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

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	10715
Gene name	Ceramide synthase 1
Gene symbol	CERS1
Synonyms (NCBI Gene)	EPM8GDF-1GDF1LAG1LASS1UOG1
Chromosome	19
Chromosome location	19p13.11
Summary	This gene encodes a ceramide synthase enzyme, which catalyzes the synthesis of ceramide, the hydrophobic moiety of sphingolipids. The encoded enzyme synthesizes 18-carbon (C18) ceramide in brain neurons. Elevated expression of this gene may be associated

166

Show/Hide all (166)

miRTarBase ID	miRNA	Experiments	Reference
MIRT049351	hsa-miR-92a-3p	CLASH	23622248
MIRT048708	hsa-miR-99a-5p	CLASH	23622248
MIRT037949	hsa-miR-505-5p	CLASH	23622248
MIRT453210	hsa-miR-6784-5p	HITS-CLIP	23706177
MIRT453209	hsa-miR-4508	HITS-CLIP	23706177
MIRT453208	hsa-miR-4632-3p	HITS-CLIP	23706177
MIRT453207	hsa-miR-6829-5p	HITS-CLIP	23706177
MIRT453206	hsa-miR-185-3p	HITS-CLIP	23706177
MIRT453210	hsa-miR-6784-5p	HITS-CLIP	23706177
MIRT453209	hsa-miR-4508	HITS-CLIP	23706177
MIRT453208	hsa-miR-4632-3p	HITS-CLIP	23706177
MIRT453207	hsa-miR-6829-5p	HITS-CLIP	23706177
MIRT453206	hsa-miR-185-3p	HITS-CLIP	23706177
MIRT573603	hsa-miR-939-3p	PAR-CLIP	20371350
MIRT573601	hsa-miR-6852-5p	PAR-CLIP	20371350
MIRT573602	hsa-miR-6742-3p	PAR-CLIP	20371350
MIRT573600	hsa-miR-1204	PAR-CLIP	20371350
MIRT573599	hsa-miR-637	PAR-CLIP	20371350
MIRT573597	hsa-miR-4743-5p	PAR-CLIP	20371350
MIRT573598	hsa-miR-4471	PAR-CLIP	20371350
MIRT573596	hsa-miR-8059	PAR-CLIP	20371350
MIRT573595	hsa-miR-1268a	PAR-CLIP	20371350
MIRT573593	hsa-miR-1268b	PAR-CLIP	20371350
MIRT573594	hsa-miR-1237-5p	PAR-CLIP	20371350
MIRT573592	hsa-miR-4488	PAR-CLIP	20371350
MIRT573591	hsa-miR-4697-5p	PAR-CLIP	20371350
MIRT573589	hsa-miR-6795-5p	PAR-CLIP	20371350
MIRT573590	hsa-miR-6887-5p	PAR-CLIP	20371350
MIRT573588	hsa-miR-328-5p	PAR-CLIP	20371350
MIRT573587	hsa-miR-6885-5p	PAR-CLIP	20371350
MIRT573586	hsa-miR-1343-3p	PAR-CLIP	20371350
MIRT573585	hsa-miR-6783-3p	PAR-CLIP	20371350
MIRT573583	hsa-miR-7109-5p	PAR-CLIP	20371350
MIRT453208	hsa-miR-4632-3p	PAR-CLIP	20371350
MIRT453207	hsa-miR-6829-5p	PAR-CLIP	20371350
MIRT453208	hsa-miR-4632-3p	PAR-CLIP	24398324
MIRT453207	hsa-miR-6829-5p	PAR-CLIP	24398324
MIRT453206	hsa-miR-185-3p	PAR-CLIP	24398324
MIRT486787	hsa-miR-196b-3p	PAR-CLIP	23592263
MIRT486785	hsa-miR-7112-5p	PAR-CLIP	23592263
MIRT486786	hsa-miR-2277-3p	PAR-CLIP	23592263
MIRT486784	hsa-miR-885-3p	PAR-CLIP	23592263
MIRT453220	hsa-miR-6895-5p	PAR-CLIP	23592263
MIRT453219	hsa-miR-4459	PAR-CLIP	23592263
MIRT453218	hsa-miR-3918	PAR-CLIP	23592263
MIRT453217	hsa-miR-665	PAR-CLIP	23592263
MIRT453216	hsa-miR-6134	PAR-CLIP	23592263
MIRT453214	hsa-miR-765	PAR-CLIP	23592263
MIRT453215	hsa-miR-3689d	PAR-CLIP	23592263
MIRT453213	hsa-miR-6851-5p	PAR-CLIP	23592263
MIRT453212	hsa-miR-4640-5p	PAR-CLIP	23592263
MIRT453211	hsa-miR-4726-5p	PAR-CLIP	23592263
MIRT453210	hsa-miR-6784-5p	PAR-CLIP	23592263
MIRT453209	hsa-miR-4508	PAR-CLIP	23592263
MIRT453208	hsa-miR-4632-3p	PAR-CLIP	23592263
MIRT453207	hsa-miR-6829-5p	PAR-CLIP	23592263
MIRT453206	hsa-miR-185-3p	PAR-CLIP	23592263
MIRT453210	hsa-miR-6784-5p	HITS-CLIP	23706177
MIRT453209	hsa-miR-4508	HITS-CLIP	23706177
MIRT453208	hsa-miR-4632-3p	HITS-CLIP	23706177
MIRT453207	hsa-miR-6829-5p	HITS-CLIP	23706177
MIRT453206	hsa-miR-185-3p	HITS-CLIP	23706177
MIRT453210	hsa-miR-6784-5p	HITS-CLIP	23706177
MIRT453209	hsa-miR-4508	HITS-CLIP	23706177
MIRT453208	hsa-miR-4632-3p	HITS-CLIP	23706177
MIRT453207	hsa-miR-6829-5p	HITS-CLIP	23706177
MIRT453206	hsa-miR-185-3p	HITS-CLIP	23706177
MIRT573603	hsa-miR-939-3p	PAR-CLIP	20371350
MIRT573601	hsa-miR-6852-5p	PAR-CLIP	20371350
MIRT573602	hsa-miR-6742-3p	PAR-CLIP	20371350
