267607853, rs267607856, rs267607850, rs63751657, rs267607854, rs267607852, rs587778942, rs63750309, rs63750587, rs63749863, rs63751486, rs63750016, rs63749868, rs63750375, rs63750035, rs63750604, rs63750386, rs63750150, rs63750486, rs63751428, rs267607866, rs63749986, rs63751594, rs63750152, rs63750850, rs267607867, rs267607868, rs63751632, rs267607871, rs63751892, rs587778956, rs63750469, rs587778958, rs63749792, rs267607875, rs63751255, rs281864938, rs63751202, rs63750726, rs63751310, rs63749900, rs587778964, rs267607879, rs267607878, rs587778966, rs267607883, rs267607887, rs63750061, rs63750663, rs587778968, rs587778971, rs63750809, rs63749867, rs63750864, rs587778972, rs63751275, rs267607718, rs267607722, rs63750769, rs267607717, rs587778973, rs267607716, rs267607720, rs63749995, rs63750859, rs587778975, rs63750114, rs587778976, rs63750603, rs267607889, rs267607723, rs63750561, rs63750499, rs63751642, rs63751022, rs587778981, rs63750971, rs267607898, rs267607906, rs267607903, rs587778989, rs587778992, rs267607894, rs267607901, rs267607892, rs63750437, rs587778997, rs587778998, rs63750005, rs63750641, rs63751421, rs11541859, rs63750266, rs111052004, rs267607726, rs267607727, rs63750453, rs267607734, rs267607735, rs63751665, rs267607736, rs267607732, rs63749816, rs63750539, rs267607739, rs587779006, rs587779008, rs267607745, rs267607742, rs63751595, rs267607743, rs587779010, rs587779012, rs63750057, rs63749818, rs63751124, rs587779014, rs587779015, rs63749820, rs63751302, rs267607750, rs267607751, rs267607749, rs63750891, rs63749959, rs63749804, rs267607765, rs267607760, rs587779021, rs267607759, rs63750515, rs587779023, rs63751021, rs63751480, rs267607772, rs267607773, rs587779024, rs63751653, rs587779027, rs267607767, rs587779029, rs63750706, rs63750385, rs267607774, rs267607778, rs267607780, rs587779034, rs63751711, rs267607784, rs587779035, rs63750823, rs63750822, rs267607787, rs63750303, rs63749839, rs63749827, rs267607789, rs267607790, rs267607791, rs267607786, rs267607771, rs267607795, rs267607794, rs267607788, rs267607799, rs267607801, rs587779045, rs63750034, rs587779047, rs63750216, rs63751707, rs63751598, rs267607803, rs267607777, rs63750144, rs267607805, rs63750547, rs63750489, rs63750993, rs587779054, rs63751259, rs63749926, rs63750796, rs587779058, rs63750745, rs63750582, rs180177084, rs587779866, rs200389141, rs587779950, rs587780104, rs587780183, rs587778536, rs587780683, rs587781554, rs267607712, rs587777627, rs587783057, rs730881734, rs41542214, rs730881273, rs786203456, rs786201990, rs786202767, rs748005072, rs786204317, rs786204318, rs797045117, rs63750549, rs863225383, rs863225384, rs863225373, rs863225376, rs863225377, rs863225378, rs863225379, rs863225380, rs863225381, rs63750059, rs267607823, rs864622457, rs869312767, rs869312753, rs876661059, rs876658915, rs876658923, rs876660860, rs876660822, rs876660458, rs876660214, rs876658657, rs876658247, rs876659226, rs876658821, rs876660589, rs876659068, rs876659681, rs876659608, rs878853794, rs878853778, rs878853780, rs878853785, rs886039423, rs886039424, rs1057517543, rs1057517541, rs756843954, rs1057517617, rs1057517558, rs1057519256, rs1060500689, rs764085979, rs1060500707, rs1060500699, rs1060500706, rs1060500703, rs1064795341, rs1064793607, rs1064794348, rs1064795441, rs1064794373, rs1064793172, rs1064794122, rs1064795515, rs1064794331, rs63750978, rs1114167435, rs1553641362, rs63751448, rs1553648029, rs1553648058, rs587778903, rs1553653237, rs1553664353, rs267607744, rs1553647995, rs1553648047, rs