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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	8292
Gene name	Collagen like tail subunit of asymmetric acetylcholinesterase
Gene symbol	COLQ
Synonyms (NCBI Gene)	CMS5EAD
Chromosome	3
Chromosome location	3p25.1
Summary	This gene encodes the subunit of a collagen-like molecule associated with acetylcholinesterase in skeletal muscle. Each molecule is composed of three identical subunits. Each subunit contains a proline-rich attachment domain (PRAD) that binds an acetylcho

Show/Hide all (33)

SNP ID	Visualize variation	Clinical significance	Consequence
rs104893733	C>A	Pathogenic	Stop gained, coding sequence variant
rs104893734	G>C	Pathogenic	Stop gained, coding sequence variant
rs104893735	C>A	Pathogenic	Stop gained, coding sequence variant
rs121908922	T>A,C	Pathogenic	Stop gained, missense variant, coding sequence variant
rs121908923	T>C,G	Pathogenic	Missense variant, coding sequence variant
rs121908924	G>A,T	Pathogenic	Stop gained, synonymous variant, coding sequence variant
rs139574075	G>A,T	Likely-pathogenic	Missense variant, synonymous variant, coding sequence variant
rs143766249	G>A,C	Conflicting-interpretations-of-pathogenicity	Stop gained, missense variant, coding sequence variant
rs149020371	C>G	Pathogenic	Splice donor variant
rs185829251	G>A,T	Likely-pathogenic	Coding sequence variant, synonymous variant, stop gained
rs199470447	C>T	Pathogenic	Splice acceptor variant, intron variant
rs201376373	A>G	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Genic upstream transcript variant, intron variant
rs375215281	T>A,C	Likely-pathogenic	Coding sequence variant, missense variant
rs747648795	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs755236236	T>C	Pathogenic	Splice acceptor variant
rs759911990	->G	Pathogenic	Frameshift variant, coding sequence variant
rs769982050	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs770045897	G>A,C	Pathogenic	Coding sequence variant, missense variant, stop gained
rs771879602	AGAG>-	Pathogenic	Coding sequence variant, frameshift variant, genic upstream transcript variant
rs777102590	->A	Pathogenic	Coding sequence variant, frameshift variant, genic upstream transcript variant
rs971863968	->G	Pathogenic	Coding sequence variant, frameshift variant
rs1057521153	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1064795839	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1085307792	C>T	Pathogenic	Splice donor variant
rs1269227357	C>T	Likely-pathogenic	Splice acceptor variant
rs1306593300	C>A,G	Likely-pathogenic	Missense variant, coding sequence variant
rs1369980189	C>T	Likely-pathogenic	Coding sequence variant, stop gained
rs1384843815	T>C	Pathogenic	Intron variant
rs1553634790	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs1559510978	->G	Pathogenic	Frameshift variant, coding sequence variant
rs1559519107	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1575460231	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1575482936	G>T	Likely-pathogenic	Stop gained, intron variant, coding sequence variant

Show/Hide all (83)

miRTarBase ID	miRNA	Experiments	Reference
MIRT017367	hsa-miR-335-5p	Microarray	18185580
MIRT903266	hsa-miR-1264	CLIP-seq
MIRT903267	hsa-miR-1273g	CLIP-seq
MIRT903268	hsa-miR-1285	CLIP-seq
MIRT903269	hsa-miR-1343	CLIP-seq
MIRT903270	hsa-miR-3074-5p	CLIP-seq
MIRT903271	hsa-miR-3187-5p	CLIP-seq
MIRT903272	hsa-miR-376a	CLIP-seq
MIRT903273	hsa-miR-376b	CLIP-seq
MIRT903274	hsa-miR-4691-3p	CLIP-seq
MIRT903275	hsa-miR-612	CLIP-seq
MIRT903276	hsa-miR-670	CLIP-seq
MIRT903277	hsa-miR-1207-3p	CLIP-seq
MIRT903266	hsa-miR-1264	CLIP-seq
MIRT903278	hsa-miR-128	CLIP-seq
MIRT903268	hsa-miR-1285	CLIP-seq
MIRT903269	hsa-miR-1343	CLIP-seq
MIRT903279	hsa-miR-1470	CLIP-seq
MIRT903280	hsa-miR-27a	CLIP-seq
MIRT903281	hsa-miR-27b	CLIP-seq
MIRT903270	hsa-miR-3074-5p	CLIP-seq
MIRT903282	hsa-miR-3165	CLIP-seq
MIRT903271	hsa-miR-3187-5p	CLIP-seq
MIRT903283	hsa-miR-3657	CLIP-seq
MIRT903284	hsa-miR-4267	CLIP-seq
MIRT903285	hsa-miR-4490	CLIP-seq
MIRT903286	hsa-miR-4640-5p	CLIP-seq
MIRT903287	hsa-miR-4667-3p	CLIP-seq
MIRT903288	hsa-miR-4726-5p	CLIP-seq
MIRT903289	hsa-miR-483-5p	CLIP-seq
MIRT903275	hsa-miR-612	CLIP-seq
MIRT903290	hsa-miR-766	CLIP-seq
MIRT903291	hsa-miR-1207-5p	CLIP-seq
MIRT903292	hsa-miR-1271	CLIP-seq
MIRT903293	hsa-miR-182	CLIP-seq
MIRT903294	hsa-miR-3121-5p	CLIP-seq
MIRT903295	hsa-miR-320a	CLIP-seq
MIRT903296	hsa-miR-320b	CLIP-seq
MIRT903297	hsa-miR-320c	CLIP-seq
MIRT903298	hsa-miR-320d	CLIP-seq
MIRT903299	hsa-miR-330-3p	CLIP-seq
MIRT903300	hsa-miR-4429	CLIP-seq
MIRT903301	hsa-miR-4677-3p	CLIP-seq
MIRT903302	hsa-miR-4736	CLIP-seq
MIRT903303	hsa-miR-4763-3p	CLIP-seq
MIRT903304	hsa-miR-657	CLIP-seq
MIRT903305	hsa-miR-96	CLIP-seq
MIRT2203688	hsa-miR-106a	CLIP-seq
MIRT2203689	hsa-miR-106b	CLIP-seq
MIRT903266	hsa-miR-1264	CLIP-seq
MIRT903278	hsa-miR-128	CLIP-seq
MIRT903268	hsa-miR-1285	CLIP-seq
MIRT903269	hsa-miR-1343	CLIP-seq
MIRT2203690	hsa-miR-17	CLIP-seq
MIRT2203691	hsa-miR-20a	CLIP-seq
MIRT2203692	hsa-miR-20b	CLIP-seq
MIRT903280	hsa-miR-27a	CLIP-seq
MIRT903281	hsa-miR-27b	CLIP-seq
MIRT903270	hsa-miR-3074-5p	CLIP-seq
MIRT903271	hsa-miR-3187-5p	CLIP-seq
MIRT2203693	hsa-miR-3672	CLIP-seq
MIRT903274	hsa-miR-4691-3p	CLIP-seq
MIRT2203694	hsa-miR-4797-3p	CLIP-seq
MIRT2203695	hsa-miR-5096	CLIP-seq
MIRT2203696	hsa-miR-513a-5p	CLIP-seq
MIRT2203697	hsa-miR-519a	CLIP-seq
MIRT2203698	hsa-miR-519b-3p	CLIP-seq
MIRT2203699	hsa-miR-519c-3p	CLIP-seq
MIRT2203700	hsa-miR-519d	CLIP-seq
MIRT2203701	hsa-miR-520g	CLIP-seq
MIRT2203702	hsa-miR-520h	CLIP-seq
MIRT903275	hsa-miR-612	CLIP-seq
MIRT2203703	hsa-miR-93	CLIP-seq
MIRT2386357	hsa-miR-1253	CLIP-seq
MIRT2386358	hsa-miR-4251	CLIP-seq
MIRT2386359	hsa-miR-4675	CLIP-seq
MIRT2386360	hsa-miR-4741	CLIP-seq
MIRT903266	hsa-miR-1264	CLIP-seq
MIRT903278	hsa-miR-128	CLIP-seq
MIRT903280	hsa-miR-27a	CLIP-seq
MIRT903281	hsa-miR-27b	CLIP-seq
MIRT2203695	hsa-miR-5096	CLIP-seq
MIRT2203696	hsa-miR-513a-5p	CLIP-seq

Show/Hide all (16)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001507	Process	Acetylcholine catabolic process in synaptic cleft	TAS	9689136
GO:0005201	Function	Extracellular matrix structural constituent	RCA	25037231
GO:0005515	Function	Protein binding	IPI	15526038, 32296183
GO:0005581	Component	Collagen trimer	IEA
GO:0005604	Component	Basement membrane	TAS	9689136
GO:0005615	Component	Extracellular space	TAS	9689136
GO:0005886	Component	Plasma membrane	IDA
GO:0008201	Function	Heparin binding	IBA
GO:0008582	Process	Regulation of synaptic assembly at neuromuscular junction	IEA
GO:0030054	Component	Cell junction	IDA
GO:0031012	Component	Extracellular matrix	HDA	25037231
GO:0031594	Component	Neuromuscular junction	IEA
GO:0043083	Component	Synaptic cleft	IEA
GO:0045202	Component	Synapse	IEA
GO:0071340	Process	Skeletal muscle acetylcholine-gated channel clustering	IEA
GO:0090150	Process	Establishment of protein localization to membrane	IEA

MIM	HGNC	e!Ensembl
603033	2226	ENSG00000206561

Q9Y215

Protein name

Acetylcholinesterase collagenic tail peptide (AChE Q subunit) (Acetylcholinesterase-associated collagen)

Protein function

Anchors the catalytic subunits of asymmetric AChE to the synaptic basal lamina.

