Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2g disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2g

MalaCards integrated aliases for Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2g:

Name: Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2g ¹² ²⁹ ⁶ ¹⁵

Limb-Girdle Muscular Dystrophy Due to Telethonin Deficiency ¹²

Muscular Dystrophy, Limb-Girdle, Type 2g ¹²

Lgmd2g ¹²

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases
Anatomical: Muscle diseases Neuronal diseases

See all MalaCards categories (disease lists)

ICD10: ³²

Diseases of the nervous system

Diseases of myoneural junction and muscle

Primary disorders of muscles

Muscular dystrophy

External Ids:

Disease Ontology ¹² DOID:0110281

ICD10 ³² G71.0

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Summaries for Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2g

Disease Ontology : ¹² An autosomal recessive limb-girdle muscular dystrophy that has material basis in mutation in the gene encoding telethonin (TCAP).

MalaCards based summary : Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2g, also known as limb-girdle muscular dystrophy due to telethonin deficiency, is related to muscular dystrophy, limb-girdle, autosomal recessive 7 and muscular dystrophy, duchenne type. An important gene associated with Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2g is TCAP (Titin-Cap), and among its related pathways/superpathways are Cardiac conduction and Arrhythmogenic right ventricular cardiomyopathy (ARVC). Related phenotypes are behavior/neurological and cardiovascular system

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Related Diseases for Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2g

Diseases in the Limb-Girdle Muscular Dystrophy family:

Diseases related to Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2g via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 105)

#	Related Disease	Score	Top Affiliating Genes
1	muscular dystrophy, limb-girdle, autosomal recessive 7	31.6	TTN TRIM32 TCAP MYOT FKRP DYSF
2	muscular dystrophy, duchenne type	29.4	TTN TCAP SGCD SGCA CAV3
3	muscular dystrophy, limb-girdle, autosomal recessive 8	29.3	TTN TRIM32 TCAP FKRP DYSF CAPN3
4	muscular dystrophy, limb-girdle, autosomal recessive 6	28.1	TTN TRIM32 TCAP SGCG SGCD SGCA
5	limb-girdle muscular dystrophy	27.7	TTN TRIM32 TCAP SGCG SGCD SGCA
6	autosomal recessive limb-girdle muscular dystrophy	26.0	TTN TRIM32 TCAP SGCG SGCD SGCA
7	muscular dystrophy, limb-girdle, autosomal recessive 2	26.0	TTN TRIM32 TCAP SGCG SGCD SGCA
8	muscular dystrophy	25.7	TTN TRIM32 TCAP SGCG SGCD SGCA
9	myopathy	25.4	TTN TRIM32 TCAP SGCG SGCD SGCA
10	dysferlinopathy	10.4	DYSF CAPN3
11	muscular dystrophy-dystroglycanopathy , type c, 9	10.4	MYOT DYSF
12	myopathy, myofibrillar, 4	10.3	TCAP MYOT
13	paresthesia	10.3	FKRP CAPN3
14	autosomal recessive limb-girdle muscular dystrophy type 2w	10.3	MYOT ANO5
15	polyglucosan body myopathy 1 with or without immunodeficiency	10.3	FKRP CAPN3
16	muscular dystrophy, limb-girdle, type 1h	10.3	MYOT CAV3
17	reducing body myopathy 1a	10.2	TTN TCAP MYOT
18	hyaline body myopathy	10.2	TTN MYOT
19	familial isolated arrhythmogenic ventricular dysplasia, left dominant form	10.1	TTN LMNA
20	familial isolated arrhythmogenic ventricular dysplasia, biventricular form	10.1	TTN LMNA
21	familial isolated arrhythmogenic ventricular dysplasia, right dominant form	10.1	TTN LMNA
22	muscular dystrophy, limb-girdle, autosomal recessive 1	10.1
23	muscular dystrophy, limb-girdle, autosomal recessive 5	10.1
24	muscular dystrophy, limb-girdle, autosomal recessive 4	10.1
25	muscular dystrophy, limb-girdle, autosomal recessive 3	10.1
26	muscle hypertrophy	10.1
27	myopathy, x-linked, with postural muscle atrophy	10.1	MYOT LMNA
28	rippling muscle disease 2	10.1	FKRP DYSF CAV3
29	familial isolated dilated cardiomyopathy	10.1	TTN TCAP SGCD
30	muscular dystrophy, limb-girdle, autosomal dominant 3	10.1	MYOT CAV3 ANO5
31	centronuclear myopathy	10.1	TTN DYSF CAV3
32	myositis	10.0	TTN DYSF CAPN3
33	glycogen storage disease ii	10.0	FKRP CAV3 CAPN3
34	x-linked recessive disease	10.0	SGCG SGCA DYSF
35	myopathy, spheroid body	10.0	TRIM32 TCAP MYOT
36	myopathy, myofibrillar, 9, with early respiratory failure	10.0	TTN TCAP MYOT CAPN3
37	autosomal recessive limb-girdle muscular dystrophy type 2q	10.0	TCAP MYOT DYSF ANO5
38	cardiomyopathy, dilated, 1b	10.0	TTN LMNA
39	progressive muscular atrophy	10.0	CAV3 CAPN3
40	cardiomyopathy, dilated, 1a	9.9	MYOT LMNA
41	congenital muscular dystrophy without intellectual disability	9.9	POMT1 FKRP
42	congenital muscular dystrophy with intellectual disability	9.9	POMT1 FKRP
43	congenital muscular dystrophy with cerebellar involvement	9.9	POMT1 FKRP
44	congenital muscular dystrophy-dystroglycanopathy type a	9.9	POMT1 FKRP
45	congenital muscular dystrophy-dystroglycanopathy type a1	9.9	POMT1 FKRP
46	autosomal recessive limb-girdle muscular dystrophy type 2x	9.9	MYOT DYSF CAV3 ANO5
47	cardiomyopathy, dilated, 1g	9.9	TTN POMT1
48	creatine phosphokinase, elevated serum	9.9	TCAP CAV3 CAPN3 ANO5
49	congenital structural myopathy	9.8	TTN MYOT
50	cardiomyopathy, dilated, 1d	9.8	POMT1 FKRP