MIRT573600	hsa-miR-1204	PAR-CLIP	20371350
MIRT573599	hsa-miR-637	PAR-CLIP	20371350
MIRT573597	hsa-miR-4743-5p	PAR-CLIP	20371350
MIRT573598	hsa-miR-4471	PAR-CLIP	20371350
MIRT573596	hsa-miR-8059	PAR-CLIP	20371350
MIRT573595	hsa-miR-1268a	PAR-CLIP	20371350
MIRT573593	hsa-miR-1268b	PAR-CLIP	20371350
MIRT573594	hsa-miR-1237-5p	PAR-CLIP	20371350
MIRT573592	hsa-miR-4488	PAR-CLIP	20371350
MIRT573591	hsa-miR-4697-5p	PAR-CLIP	20371350
MIRT573589	hsa-miR-6795-5p	PAR-CLIP	20371350
MIRT573590	hsa-miR-6887-5p	PAR-CLIP	20371350
MIRT573588	hsa-miR-328-5p	PAR-CLIP	20371350
MIRT573587	hsa-miR-6885-5p	PAR-CLIP	20371350
MIRT573586	hsa-miR-1343-3p	PAR-CLIP	20371350
MIRT573585	hsa-miR-6783-3p	PAR-CLIP	20371350
MIRT573583	hsa-miR-7109-5p	PAR-CLIP	20371350
MIRT453208	hsa-miR-4632-3p	PAR-CLIP	20371350
MIRT453207	hsa-miR-6829-5p	PAR-CLIP	20371350
MIRT453208	hsa-miR-4632-3p	PAR-CLIP	24398324
MIRT453207	hsa-miR-6829-5p	PAR-CLIP	24398324
MIRT453206	hsa-miR-185-3p	PAR-CLIP	24398324
MIRT486787	hsa-miR-196b-3p	PAR-CLIP	23592263
MIRT486785	hsa-miR-7112-5p	PAR-CLIP	23592263
MIRT486786	hsa-miR-2277-3p	PAR-CLIP	23592263
MIRT486784	hsa-miR-885-3p	PAR-CLIP	23592263
MIRT453220	hsa-miR-6895-5p	PAR-CLIP	23592263
MIRT453219	hsa-miR-4459	PAR-CLIP	23592263
MIRT453218	hsa-miR-3918	PAR-CLIP	23592263
MIRT453217	hsa-miR-665	PAR-CLIP	23592263
MIRT453216	hsa-miR-6134	PAR-CLIP	23592263
MIRT453214	hsa-miR-765	PAR-CLIP	23592263
MIRT453215	hsa-miR-3689d	PAR-CLIP	23592263
MIRT453213	hsa-miR-6851-5p	PAR-CLIP	23592263
MIRT453212	hsa-miR-4640-5p	PAR-CLIP	23592263
MIRT453211	hsa-miR-4726-5p	PAR-CLIP	23592263
MIRT453210	hsa-miR-6784-5p	PAR-CLIP	23592263
MIRT453209	hsa-miR-4508	PAR-CLIP	23592263
MIRT453208	hsa-miR-4632-3p	PAR-CLIP	23592263
MIRT453207	hsa-miR-6829-5p	PAR-CLIP	23592263
MIRT453206	hsa-miR-185-3p	PAR-CLIP	23592263
MIRT886792	hsa-miR-1255a	CLIP-seq
MIRT886793	hsa-miR-1255b	CLIP-seq
MIRT886794	hsa-miR-1827	CLIP-seq
MIRT886795	hsa-miR-1908	CLIP-seq
MIRT886796	hsa-miR-1915	CLIP-seq
MIRT886797	hsa-miR-3180	CLIP-seq
MIRT886798	hsa-miR-3180-3p	CLIP-seq
MIRT886799	hsa-miR-3184	CLIP-seq
MIRT886800	hsa-miR-3196	CLIP-seq
MIRT886801	hsa-miR-423-5p	CLIP-seq
MIRT886802	hsa-miR-4726-3p	CLIP-seq
MIRT886803	hsa-miR-615-5p	CLIP-seq
MIRT886804	hsa-miR-663	CLIP-seq
MIRT886805	hsa-miR-940	CLIP-seq
MIRT886806	hsa-miR-103a	CLIP-seq
MIRT886807	hsa-miR-107	CLIP-seq
MIRT886808	hsa-miR-1208	CLIP-seq
MIRT886809	hsa-miR-1265	CLIP-seq
MIRT886810	hsa-miR-1275	CLIP-seq
MIRT886811	hsa-miR-1307	CLIP-seq
MIRT886812	hsa-miR-137	CLIP-seq
MIRT886813	hsa-miR-193a-3p	CLIP-seq
MIRT886814	hsa-miR-193b	CLIP-seq
MIRT886815	hsa-miR-205	CLIP-seq
MIRT886816	hsa-miR-2052	CLIP-seq
MIRT886817	hsa-miR-25	CLIP-seq
MIRT886818	hsa-miR-3127-5p	CLIP-seq
MIRT886819	hsa-miR-3198	CLIP-seq
MIRT886820	hsa-miR-32	CLIP-seq
MIRT886821	hsa-miR-363	CLIP-seq
MIRT886822	hsa-miR-367	CLIP-seq
MIRT886823	hsa-miR-4257	CLIP-seq
MIRT886824	hsa-miR-4309	CLIP-seq
MIRT886825	hsa-miR-4421	CLIP-seq
MIRT886826	hsa-miR-4638-5p	CLIP-seq
MIRT886827	hsa-miR-4665-5p	CLIP-seq
MIRT886828	hsa-miR-4701-5p	CLIP-seq
MIRT886829	hsa-miR-486-3p	CLIP-seq
MIRT886830	hsa-miR-588	CLIP-seq
MIRT886831	hsa-miR-593	CLIP-seq
MIRT886832	hsa-miR-892b	CLIP-seq
MIRT886833	hsa-miR-92a	CLIP-seq
MIRT886834	hsa-miR-92b	CLIP-seq
MIRT886799	hsa-miR-3184	CLIP-seq
MIRT886801	hsa-miR-423-5p	CLIP-seq
MIRT1963004	hsa-miR-4743	CLIP-seq
MIRT1963005	hsa-miR-939	CLIP-seq
MIRT886813	hsa-miR-193a-3p	CLIP-seq
MIRT886814	hsa-miR-193b	CLIP-seq
MIRT886815	hsa-miR-205	CLIP-seq
MIRT886818	hsa-miR-3127-5p	CLIP-seq
MIRT886825	hsa-miR-4421	CLIP-seq
MIRT886828	hsa-miR-4701-5p	CLIP-seq
MIRT886830	hsa-miR-588	CLIP-seq
MIRT886832	hsa-miR-892b	CLIP-seq

