RAPSN (receptor associated protein of the synapse)

Gene

• Entrez ID: 5913
• Gene name: Receptor associated protein of the synapse
• Gene symbol: RAPSN
• Synonyms (NCBI Gene): CMS11, CMS4C, FADS, FADS2, RAPSYN, RNF205
• Chromosome: 11
• Chromosome location: 11p11.2
• Summary: This gene encodes a member of a family of proteins that are receptor associated proteins of the synapse. The encoded protein contains a conserved cAMP-dependent protein kinase phosphorylation site, and plays a critical role in clustering and anchoring nic

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs45547231	G>A,T	Benign, likely-benign, pathogenic	Intron variant
rs56040810	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, intron variant, synonymous variant
rs56245238	G>A	Likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs104894293	A>G	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant, intron variant
rs104894294	G>A	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs104894299	G>T	Pathogenic, likely-pathogenic, pathogenic-likely-pathogenic, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs104894300	A>G	Pathogenic	Missense variant, coding sequence variant
rs104894301	G>A,T	Pathogenic	Stop gained, synonymous variant, coding sequence variant, intron variant
rs121909254	C>A,G,T	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs121909255	C>T	Pathogenic	Coding sequence variant, missense variant
rs121909256	A>G	Pathogenic	Coding sequence variant, missense variant
rs121909257	G>A,C	Pathogenic	Coding sequence variant, missense variant
rs201947904	C>A,G,T	Pathogenic	Stop gained, coding sequence variant, missense variant
rs375218091	C>A,T	Uncertain-significance, pathogenic	Missense variant, coding sequence variant
rs559933584	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs560525099	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs757215612	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs767507908	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs786200904	->AACAG	Pathogenic	Frameshift variant, coding sequence variant
rs786200905	T>C	Pathogenic	Upstream transcript variant
rs786205885	->AG	Pathogenic	Frameshift variant, coding sequence variant
rs863224911	T>C	Likely-pathogenic	Missense variant, coding sequence variant, intron variant
rs863224912	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs886037842	G>C	Pathogenic	Upstream transcript variant
rs886041841	CTG>TTA	Pathogenic	Stop gained, coding sequence variant, intron variant
rs886043559	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs1040279711	G>A,T	Likely-pathogenic	Missense variant, intron variant, coding sequence variant
rs1131691986	TGTGA>CCATCTCCTTGTAGCGGCCCATCT	Pathogenic	Coding sequence variant, frameshift variant
rs1479498379	G>A	Pathogenic	Stop gained, coding sequence variant
rs1555142142	TT>-	Pathogenic	Coding sequence variant, frameshift variant
rs1555142603	G>A	Pathogenic	Coding sequence variant, intron variant, stop gained
rs1595902947	T>G	Pathogenic	Splice acceptor variant
rs1595903667	G>A	Pathogenic	Coding sequence variant, stop gained

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	32814053
GO:0005737	Component	Cytoplasm	IEA
GO:0005794	Component	Golgi apparatus	IEA
GO:0005813	Component	Centrosome	IDA
GO:0005829	Component	Cytosol	IDA
GO:0005856	Component	Cytoskeleton	IEA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA
GO:0005886	Component	Plasma membrane	IEA
GO:0007268	Process	Chemical synaptic transmission	IEA
GO:0007268	Process	Chemical synaptic transmission	TAS	8812503
GO:0007271	Process	Synaptic transmission, cholinergic	IBA
GO:0007271	Process	Synaptic transmission, cholinergic	IGI	18420419
GO:0007528	Process	Neuromuscular junction development	IEA
GO:0008270	Function	Zinc ion binding	IEA
GO:0016020	Component	Membrane	IEA
GO:0030674	Function	Protein-macromolecule adaptor activity	IEA
GO:0031594	Component	Neuromuscular junction	IBA
GO:0031594	Component	Neuromuscular junction	IEA
GO:0033130	Function	Acetylcholine receptor binding	IBA
GO:0033130	Function	Acetylcholine receptor binding	IDA	18420419
GO:0033130	Function	Acetylcholine receptor binding	IEA
GO:0035255	Function	Ionotropic glutamate receptor binding	IEA
GO:0043495	Function	Protein-membrane adaptor activity	IEA
GO:0045202	Component	Synapse	IEA
GO:0045211	Component	Postsynaptic membrane	IEA
GO:0045211	Component	Postsynaptic membrane	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0071340	Process	Skeletal muscle acetylcholine-gated channel clustering	IEA
GO:0097049	Process	Motor neuron apoptotic process	IEA
GO:0098879	Function	Structural constituent of postsynaptic specialization	IEA
GO:0098880	Process	Maintenance of postsynaptic specialization structure	IEA
GO:0099634	Component	Postsynaptic specialization membrane	IEA
GO:0099645	Process	Neurotransmitter receptor localization to postsynaptic specialization membrane	IEA
GO:1900075	Process	Positive regulation of neuromuscular synaptic transmission	IBA
GO:1900075	Process	Positive regulation of neuromuscular synaptic transmission	IEA
GO:1901626	Process	Regulation of postsynaptic membrane organization	IEA
GO:1903540	Process	Establishment of protein localization to postsynaptic membrane	IEA
GO:2000673	Process	Positive regulation of motor neuron apoptotic process	IEA