Graphical network of the top 20 diseases related to Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2g:

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Symptoms & Phenotypes for Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2g

MGI Mouse Phenotypes related to Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2g:

⁴⁵

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	behavior/neurological	MP:0005386	9.96	ANO5 DYSF FKRP LMNA POMT1 SGCD
2	cardiovascular system	MP:0005385	9.9	ANKRD2 CAPN3 CAV3 FKRP LMNA POMT1
3	homeostasis/metabolism	MP:0005376	9.73	ANO5 CAPN3 CAV3 DYSF FKRP LMNA
4	muscle	MP:0005369	9.47	ANKRD2 ANO5 CAPN3 CAV3 DYSF FKRP

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Drugs & Therapeutics for Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2g

Search Clinical Trials , NIH Clinical Center for Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2g

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Genetic Tests for Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2g

Genetic tests related to Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2g:

#	Genetic test	Affiliating Genes
1	Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2g ²⁹	TCAP

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Anatomical Context for Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2g

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Publications for Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2g

Articles related to Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2g:

#	Title	Authors	PMID	Year
1	Limb girdle muscular dystrophy 2G in a religious minority of Bulgarian Muslims homozygous for the c.75G>A, p.Trp25X mutation. ⁶¹	Chamova T...Tournev I	29935994	2018
2	Functional muscle analysis of the Tcap knockout mouse. ⁶¹	Markert CD...Childers MK	20233748	2010

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Genes for Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2g

Genes related to Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2g (1 elite genes):