Show/Hide all (30)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005783	Component	Endoplasmic reticulum	IDA	17699106, 19800881, 24782409
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006665	Process	Sphingolipid metabolic process	IEA
GO:0007420	Process	Brain development	IEA
GO:0010614	Process	Negative regulation of cardiac muscle hypertrophy	IEA
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	TAS	12869556
GO:0016410	Function	N-acyltransferase activity	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0030148	Process	Sphingolipid biosynthetic process	IDA	12105227
GO:0030148	Process	Sphingolipid biosynthetic process	TAS
GO:0036146	Process	Cellular response to mycotoxin	IDA	12105227
GO:0043231	Component	Intracellular membrane-bounded organelle	IEA
GO:0046325	Process	Negative regulation of D-glucose import	IEA
GO:0046513	Process	Ceramide biosynthetic process	IBA
GO:0046513	Process	Ceramide biosynthetic process	IDA	12105227, 12869556, 15823095, 17548428, 18541923, 22922758, 24782409
GO:0046513	Process	Ceramide biosynthetic process	IEA
GO:0046513	Process	Ceramide biosynthetic process	ISS
GO:0050291	Function	Sphingosine N-acyltransferase activity	IBA
GO:0050291	Function	Sphingosine N-acyltransferase activity	IDA	24782409
GO:0050291	Function	Sphingosine N-acyltransferase activity	IEA
GO:0050291	Function	Sphingosine N-acyltransferase activity	ISS
GO:0050291	Function	Sphingosine N-acyltransferase activity	TAS
GO:0071466	Process	Cellular response to xenobiotic stimulus	IDA	19800881
GO:0071492	Process	Cellular response to UV-A	IDA	19800881
GO:0072721	Process	Cellular response to dithiothreitol	IDA	19800881
GO:1901526	Process	Positive regulation of mitophagy	IDA	22922758