Other IDs

• MIM: 601592
• HGNC: 9863
• e!Ensembl: ENSG00000165917

Protein

• UniProt ID: Q13702
• Protein name: 43 kDa receptor-associated protein of the synapse (RAPsyn) (43 kDa postsynaptic protein) (Acetylcholine receptor-associated 43 kDa protein) (RING finger protein 205)
• Protein function: Postsynaptic protein required for clustering of nicotinic acetylcholine receptors (nAChRs) at the neuromuscular junction. It may link the receptor to the underlying postsynaptic cytoskeleton, possibly by direct association with actin or spectrin
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF10579	Rapsyn_N	1 → 80	Rapsyn N-terminal myristoylation and linker region	Family
  PF17874	TPR_MalT	136 → 360	MalT-like TPR region	Domain
  PF13639	zf-RING_2	361 → 403	Ring finger domain	Domain

• Sequence:

  MGQDQTKQQIEKGLQLYQSNQTEKALQVWTKVLEKSSDLMGRFRVLGCLVTAHSEMGRYK
  EMLKFAVVQIDTARELEDADFLLESYLNLARSNEKLCEFHKTISYCKTCLGLPGTRAGAQ
  LGGQVSLSMGNAFLGLSVFQKALESFEKALRYAHNNDDAMLECRVCCSLGSFYAQVKDYE
  KALFFPCKAAELVNNYGKGWSLKYRAMSQYHMAVAYRLLGRLGSAMECCEESMKIALQHG
  DRPLQALCLLCFADIHRSRGDLETAFPRYDSAMSIMTEIGNRLGQVQALLGVAKCWVARK
  ALDKALDAIERAQDLAEEVGNKLSQLKLHCLSESIYRSKGLQRELRAHVVRFHECVEETE
  LYCGLCGESIGEKNSRLQALPCSHIFHLRCLQNNGTRSCPNCRRSSMKPGFV