1553653084, rs1553663750, rs1553664436, rs1553488015, rs1553637293, rs63750310, rs63750443, rs63751596, rs1553646681, rs550890395, rs1064796057, rs1553642079, rs1553648023, rs587782087, rs746536721, rs1553653037, rs1248251121, rs1553646602, rs1434898623, rs1553665683, rs1553648068, rs1553645331, rs1553644123, rs1553658246, rs1553651299, rs1553648149, rs1553663159, rs1302248679, rs1553664119, rs1553658009, rs1553665977, rs1416171624, rs1553663834, rs1553664617, rs1553664702, rs1553647969, rs1553648040, rs1437454428, rs1553641273, rs63751101, rs1553646764, rs1553648225, rs1554082118, rs1553648201, rs1553638868, rs1553665866, rs376736188, rs1553642707, rs1553645226, rs1553652883, rs63751435, rs1553653115, rs1553653195, rs63750300, rs1553662622, rs1553658104, rs1553648220, rs1559544064, rs63750584, rs267608083, rs1559551570, rs1559575107, rs1559553501, rs1565986506, rs1559524405, rs1559553492, rs1559554339, rs1559588540, rs1559558071, rs761329565, rs1559521039, rs1559574795, rs1567221417, rs1559578422, rs1481129490, rs1570714352, rs779783209, rs1575376830, rs1575469070, rs1575537843, rs1575620443, rs1575621506, rs587779022, rs1575414904, rs1575449093, rs1575469505, rs1575536254, rs1575537933, rs1575632112, rs1575639851, rs1575441094, rs1575449402, rs267607831, rs2081922847, rs2083403132, rs2085415927, rs2085469647, rs2043913790, rs147542208
Developmental delay	Global developmental delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291, rs886041382, rs1057518991, rs1057518699, rs753254213, rs748294403, rs762552974, rs1135401795, rs1553121073, rs1553122926, rs1364690005, rs1554086554, rs1554210415, rs1554168326, rs1554776342, rs1553873247, rs1567860112, rs779009256, rs1557447255, rs1564568350, rs780011005, rs1597464953, rs1200336864, rs1569513017, rs1587459606, rs1570332505, rs748888652, rs1575155995, rs2087029320, rs1589669105, rs1601769604, rs1184981709, rs749201074
Epilepsy	Epilepsies, Partial	rs113994140, rs28937874, rs1589762127, rs104894166, rs28939075, rs2134001459, rs104894167, rs119488099, rs119488100, rs387906420, rs121917752, rs121918622, rs281865564, rs387907313, rs397514670, rs768241563, rs587776973, rs587776974, rs587776975, rs879255234, rs587776976, rs587776977, rs121917993, rs398123588, rs13306758, rs587777458, rs587777459, rs541024038, rs797044545, rs730882240, rs786205703, rs794726859, rs796053126, rs796053035, rs796053216, rs796052839, rs869025201, rs797044999, rs797044998, rs797045045, rs794726762, rs869312971, rs869312972, rs879255652, rs886037938, rs886037958, rs886037959, rs886037960, rs886037961, rs886037962, rs886037965, rs886037966, rs886039245, rs886039246, rs886039251, rs886039252, rs772872014, rs886039253, rs886039256, rs757511744, rs886039261, rs886039263, rs578185749, rs886039266, rs886039268, rs886039269, rs886039273, rs368820286, rs1057518801, rs1057518688, rs1057519107, rs1057519273, rs752753379, rs767795673, rs1057519424, rs755946598, rs760609867, rs1057521066, rs1057524233, rs1060501488, rs1060501487, rs755127868, rs751533302, rs771373457, rs1475605360, rs1555401942, rs1553567864, rs200661329, rs766667249, rs1556607762, rs1555882921, rs1555882867, rs1555900914, rs1553546836, rs77216276, rs755595256, rs747661902, rs2105890565, rs1021001959, rs1555441032, rs1555439541, rs1556526609, rs1315483224, rs759952667, rs1555885023, rs1553456695, rs1555942720, rs1569083500, rs1559127505, rs1206309859, rs1567139896, rs1567134495, rs1431914212, rs1569166925, rs1569255443, rs1568955379, rs1567152003, rs374158137, rs1567129567, rs1569523728, rs1568991466, rs1569186093, rs1569254004, rs1372605067, rs1569067939, rs1568963062, rs1563959514, rs1569012755, rs1559118914, rs1602338615, rs1596522356, rs1364913665, rs1596522300, rs1596526976, rs1229740428, rs1596385588, rs1596500172, rs1596505517, rs1601925213, rs1601970168, rs1602010382, rs1602903591, rs1603014297, rs1603014708, rs1601875057, rs1601970824, rs1601755632, rs1587393982, rs1592977444, rs1575562076, rs1570998206, rs1588057922, rs1596528731, rs1602349641, rs1587401875, rs2065899210, rs1596526915, rs2093486364, rs2056165149, rs2056100951, rs781482552, rs1899868619, rs1900088045, rs1898675878, rs1898686157, rs1898837245, rs1898844513, rs2082841677, rs2085727988, rs2092933941, rs2091657024, rs1899864955, rs1898844907, rs2083056830, rs2084070588, rs1899713412, rs2082695884, rs1977106116, rs1977105425, rs1443687532	30531953
Nystagmus	Nystagmus	rs137852207, rs137852208, rs1928435502, rs137852209, rs137852210, rs1929191668, rs137852211, rs137852212, rs2124209414, rs387906720, rs387906721, rs1602791884, rs786205896
Spastic paraplegia	Spastic Paraplegia, Spastic Paraplegia 42, Autosomal Dominant, Autosomal dominant spastic paraplegia type 42	rs118204049, rs121918262, rs104894490, rs119476046, rs281865117, rs281865118, rs137853017, rs72554620, rs121908610, rs121908611, rs121908613, rs116171274, rs121434442, rs121434443, rs137852520, rs137852521, rs137852524, rs137852525, rs879253716, rs387906970, rs587776888, rs759947457, rs587776891, rs753426920, rs387907057, rs397514478, rs387907285, rs387907287, rs387907288, rs281865120, rs397514513, rs141431913, rs312262755, rs398123013, rs398123014, rs398122382, rs745744124, rs483352924, rs483352925, rs587777222, rs587779388, rs587783179, rs587783772, rs587784383, rs587784384, rs730882249, rs762947018, rs786204628, rs141315518, rs786204416, rs786204750, rs770866403, rs775059063, rs797044787, rs794729214, rs794729215, rs797045050, rs370828455, rs146262009, rs797045244, rs780247476, rs185246578, rs766773277, rs863224494, rs752669339, rs869320690, rs200737038, rs869312914, rs752283089, rs751713917, rs756205995, rs875989787, rs875989845, rs375817528, rs200440467, rs876661295, rs794727501, rs770285398, rs878854745, rs878854975, rs878855013, rs878855011, rs878855083, rs878853979, rs879255397, rs879255396, rs886039410, rs886039409, rs886039407, rs886039408, rs886039405, rs886039406, rs752598529, rs752059006, rs202199411, rs886041949, rs886041127, rs886042238, rs1057517123, rs747868017, rs1057517294, rs565203731, rs753205260, rs1057517002, rs779338945, rs755186798, rs1057517250, rs1057517060, rs753012964, rs758572409, rs1057516959, rs1057516438, rs145766983, rs1057516689, rs1057516932, rs1057516635, rs1057517366, rs759166250, rs1057517138, rs761089024, rs1057517297, rs1057517311, rs1057516779, rs1057517039, rs1057517285, rs1057516365, rs1057516625, rs1057516987, rs1057516837, rs1057518016, rs1057518880, rs1057518697, rs1057519289, rs1057519290, rs1057519291, rs1057519292, rs1057519293, rs1057521784, rs1060499756, rs1060499771, rs1060502224, rs1060502523, rs371019314, rs1060503431, rs774906736, rs372350326, rs776976178, rs370837940, rs1064793162, rs1064793920, rs1555177629, rs1555394376, rs377445018, rs767024102, rs768176054, rs1557090943, rs1557090161, rs1555178616, rs1555251539, rs754439135, rs1321353475, rs1555186937, rs767871841, rs867249938, rs1440541889, rs1555456727, rs1268722908, rs1557092247, rs1557092248, rs765632065, rs773246271, rs1554380391, rs1554517327, rs200268523, rs1156566314, rs1160357920, rs773182375, rs768366199, rs774809466, rs1555542889, rs915291720, rs1021034246, rs769676029, rs746979262, rs1033093801, rs955142329, rs760559263, rs1557091773, rs1372213267, rs1557091678, rs1402429085, rs1555179091, rs1555179087, rs374128662, rs142209254, rs1553259463, rs1555254256, rs755820725, rs1335804396, rs568176223, rs1555979596, rs780030221, rs1553314978, rs923921184, rs1556840029, rs374894037, rs1553262438, rs1555249362, rs950356390, rs1557091278, rs1557090220, rs1259615333, rs1555249276, rs1555249425, rs1555249479, rs1555249555, rs1555250949, rs1555252349, rs1167474602, rs1175545518, rs1555249648, rs1555249878, rs1400601705, rs1555252086, rs745907077, rs1555249371, rs1555249904, rs1555393393, rs1028098148, rs766711286, rs767164213, rs1470672632, rs1555252184, rs1224762841, rs769329153, rs1555254734, rs1555397331, rs941230062, rs545219731, rs200832994, rs1555250255, rs1240368715, rs1555393338, rs1049504575, rs1485209013, rs868672014, rs1214483973, rs558285072, rs1555398241, rs1186788102, rs981804211, rs935301743, rs1555251822, rs1555255676, rs369459721, rs772400670, rs1558119445, rs759033144, rs1565705251, rs1566055368, rs1566058677, rs1006060877, rs1448182827, rs1569544908, rs754944359, rs754944429, rs1569544723, rs1569285562, rs367916692, rs1566893090, rs1177577061, rs1566881181, rs1569280986, rs1590847310, rs746220436, rs1569281085, rs529495094, rs1563920268, rs1563920252, rs1563920172, rs1563919973, rs1563920000, rs1563920132, rs751568153, rs1569274606, rs1455411788, rs1571908452, rs768640920, rs1578729121, rs1585896928, rs1585808059, rs1588001500, rs1011987148, rs1594915468, rs1594925773, rs1361370524, rs1593121507, rs1365858851, rs1593125341, rs1181477970, rs1593129673, rs1593133395, rs1593133714, rs1593144167, rs1593144544, rs1593144887, rs767435985, rs1593147785, rs994374354, rs1593157923, rs1594900921, rs1594906944, rs1594910045, rs1594913346, rs1594930532, rs1594938339, rs140354725, rs1418885000, rs1603275195, rs1603276234, rs1574077569, rs1603275315, rs1587878722, rs1587879449, rs1593133607, rs770490672, rs1602099961, rs778722037, rs756830713, rs1593121484, rs763869212, rs1594912625, rs1597556143, rs778113360, rs377278120, rs933233143, rs1572337800, rs1573072864, rs1593125290, rs1593126754, rs1593123432, rs1571563769, rs1584514057, rs772704931, rs1587878961, rs1802811311, rs1052410160, rs1298132281, rs748480664, rs139015012, rs1340636078, rs927804920, rs1883405453, rs1883566609, rs1868403104, rs1868480299, rs1868481514, rs1868567420, rs1868626730, rs1868628768, rs1868872666, rs1869006331, rs769212398, rs757179309, rs2039098098, rs2039228359, rs774867891, rs2039613696, rs2039616151, rs2039786680, rs2039997721, rs748149642, rs2040215878, rs760484081, rs1204169977, rs367665974, rs201311640, rs1034820850, rs1930458591, rs1882179247, rs2039758874, rs1885117995, rs1805435464	29903433, 25402622, 19061983

Unknown
Disease term	Disease name	Evidence	References	Source
Spastic Paraplegia	hereditary spastic paraplegia 42			GenCC
Neuroticism	Neuroticism			GWAS
Dementia	Dementia			GWAS
Insomnia	Insomnia			GWAS

Associations from Text Mining
Disease Name	Relationship Type	References
Cataract	Associate	22243965
Familial apoceruloplasmin deficiency	Associate	22243965
Genetic Diseases Inborn	Associate	22243965
Hearing Loss	Associate	22243965
Hepatolenticular Degeneration	Associate	22243965
Menkes Kinky Hair Syndrome	Associate	22243965
Spastic paraplegia 10 autosomal dominant	Associate	19061983
Spastic Paraplegia 42 Autosomal Dominant	Associate	19061983
Spastic Paraplegia Hereditary	Associate	19061983, 20461110