MIM	HGNC	e!Ensembl
606919	14253	ENSG00000223802

P27544

Protein name

Ceramide synthase 1 (CerS1) (LAG1 longevity assurance homolog 1) (Longevity assurance gene 1 protein homolog 1) (Protein UOG-1) (Sphingoid base N-stearoyltransferase CERS1) (EC 2.3.1.299)

Protein function

Ceramide synthase that catalyzes the transfer of the acyl chain from acyl-CoA to a sphingoid base, with high selectivity toward stearoyl-CoA (octadecanoyl-CoA; C18:0-CoA) (PubMed:17977534, PubMed:23530041, PubMed:26887952, PubMed:31916624). N-ac

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF03798	TRAM_LAG1_CLN8	98 → 304	TLC domain	Domain

Sequence

MAAAGPAAGPTGPEPMPSYAQLVQRGWGSALAAARGCTDCGWGLARRGLAEHAHLAPPEL
LLLALGALGWTALRSAATARLFRPLAKRCCLQPRDAAKMPESAWKFLFYLGSWSYSAYLL
FGTDYPFFHDPPSVFYDWTPGMAVPRDIAAAYLLQGSFYGHSIYATLYMDTWRKDSVVML
LHHVVTLILIVSSYAFRYHNVGILVLFLHDISDVQLEFTKLNIYFKSRGGSYHRLHALAA
DLGCLSFGFSWFWFRLYWFPLKVLYATSHCSLRTVPDIPFYFFFNALLLLLTLMNLYWFL
YIVAFAAKVLTGQVHELKDLREYDTAEAQSLKPSKAEKPLRNGLVKDKRF

Sequence length

350

Interactions

View interactions

	KEGG		Reactome
	Sphingolipid metabolism Metabolic pathways Sphingolipid signaling pathway		Sphingolipid de novo biosynthesis

