Myasthenic Syndrome, Congenital, 14 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: MYS078 MIFTS: 40	Myasthenic Syndrome, Congenital, 14 Categories: Genetic diseases, Neuronal diseases, Eye diseases, Rare diseases
Genes Variations Related diseases Pathways Symptoms & Phenotypes Download Expand all tables

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Aliases & Classifications for Myasthenic Syndrome, Congenital, 14

MalaCards integrated aliases for Myasthenic Syndrome, Congenital, 14:

Name: Myasthenic Syndrome, Congenital, 14 ⁵⁷ ⁷⁵ ²⁹ ⁶

Cmsta3 ⁵⁷ ¹² ⁷⁵

Cms14 ⁵⁷ ¹² ⁷⁵

Myasthenic Syndrome, Congenital, 14, with Tubular Aggregates ⁵⁷ ⁷⁵

Myasthenic Syndrome, Congenital, with Tubular Aggregates 3 ⁵⁷ ⁷³

Congenital Myasthenic Syndrome 14 ¹² ¹⁵

Myasthenic Syndrome, Congenital, with Tubular Aggregates 3; Cmsta3 ⁵⁷

Myasthenic Syndrome, Congenital, Type 14, with Tubular Aggregates ⁴⁰

Myasthenic Syndrome, Congenital, with Tubular Aggregates, 3 ⁷⁵

Congenital Myasthenic Syndrome 14, with Tubular Aggregates ¹²

Congenital Myasthenic Syndrome with Tubular Aggregates 3 ¹²

Characteristics:

OMIM:

⁵⁷

Inheritance:
autosomal recessive

Miscellaneous:
slowly progressive
onset in first decade
some patients may become wheelchair-bound
favorable response to anticholinesterase medication
three unrelated families have been reported (last curated february 2015)

HPO:

³²

myasthenic syndrome, congenital, 14:
Onset and clinical course slow progression
Inheritance autosomal recessive inheritance

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Neuronal diseases Eye diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁷ 616228

Disease Ontology ¹² DOID:0110669

MedGen ⁴² C4015597 CN226296

MeSH ⁴⁴ D020294

UMLS ⁷³ C4015597

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Summaries for Myasthenic Syndrome, Congenital, 14

UniProtKB/Swiss-Prot : ⁷⁵ Myasthenic syndrome, congenital, 14: A form of congenital myasthenic syndrome, a group of disorders characterized by failure of neuromuscular transmission, including pre- synaptic, synaptic, and post-synaptic disorders that are not of autoimmune origin. Clinical features are easy fatigability and muscle weakness. CMS14 is an autosomal recessive form characterized by onset of limb-girdle muscle weakness in early childhood. The disorder is slowly progressive, and some patients may become wheelchair-bound.

MalaCards based summary : Myasthenic Syndrome, Congenital, 14, also known as cmsta3, is related to primary mediastinal large b-cell lymphoma and spinal chordoma, and has symptoms including waddling gait An important gene associated with Myasthenic Syndrome, Congenital, 14 is ALG2 (ALG2, Alpha-1,3/1,6-Mannosyltransferase), and among its related pathways/superpathways are Innate Immune System and Regulation of IFNA signaling. Related phenotypes are high palate and scoliosis

Disease Ontology : ¹² A congenital myasthenic syndrome characterized by autosomal recessive inheritance of slowly progressive development of limb-girdle muscle weakness with onset in early childhood that has material basis in homozygous mutation in the ALG2 gene on chromosome 9q22.