(show all 15)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	TCAP	Titin-Cap	Protein Coding	518.77	Pathogenic ⁶ Genetic Tests ²⁹ DISEASES inferred ¹⁵ GeneCards inferred via : Variants (show sections)
2	DYSF	Dysferlin	Protein Coding	7.71	DISEASES inferred ¹⁵
3	MYOT	Myotilin	Protein Coding	7.63	DISEASES inferred ¹⁵
4	CAPN3	Calpain 3	Protein Coding	7.35	DISEASES inferred ¹⁵
5	TTN	Titin	Protein Coding	7.16	DISEASES inferred ¹⁵
6	SGCG	Sarcoglycan Gamma	Protein Coding	7.11	DISEASES inferred ¹⁵
7	FKRP	Fukutin Related Protein	Protein Coding	7.1	DISEASES inferred ¹⁵
8	ANO5	Anoctamin 5	Protein Coding	6.71	DISEASES inferred ¹⁵
9	SGCA	Sarcoglycan Alpha	Protein Coding	6.6	DISEASES inferred ¹⁵
10	CAV3	Caveolin 3	Protein Coding	6.46	DISEASES inferred ¹⁵
11	SGCD	Sarcoglycan Delta	Protein Coding	6.45	DISEASES inferred ¹⁵
12	TRIM32	Tripartite Motif Containing 32	Protein Coding	6.35	DISEASES inferred ¹⁵
13	ANKRD2	Ankyrin Repeat Domain 2	Protein Coding	6.35	DISEASES inferred ¹⁵
14	POMT1	Protein O-Mannosyltransferase 1	Protein Coding	6.05	DISEASES inferred ¹⁵
15	LMNA	Lamin A/C	Protein Coding	5.95	DISEASES inferred ¹⁵

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Variations for Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2g

ClinVar genetic disease variations for Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2g:

⁶ (show all 28) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	TCAP	NM_003673.3(TCAP):c.110_110+1del	deletion	Pathogenic	5526	rs786205076	17:37821720-37821721	17:39665467-39665468
2	TCAP	NM_003673.4(TCAP):c.157C>T (p.Gln53Ter)	SNV	Likely pathogenic	5525	rs104894655	17:37822015-37822015	17:39665762-39665762
3	TCAP	NM_003673.3(TCAP):c.34dup (p.Glu12fs)	duplication	Likely pathogenic	522598	rs1555606959	17:37821644-37821645	17:39665391-39665392
4	TCAP	NM_003673.4(TCAP):c.75G>A (p.Trp25Ter)	SNV	Likely pathogenic	813977		17:37821687-37821687	17:39665434-39665434
5	TCAP	NM_003673.3(TCAP):c.32C>A (p.Ser11Ter)	SNV	Likely pathogenic	140582	rs45495192	17:37821644-37821644	17:39665391-39665391
6	TCAP	NM_003673.3(TCAP):c.25_31dup (p.Ser11Ter)	duplication	Likely pathogenic	217014	rs863224933	17:37821636-37821637	17:39665383-39665384
7	TCAP	NM_003673.4(TCAP):c.32C>T (p.Ser11Leu)	SNV	Conflicting interpretations of pathogenicity	177939	rs45495192	17:37821644-37821644	17:39665391-39665391
8	TCAP	NM_003673.4(TCAP):c.313G>C (p.Glu105Gln)	SNV	Conflicting interpretations of pathogenicity	191776	rs146906267	17:37822171-37822171	17:39665918-39665918
9	TCAP	NM_003673.4(TCAP):c.458G>A (p.Arg153His)	SNV	Conflicting interpretations of pathogenicity	44710	rs149585781	17:37822316-37822316	17:39666063-39666063
10	TCAP	NM_003673.4(TCAP):c.60C>G (p.Ala20=)	SNV	Conflicting interpretations of pathogenicity	44714	rs146502276	17:37821672-37821672	17:39665419-39665419
11	TCAP	NM_003673.4(TCAP):c.*54G>A	SNV	Conflicting interpretations of pathogenicity	889706		17:37822416-37822416	17:39666163-39666163
12	TCAP	NM_003673.3(TCAP):c.282C>T (p.Phe94=)	SNV	Conflicting interpretations of pathogenicity	464947	rs749565002	17:37822140-37822140	17:39665887-39665887
13	TCAP	NM_003673.4(TCAP):c.*128G>A	SNV	Uncertain significance	889707		17:37822490-37822490	17:39666237-39666237
14	TCAP	NM_003673.4(TCAP):c.*199G>T	SNV	Uncertain significance	889708		17:37822561-37822561	17:39666308-39666308
15	TCAP	NM_003673.4(TCAP):c.*395C>T	SNV	Uncertain significance	891260		17:37822757-37822757	17:39666504-39666504
16	TCAP	NM_003673.4(TCAP):c.*418C>T	SNV	Uncertain significance	892449		17:37822780-37822780	17:39666527-39666527
17	TCAP	NM_003673.4(TCAP):c.388C>T (p.Arg130Cys)	SNV	Uncertain significance	44708	rs374886575	17:37822246-37822246	17:39665993-39665993
18	TCAP	NM_003673.3(TCAP):c.113G>T (p.Cys38Phe)	SNV	Uncertain significance	202108	rs375310569	17:37821971-37821971	17:39665718-39665718
19	TCAP	NM_003673.3(TCAP):c.421C>G (p.Pro141Ala)	SNV	Uncertain significance	180535	rs45509691	17:37822279-37822279	17:39666026-39666026
20	TCAP	NM_003673.3(TCAP):c.313G>A (p.Glu105Lys)	SNV	Uncertain significance	288969	rs146906267	17:37822171-37822171	17:39665918-39665918
21	TCAP	NM_003673.3(TCAP):c.111-13C>A	SNV	Uncertain significance	323045	rs773913117	17:37821956-37821956	17:39665703-39665703
22	TCAP	NM_003673.3(TCAP):c.111-13C>T	SNV	Uncertain significance	323046	rs773913117	17:37821956-37821956	17:39665703-39665703
23	TCAP	NM_003673.3(TCAP):c.*76G>T	SNV	Uncertain significance	323047	rs45506294	17:37822438-37822438	17:39666185-39666185
24	TCAP	NM_003673.3(TCAP):c.*292G>A	SNV	Uncertain significance	323048	rs185210946	17:37822654-37822654	17:39666401-39666401
25	TCAP	NM_003673.3(TCAP):c.*297C>T	SNV	Uncertain significance	323049	rs772638575	17:37822659-37822659	17:39666406-39666406
26	TCAP	NM_003673.3(TCAP):c.*377G>C	SNV	Benign/Likely benign	323050	rs3194794	17:37822739-37822739	17:39666486-39666486
27	TCAP	NM_003673.4(TCAP):c.453A>C (p.Ala151=)	SNV	Benign/Likely benign	44709	rs1053651	17:37822311-37822311	17:39666058-39666058
28	TCAP	NM_003673.4(TCAP):c.316C>T (p.Arg106Cys)	SNV	Benign/Likely benign	44706	rs45578741	17:37822174-37822174	17:39665921-39665921

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Expression for Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2g

Search GEO for disease gene expression data for Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2g.

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Pathways for Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2g

Pathways related to Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2g according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Cardiac conduction ⁶⁵ Show member pathways Classical Kir channels ⁶⁵ Ion homeostasis ⁶⁵ Ion transport by P-type ATPases ⁶⁵ Muscle contraction ⁶⁵ Phase 1 - inactivation of fast Na+ channels ⁶⁵ Phase 3 - rapid repolarisation ⁶⁵ Phase 4 - resting membrane potential ⁶⁵ Physiological factors ⁶⁵ Tandem of pore domain in a weak inwardly rectifying K+ channels (TWIK) ⁶⁵ Tandem pore domain halothane-inhibited K+ channel (THIK) ⁶⁵ Tandem pore domain potassium channels ⁶⁵ TWIK related potassium channel (TREK) ⁶⁵ TWIK-related alkaline pH activated K+ channel (TALK) ⁶⁵ TWIK-related spinal cord K+ channel (TRESK) ⁶⁵ TWIK-releated acid-sensitive K+ channel (TASK) ⁶⁵	12.29	TTN TCAP DYSF CAV3
2	Arrhythmogenic right ventricular cardiomyopathy (ARVC) ³⁶ Show member pathways Arrhythmogenic Right Ventricular Cardiomyopathy ¹	11.44	SGCG SGCD SGCA LMNA
3	Dilated cardiomyopathy (DCM) ³⁶ Show member pathways Hypertrophic cardiomyopathy (HCM) ³⁶	11.29	TTN SGCG SGCD SGCA LMNA
4	Smooth Muscle Contraction ⁶⁵	10.88	DYSF CAV3
5	Mannose type O-glycan biosynthesis ³⁶	10.52	POMT1 FKRP

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GO Terms for Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2g

Cellular components related to Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2g according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	cytoplasm	GO:0005737	10.2	TTN TRIM32 TCAP SGCG SGCD SGCA
2	Z disc	GO:0030018	9.65	TTN TCAP MYOT CAV3 CAPN3
3	sarcomere	GO:0030017	9.61	TTN TCAP ANKRD2
4	T-tubule	GO:0030315	9.58	DYSF CAV3 CAPN3
5	I band	GO:0031674	9.54	TTN TCAP ANKRD2
6	dystrophin-associated glycoprotein complex	GO:0016010	9.5	SGCD SGCA CAV3
7	sarcoglycan complex	GO:0016012	9.33	SGCG SGCD SGCA
8	sarcolemma	GO:0042383	9.17	SGCG SGCD SGCA MYOT FKRP DYSF
9	dystroglycan complex	GO:0016011	9.13	SGCG SGCD SGCA

Biological processes related to Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2g according to GeneCards Suite gene sharing:

(show all 22)

#	Name	GO ID	Score	Top Affiliating Genes
1	skeletal muscle tissue regeneration	GO:0043403	9.61	SGCA DYSF
2	cardiac muscle contraction	GO:0060048	9.61	TTN TCAP SGCD
3	plasma membrane organization	GO:0007009	9.6	DYSF CAV3
4	cardiac muscle tissue development	GO:0048738	9.59	SGCG SGCD
5	positive regulation of proteolysis	GO:0045862	9.58	TRIM32 CAPN3
6	protein O-linked mannosylation	GO:0035269	9.58	POMT1 FKRP
7	sarcomere organization	GO:0045214	9.58	TTN TCAP CAPN3
8	heart contraction	GO:0060047	9.57	SGCG SGCD
9	cardiac muscle tissue morphogenesis	GO:0055008	9.56	TTN TCAP
10	cardiac myofibril assembly	GO:0055003	9.55	TTN TCAP
11	plasma membrane repair	GO:0001778	9.54	DYSF CAV3
12	cardiac muscle hypertrophy	GO:0003300	9.52	TTN TCAP
13	regulation of calcium ion import	GO:0090279	9.51	DYSF CAV3
14	muscle cell cellular homeostasis	GO:0046716	9.5	TRIM32 CAV3 CAPN3
15	T-tubule organization	GO:0033292	9.49	DYSF CAV3
16	skeletal muscle thin filament assembly	GO:0030240	9.48	TTN TCAP
17	skeletal muscle myosin thick filament assembly	GO:0030241	9.46	TTN TCAP
18	cardiac muscle fiber development	GO:0048739	9.43	TTN TCAP SGCD
19	muscle contraction	GO:0006936	9.43	TTN SGCA MYOT DYSF CAV3 ANKRD2
20	sarcomerogenesis	GO:0048769	9.37	TTN TCAP
21	detection of muscle stretch	GO:0035995	9.33	TTN TCAP CAV3
22	muscle organ development	GO:0007517	9.1	SGCG SGCD SGCA CAV3 CAPN3 ANKRD2

Molecular functions related to Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2g according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	titin binding	GO:0031432	9.13	TCAP CAPN3 ANKRD2
2	structural constituent of muscle	GO:0008307	9.02	TTN TCAP MYOT CAPN3 ANKRD2

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Sources for Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2g

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