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Congenital heart defects, multiple types, 6	Likely pathogenic	rs2145985085	RCV001733713	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Progressive myoclonic epilepsy type 8	Pathogenic	rs200024180	RCV000161146	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (10)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
CERS1-related disorder	Likely benign; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL HEART DEFECTS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DOUBLE OUTLET RIGHT VENTRICLE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPSY, PROGRESSIVE MYOCLONIC, 8	—	HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HETEROTAXY SYNDROME	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROGRESSIVE MYOCLONUS EPILEPSY	—	ClinGen, GenCC	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RIGHT ATRIAL ISOMERISM	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SITUS AMBIGUUS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TETRALOGY OF FALLOT	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TRANSPOSITION OF GREAT VESSELS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (163)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Action Myoclonus-Renal Failure Syndrome	Action Myoclonus-Renal Failure Syndrome	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	BEFREE	16817948		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenoma of large intestine	Colorectal adenoma	BEFREE	16817948		★★★★★ ★☆☆☆☆ Found in Text Mining only
Agenesis of corpus callosum	Agenesis Of Corpus Callosum	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Anaplastic thyroid carcinoma	Anaplastic thyroid cancer	BEFREE	28318881		★★★★★ ★☆☆☆☆ Found in Text Mining only
Aortic coarctation	Aortic Coarctation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Asplenia Syndrome	Asplenia	ORPHANET_DG	20413652		★★★★★ ★☆☆☆☆ Found in Text Mining only
Asplenia Syndrome	Asplenia	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Asplenia Syndrome	Asplenia	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Atrial Septal Defects	Atrial Septal Defect	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Atrioventricular Septal Defect	Atrioventricular septal defect	BEFREE	26656983		★★★★★ ★☆☆☆☆ Found in Text Mining only
Atrioventricular Septal Defect	Atrioventricular septal defect	Pubtator	26656983	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Atrioventricular Septal Defect	Atrioventricular septal defect	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Atypical Inclusion-Body Disease	Inclusion-Body Disease	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	Pubtator	28991257	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune disease	Pubtator	38175205	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Brachydactyly	Brachydactyly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	12771034, 18289367, 18588689		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	18289367, 18588689	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	16817948		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	25724183, 34880251	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	16054657, 16690207, 18289367		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma, Basal Cell	Carcinoma	BEFREE	12117772, 12433725, 15885892		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral Aneurysm	Cerebral Aneurysm	BEFREE	15157303		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Cerebral Infarction	BEFREE	29057481		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	28603911, 7680734		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ciliopathies	Ciliopathies	GENOMICS_ENGLAND_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Clinodactyly of the 5th finger	Camptodactyly of fingers	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	16817948, 18289367		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	16817948, 27111221	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	16914027	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	38175205	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Common ventricle	Complete Atrioventricular Canal Defect	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital absence of spleen	Asplenia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital atresia of pulmonary artery	Congenital Atresia Of Pulmonary Artery	BEFREE	20807224		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital atresia of pulmonary artery	Congenital Atresia Of Pulmonary Artery	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital atresia of pulmonary valve	Congenital Atresia Of Pulmonary Valve	BEFREE	20807224		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Heart Defects	Congenital heart defects	BEFREE	17924340, 26656983, 9415694		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital Heart Defects	Congenital heart defects	CTD_human_DG	28991257		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital Heart Defects	Congenital heart defects	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 6	Congenital heart defects	UNIPROT_DG	17924340, 28991257		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 6	Congenital heart defects	GENOMICS_ENGLAND_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 6	Congenital heart defects	CLINVAR_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 6	Congenital heart defects	CTD_human_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Congenital heart disease	Congenital Heart Disease	BEFREE	23076529, 31171573		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	31692231		★★★★★ ★☆☆☆☆ Found in Text Mining only
Conotruncal defect	Conotruncal defect	BEFREE	23076529		★★★★★ ★☆☆☆☆ Found in Text Mining only
CONOTRUNCAL HEART MALFORMATIONS (disorder)	Conotruncal heart defect	GENOMICS_ENGLAND_DG	16564040, 28991257		★★★★★ ★☆☆☆☆ Found in Text Mining only
CONOTRUNCAL HEART MALFORMATIONS (disorder)	Conotruncal heart defect	UNIPROT_DG	17924340		★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	Pubtator	37298446	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	23076529, 26656983, 28991257, 31171573		★★★★★ ★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	BEFREE	22535372		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	BEFREE	24782409		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dentatorubral-Pallidoluysian Atrophy	Dentatorubral Pallidoluysian Atrophy	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	29975575		★★★★★ ★☆☆☆☆ Found in Text Mining only
Differentiated Thyroid Gland Carcinoma	Thyroid Carcinoma	BEFREE	28318881, 28510122, 28816536, 29144811, 29954369, 30015659, 30260898, 30584304, 30657361, 31626129		★★★★★ ★☆☆☆☆ Found in Text Mining only
Double Outlet Right Ventricle	Double Outlet Right Ventricle	CTD_human_DG	17924340		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Double Outlet Right Ventricle	Double Outlet Right Ventricle	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Double Outlet Right Ventricle	Double Outlet Right Ventricle	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Double Outlet Right Ventricle, Noncommitted VSD	Double Outlet Right Ventricle	CTD_human_DG	17924340		★★★★★ ★☆☆☆☆ Found in Text Mining only
Double Outlet Right Ventricle, Subaortic VSD	Double Outlet Right Ventricle	CTD_human_DG	17924340		★★★★★ ★☆☆☆☆ Found in Text Mining only
Double Outlet Right Ventricle, Subpulmonary VSD	Double Outlet Right Ventricle	CTD_human_DG	17924340		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dyssomnias	Dyssomnia	BEFREE	31733460		★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	Pubtator	35992117	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
EPILEPSY, PROGRESSIVE MYOCLONIC, 8	Myoclonic Epilepsy	GENOMICS_ENGLAND_DG	19243074		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPSY, PROGRESSIVE MYOCLONIC, 8	Myoclonic Epilepsy	ORPHANET_DG	24782409		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPSY, PROGRESSIVE MYOCLONIC, 8	Myoclonic Epilepsy	UNIPROT_DG	24782409		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPSY, PROGRESSIVE MYOCLONIC, 8	Myoclonic Epilepsy	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epileptic Encephalopathy Early Infantile 3	Developmental and epileptic encephalopathy	Pubtator	33798445	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Exophthalmos	Proptosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Familial Progressive Myoclonic Epilepsy	Myoclonic Epilepsy	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty Liver	BEFREE	29626628		★★★★★ ★☆☆☆☆ Found in Text Mining only
Foramen Ovale, Patent	Patent foramen ovale	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	29262618		★★★★★ ★☆☆☆☆ Found in Text Mining only
Graves Disease	Graves Disease	BEFREE	31452116		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hairy Cell Leukemia	Hairy Cell Leukemia	BEFREE	7680734		★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart Defects Congenital	Congenital heart defect	Pubtator	26656983, 28991257, 34328347	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Heterotaxy Syndrome	Heterotaxia	CLINVAR_DG	20413652, 26633542, 28991257		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Heterotaxy Syndrome	Heterotaxia	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Huntington Disease	Huntington Disease	BEFREE	29311779		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperthyroidism	Hyperthyroidism	BEFREE	28585680, 4632689		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoglycemia	Hypoglycemia	BEFREE	29975575, 31094068		★★★★★ ★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	28407806		★★★★★ ★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	22535372		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Klippel-Feil Syndrome	Klippel Feil syndrome	BEFREE	22522086		★★★★★ ★☆☆☆☆ Found in Text Mining only
Left Atrial Isomerism	Left atrial isomerism	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	36518627	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Long narrow head	Dolichocephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	18289367	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	12771034, 18289367, 18588689		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	16054657, 16690207, 18289367		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	26212015		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of testis	Malignant Neoplasm Of Testis	BEFREE	15885892		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of thyroid	Thyroid cancer	BEFREE	20171085, 28008561, 28318881, 28585680		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	18588689, 19148536, 22180294, 27849386		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Testicular Germ Cell Tumor	Malignant testicular germ cell tumor	BEFREE	15885892		★★★★★ ★☆☆☆☆ Found in Text Mining only
May-White Syndrome	May-White Syndrome	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Medullary carcinoma of thyroid	Megalencephaly, Polymicrogyria, Polydactyly, Hydrocephalus Syndrome	BEFREE	27207700, 28318881, 30383218		★★★★★ ★☆☆☆☆ Found in Text Mining only
Miscarriage	Miscarriage	BEFREE	29302874		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	29229477	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	21046104		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	25726944		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myocardial Ischemia	Myocardial Ischemia	BEFREE	31731158		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myoclonic Epilepsies, Progressive	Myoclonic epilepsy	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Myoclonic Epilepsy	Myoclonic Epilepsy	BEFREE	27162368		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	22180294, 22790962, 28428267, 29978374, 30654714		★★★★★ ★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	28367114		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	24782409, 27618929, 29057481		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ostium secundum atrial septal defect	Secundum atrial septal defect	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Papillary thyroid carcinoma	Papillary thyroid carcinoma	BEFREE	26285789, 28534687, 30302058, 30396219		★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	28364501		★★★★★ ★☆☆☆☆ Found in Text Mining only
PNEUMOTHORAX, PRIMARY SPONTANEOUS	Pneumothorax	BEFREE	29685359		★★★★★ ★☆☆☆☆ Found in Text Mining only
Polysplenia	Polysplenia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Polysplenia Syndrome	Polysplenia	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Presenile dementia	Senile Dementia	BEFREE	24782409		★★★★★ ★☆☆☆☆ Found in Text Mining only
Progressive myoclonic epilepsy type 8	Progressive Myoclonic Epilepsy	Orphanet			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Pulmonary Stenosis	Pulmonary Stenosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Right aortic arch (disorder)	Right aortic arch	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Right Atrial Isomerism	Atrial Isomerism	BEFREE	20413652, 29057481		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Right Atrial Isomerism	Atrial Isomerism	GENOMICS_ENGLAND_DG	28991257		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Right Atrial Isomerism	Atrial Isomerism	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Right Atrial Isomerism	Atrial Isomerism	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Right sided atrial isomerism	Right Sided Atrial Isomerism	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Single Ventricle Defect	Single Ventricle Defect	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Situs ambiguus	Situs ambiguus	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Situs Inversus	Situs Inversus	BEFREE	22522086		★★★★★ ★☆☆☆☆ Found in Text Mining only
Situs inversus totalis	Situs Inversus	BEFREE	22522086		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sleep Disorders	Sleep Disorders	BEFREE	31733460		★★★★★ ★☆☆☆☆ Found in Text Mining only
Smith-Magenis syndrome	Smith-Magenis Syndrome	BEFREE	27683195		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	17619081, 22753704	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	19723703	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	17308067		★★★★★ ★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	BEFREE	29626628		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	26212015		★★★★★ ★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	BEFREE	30075294		★★★★★ ★☆☆☆☆ Found in Text Mining only
SVEINSSON CHORIORETINAL ATROPHY	Sveinsson Chorioretinal Atrophy	BEFREE	30654714		★★★★★ ★☆☆☆☆ Found in Text Mining only
Taussig-Bing Anomaly	Taussig-Bing Anomaly	CTD_human_DG	17924340		★★★★★ ★☆☆☆☆ Found in Text Mining only
Testicular Neoplasms	Testicular neoplasm	Pubtator	34880251	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Tetralogy of Fallot	Tetralogy of Fallot	BEFREE	17924340		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Tetralogy of Fallot	Tetralogy of Fallot	UNIPROT_DG	17924340		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Tetralogy of Fallot	Tetralogy of Fallot	CTD_human_DG	17924340		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Tetralogy of Fallot	Tetralogy of Fallot	GENOMICS_ENGLAND_DG	28991257		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Tetralogy of Fallot	Tetralogy of fallot	Pubtator	34328347	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Tetralogy of Fallot	Tetralogy of Fallot	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Tetralogy of Fallot	Tetralogy of Fallot	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Tetralogy of Fallot	Tetralogy of Fallot	ORPHANET_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Tetralogy of Fallot	Tetralogy of Fallot	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid associated opthalmopathies	Thyroid eye disease	BEFREE	30075294		★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid carcinoma	Thyroid Carcinoma	BEFREE	20171085, 28008561, 28318881, 28585680, 30668525		★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	BEFREE	20171085, 27207700, 28008561, 28585680		★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid Nodule	Thyroid Nodule	BEFREE	28817605		★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyrotoxicosis	Thyrotoxicosis	BEFREE	28585680		★★★★★ ★☆☆☆☆ Found in Text Mining only
Tonic - clonic seizures	Seizure	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Total anomalous pulmonary venous return	Pulmonary Venous Return Anomaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Transposition of Great Vessels	Transposition Of Great Vessels	BEFREE	17924340		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Transposition of Great Vessels	Transposition Of Great Vessels	CTD_human_DG	17924340		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Transposition of Great Vessels	Transposition Of Great Vessels	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Transposition of Great Vessels	Transposition Of Great Vessels	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Truncus Arteriosus, Persistent	Persistent truncus arteriosus	BEFREE	20807224		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ventricular Septal Defects	Ventricular septal defect	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only

CERS1 (ceramide synthase 1)