OMIM : ⁵⁷ Congenital myasthenic syndrome-14 is an autosomal recessive neuromuscular disorder characterized by onset of limb-girdle muscle weakness in early childhood. The disorder is slowly progressive, and some patients may become wheelchair-bound. There is no respiratory or cardiac involvement. Treatment with anticholinesterase medication may be beneficial (summary by Cossins et al., 2013). For a discussion of genetic heterogeneity of CMS, see CMS1A (601462). (616228)

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Related Diseases for Myasthenic Syndrome, Congenital, 14

Diseases in the Congenital Myasthenic Syndrome family:

Myasthenic Syndrome, Congenital, 10	Myasthenic Syndrome, Congenital, 5
Myasthenic Syndrome, Congenital, 12	Myasthenic Syndrome, Congenital, 16
Myasthenic Syndrome, Congenital, 13	Myasthenic Syndrome, Congenital, 8
Myasthenic Syndrome, Congenital, 22	Myasthenic Syndrome, Congenital, 15
Myasthenic Syndrome, Congenital, 14	Myasthenic Syndrome, Congenital, 17
Myasthenic Syndrome, Congenital, 18	Myasthenic Syndrome, Congenital, 19

Diseases related to Myasthenic Syndrome, Congenital, 14 via text searches within MalaCards or GeneCards Suite gene sharing:

#	Related Disease	Score	Top Affiliating Genes
1	primary mediastinal large b-cell lymphoma	9.8	CD274 JAK2
2	spinal chordoma	9.8	CD274 PIK3CA
3	mediastinal malignant lymphoma	9.8	CD274 PDCD1LG2
4	hemimegalencephaly	9.6	MYC PIK3CA
5	esophagus adenocarcinoma	9.6	MYC PIK3CA
6	female reproductive organ cancer	9.3	MYC PIK3CA
7	bile duct carcinoma	9.1	MYC PIK3CA
8	respiratory system cancer	9.0	CD274 MYC PIK3CA
9	epstein-barr virus-associated gastric carcinoma	8.7	CD274 JAK2 PDCD1LG2 PIK3CA

Graphical network of the top 20 diseases related to Myasthenic Syndrome, Congenital, 14:

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Symptoms & Phenotypes for Myasthenic Syndrome, Congenital, 14

Symptoms via clinical synopsis from OMIM:

⁵⁷

Neurologic Central Nervous System:
waddling gait
delayed motor development (in some patients)
learning difficulties, mild (1 family)

Skeletal:
joint contractures (in some patients)
distal joint laxity (in some patients)

Muscle Soft Tissue:
gower sign
muscle weakness, proximal greater than distal
muscle biopsy shows type 1 fiber predominance
hypotonia (in some patients)
limb-girdle muscle weakness
more

Skeletal Feet:
pes planus (in some patients)

Skeletal Spine:
scoliosis (in some patients)
lordosis (in some patients)

Head And Neck Mouth:
high-arched palate (in some patients)

Chest Ribs Sternum Clavicles And Scapulae:
scapular winging (in some patients)

Laboratory Abnormalities:
mildly increased serum creatine kinase (in some patients)
serum transferrin shows normal or mild hypo-glycosylation

Clinical features from OMIM:

616228

Human phenotypes related to Myasthenic Syndrome, Congenital, 14:

³² (show all 14)

#	Description	HPO Frequency	HPO Source Accession
1	high palate ³²	occasional (7.5%)	HP:0000218
2	scoliosis ³²	occasional (7.5%)	HP:0002650
3	hyperlordosis ³²	occasional (7.5%)	HP:0003307
4	pes planus ³²	occasional (7.5%)	HP:0001763
5	flexion contracture ³²	occasional (7.5%)	HP:0001371
6	scapular winging ³²	occasional (7.5%)	HP:0003691
7	ragged-red muscle fibers ³²	occasional (7.5%)	HP:0003200
8	mildly elevated creatine phosphokinase ³²	occasional (7.5%)	HP:0008180
9	motor delay ³²	occasional (7.5%)	HP:0001270
10	fatigable weakness ³²		HP:0003473
11	generalized hypotonia ³²	occasional (7.5%)	HP:0001290
12	waddling gait ³²		HP:0002515
13	gowers sign ³²		HP:0003391
14	limb-girdle muscle weakness ³²		HP:0003325

UMLS symptoms related to Myasthenic Syndrome, Congenital, 14:

waddling gait

MGI Mouse Phenotypes related to Myasthenic Syndrome, Congenital, 14:

⁴⁶

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	homeostasis/metabolism	MP:0005376	9.8	ALG2 CD274 JAK2 MYC PDCD1LG2 PIK3CA
2	immune system	MP:0005387	9.63	CD274 JAK2 MYC PDCD1LG2 PIK3CA PPP3CA
3	mortality/aging	MP:0010768	9.5	ALG2 CD274 JAK2 MYC PDCD1LG2 PIK3CA
4	neoplasm	MP:0002006	8.92	PIK3CA JAK2 MYC PDCD1LG2

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Drugs & Therapeutics for Myasthenic Syndrome, Congenital, 14

Search Clinical Trials , NIH Clinical Center for Myasthenic Syndrome, Congenital, 14

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Genetic Tests for Myasthenic Syndrome, Congenital, 14

Genetic tests related to Myasthenic Syndrome, Congenital, 14:

#	Genetic test	Affiliating Genes
1	Myasthenic Syndrome, Congenital, 14 ²⁹	ALG2

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Anatomical Context for Myasthenic Syndrome, Congenital, 14

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Publications for Myasthenic Syndrome, Congenital, 14

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Genes for Myasthenic Syndrome, Congenital, 14

Genes related to Myasthenic Syndrome, Congenital, 14 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	ALG2	ALG2, Alpha-1,3/1,6-Mannosyltransferase	Protein Coding	1328.85	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative variation ⁷⁵ Genetic Tests ²⁹ GeneCards inferred via : Disorders Variants (show sections)	23404334 24461433 20301347
2	PPP3CA	Protein Phosphatase 3 Catalytic Subunit Alpha	Protein Coding	15.53	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
3	PIK3CA	Phosphatidylinositol-4,5-Bisphosphate 3-Kinase Catalytic Subunit Alpha	Protein Coding	14.42	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
4	CD274	CD274 Molecule	Protein Coding	14.2	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
5	JAK2	Janus Kinase 2	Protein Coding	14.02	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
6	MYC	MYC Proto-Oncogene, BHLH Transcription Factor	Protein Coding	13.53	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
7	SEC61B	Sec61 Translocon Beta Subunit	Protein Coding	8.85	GeneCards inferred via : Variants (show sections)
8	PDCD1LG2	Programmed Cell Death 1 Ligand 2	Protein Coding	5.46	DISEASES inferred ¹⁵

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Variations for Myasthenic Syndrome, Congenital, 14

UniProtKB/Swiss-Prot genetic disease variations for Myasthenic Syndrome, Congenital, 14:

⁷⁵

#	Symbol	AA change	Variation ID	SNP ID
1	ALG2	p.Val68Gly	VAR_073332	rs730882051

ClinVar genetic disease variations for Myasthenic Syndrome, Congenital, 14:

⁶

(show all 46)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	ALG2	NM_033087.3(ALG2): c.17G> C (p.Gly6Ala)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs180849348	GRCh37	Chromosome 9, 101984160: 101984160
2	ALG2	NM_033087.3(ALG2): c.17G> C (p.Gly6Ala)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs180849348	GRCh38	Chromosome 9, 99221878: 99221878
3	ALG2	NM_033087.3(ALG2): c.214_224delGGGGACTGGCTinsAGTCCCCG (p.Gly72_Leu75delinsSerProArg)	indel	Pathogenic	rs730882123	GRCh37	Chromosome 9, 101983953: 101983963
4	ALG2	NM_033087.3(ALG2): c.214_224delGGGGACTGGCTinsAGTCCCCG (p.Gly72_Leu75delinsSerProArg)	indel	Pathogenic	rs730882123	GRCh38	Chromosome 9, 99221671: 99221681
5	ALG2	NM_033087.3(ALG2): c.203T> G (p.Val68Gly)	single nucleotide variant	Pathogenic	rs730882051	GRCh37	Chromosome 9, 101983974: 101983974
6	ALG2	NM_033087.3(ALG2): c.203T> G (p.Val68Gly)	single nucleotide variant	Pathogenic	rs730882051	GRCh38	Chromosome 9, 99221692: 99221692
7	ALG2	NM_033087.3(ALG2): c.84C> G (p.Gly28=)	single nucleotide variant	Benign/Likely benign	rs61744789	GRCh37	Chromosome 9, 101984093: 101984093
8	ALG2	NM_033087.3(ALG2): c.84C> G (p.Gly28=)	single nucleotide variant	Benign/Likely benign	rs61744789	GRCh38	Chromosome 9, 99221811: 99221811
9	ALG2	NM_033087.3(ALG2): c.30C> G (p.Asp10Glu)	single nucleotide variant	Benign/Likely benign	rs7023652	GRCh37	Chromosome 9, 101984147: 101984147
10	ALG2	NM_033087.3(ALG2): c.30C> G (p.Asp10Glu)	single nucleotide variant	Benign/Likely benign	rs7023652	GRCh38	Chromosome 9, 99221865: 99221865
11	ALG2	NM_033087.3(ALG2): c.129C> G (p.Arg43=)	single nucleotide variant	Benign/Likely benign	rs35055733	GRCh37	Chromosome 9, 101984048: 101984048
12	ALG2	NM_033087.3(ALG2): c.129C> G (p.Arg43=)	single nucleotide variant	Benign/Likely benign	rs35055733	GRCh38	Chromosome 9, 99221766: 99221766
13	ALG2	NM_033087.3(ALG2): c.1132C> T (p.Arg378Cys)	single nucleotide variant	Uncertain significance	rs56393253	GRCh37	Chromosome 9, 101980335: 101980335
14	ALG2	NM_033087.3(ALG2): c.1132C> T (p.Arg378Cys)	single nucleotide variant	Uncertain significance	rs56393253	GRCh38	Chromosome 9, 99218053: 99218053
15	ALG2	NM_033087.3(ALG2): c.1174G> A (p.Ala392Thr)	single nucleotide variant	Uncertain significance	rs138258236	GRCh38	Chromosome 9, 99218011: 99218011
16	ALG2	NM_033087.3(ALG2): c.1174G> A (p.Ala392Thr)	single nucleotide variant	Uncertain significance	rs138258236	GRCh37	Chromosome 9, 101980293: 101980293
17	ALG2	NM_033087.3(ALG2): c.159C> T (p.His53=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs527683080	GRCh37	Chromosome 9, 101984018: 101984018
18	ALG2	NM_033087.3(ALG2): c.159C> T (p.His53=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs527683080	GRCh38	Chromosome 9, 99221736: 99221736
19	ALG2	NM_033087.3(ALG2): c.304C> T (p.Leu102=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs749236548	GRCh37	Chromosome 9, 101983873: 101983873
20	ALG2	NM_033087.3(ALG2): c.304C> T (p.Leu102=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs749236548	GRCh38	Chromosome 9, 99221591: 99221591
21	ALG2	NM_033087.3(ALG2): c.288C> T (p.Phe96=)	single nucleotide variant	Benign/Likely benign	rs542863968	GRCh38	Chromosome 9, 99221607: 99221607
22	ALG2	NM_033087.3(ALG2): c.288C> T (p.Phe96=)	single nucleotide variant	Benign/Likely benign	rs542863968	GRCh37	Chromosome 9, 101983889: 101983889