PDB

1VZJ

Family and domains

Tissue specificity

TISSUE SPECIFICITY: Found at the end plate of skeletal muscle.

Sequence

MVVLNPMTLGIYLQLFFLSIVSQPTFINSVLPISAALPSLDQKKRGGHKACCLLTPPPPP
LFPPPFFRGGRSPLLSPDMKNLMLELETSQSPCMQGSLGSPGPPGPQGPPGLPGKTGPKG
EKGELGRPGRKGRPGPPGVPGMPGPIGWPGPEGPRGEKGDLGMMGLPGSRGPMGSKGYPG
SRGEKGSRGEKGDLGPKGEKGFPGFPGMLGQKGEMGPKGEPGIAGHRGPTGRPGKRGKQG
QKGDSGVMGPPGKPGPSGQPGRPGPPGPPPAGQLIMGPKGERGFPGPPGRCLCGPTMNVN
NPSYGESVYGPSSPRVPVIFVVNNQEELERLNTQNAIAFRRDQRSLYFKDSLGWLPIQLT
PFYPVDYTADQHGTCGDGLLQPGEECDDGNSDVGDDCIRCHRAYCGDGHRHEGVEDCDGS
DFGYLTCETYLPGSYGDLQCTQYCYIDSTPCRYFT

Sequence length

455

Interactions

View interactions

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 (7)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Abnormality of the musculature	Likely pathogenic; Pathogenic	rs2125081666, rs752967536, rs2125089059, rs1203598816, rs769982050, rs1575482936	RCV001814488 RCV001814402 RCV001814496 RCV001814417 RCV001813960 RCV001836883 View all (1 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cervical cancer	Pathogenic	rs149020371	RCV005912145	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
COLQ-related disorder	Pathogenic	rs121908923	RCV004757099	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Congenital myasthenic syndrome	Pathogenic; Likely pathogenic	rs2125089093, rs2062264317, rs758554049, rs769982050, rs121908923, rs1384843815, rs2470828749, rs770045897, rs1320483615, rs139574075, rs1085307792, rs149020371	RCV005235617 RCV003490914 RCV004801218 RCV000825560 RCV004526590 View all (8 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Congenital myasthenic syndrome 5	Likely pathogenic; Pathogenic	rs1002244829, rs2125085542, rs2125103406, rs759874172, rs2125123167, rs769276577, rs1172409117, rs1311078034, rs2125123160, rs2125089093, rs2125085333, rs2062264317, rs2125086401, rs758554049, rs2470923715 View all (68 more)	RCV001377372 RCV001382536 RCV001381912 RCV001383387 RCV001381910 View all (83 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Slow-Channel Congenital Myasthenia Syndrome	Pathogenic	rs121908923	RCV001813737	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Synaptic congenital myasthenic syndromes	Likely pathogenic; Pathogenic	rs758554049, rs121908924, rs770045897, rs2470829078, rs2470828887, rs185829251	RCV003321949 RCV003321480 RCV003321579 RCV003322577 RCV003322580 RCV003321703 View all (1 more)	★★★★★ ★★★★★ 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.
ALZHEIMER DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital Myasthenic Syndrome, Recessive	Uncertain significance; Conflicting classifications of pathogenicity; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIGESTIVE SYSTEM DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIVERTICULAR DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIVERTICULAR DISEASES	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIVERTICULITIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYASTHENIC SYNDROME, CONGENITAL, 5	—	HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYASTHENIC SYNDROMES, CONGENITAL	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYASTHENIC SYNDROMES, CONGENITAL, SLOW CHANNEL	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PANCREATIC CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (57)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Adenocarcinoma Of Esophagus	Esophageal Cancer	BEFREE	26369544, 29455652		★★★★★ ★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial fibrillation	Pubtator	34737791	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Byzanthine arch palate	High palate	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Class III malocclusion	Malocclusion	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital clubfoot	Congenital Clubfoot	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital disorder of glycosylation type 1C	Congenital disorder of glycosylation	Pubtator	9758617	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital myasthenic syndrome ib	Congenital myasthenic syndrome	Pubtator	33353066	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Deglutition Disorders	Dysphagia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	BEFREE	28779628		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dermatitis, Atopic	Dermatitis	BEFREE	18312459		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diverticular Bleeding	Diverticular Bleeding	CTD_human_DG	28585551		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diverticular Diseases	Diverticular Diseases	BEFREE	28585551		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diverticular Diseases	Diverticular Diseases	GWASCAT_DG	28585551, 30177863		