• Sequence length: 412

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	rs786200905	RCV001813966	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Congenital myasthenic syndrome	Likely pathogenic; Pathogenic	rs1421354085, rs749287203, rs104894294, rs2153308170, rs2496086825, rs786205885, rs104894299, rs786200905, rs121909254, rs886037842, rs767507908, rs1131691986, rs1479498379, rs1555142142, rs201947904, rs1595903667, rs761584017, rs368695664	RCV001826152 RCV001826172 RCV004801090 RCV004782844 RCV005608855 RCV001826868 RCV000235028 RCV000235034 RCV001275253 RCV000235022 RCV001833532 RCV002298624 RCV003114675 RCV001275241 RCV001830818 RCV001836056 RCV001832551 RCV005432564	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Congenital myasthenic syndrome 11	Likely pathogenic; Pathogenic	rs2153308410, rs1421354085, rs1262674788, rs1595899478, rs2153311231, rs749287203, rs2153311780, rs2153311290, rs2153309050, rs375218091, rs2076423585, rs2153311310, rs104894294, rs2076368388, rs760999895, rs2153309143, rs374604570, rs2153308170, rs1475015182, rs2153306243, rs1015604630, rs2076433607, rs2496086825, rs1217462358, rs2496130523, rs786205885, rs748561503, rs1325133502, rs121909254, rs2496138843, rs559933584, rs11556408, rs2496138853, rs2496129933, rs2496080892, rs2076432332, rs104894299, rs104894300, rs786200904, rs104894301, rs786200905, rs121909255, rs2496137457, rs886037842, rs2496138547, rs2496131085, rs2076425356, rs2496097284, rs2496136668, rs2076368824, rs2496106871, rs2496099950, rs2496102548, rs2496099964, rs2076431110, rs2496131191, rs767507908, rs560525099, rs1555142603, rs1479498379, rs1555142142, rs765096923, rs201947904, rs1595903667, rs1595902947, rs759488854, rs761584017, rs368695664, rs763094966, rs1565689206, rs2076422949	RCV001377328 RCV001379323 RCV001390845 RCV001385002 RCV001382472 RCV001387007 RCV001387008 RCV002541162 RCV001868867 RCV002034290 RCV001929616 RCV001941764 RCV001938528 RCV001923478 RCV001950912 RCV001972700 RCV001892251 RCV002018846 RCV002000681 RCV002032986 RCV001956321 RCV001899155 RCV001909290 RCV003058311 RCV003062376 RCV003062377 RCV000170473 RCV003091624 RCV003079119 RCV002579002 RCV003090311 RCV003121739 RCV001313406 RCV002792011 RCV002810112 RCV002885426 RCV002976462 RCV003023050 RCV000170316 RCV000008513 RCV000008514 RCV000008516 RCV000008517 RCV000008520 RCV000008521 RCV000008522 RCV003224949 RCV001215451 RCV004818347 RCV005051316 RCV003779089 RCV003779090 RCV003779091 RCV003780098 RCV003806520 RCV003791216 RCV003802714 RCV003801835 RCV003818016 RCV003809794 RCV003810400 RCV001861510 RCV002519529 RCV000542391 RCV000534807 RCV001861675 RCV001232917 RCV000822748 RCV001225209 RCV002290990 RCV001050927 RCV001061762 RCV001066055 RCV001219154 RCV001224618 RCV001209146	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Congenital myasthenic syndrome 4C	Likely pathogenic; Pathogenic	rs104894299	RCV000008512	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Fetal akinesia deformation sequence 1	Likely pathogenic; Pathogenic	rs2153308410, rs1421354085, rs1262674788, rs1595899478, rs2153311231, rs749287203, rs2153311780, rs2153311290, rs2153309050, rs375218091, rs2076423585, rs2153311310, rs104894294, rs2076368388, rs760999895, rs2153309143, rs374604570, rs2153308170, rs1475015182, rs2153306243, rs1015604630, rs2076433607, rs2496086825, rs1217462358, rs2496130523, rs748561503, rs1325133502, rs121909254, rs2496138843, rs559933584, rs11556408, rs2496138853, rs2496129933, rs2496080892, rs2076432332, rs104894299, rs104894300, rs786200904, rs786200905, rs121909255, rs886037842, rs2496131085, rs2076425356, rs2496097284, rs2496136668, rs2076368824, rs2496106871, rs2496099950, rs2496102548, rs2496099964, rs2076431110, rs2496131191, rs767507908, rs560525099, rs1555142603, rs1479498379, rs1555142142, rs765096923, rs201947904, rs1595903667, rs759488854, rs761584017, rs368695664, rs763094966, rs1565689206, rs2076422949	RCV001377328 RCV001379323 RCV001390845 RCV001385002 RCV001382472 RCV001387007 RCV001387008 RCV002541162 RCV001868867 RCV002034290 RCV001929616 RCV001941764 RCV001938528 RCV001923478 RCV001950912 RCV001972700 RCV001892251 RCV002018846 RCV002000681 RCV002032986 RCV001956321 RCV001899155 RCV001909290 RCV003058311 RCV003062376 RCV003062377 RCV003091624 RCV003079119 RCV002579002 RCV003090311 RCV003121739 RCV001313406 RCV002792011 RCV002810112 RCV002885426 RCV002976462 RCV003023050 RCV000286918 RCV001851738 RCV002512910 RCV000664547 RCV001343279 RCV000704275 RCV001231489 RCV001215451 RCV003779088 RCV003779089 