23	ALG2	NM_033087.3(ALG2): c.167C> T (p.Pro56Leu)	single nucleotide variant	Benign	rs201959100	GRCh37	Chromosome 9, 101984010: 101984010
24	ALG2	NM_033087.3(ALG2): c.167C> T (p.Pro56Leu)	single nucleotide variant	Benign	rs201959100	GRCh38	Chromosome 9, 99221728: 99221728
25	ALG2	NM_033087.3(ALG2): c.1055_1056delCCinsTGA (p.Ser352Leufs)	indel	Uncertain significance		GRCh37	Chromosome 9, 101980411: 101980412
26	ALG2	NM_033087.3(ALG2): c.1055_1056delCCinsTGA (p.Ser352Leufs)	indel	Uncertain significance		GRCh38	Chromosome 9, 99218129: 99218130
27	ALG2	NM_033087.3(ALG2): c.443A> G (p.Asp148Gly)	single nucleotide variant	Uncertain significance	rs369670496	GRCh37	Chromosome 9, 101981024: 101981024
28	ALG2	NM_033087.3(ALG2): c.443A> G (p.Asp148Gly)	single nucleotide variant	Uncertain significance	rs369670496	GRCh38	Chromosome 9, 99218742: 99218742
29	ALG2	NM_033087.3(ALG2): c.729A> T (p.Ala243=)	single nucleotide variant	Likely benign	rs748947069	GRCh37	Chromosome 9, 101980738: 101980738
30	ALG2	NM_033087.3(ALG2): c.729A> T (p.Ala243=)	single nucleotide variant	Likely benign	rs748947069	GRCh38	Chromosome 9, 99218456: 99218456
31	ALG2	NM_033087.3(ALG2): c.348+6G> A	single nucleotide variant	Uncertain significance	rs368075764	GRCh37	Chromosome 9, 101983823: 101983823
32	ALG2	NM_033087.3(ALG2): c.348+6G> A	single nucleotide variant	Uncertain significance	rs368075764	GRCh38	Chromosome 9, 99221541: 99221541
33	ALG2	NM_033087.3(ALG2): c.44C> A (p.Pro15Gln)	single nucleotide variant	Uncertain significance	rs757920586	GRCh38	Chromosome 9, 99221851: 99221851
34	ALG2	NM_033087.3(ALG2): c.44C> A (p.Pro15Gln)	single nucleotide variant	Uncertain significance	rs757920586	GRCh37	Chromosome 9, 101984133: 101984133
35	ALG2	NM_033087.3(ALG2): c.219C> G (p.Asp73Glu)	single nucleotide variant	Uncertain significance	rs755705607	GRCh37	Chromosome 9, 101983958: 101983958
36	ALG2	NM_033087.3(ALG2): c.219C> G (p.Asp73Glu)	single nucleotide variant	Uncertain significance	rs755705607	GRCh38	Chromosome 9, 99221676: 99221676
37	ALG2	NM_033087.3(ALG2): c.10G> A (p.Glu4Lys)	single nucleotide variant	Uncertain significance		GRCh38	Chromosome 9, 99221885: 99221885
38	ALG2	NM_033087.3(ALG2): c.10G> A (p.Glu4Lys)	single nucleotide variant	Uncertain significance		GRCh37	Chromosome 9, 101984167: 101984167
39	ALG2	NM_033087.3(ALG2): c.399C> G (p.Ile133Met)	single nucleotide variant	Uncertain significance	rs371772900	GRCh37	Chromosome 9, 101981068: 101981068
40	ALG2	NM_033087.3(ALG2): c.399C> G (p.Ile133Met)	single nucleotide variant	Uncertain significance	rs371772900	GRCh38	Chromosome 9, 99218786: 99218786
41	ALG2	NM_033087.3(ALG2): c.339G> A (p.Val113=)	single nucleotide variant	Likely benign		GRCh38	Chromosome 9, 99221556: 99221556
42	ALG2	NM_033087.3(ALG2): c.339G> A (p.Val113=)	single nucleotide variant	Likely benign		GRCh37	Chromosome 9, 101983838: 101983838
43	ALG2	NM_033087.3(ALG2): c.1200T> C (p.Pro400=)	single nucleotide variant	Likely benign	rs764916897	GRCh37	Chromosome 9, 101980267: 101980267
44	ALG2	NM_033087.3(ALG2): c.1200T> C (p.Pro400=)	single nucleotide variant	Likely benign	rs764916897	GRCh38	Chromosome 9, 99217985: 99217985
45	ALG2	NM_033087.3(ALG2): c.92G> C (p.Arg31Pro)	single nucleotide variant	Uncertain significance		GRCh37	Chromosome 9, 101984085: 101984085
46	ALG2	NM_033087.3(ALG2): c.92G> C (p.Arg31Pro)	single nucleotide variant	Uncertain significance		GRCh38	Chromosome 9, 99221803: 99221803