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diverticular Diseases	Diverticular Diseases	CTD_human_DG	28585551		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diverticular Diseases	Diverticular disease	Pubtator	28585551	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diverticulitis	Diverticulitis	BEFREE	28585551		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diverticulitis	Diverticulitis	GWASCAT_DG	28585551		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diverticulitis	Diverticulitis	Pubtator	28585551	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dysarthria	Dysarthria	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Eczema	Eczema	BEFREE	18312459		★★★★★ ★☆☆☆☆ Found in Text Mining only
ENDPLATE ACETYLCHOLINESTERASE DEFICIENCY (disorder)	Endplate acetylcholinesterase deficiency	GENOMICS_ENGLAND_DG	10441569, 11865139, 9689136		★★★★★ ★☆☆☆☆ Found in Text Mining only
ENDPLATE ACETYLCHOLINESTERASE DEFICIENCY (disorder)	Endplate acetylcholinesterase deficiency	UNIPROT_DG	10665486, 11865139, 24938146, 9758617		★★★★★ ★☆☆☆☆ Found in Text Mining only
ENDPLATE ACETYLCHOLINESTERASE DEFICIENCY (disorder)	Endplate acetylcholinesterase deficiency	BEFREE	12609505, 17300939, 24723437, 29150079		★★★★★ ★☆☆☆☆ Found in Text Mining only
ENDPLATE ACETYLCHOLINESTERASE DEFICIENCY (disorder)	Endplate acetylcholinesterase deficiency	CLINVAR_DG	14702351, 15248101, 18180250, 21952943, 22088788, 22678886, 23108489, 25557462, 9758617		★★★★★ ★☆☆☆☆ Found in Text Mining only
ENDPLATE ACETYLCHOLINESTERASE DEFICIENCY (disorder)	Endplate acetylcholinesterase deficiency	CTD_human_DG	22981737		★★★★★ ★☆☆☆☆ Found in Text Mining only
Facial paralysis	Facial paralysis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Fibrosarcoma	Fibrosarcoma	BEFREE	28233863		★★★★★ ★☆☆☆☆ Found in Text Mining only
Gastric Adenocarcinoma	Gastric Cancer	BEFREE	26369544		★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	BEFREE	28744372		★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Idiopathic pulmonary arterial hypertension	Pulmonary arterial hypertension	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	37841281, 38146370	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	BEFREE	28744372		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myasthenias	Myasthenia Gravis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Myasthenic Syndromes Congenital	Myasthenic syndrome	Pubtator	20562457, 22088788, 25557462, 26282582, 28024842, 33353066, 33370874, 33756069, 34553317, 36308527, 37721175, 9758617	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Myasthenic Syndromes, Congenital	Myasthenic Syndrome	BEFREE	11865139, 15248101, 22088788, 22490774, 23089045, 24938146, 25166616, 26282582, 28024842, 28744372, 29054425, 29150079, 31773638, 31831253, 9758617		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myasthenic Syndromes, Congenital	Myasthenic Syndrome	CLINVAR_DG	22678886, 24281389, 9689136		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myasthenic Syndromes, Congenital	Myasthenic Syndrome	GENOMICS_ENGLAND_DG	9689136		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myopathy	Myopathy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	BEFREE	29494658		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	24723437, 28233863		★★★★★ ★☆☆☆☆ Found in Text Mining only
Presenile dementia	Senile Dementia	BEFREE	28779628		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pseudocholinesterase deficiency	Pseudocholinesterase Deficiency	BEFREE	29630557		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Pulmonary arterial hypertension	Pulmonary arterial hypertension	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Respiratory Distress Syndrome, Newborn	Congenital alveolar dysplasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Respiratory Failure	Respiratory Failure	BEFREE	28744372		★★★★★ ★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	30727744		★★★★★ ★☆☆☆☆ Found in Text Mining only
Right Ventricular Hypertrophy	Ventricular hypertrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Sleep Apnea Syndromes	Sleep Apnea	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	29455652		★★★★★ ★☆☆☆☆ Found in Text Mining only
Synaptic congenital myasthenic syndromes	Synaptic Congenital Myasthenic Syndromes	Orphanet			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
TOE SYNDACTYLY, TELECANTHUS, AND ANOGENITAL AND RENAL MALFORMATIONS	Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations	BEFREE	30325193		★★★★★ ★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	35958598	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

COLQ (collagen like tail subunit of asymmetric acetylcholinesterase)