RCV003779090 RCV003779091 RCV003780098 RCV003806520 RCV003791216 RCV003802714 RCV003801835 RCV003818016 RCV003809794 RCV003810400 RCV001861510 RCV002519529 RCV000542391 RCV000534807 RCV001861675 RCV001232917 RCV000822748 RCV001225209 RCV001050927 RCV001061762 RCV001066055 RCV001219154 RCV001224618 RCV001209146	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Fetal akinesia deformation sequence 2	Likely pathogenic; Pathogenic	rs1421354085, rs1595899478, rs2153311231, rs749287203, rs2153311780, rs2153311290, rs2153309050, rs2076368388, rs760999895, rs2153308170, rs1475015182, rs2496086825, rs786205885, rs559933584, rs104894299, rs104894300, rs786200904, rs786200905, rs104894294, rs121909254, rs121909255, rs121909256, rs886037842, rs2496099745, rs2496138547, rs2496131085, rs2076425356, rs2496080518, rs2496087067, rs2496097284, rs1319120469, rs2496137995, rs2496102492, rs1439403317, rs2496080823, rs2496136668, rs2496137038, rs2496102548, rs2496129949, rs767507908, rs560525099, rs1479498379, rs1555142142, rs765096923, rs201947904, rs1595903667, rs759488854, rs761584017, rs368695664, rs1565689206	RCV003462961 RCV003463001 RCV003469677 RCV005050369 RCV003463017 RCV003464136 RCV005050409 RCV003464238 RCV003464308 RCV003464355 RCV005050420 RCV003465922 RCV005049454 RCV003462285 RCV003466838 RCV003460439 RCV004566695 RCV001824563 RCV003466839 RCV002476946 RCV003460443 RCV000008524 RCV003469194 RCV003234959 RCV003471785 RCV003471786 RCV003471787 RCV003471788 RCV003463451 RCV003471789 RCV003463452 RCV003471790 RCV003463453 RCV003463455 RCV003471791 RCV003463456 RCV003471792 RCV004573334 RCV004574690 RCV005049547 RCV002466497 RCV003470767 RCV002280820 RCV003461050 RCV003461280 RCV003467548 RCV003467761 RCV003462591 RCV005049757 RCV003462765	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hydrops fetalis	Pathogenic	rs1131691986, rs2076335306	RCV001257395 RCV001257394	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Myopathy	Likely pathogenic; Pathogenic	rs104894299, rs104894294	RCV000414829 RCV000415079	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
RAPSN-related disorder	Likely pathogenic; Pathogenic	rs104894299, rs786200904, rs121909255, rs560525099, rs1555142142, rs759488854	RCV004732539 RCV004532313 RCV005632171 RCV001731679 RCV005632582 RCV004536097	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANKYLOSING SPONDYLITIS AND OTHER INFLAMMATORY SPONDYLOPATHIES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Arthrogryposis multiplex congenita	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
AUTOIMMUNE DISEASES	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital Myasthenic Syndrome, Recessive	Benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FETAL AKINESIA DEFORMATION SEQUENCE	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLAUCOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Global developmental delay	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Lung cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MOOD DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MORBID OBESITY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY	—	Disgenet, HPO Disgenet, 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, WITH FACIAL DYSMORPHISM, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYASTHENIC SYNDROMES, CONGENITAL	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUROMUSCULAR DISEASE	—	GenCC	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUROMUSCULAR DISEASES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUROTIC DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OPEN-ANGLE GLAUCOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PENA-SHOKEIR SYNDROME TYPE I	—	Disgenet	★★☆☆☆ 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
PROSTATE CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Akinesia	Akinesia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Arthrogryposis	Arthrogryposis multiplex congenita	CLINVAR_DG	31680123		★☆☆☆☆ Found in Text Mining only
Arthrogryposis	Arthrogryposis multiplex congenita	HPO_DG			★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	21933193, 26283408		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	CTD_human_DG	9668287		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar Disorder	BEFREE	31455761		★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	27577081		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	27577081, 40430008	Associate	★☆☆☆☆ Found in Text Mining only