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Expression for Myasthenic Syndrome, Congenital, 14

Search GEO for disease gene expression data for Myasthenic Syndrome, Congenital, 14.

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Pathways for Myasthenic Syndrome, Congenital, 14

Pathways related to Myasthenic Syndrome, Congenital, 14 according to GeneCards Suite gene sharing:

(show all 29)

#	Super pathways	Score	Top Affiliating Genes
1	Innate Immune System ⁶⁶ Show member pathways Immune System ⁶⁶ Neutrophil degranulation ⁶⁶	13.62	CD274 JAK2 MYC PDCD1LG2 PIK3CA PPP3CA
2	Regulation of IFNA signaling ⁶⁶ Show member pathways Cytokine Network ⁶⁴ Immune response IFN alpha/beta signaling pathway ²² Interferon alpha/beta signaling ⁶⁶ Interleukin-19, 20, 22, 24 ⁶⁶ Jak/STAT Signaling Pathway ⁶⁵ Jak-STAT signaling pathway ³⁷	12.34	JAK2 MYC PIK3CA
3	Immune response IL-23 signaling pathway ²² Show member pathways Angiopoietin receptor Tie2-mediated signaling ¹ Angiopoietin-TIE2 Signaling ⁶⁴ Development Angiopoietin - Tie2 signaling ²² Development PDGF signaling via STATs and NF-kB ²² IL23-mediated signaling events ¹ Immune response IL-10 signaling pathway ²² Rac1/Pak1/p38/MMP-2 pathway ¹	12.32	JAK2 MYC PIK3CA
4	Development Dopamine D2 receptor transactivation of EGFR ²² Show member pathways Apoptosis and survival BAD phosphorylation ²² BAD Phosphorylation ⁶⁴ Chemotaxis CXCR4 signaling pathway ²² Development Alpha-2 adrenergic receptor activation of ERK ²²	12.29	JAK2 PIK3CA PPP3CA
5	Development EGFR signaling pathway ²² Show member pathways Development ERBB-family signaling ²² EGF Pathway ⁶⁴ EGFR Signaling Pathway ⁶⁷ ErbB receptor signaling network ¹	12.25	JAK2 MYC PIK3CA
6	Prolactin Signaling Pathway ¹ ³⁷ Show member pathways Development Prolactin receptor signaling ²² Leptin signaling pathway ¹	12.18	JAK2 MYC PIK3CA
7	Kaposi's sarcoma-associated herpesvirus infection ³⁷ Show member pathways Hepatitis B ³⁷	12.14	JAK2 MYC PIK3CA PPP3CA
8	HTLV-I infection ³⁷	12.12	MYC PIK3CA PPP3CA
9	Development VEGF signaling via VEGFR2 - generic cascades ²² Show member pathways Development VEGF signaling and activation ²² VEGF - VEGF R2 Signaling Pathways ⁶⁵	12.09	JAK2 PIK3CA PPP3CA
10	NF-kappaB Signaling ⁴	12.07	CD274 JAK2 PDCD1LG2 PPP3CA
11	B cell receptor signaling pathway (KEGG) ³⁷ Show member pathways B Cell Receptor Signaling Pathway ¹ BCR signaling pathway ¹	12.06	MYC PIK3CA PPP3CA
12	CD28 co-stimulation ⁶⁶ Show member pathways Activation of AKT2 ⁶⁶ CD28 dependent PI3K/Akt signaling ⁶⁶ CD28 dependent Vav1 pathway ⁶⁶ Costimulation by the CD28 family ⁶⁶ VEGFR2 mediated vascular permeability ⁶⁶	11.91	CD274 PDCD1LG2 PIK3CA
13	Cellular senescence (KEGG) ³⁷	11.84	MYC PIK3CA PPP3CA
14	Immune response IFN gamma signaling pathway ²² Show member pathways IFN-gamma pathway ¹	11.82	JAK2 MYC PIK3CA
15	Signaling pathways regulating pluripotency of stem cells ³⁷	11.75	JAK2 MYC PIK3CA
16	IL-2 Signaling Pathway ¹ Show member pathways IL2-mediated signaling events ¹ IL-5 Signaling Pathway ¹	11.71	JAK2 MYC PIK3CA
17	IL6-mediated signaling events ¹ Show member pathways IL-6 signaling pathway ¹	11.48	JAK2 MYC PIK3CA
18	IL2 signaling events mediated by PI3K ¹ Show member pathways IL2 signaling events mediated by STAT5 ¹	11.47	MYC PIK3CA
19	Pathways Affected in Adenoid Cystic Carcinoma ¹	11.46	MYC PIK3CA
20	Central carbon metabolism in cancer ³⁷	11.44	MYC PIK3CA
21	IL4-mediated signaling events ¹	11.42	JAK2 PIK3CA
22	T Cell Co-Signaling Pathway: Ligand-Receptor Interactions ⁶⁵	11.38	CD274 PDCD1LG2
23	PDGFR-beta signaling pathway ¹	11.34	MYC PIK3CA
24	Development_Leptin signaling via PI3K-dependent pathway ²²	11.3	JAK2 PIK3CA
25	Signaling events mediated by PTP1B ¹	11.27	JAK2 PIK3CA
26	Paxillin-dependent events mediated by a4b1 ¹ Show member pathways a4b1 and a4b7 Integrin signaling ¹ Paxillin-independent events mediated by a4b1 and a4b7 ¹	11.2	JAK2 PIK3CA
27	Human Thyroid Stimulating Hormone (TSH) signaling pathway ¹	11.16	JAK2 MYC PIK3CA
28	Immune response IL-2 activation and signaling pathway ²² Show member pathways Immune response IL-3 activation and signaling pathway ²²	10.95	JAK2 MYC PIK3CA PPP3CA
29	Thymic Stromal LymphoPoietin (TSLP) Signaling Pathway ¹	10.8	JAK2 MYC PIK3CA

