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
• 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:0005515	Function	Protein binding	IPI	35156780, 36012204
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IDA	20826464, 24828632
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	TAS	9096318
GO:0005886	Component	Plasma membrane	TAS	9096318
GO:0008521	Function	Acetyl-CoA transmembrane transporter activity	IDA	20826464, 24828632
GO:0008521	Function	Acetyl-CoA transmembrane transporter activity	IEA
GO:0008521	Function	Acetyl-CoA transmembrane transporter activity	TAS	9096318
GO:0016020	Component	Membrane	HDA	19946888
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	TAS	9096318
GO:0035348	Process	Acetyl-CoA transmembrane transport	IDA	20826464, 24828632
GO:0035348	Process	Acetyl-CoA transmembrane transport	IEA
GO:0042803	Function	Protein homodimerization activity	IDA	24828632
GO:0055085	Process	Transmembrane transport	TAS

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

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
Failure to thrive	Likely pathogenic	rs1266904735	RCV001003585	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Global developmental delay	Likely pathogenic	rs1266904735	RCV001003585	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hereditary spastic paraplegia 42	Pathogenic	rs121909484	RCV000006506	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Huppke-Brendel syndrome	Pathogenic	rs2109312898, rs281875283, rs863223316, rs1308995894, rs1577482029, rs1577455542, rs1577455897	RCV003771242 RCV000023323 RCV000023326 RCV000845255 RCV000845254 RCV000845257 RCV000845256	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hypothyroidism	Likely pathogenic	rs1266904735	RCV001003585	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Spastic paraplegia	Pathogenic	rs2109312898	RCV001382086	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 42	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CATARACT	—	CTD, GWAS catalog CTD, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic lymphocytic leukemia/small lymphocytic lymphoma	-	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL CATARACT, HEARING LOSS, SEVERE DEVELOPMENTAL DELAY SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL CATARACT-HEARING LOSS-SEVERE DEVELOPMENTAL DELAY SYNDROME	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEMENTIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEVELOPMENTAL DISABILITIES	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial pancreatic carcinoma	-	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEARING IMPAIRMENT	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEARING LOSS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary spastic paraplegia	Uncertain significance; Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma	-	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUROTIC DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian cancer	-	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARTIAL EPILEPSY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SLC33A1-related disorder	Uncertain significance; Conflicting classifications of pathogenicity; Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SLC33A1-related hereditary spastic paraplegia	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPASTIC PARAPLEGIA 42, AUTOSOMAL DOMINANT	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spastic paraplegia, autosomal dominant	Likely benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPASTIC PARAPLEGIA, HEREDITARY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute Cerebrovascular Accidents	Stroke	BEFREE	23480670		★☆☆☆☆ Found in Text Mining only
Acute Coronary Syndrome	Coronary Syndrome	BEFREE	25762441		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	16369744		★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	BEFREE	8582102, 9330590		★☆☆☆☆ Found in Text Mining only
Adrenal Gland Neoplasms	Adrenal neoplasia	BEFREE	21143284, 7868875, 9330590		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	23506891		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis, Sporadic	Lateral Sclerosis	BEFREE	23506891		★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	BEFREE	23892268		★☆☆☆☆ Found in Text Mining only
Anxiety Disorders	Anxiety Disorder	BEFREE	23892268		★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm, Abdominal	Aortic Aneurysm	BEFREE	29359665		★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	11486244, 11897210, 15507206, 31595199		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	11457745		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	11486244, 11897210, 15507206, 27246357, 31595199		★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial Fibrillation	BEFREE	23210602		★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	27242167		★☆☆☆☆ Found in Text Mining only
Autosomal dominant spastic paraplegia type 42	Spastic Paraplegia	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Benign Prostatic Hyperplasia	Benign Prostatic Hyperplasia	BEFREE	27882567		★☆☆☆☆ Found in Text Mining only
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE	Bestrophinopathy	BEFREE	29359665		★☆☆☆☆ Found in Text Mining only
Brain Ischemia	Cerebral Ischemia	BEFREE	24414230		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	18310294, 19286759		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	18827978		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	10738546, 12676161, 16121033, 20537563, 9717050		★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	CTD_human_DG	22243965		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cataract	Cataract	Pubtator	22243965	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cataract	Cataract	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cerebellar atrophy	Cerebellar atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebral atrophy	Cerebral Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Cerebral Infarction	BEFREE	20731660		★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	31849284		★☆☆☆☆ Found in Text Mining only
Child Development Deviations	Development Disorder	CTD_human_DG	22243965		★☆☆☆☆ Found in Text Mining only
Child Development Disorders, Specific	Development Disorder	CTD_human_DG	22243965		★☆☆☆☆ Found in Text Mining only
Chronic heart failure	Heart Failure	BEFREE	27075034, 29286056		★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	BEFREE	10073605, 21640098, 28449154, 28542215, 29425281		★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	BEFREE	29155324		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	UNIPROT_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital cataract	Congenital Cataract	BEFREE	22243965		★☆☆☆☆ Found in Text Mining only
Congenital cataract-hearing loss-severe developmental delay syndrome	Congenital Cataract-Hearing Loss-Developmental Delay Syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL CATARACTS, HEARING LOSS, AND NEURODEGENERATION	Congenital Cataracts, Hearing Loss, And Neurodegeneration	GENOMICS_ENGLAND_DG	22243965, 25402622, 29903433		★☆☆☆☆ Found in Text Mining only
CONGENITAL CATARACTS, HEARING LOSS, AND NEURODEGENERATION	Congenital Cataracts, Hearing Loss, And Neurodegeneration	ORPHANET_DG	22243965		★☆☆☆☆ Found in Text Mining only
CONGENITAL CATARACTS, HEARING LOSS, AND NEURODEGENERATION	Congenital Cataracts, Hearing Loss, And Neurodegeneration	CLINVAR_DG	22243965		★☆☆☆☆ Found in Text Mining only
CONGENITAL CATARACTS, HEARING LOSS, AND NEURODEGENERATION	Congenital Cataracts, Hearing Loss, And Neurodegeneration	UNIPROT_DG	22243965		★☆☆☆☆ Found in Text Mining only
CONGENITAL CATARACTS, HEARING LOSS, AND NEURODEGENERATION	Congenital Cataracts, Hearing Loss, And Neurodegeneration	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Congenital posterior urethral valves	Congenital Posterior Urethral Valves	BEFREE	10353402		★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	10715259, 15569271, 27075034, 27321284, 28848201, 29286056, 29593122, 30687708, 9302352		★☆☆☆☆ Found in Text Mining only
Conn Adenoma	Conn Adenoma	BEFREE	7588380, 9024263		★☆☆☆☆ Found in Text Mining only
Conn Syndrome	Conn Syndrome	BEFREE	30518805, 7868875		★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	16820589, 23572029		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	10488959, 10615414, 16820589, 17069818		★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	16088850, 16820589		★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	BEFREE	28507470		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Depressive disorder	Mental Depression	BEFREE	15949885		★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Development Disorder	CTD_human_DG	22243965		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes	Diabetes	BEFREE	17761193, 28842434		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	17761193, 28842434		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	9218178		★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathy	Diabetic Nephropathy	BEFREE	10073605, 12716812		★☆☆☆☆ Found in Text Mining only
Dysmorphism	Dysmorphism	BEFREE	30051577		★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	BEFREE	19524223		★☆☆☆☆ Found in Text Mining only
Epilepsies, Partial	Epilepsy	GWASCAT_DG	30531953		★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	29223539		★☆☆☆☆ Found in Text Mining only
Essential Hypertension	Hypertension	BEFREE	10526907, 11246471, 11336183, 12627871, 18575418, 21557256, 22407378, 24131669, 9717050		★☆☆☆☆ Found in Text Mining only
Familial apoceruloplasmin deficiency	Apoceruloplasmin deficiency	Pubtator	22243965	Associate	★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	BEFREE	19628656		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Glomerulonephritis	Glomerulonephritis	BEFREE	10073605		★☆☆☆☆ Found in Text Mining only
Hearing Loss	Hearing loss	Pubtator	22243965	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Heart failure	Heart Failure	BEFREE	10715259, 15569271, 27321284, 29593122, 30687708, 9302352		★☆☆☆☆ Found in Text Mining only
Heart Failure, Right-Sided	Heart Failure	BEFREE	29593122		★☆☆☆☆ Found in Text Mining only
Henoch-Schoenlein Purpura	Henoch-Schonlein Nephritis	BEFREE	19061983, 27935820		★☆☆☆☆ Found in Text Mining only
Hepatoblastoma	Hepatoblastoma	BEFREE	27028410		★☆☆☆☆ Found in Text Mining only
Hepatolenticular Degeneration	Hepatolenticular degeneration	Pubtator	22243965	Associate	★☆☆☆☆ Found in Text Mining only
Hyperhomocysteinemia	Hyperhomocysteinemia	BEFREE	29296021		★☆☆☆☆ Found in Text Mining only
Hypertension, Renovascular	Hypertension	BEFREE	21143284, 29399101, 7868875		★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	10405780, 10726712, 10738546, 10779083, 11457745, 11566928, 11692158, 11727501, 12627871, 14597852, 14620933, 15117826, 15492474, 20223791, 21640098, 24131669, 24414230, 25990648, 26787451, 28483563, 28527699, 28750406, 28842434, 29223539, 29935157, 30326265, 30715101, 30842613, 31241170, 7743157, 8946073, 9218178, 9330590, 9431842, 9815152		★☆☆☆☆ Found in Text Mining only
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	BEFREE	9822439		★☆☆☆☆ Found in Text Mining only
Hypertrophic obstructive cardiomyopathy	Hypertrophic cardiomyopathy	BEFREE	9822439		★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	27572961		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	27242167		★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	BEFREE	15480097, 28669009		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	BEFREE	10073605, 20478903, 23762470, 28541811		★☆☆☆☆ Found in Text Mining only
Kidney Failure, Acute	Kidney Failure	BEFREE	11793101, 22639821, 30204779		★☆☆☆☆ Found in Text Mining only
Kidney Failure, Chronic	Kidney Failure	BEFREE	10073605		★☆☆☆☆ Found in Text Mining only
Left Ventricular Hypertrophy	Left Ventricular Hypertrophy	BEFREE	12022239, 12640257, 14620933, 15049387, 15188945, 15301563, 20966596		★☆☆☆☆ Found in Text Mining only
leiomyosarcoma	Leiomyosarcoma	BEFREE	28253719		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	7774681		★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	BEFREE	7774681		★☆☆☆☆ Found in Text Mining only
Malignant Hypertension	Malignant Hypertension	BEFREE	21557256		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	18310294, 19286759		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	18827978		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	14617787, 16369744, 18184167		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	22188725, 29048654, 9893668		★☆☆☆☆ Found in Text Mining only
Marfan Syndrome	Marfan Syndrome	BEFREE	21858106		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	19771429		★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	15949885		★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	18205097, 29434287, 31420755		★☆☆☆☆ Found in Text Mining only
MOHR-TRANEBJAERG SYNDROME	MOHR-TRANEBJAERG SYNDROME	BEFREE	18363708		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	10488956, 20537563, 24414230, 7934345, 9796075		★☆☆☆☆ Found in Text Mining only
Myocardial Ischemia	Myocardial Ischemia	BEFREE	15496309, 20537563, 23572029		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	10450835, 22188725, 30914029, 8582102, 9330590		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	23506891, 28828974		★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	28646121		★☆☆☆☆ Found in Text Mining only
Osteopenia	Osteopenia	BEFREE	31473996		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	28836869		★☆☆☆☆ Found in Text Mining only
Periodontitis	Periodontitis	BEFREE	31473996		★☆☆☆☆ Found in Text Mining only
Peritoneal Fibrosis	Peritoneal Fibrosis	BEFREE	15698454		★☆☆☆☆ Found in Text Mining only
Pervasive Development Disorder	Autism spectrum disorder	BEFREE	27242167		★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	BEFREE	19524223		★☆☆☆☆ Found in Text Mining only
Presenile dementia	Senile Dementia	BEFREE	28507470		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	14617787, 16369744, 18184167		★☆☆☆☆ Found in Text Mining only
Pseudoaphakia	Cataract	CTD_human_DG	22243965		★☆☆☆☆ Found in Text Mining only
Pseudohyperkalemia Cardiff	Pseudohyperkalemia Cardiff	BEFREE	19628656		★☆☆☆☆ Found in Text Mining only
Right ventricular failure	Ventricular Failure	BEFREE	29593122		★☆☆☆☆ Found in Text Mining only
Senile Plaques	Senile Plaques	BEFREE	29760662		★☆☆☆☆ Found in Text Mining only
Sensory neuropathy	Sensory neuropathy	BEFREE	23897027		★☆☆☆☆ Found in Text Mining only
Sleep Apnea, Obstructive	Sleep Apnea	BEFREE	16085213		★☆☆☆☆ Found in Text Mining only
Spastic Paraplegia	Spastic Paraplegia	BEFREE	23506891		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Spastic Paraplegia	Spastic Paraplegia	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Spastic paraplegia 10 autosomal dominant	Spastic paraplegia	Pubtator	19061983	Associate	★☆☆☆☆ Found in Text Mining only
Spastic paraplegia 10, autosomal dominant	Spondylometaphyseal dysplasia	BEFREE	19061983		★☆☆☆☆ Found in Text Mining only
Spastic Paraplegia 42 Autosomal Dominant	Spastic paraplegia	Pubtator	19061983	Associate	★☆☆☆☆ Found in Text Mining only
Spastic Paraplegia 42, Autosomal Dominant	Spastic Paraplegia	BEFREE	19061983		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spastic Paraplegia 42, Autosomal Dominant	Spastic Paraplegia	UNIPROT_DG	19061983, 25402622		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spastic Paraplegia 42, Autosomal Dominant	Spastic Paraplegia	ORPHANET_DG	19061983		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spastic Paraplegia 42, Autosomal Dominant	Spastic Paraplegia	GENOMICS_ENGLAND_DG	25402622, 29903433		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spastic Paraplegia 42, Autosomal Dominant	Spastic Paraplegia	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spastic Paraplegia 42, Autosomal Dominant	Spastic Paraplegia	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spastic Paraplegia Hereditary	Hereditary spastic paraplegia	Pubtator	19061983, 20461110	Associate	★☆☆☆☆ Found in Text Mining only
Spastic Paraplegia, Hereditary	Spastic paraplegia	BEFREE	27935820		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Systemic Scleroderma	Scleroderma	BEFREE	14730619		★☆☆☆☆ Found in Text Mining only
Trichohepatoenteric Syndrome	Trichohepatoenteric Syndrome	BEFREE	7699991		★☆☆☆☆ Found in Text Mining only
Ventricular arrhythmia	Ventricular arrhythmia	BEFREE	10615414		★☆☆☆☆ Found in Text Mining only
Vesicoureteral Reflux 1	Vesicoureteral Reflux	BEFREE	10233502, 12478352		★☆☆☆☆ Found in Text Mining only