Byzanthine arch palate	High palate	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	18320251, 24853887, 25008580, 29956189		★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	27273350	Associate	★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of lung	Pulmonary hypoplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital myasthenic syndrome ib	Congenital myasthenic syndrome	Pubtator	27966543	Associate	★☆☆☆☆ Found in Text Mining only
Congenital myasthenic syndrome with episodic apnea	Congenital myasthenic syndrome	Pubtator	29189923	Associate	★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	18842780, 21040914, 23383292, 28237083, 29074585		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	18842780, 21040914, 23383292, 27004414, 28237083, 29074585		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	Pubtator	18842780	Associate	★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	18842780, 21040914, 23383292, 28237083, 29074585		★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dandy-Walker Syndrome	Dandy-Walker Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Depressive Disorder	Major depressive disorder	Pubtator	27273350	Associate	★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	28552045		★☆☆☆☆ Found in Text Mining only
Dermatitis Atopic	Atopic dermatitis	Pubtator	26633493	Associate	★☆☆☆☆ Found in Text Mining only
Dermatitis, Atopic	Dermatitis	BEFREE	26633493		★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	21733300		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	21733300		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	33290408	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	24985009, 27004414, 29032079, 29899246		★☆☆☆☆ Found in Text Mining only
Dyslipidemias	Dyslipidemias	BEFREE	29074585, 29858861		★☆☆☆☆ Found in Text Mining only
Eczema	Eczema	BEFREE	20948998, 21366865, 26633493		★☆☆☆☆ Found in Text Mining only
Eczema	Eczema	Pubtator	26633493	Associate	★☆☆☆☆ Found in Text Mining only
Facial paralysis	Facial paralysis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Familial lichen amyloidosis	Lichen amyloidosis	BEFREE	27197070		★☆☆☆☆ Found in Text Mining only
Fetal akinesia deformation sequence	Fetal Akinesia Deformation Sequence	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Generalized amyotrophy	Amyotrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	Pubtator	32528159	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gross motor development delay	Developmental delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	27273350		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	29549916		★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	BEFREE	25008580		★☆☆☆☆ Found in Text Mining only
Lethal multiple pterygium syndrome	Lethal Multiple Pterygium Syndrome	Orphanet			★☆☆☆☆ Found in Text Mining only
Lymphangioma, Cystic	Cystic hygroma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	BEFREE	28552045		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Major Depressive Disorder	Mental Depression	GWASCAT_DG	29942085		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant neoplasm of breast	Breast Cancer	BEFREE	27577081		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	27197070		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	29491470		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	37481560	Inhibit	★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	28552045		★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	21733300		★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mild cognitive disorder	Cognitive disorder	BEFREE	27273350		★☆☆☆☆ Found in Text Mining only
Mood Disorders	Mood Disorder	GWASCAT_DG	29942085		★☆☆☆☆ Found in Text Mining only
Multiple pterygium syndrome	Multiple Pterygium Syndrome	BEFREE	18179903		★☆☆☆☆ Found in Text Mining only
MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE	Multiple Pterygium Syndrome	ORPHANET_DG			★☆☆☆☆ Found in Text Mining only
Muscular Dystrophies, Limb-Girdle	Limb-Girdle Muscular Dystrophy	GENOMICS_ENGLAND_DG	25792100		★☆☆☆☆ Found in Text Mining only
Myasthenic syndrome congenital type Id	Myasthenic syndrome	Pubtator	19620612	Associate	★☆☆☆☆ Found in Text Mining only
Myasthenic Syndrome Congenital with Facial Dysmorphism associated with Acetylcholine Receptor Deficiency	Myasthenic syndrome	Pubtator	36591657	Associate	★☆☆☆☆ Found in Text Mining only
MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY	Myasthenic Syndrome, Congenital, Associated With Acetylcholine Receptor Deficiency	UNIPROT_DG	11791205, 12730725, 12796535, 12929188, 14504330, 15036330, 15328566, 16931511, 17594401		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY	Myasthenic Syndrome, Congenital, Associated With Acetylcholine Receptor Deficiency	CLINVAR_DG	11791205, 12730725, 12796535, 12807980, 12929188, 14504330, 15286164, 16945936, 17190963, 17594401, 19620612, 20157724, 21228398, 21305573, 24319099, 25194721		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY	Myasthenic Syndrome, Congenital, Associated With Acetylcholine Receptor Deficiency	GENOMICS_ENGLAND_DG	14504330, 22678886		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY	Myasthenic Syndrome	CLINVAR_DG	11791205, 12730725, 12796535, 12807980, 14659409, 15036330, 15328566, 15482960, 16945936, 17190963, 19620612, 20157724, 21305573		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY	Myasthenic Syndrome	GENOMICS_ENGLAND_DG	18179903		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myasthenic Syndrome, Congenital, with Facial Dysmorphism, associated with Acetylcholine Receptor Deficiency	Myasthenic Syndrome, Congenital, With Facial Dysmorphism, Associated With Acetylcholine Receptor Deficiency	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myasthenic Syndromes Congenital	Myasthenic syndrome	Pubtator	18179903, 19620612, 20562457, 20930056, 23365176, 26927095, 27966543, 28024842, 31226102, 33465529, 36591657	Associate	★☆☆☆☆ Found in Text Mining only
Myasthenic Syndromes, Congenital	Myasthenic Syndrome	BEFREE	12651869, 12730725, 12796535, 12929188, 15036330, 15282317, 15482960, 16931511, 18252226, 20157724, 21305573, 22326364, 25194721, 27009626, 27966543, 28024842, 29054425, 30266223, 31730230		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myasthenic Syndromes, Congenital	Myasthenic Syndrome	LHGDN	12651869, 12730725, 12807980, 15252722, 15482960, 16931511		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myasthenic Syndromes, Congenital	Myasthenic Syndrome	CLINVAR_DG	12651869, 12807980, 14729848, 15482960		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myasthenic Syndromes, Congenital	Myasthenic Syndrome	GENOMICS_ENGLAND_DG	14504330, 25792100		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myasthenic Syndromes, Congenital, Slow Channel	Myasthenic Syndrome	BEFREE	27397848		★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	CTD_human_DG	9668287		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Myopathy	Myopathy	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neonatal Hypotonia	Hypotonia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	28598979, 29795460		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	29795460, 32741103	Associate	★☆☆☆☆ Found in Text Mining only
Pena Shokeir syndrome type 1	Pena-shokeir syndrome	Pubtator	25537362, 33168876	Associate	★☆☆☆☆ Found in Text Mining only
Pena-Shokeir syndrome type I	Pena Shokeir syndrome	CLINVAR_DG	11791205, 12796535, 14504330, 16945936, 17594401, 19620612, 20157724, 21228398, 21305573, 24319099, 25194721		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pena-Shokeir syndrome type I	Pena Shokeir syndrome	BEFREE	18179903, 19645055, 26147564, 28495245, 31730230		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pena-Shokeir syndrome type I	Pena Shokeir syndrome	ORPHANET_DG	18179903		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pena-Shokeir syndrome type I	Pena Shokeir syndrome	GENOMICS_ENGLAND_DG	18179903, 25792100		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pena-Shokeir syndrome type I	Pena Shokeir syndrome	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PNEUMOTHORAX, PRIMARY SPONTANEOUS	Pneumothorax	BEFREE	19645055		★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	BEFREE	26879377		★☆☆☆☆ Found in Text Mining only
Posteriorly rotated ear	Posteriorly Rotated Ear	HPO_DG			★☆☆☆☆ Found in Text Mining only
Postsynaptic congenital myasthenic syndromes	Myasthenic Syndrome	Orphanet			★☆☆☆☆ Found in Text Mining only
Progressive supranuclear palsy	Progressive Supranuclear Palsy	BEFREE	19645055		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	27197070		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	33290408, 40430008	Associate	★☆☆☆☆ Found in Text Mining only
Pterygium	Pterygium	HPO_DG			★☆☆☆☆ 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, unspecified	Scoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	29491470		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	29491470	Associate	★☆☆☆☆ Found in Text Mining only
Vascular System Injuries	Vascular system injury	Pubtator	18842780	Associate	★☆☆☆☆ Found in Text Mining only