CHRNE (cholinergic receptor nicotinic epsilon subunit)

Gene

• Entrez ID: 1145
• Gene name: Cholinergic receptor nicotinic epsilon subunit
• Gene symbol: CHRNE
• Synonyms (NCBI Gene): ACHRE, CMS1A1, CMS1D, CMS1E, CMS2A, CMS4A, CMS4B, CMS4C, FCCMS, FIM1, FIMG, FIMG1, MGI, SCCMS
• Chromosome: 17
• Chromosome location: 17p13.2
• Summary: Acetylcholine receptors at mature mammalian neuromuscular junctions are pentameric protein complexes composed of four subunits in the ratio of two alpha subunits to one beta, one epsilon, and one delta subunit. The acetylcholine receptor changes subunit c

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT714672	hsa-miR-4687-5p	HITS-CLIP	19536157
MIRT714671	hsa-miR-4639-3p	HITS-CLIP	19536157
MIRT714670	hsa-miR-4270	HITS-CLIP	19536157
MIRT714669	hsa-miR-4441	HITS-CLIP	19536157
MIRT714668	hsa-miR-6754-5p	HITS-CLIP	19536157
MIRT714667	hsa-miR-1233-3p	HITS-CLIP	19536157
MIRT714666	hsa-miR-6827-5p	HITS-CLIP	19536157
MIRT714665	hsa-miR-6794-3p	HITS-CLIP	19536157
MIRT714664	hsa-miR-4732-5p	HITS-CLIP	19536157
MIRT714672	hsa-miR-4687-5p	HITS-CLIP	19536157
MIRT714671	hsa-miR-4639-3p	HITS-CLIP	19536157
MIRT714670	hsa-miR-4270	HITS-CLIP	19536157
MIRT714669	hsa-miR-4441	HITS-CLIP	19536157
MIRT714668	hsa-miR-6754-5p	HITS-CLIP	19536157
MIRT714667	hsa-miR-1233-3p	HITS-CLIP	19536157
MIRT714666	hsa-miR-6827-5p	HITS-CLIP	19536157
MIRT714665	hsa-miR-6794-3p	HITS-CLIP	19536157
MIRT714664	hsa-miR-4732-5p	HITS-CLIP	19536157
MIRT892104	hsa-miR-1299	CLIP-seq
MIRT892105	hsa-miR-19a	CLIP-seq
MIRT892106	hsa-miR-19b	CLIP-seq
MIRT892107	hsa-miR-2110	CLIP-seq
MIRT892108	hsa-miR-3074-5p	CLIP-seq
MIRT892109	hsa-miR-3160-5p	CLIP-seq
MIRT892110	hsa-miR-3185	CLIP-seq
MIRT892111	hsa-miR-339-5p	CLIP-seq
MIRT892112	hsa-miR-3622a-3p	CLIP-seq
MIRT892113	hsa-miR-3622b-3p	CLIP-seq
MIRT892114	hsa-miR-4271	CLIP-seq
MIRT892115	hsa-miR-4324	CLIP-seq
MIRT892116	hsa-miR-4463	CLIP-seq
MIRT892117	hsa-miR-4685-5p	CLIP-seq
MIRT892118	hsa-miR-4688	CLIP-seq
MIRT892119	hsa-miR-4725-3p	CLIP-seq
MIRT892120	hsa-miR-4782-5p	CLIP-seq
MIRT892121	hsa-miR-486-3p	CLIP-seq
MIRT892122	hsa-miR-491-5p	CLIP-seq
MIRT892123	hsa-miR-516b	CLIP-seq
MIRT892124	hsa-miR-548v	CLIP-seq
MIRT892125	hsa-miR-7	CLIP-seq
MIRT892126	hsa-miR-875-3p	CLIP-seq
MIRT892104	hsa-miR-1299	CLIP-seq
MIRT892109	hsa-miR-3160-5p	CLIP-seq
MIRT892112	hsa-miR-3622a-3p	CLIP-seq
MIRT892113	hsa-miR-3622b-3p	CLIP-seq
MIRT892115	hsa-miR-4324	CLIP-seq
MIRT892116	hsa-miR-4463	CLIP-seq
MIRT892120	hsa-miR-4782-5p	CLIP-seq
MIRT892123	hsa-miR-516b	CLIP-seq
MIRT892125	hsa-miR-7	CLIP-seq
MIRT892126	hsa-miR-875-3p	CLIP-seq
MIRT892104	hsa-miR-1299	CLIP-seq
MIRT892109	hsa-miR-3160-5p	CLIP-seq
MIRT892112	hsa-miR-3622a-3p	CLIP-seq
MIRT892113	hsa-miR-3622b-3p	CLIP-seq
MIRT892115	hsa-miR-4324	CLIP-seq
MIRT892116	hsa-miR-4463	CLIP-seq
MIRT892120	hsa-miR-4782-5p	CLIP-seq
MIRT892123	hsa-miR-516b	CLIP-seq
MIRT892125	hsa-miR-7	CLIP-seq
MIRT892126	hsa-miR-875-3p	CLIP-seq
MIRT892104	hsa-miR-1299	CLIP-seq
MIRT1964376	hsa-miR-1470	CLIP-seq
MIRT892109	hsa-miR-3160-5p	CLIP-seq
MIRT892112	hsa-miR-3622a-3p	CLIP-seq
MIRT892113	hsa-miR-3622b-3p	CLIP-seq
MIRT1964377	hsa-miR-4287	CLIP-seq
MIRT892115	hsa-miR-4324	CLIP-seq
MIRT892116	hsa-miR-4463	CLIP-seq
MIRT1964378	hsa-miR-4469	CLIP-seq
MIRT1964379	hsa-miR-4667-3p	CLIP-seq
MIRT1964380	hsa-miR-4685-3p	CLIP-seq
MIRT1964381	hsa-miR-4713-5p	CLIP-seq
MIRT892120	hsa-miR-4782-5p	CLIP-seq
MIRT892123	hsa-miR-516b	CLIP-seq
MIRT892125	hsa-miR-7	CLIP-seq
MIRT892126	hsa-miR-875-3p	CLIP-seq
MIRT892104	hsa-miR-1299	CLIP-seq
MIRT2200525	hsa-miR-3127-3p	CLIP-seq
MIRT892109	hsa-miR-3160-5p	CLIP-seq
MIRT2200526	hsa-miR-338-3p	CLIP-seq
MIRT892116	hsa-miR-4463	CLIP-seq
MIRT2200527	hsa-miR-4530	CLIP-seq
MIRT892120	hsa-miR-4782-5p	CLIP-seq
MIRT892123	hsa-miR-516b	CLIP-seq
MIRT892125	hsa-miR-7	CLIP-seq
MIRT2200528	hsa-miR-766	CLIP-seq
MIRT892126	hsa-miR-875-3p	CLIP-seq
MIRT2200529	hsa-miR-922	CLIP-seq
MIRT892104	hsa-miR-1299	CLIP-seq
MIRT892109	hsa-miR-3160-5p	CLIP-seq
MIRT892112	hsa-miR-3622a-3p	CLIP-seq
MIRT892113	hsa-miR-3622b-3p	CLIP-seq
MIRT892115	hsa-miR-4324	CLIP-seq
MIRT892116	hsa-miR-4463	CLIP-seq
MIRT892120	hsa-miR-4782-5p	CLIP-seq
MIRT892123	hsa-miR-516b	CLIP-seq
MIRT892125	hsa-miR-7	CLIP-seq
MIRT892126	hsa-miR-875-3p	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
ETS2	Activation	9677435

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003009	Process	Skeletal muscle contraction	IBA
GO:0004888	Function	Transmembrane signaling receptor activity	IEA
GO:0005216	Function	Monoatomic ion channel activity	IEA
GO:0005230	Function	Extracellular ligand-gated monoatomic ion channel activity	IEA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS	8872460
GO:0005892	Component	Acetylcholine-gated channel complex	IBA
GO:0005892	Component	Acetylcholine-gated channel complex	TAS	7531341
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006936	Process	Muscle contraction	IEA
GO:0006936	Process	Muscle contraction	TAS	8872460
GO:0007165	Process	Signal transduction	TAS	8872460
GO:0007268	Process	Chemical synaptic transmission	IBA
GO:0007271	Process	Synaptic transmission, cholinergic	TAS	8872460
GO:0008324	Function	Monoatomic cation transmembrane transporter activity	TAS	8872460
GO:0015464	Function	Acetylcholine receptor activity	IBA
GO:0015464	Function	Acetylcholine receptor activity	TAS	8872460
GO:0016020	Component	Membrane	IEA
GO:0022848	Function	Acetylcholine-gated monoatomic cation-selective channel activity	IBA
GO:0022848	Function	Acetylcholine-gated monoatomic cation-selective channel activity	IEA
GO:0022848	Function	Acetylcholine-gated monoatomic cation-selective channel activity	TAS	7531341
GO:0031594	Component	Neuromuscular junction	IDA	7531341
GO:0031594	Component	Neuromuscular junction	IMP	7531341
GO:0034220	Process	Monoatomic ion transmembrane transport	IBA
GO:0034220	Process	Monoatomic ion transmembrane transport	IEA
GO:0042391	Process	Regulation of membrane potential	IEA
GO:0043005	Component	Neuron projection	IBA
GO:0045202	Component	Synapse	IBA
GO:0045202	Component	Synapse	IEA
GO:0045211	Component	Postsynaptic membrane	IEA
GO:0051899	Process	Membrane depolarization	IBA
GO:0060078	Process	Regulation of postsynaptic membrane potential	IEA
GO:0060079	Process	Excitatory postsynaptic potential	IEA
GO:0095500	Process	Acetylcholine receptor signaling pathway	IBA
GO:0098655	Process	Monoatomic cation transmembrane transport	IEA
GO:1904315	Function	Transmitter-gated monoatomic ion channel activity involved in regulation of postsynaptic membrane potential	IDA	7531341
GO:1904315	Function	Transmitter-gated monoatomic ion channel activity involved in regulation of postsynaptic membrane potential	IMP	7531341
GO:1904315	Function	Transmitter-gated monoatomic ion channel activity involved in regulation of postsynaptic membrane potential	ISS

Other IDs

• MIM: 100725
• HGNC: 1966
• e!Ensembl: ENSG00000108556

Protein

• UniProt ID: Q04844
• Protein name: Acetylcholine receptor subunit epsilon
• Protein function: After binding acetylcholine, the AChR responds by an extensive change in conformation that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF02931	Neur_chan_LBD	24 → 240	Neurotransmitter-gated ion-channel ligand binding domain	Family
  PF02932	Neur_chan_memb	247 → 474	Neurotransmitter-gated ion-channel transmembrane region	Family

• Sequence:

  MARAPLGVLLLLGLLGRGVGKNEELRLYHHLFNNYDPGSRPVREPEDTVTISLKVTLTNL
  ISLNEKEETLTTSVWIGIDWQDYRLNYSKDDFGGIETLRVPSELVWLPEIVLENNIDGQF
  GVAYDANVLVYEGGSVTWLPPAIYRSVCAVEVTYFPFDWQNCSLIFRSQTYNAEEVEFTF
  AVDNDGKTINKIDIDTEAYTENGEWAIDFCPGVIRRHHGGATDGPGETDVIYSLIIRRKP
  LFYVINIIVPCVLISGLVLLAYFLPAQAGGQKCTVSINVLLAQTVFLFLIAQKIPETSLS
  VPLLGRFLIFVMVVATLIVMNCVIVLNVSQRTPTTHAMSPRLRHVLLELLPRLLGSPPPP
  EAPRAASPPRRASSVGLLLRAEELILKKPRSELVFEGQRHRQGTWTAAFCQSLGAAAPEV
  RCCVDAVNFVAESTRDQEATGEEVSDWVRMGNALDNICFWAALVLFSVGSSLIFLGAYFN
  RVPDLPYAPCIQP

• Sequence length: 493

Pathways

KEGG:

Neuroactive ligand-receptor interaction

Reactome:

Highly sodium permeable postsynaptic acetylcholine nicotinic receptors

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
Abnormality of the musculature	Likely pathogenic; Pathogenic	rs2151096983, rs2151098864, rs762368691, rs776927709, rs1156634884, rs760022829, rs1597621396	RCV001814475 RCV001814424 RCV001814127 RCV001814166 RCV001814170 RCV001814235 RCV001836912	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
CHRNE-related disorder	Likely pathogenic; Pathogenic	rs758687208, rs918839874, rs121909512, rs121909516, rs1156634884, rs1430654625, rs932032926	RCV003234062 RCV004552076 RCV005256552 RCV004737161 RCV004551626 RCV005869642 RCV004547811	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Congenital myasthenic syndrome	Likely pathogenic; Pathogenic	rs758687208, rs748103983, rs1250853600, rs773553639, rs773526895, rs762368691, rs1398583523, rs2507543360, rs879255562, rs28999110, rs753828284, rs121909515, rs121909517, rs370019023, rs755303686, rs776927709, rs1156634884, rs1555546465, rs1555546765, rs932032926, rs1309292778, rs781774131, rs760022829, rs977512223, rs1597621396, rs1969834618, rs1320610655, rs373710822, rs1969955431	RCV001831401 RCV001831403 RCV005608862 RCV005608934 RCV000235035 RCV000235039 RCV003230824 RCV003494425 RCV001271737 RCV004700254 RCV001271739 RCV004526598 RCV005632184 RCV000779222 RCV005632419 RCV000779224 RCV000503802 RCV005632448 RCV005606673 RCV003447547 RCV000778503 RCV001271735 RCV001835960 RCV005633709 RCV001825706 RCV004526070 RCV001828522 RCV001836104 RCV001833646 RCV001280689	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Congenital myasthenic syndrome 4	Likely pathogenic; Pathogenic	rs771486772	RCV005098886	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Congenital myasthenic syndrome 4A	Pathogenic; Likely pathogenic	rs2151094398, rs1222065184, rs2151094540, rs2151094632, rs1969858094, rs1268475945, rs2151097082, rs2151097420, rs2151097742, rs758687208, rs2151098295, rs748103983, rs748694848, rs768869197, rs1278514080, rs2151094729, rs2151097188, rs2151098928, rs773929089, rs1458613529, rs2151098412, rs2151098905, rs918839874, rs1969880683, rs894382905, rs1597613279, rs760623071, rs2151095155, rs2151093952, rs746199600, rs1567638676, rs2151094378, rs2151098538, rs56377005, rs1567636622, rs754975887, rs1597618794, rs1250853600, rs786204773, rs2507543742, rs1597620368, rs1567639631, rs771486772, rs1970029155, rs1567635867, rs2507561395, rs2507557604, rs2507539355, rs2507562728, rs2507560177, rs2507565283, rs2507560440, rs2507554331, rs2507544005, rs2509299907, rs1597621216, rs1309292778, rs2507555321, rs1451776623, rs757396750, rs2507561650, rs2507554908, rs2507540629, rs2507553289, rs2507561549, rs773553639, rs773526895, rs762368691, rs1398583523, rs886043239, rs1168592296, rs1567639913, rs2507553073, rs2507542090, rs2151097217, rs2507562564, rs2507554748, rs2507555301, rs2507553104, rs2507560739, rs2507544168, rs1178008902, rs2507557395, rs2507543793, rs2507553027, rs2507553112, rs1284899632, rs2507563794, rs1156634884, rs2507562598, rs2507562677, rs2507552992, rs1969852472, rs1323709805, rs2507563979, rs2507538508, rs2507541545, rs2507565075, rs1275507780, rs770675734, rs2507544221, rs2507560277, rs2507541644, rs1308581878, rs2509299464, rs1387784932, rs2509299493, rs1455970082, rs2507556876, rs774425374, rs1969985315, rs2507560746, rs2507561424, rs2507560031, rs2507553534, rs561591789, rs2507557553, rs2507553591, rs2507560224, rs1385608948, rs1970018420, rs2507561429, rs2507541898, rs866487633, rs2494853019, rs2507556956, rs2507557171, rs1555546765, rs2507541023, rs2507542040, rs2507554064, rs1157836847, rs121909510, rs121909511, rs121909514, rs121909512, rs121909513, rs879255562, rs28999110, rs886037628, rs753828284, rs121909515, rs121909516, rs121909517, rs879255563, rs2509300003, rs2507557511, rs2509299991, rs1430654625, rs2507562549, rs1268826811, rs370019023, rs759226183, rs755303686, rs776927709, rs1555546465, rs1555547003, rs1423995073, rs1555546315, rs398122830, rs28929768, rs1555546096, rs932032926, rs1567635954, rs1407243713, rs1567638401, rs756675414, rs1597612665, rs1597613302, rs781774131, rs760022829, rs1597619440, rs1597621353, rs1187421976, rs977512223, rs1208462125, rs1597622118, rs1597613479, rs1597621396, rs1597618787, rs779816027, rs1969834618, rs1969839736, rs1255916068, rs1597618854, rs1969973509, rs1320610655, rs373710822, rs1969817843, rs1970005446, rs769945146, rs1969972830, rs1194524772, rs1969856640, rs1429181185, rs748289906	RCV001387232 RCV001382386 RCV001384046 RCV001380837 RCV001385062 RCV001383189 RCV001390528 RCV001385250 RCV001381301 RCV001389638 RCV001388914 RCV001390290 RCV003468447 RCV001868855 RCV001915506 RCV001960611 RCV001941753 RCV001960615 RCV001938516 RCV002017387 RCV002042564 RCV001994825 RCV001897592 RCV001921727 RCV002035485 RCV001962925 RCV001980807 RCV001922767 RCV001951117 RCV002038108 RCV001959033 RCV001958730 RCV001873833 RCV001866726 RCV003526117 RCV003774826 RCV002290309 RCV003064991 RCV002516534 RCV003064380 RCV003064382 RCV003064383 RCV003085244 RCV002638847 RCV002725759 RCV002796572 RCV002824158 RCV002851140 RCV002851335 RCV002838629 RCV002852767 RCV002881301 RCV002913940 RCV002877491 RCV002881785 RCV002881991 RCV002937691 RCV003009612 RCV002995291 RCV003013354 RCV003021239 RCV003037923 RCV003028603 RCV003034270 RCV003048033 RCV003466021 RCV000804085 RCV000531169 RCV003466046 RCV000313170 RCV003325176 RCV003475700 RCV003475701 RCV003475702 RCV003475704 RCV003475706 RCV003475708 RCV003475709 RCV003475710 RCV003475711 RCV003468422 RCV003468423 RCV003468424 RCV003468425 RCV003468426 RCV003468427 RCV003468429 RCV003468430 RCV003468431 RCV003468433 RCV003468434 RCV003468435 RCV003468436 RCV003468437 RCV003468438 RCV003468439 RCV003468440 RCV003468441 RCV003468442 RCV003468443 RCV003468444 RCV003468448 RCV003468449 RCV003468450 RCV003525517 RCV003525546 RCV005022014 RCV003527059 RCV003527223 RCV003527224 RCV003527225 RCV003527443 RCV003526319 RCV003527635 RCV003527594 RCV003526486 RCV003641147 RCV003641198 RCV003641413 RCV003641490 RCV003641389 RCV003641595 RCV003641732 RCV003641743 RCV003641821 RCV003641836 RCV003640538 RCV003640777 RCV003640771 RCV003640781 RCV003828154 RCV003842476 RCV003870084 RCV000020011 RCV000020012 RCV000801881 RCV000691820 RCV000687026 RCV000641735 RCV000020020 RCV001851958 RCV000551845 RCV001378736 RCV000707387 RCV001382552 RCV003466866 RCV004575651 RCV004575653 RCV004575654 RCV004575655 RCV004575656 RCV004575657 RCV004575658 RCV000707546 RCV000698763 RCV001217965 RCV001384427 RCV001212082 RCV001379903 RCV000534124 RCV000532386 RCV000554883 RCV000525429 RCV002530364 RCV000033234 RCV000641732 RCV000641734 RCV000641737 RCV000701220 RCV000706373 RCV000688184 RCV000687462 RCV000793879 RCV000797995 RCV000811751 RCV000815982 RCV000795308 RCV000807216 RCV000816605 RCV000819423 RCV000801549 RCV000821188 RCV000802166 RCV002538884 RCV001377986 RCV000989681 RCV001351372 RCV001044724 RCV001036015 RCV001058201 RCV001044026 RCV001070426 RCV001069955 RCV001065700 RCV001066461 RCV001175330 RCV001218233 RCV001203807 RCV001203229 RCV001237402 RCV001231951 RCV001244658 RCV003469481	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Congenital myasthenic syndrome 4B	Pathogenic; Likely pathogenic	rs2151094729, rs2151098928, rs773929089, rs2151094378, rs1567636622, rs754975887, rs771486772, rs773526895, rs762368691, rs1168592296, rs2507562598, rs2507562677, rs2507538508, rs2507541644, rs2507543360, rs2509299493, rs2507556876, rs1969985315, rs1157836847, rs121909514, rs121909512, rs879255562, rs886037628, rs753828284, rs121909515, rs121909516, rs121909517, rs879255563, rs370019023, rs759226183, rs1555546465, rs1555546765, rs193919341, rs1567638401, rs756675414, rs1309292778, rs760022829, rs1597621353, rs1208462125, rs1597622118, rs1597613479, rs1969834618, rs1969839736, rs1320610655, rs373710822, rs1970039895, rs769945146, rs748289906	RCV005016938 RCV005016939 RCV002491896 RCV005253983 RCV002251003 RCV005409869 RCV005021570 RCV001836761 RCV001843011 RCV003325176 RCV005021993 RCV004775408 RCV005021994 RCV005021995 RCV004596593 RCV005022014 RCV005014776 RCV005014777 RCV005015060 RCV005016282 RCV000020014 RCV002288513 RCV005016284 RCV000853364 RCV005016285 RCV000020028 RCV000020029 RCV005016288 RCV004596174 RCV002502514 RCV002506268 RCV005018937 RCV000033219 RCV005021055 RCV005021053 RCV005021160 RCV001328997 RCV005021243 RCV005409751 RCV002501076 RCV005409755 RCV005021366 RCV005021344 RCV005021422 RCV005021409 RCV001198809 RCV002491611 RCV001250153	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Congenital myasthenic syndrome 4C	Pathogenic; Likely pathogenic	rs2151094729, rs2151098928, rs773929089, rs754975887, rs786204773, rs771486772, rs773526895, rs762368691, rs1458613529, rs1168592296, rs2507562598, rs2507538508, rs2507541644, rs2509299493, rs2507556876, rs1969985315, rs1157836847, rs121909514, rs121909512, rs121909513, rs879255562, rs879253722, rs879253723, rs886037628, rs753828284, rs121909515, rs121909516, rs121909517, rs879255563, rs370019023, rs759226183, rs1555546465, rs1423995073, rs1555546765, rs1430654625, rs28929768, rs1567638401, rs756675414, rs1567636493, rs1309292778, rs1597621353, rs1208462125, rs1597622118, rs1597613479, rs1597621396, rs1597618787, rs1969834618, rs1969839736, rs1320610655, rs373710822, rs1970005446, rs769945146	RCV005016938 RCV005016939 RCV002491896 RCV005409869 RCV000169653 RCV005021570 RCV000020024 RCV001843011 RCV003326035 RCV003325176 RCV005021993 RCV005021994 RCV005021995 RCV005022014 RCV005014776 RCV005014777 RCV005015060 RCV000020013 RCV003325942 RCV000020015 RCV000020016 RCV000020017 RCV000020018 RCV000020023 RCV000020025 RCV000020026 RCV001004608 RCV005016287 RCV000020030 RCV004596174 RCV002502514 RCV002506268 RCV002468588 RCV005018937 RCV000578225 RCV003325970 RCV005021055 RCV005021053 RCV000761543 RCV005021160 RCV005021243 RCV005409751 RCV002501076 RCV001523787 RCV005870938 RCV004768763 RCV005021366 RCV005021344 RCV005021422 RCV005021409 RCV003991480 RCV002491611	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Multifocal seizures	Likely pathogenic	rs1597618794	RCV000984809	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodevelopmental delay	Likely pathogenic	rs1597618794	RCV000984809	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Slow-Channel Congenital Myasthenia Syndrome	Pathogenic	rs762368691	RCV001813774	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Tip-toe gait	Likely pathogenic	rs2151098410, rs121909516	RCV002227952 RCV003319975	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BLEPHAROPTOSIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital Myasthenic Syndrome, Dominant/Recessive	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Distal myopathy	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Likely benign; Conflicting classifications of pathogenicity; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myasthenic syndrome, congenital, 1B, fast-channel	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
MYASTHENIC SYNDROME, CONGENITAL, 4A, SLOW-CHANNEL	—	Disgenet, HPO Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYASTHENIC SYNDROME, CONGENITAL, 4B, FAST-CHANNEL	—	Disgenet, HPO Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY	—	HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYASTHENIC SYNDROME, CONGENITAL, FAST-CHANNEL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYASTHENIC SYNDROME, CONGENITAL, POSTSYNAPTIC SLOW-CHANNEL	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYASTHENIC SYNDROME, CONGENITAL, TYPE ID	—	CTD	★★☆☆☆ 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
Ovarian serous cystadenocarcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POSTSYNAPTIC CONGEN MYASTHENIC SYNDROMES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POSTSYNAPTIC CONGENITAL MYASTHENIC SYNDROME	—	GWAS catalog, Orphanet GWAS catalog, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Alzheimer Disease	Alzheimer disease	Pubtator	34099642, 40542379	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Arthrogryposis	Arthrogryposis multiplex congenita	HPO_DG			★☆☆☆☆ Found in Text Mining only
Azoospermia	Azoospermia	BEFREE	31125047		★☆☆☆☆ Found in Text Mining only
Bernard-Soulier Syndrome	Bernard Soulier Syndrome	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
BERNARD-SOULIER SYNDROME, TYPE A1	Bernard Soulier Syndrome	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
BERNARD-SOULIER SYNDROME, TYPE A2, AUTOSOMAL DOMINANT	Bernard Soulier Syndrome	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bulbar palsy	Bulbar palsy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Bulbar Palsy Progressive	Bulbar palsy	Pubtator	29383513	Associate	★☆☆☆☆ 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
Clumsiness - motor delay	Motor delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital myasthenic syndrome ib	Congenital myasthenic syndrome	Pubtator	27717316, 29702980	Associate	★☆☆☆☆ Found in Text Mining only
Deglutition Disorders	Dysphagia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	HPO_DG			★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophageal neoplasm	Pubtator	23874846	Associate	★☆☆☆☆ Found in Text Mining only
Facial paralysis	Facial paralysis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Gross motor development delay	Developmental delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hirschsprung Disease	Hirschsprung Disease	BEFREE	30663199		★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid	Myeloid leukemia	Pubtator	6972533	Associate	★☆☆☆☆ Found in Text Mining only
Macrothrombocytopenia	Macrothrombocytopenia	CLINVAR_DG	31064749		★☆☆☆☆ Found in Text Mining only
Malnutrition	Malnutrition	BEFREE	15471888		★☆☆☆☆ Found in Text Mining only
Myasthenia Gravis	Myasthenia Gravis	BEFREE	14981744, 18657869, 26363966		★☆☆☆☆ Found in Text Mining only
Myasthenia Gravis	Myasthenia Gravis	LHGDN	15652413		★☆☆☆☆ Found in Text Mining only
MYASTHENIA, FAMILIAL INFANTILE, 1	Myasthenia Gravis	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Myasthenias	Myasthenia Gravis	BEFREE	26363966		★☆☆☆☆ Found in Text Mining only
Myasthenias	Myasthenia Gravis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Myasthenic syndrome congenital type Id	Myasthenic syndrome	Pubtator	28690392	Associate	★☆☆☆☆ Found in Text Mining only
MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL	Myasthenic Syndrome	GENOMICS_ENGLAND_DG	21175599		★☆☆☆☆ Found in Text Mining only
MYASTHENIC SYNDROME, CONGENITAL, 1B, FAST-CHANNEL	Myasthenic Syndrome	CLINVAR_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
MYASTHENIC SYNDROME, CONGENITAL, 4A, SLOW-CHANNEL	Myasthenic Syndrome	UNIPROT_DG	12141316, 27375219, 7531341, 7538206, 8872460		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYASTHENIC SYNDROME, CONGENITAL, 4A, SLOW-CHANNEL	Myasthenic Syndrome	CLINVAR_DG	12417530, 14592868, 21822932, 22678886, 27779167, 7538206, 8755487, 8872460, 9158150		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYASTHENIC SYNDROME, CONGENITAL, 4A, SLOW-CHANNEL	Myasthenic Syndrome	GENOMICS_ENGLAND_DG	21175599		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYASTHENIC SYNDROME, CONGENITAL, 4B, FAST-CHANNEL	Myasthenic Syndrome	UNIPROT_DG	10962020, 22592360, 8755487		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYASTHENIC SYNDROME, CONGENITAL, 4B, FAST-CHANNEL	Myasthenic Syndrome	GENOMICS_ENGLAND_DG	21175599		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYASTHENIC SYNDROME, CONGENITAL, 4B, FAST-CHANNEL	Myasthenic Syndrome	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY	Myasthenic Syndrome	CLINVAR_DG	10514102, 16550914, 9668239		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY	Myasthenic Syndrome	GENOMICS_ENGLAND_DG	21175599		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY	Myasthenic Syndrome	UNIPROT_DG	9158150		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY	Myasthenic Syndrome	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myasthenic Syndrome, Congenital, Fast-Channel	Myasthenic Syndrome	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myasthenic Syndromes Congenital	Myasthenic syndrome	Pubtator	20562457, 27375219, 27717316, 27779167, 28024842, 28690392, 29383513, 29702980, 31560172, 34932651, 35466948, 35670010, 36891870, 37721175, 9539130	Associate	★☆☆☆☆ Found in Text Mining only
Myasthenic Syndromes, Congenital	Myasthenic Syndrome	BEFREE	10211467, 10534268, 11865139, 12536367, 16061559, 16087917, 16916845, 17363247, 20562457, 21175599, 26363966, 27634344, 27717316, 28024842, 29054425, 29383513, 29395675, 29702980		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myasthenic Syndromes, Congenital	Myasthenic Syndrome	CLINVAR_DG	10534268, 15322984, 15951177, 20562457, 21150643, 27717316, 29054425, 29383513, 9158150, 9708546		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myasthenic Syndromes, Congenital	Myasthenic Syndrome	LHGDN	16087917, 16198106		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	BEFREE	17612710		★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neonatal Hypotonia	Hypotonia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	18451222		★☆☆☆☆ Found in Text Mining only
Postsynaptic congenital myasthenic syndromes	Myasthenic Syndrome	Orphanet			★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Respiratory Failure	Respiratory Failure	HPO_DG			★☆☆☆☆ Found in Text Mining only
Scoliosis	Scoliosis	Pubtator	27779167	Associate	★☆☆☆☆ Found in Text Mining only
Sinusitis	Sinusitis	Pubtator	29570706	Associate	★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sudden episodic apnea	Sudden episodic apnea	HPO_DG			★☆☆☆☆ Found in Text Mining only
Thymoma	Thymoma	BEFREE	18657869		★☆☆☆☆ Found in Text Mining only
Thymoma	Thymoma	LHGDN	18657869		★☆☆☆☆ Found in Text Mining only
Thymus Hyperplasia	Thymus Hyperplasia	BEFREE	26363966		★☆☆☆☆ Found in Text Mining only
Von Willebrand disease, platelet type	von Willebrand disorder	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only