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GO Terms for Myasthenic Syndrome, Congenital, 14

Cellular components related to Myasthenic Syndrome, Congenital, 14 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	membrane	GO:0016020	9.56	ALG2 CD274 JAK2 MYC PDCD1LG2 PIK3CA
2	endomembrane system	GO:0012505	8.8	CD274 JAK2 PDCD1LG2

Biological processes related to Myasthenic Syndrome, Congenital, 14 according to GeneCards Suite gene sharing:

(show all 12)

#	Name	GO ID	Score	Top Affiliating Genes
1	cytokine-mediated signaling pathway	GO:0019221	9.58	JAK2 MYC PIK3CA
2	cellular response to drug	GO:0035690	9.51	MYC PPP3CA
3	glucose metabolic process	GO:0006006	9.49	MYC PIK3CA
4	positive regulation of T cell proliferation	GO:0042102	9.48	CD274 PDCD1LG2
5	cellular response to glucose stimulus	GO:0071333	9.46	PIK3CA PPP3CA
6	response to calcium ion	GO:0051592	9.43	ALG2 PPP3CA
7	negative regulation of T cell proliferation	GO:0042130	9.37	CD274 PDCD1LG2
8	positive regulation of DNA binding	GO:0043388	9.32	JAK2 MYC
9	negative regulation of interferon-gamma production	GO:0032689	9.26	CD274 PDCD1LG2
10	negative regulation of interleukin-10 production	GO:0032693	9.16	CD274 PDCD1LG2
11	negative regulation of activated T cell proliferation	GO:0046007	8.96	CD274 PDCD1LG2
12	T cell costimulation	GO:0031295	8.8	CD274 PDCD1LG2 PIK3CA

Molecular functions related to Myasthenic Syndrome, Congenital, 14 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	insulin receptor substrate binding	GO:0043560	8.62	JAK2 PIK3CA

Sources

Sources for Myasthenic Syndrome, Congenital, 14

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ ExPASy

¹⁸ FDA Approved Drugs

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HGMD

³¹ HMDB

³² HPO

³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

³⁹ LncRNADisease

⁴⁰ LOVD

⁴¹ MalaCards

⁴² MedGen

⁴³ MedlinePlus

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NIH Rare Diseases

⁵⁴ NINDS

⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

⁶⁰ PathCards

⁶¹ PharmGKB

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ SNOMED-CT via Orphanet

⁷¹ TGDB

⁷² Tocris

⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia