Calpain-3-Related Limb-Girdle Muscular Dystrophy R1 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: CLP009 MIFTS: 31	Calpain-3-Related Limb-Girdle Muscular Dystrophy R1 Categories: Muscle diseases, Neuronal diseases, Rare diseases
Genes Variations Related diseases Publications Symptoms & Phenotypes Expand all tables

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Aliases & Classifications for Calpain-3-Related Limb-Girdle Muscular Dystrophy R1

MalaCards integrated aliases for Calpain-3-Related Limb-Girdle Muscular Dystrophy R1:

Name: Calpain-3-Related Limb-Girdle Muscular Dystrophy R1 ⁵⁸

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2a ⁵⁸

Limb-Girdle Muscular Dystrophy Due to Calpain Deficiency ⁵⁸

Limb-Girdle Muscular Dystrophy Type 2a ⁵⁸

Calpain-3-Related Lgmd R1 ⁵⁸

Primary Calpainopathy ⁵⁸

Lgmd Type 2a ⁵⁸

Lgmd2a ⁵⁸

Characteristics:

Orphanet epidemiological data:

⁵⁸

calpain-3-related limb-girdle muscular dystrophy r1
Inheritance: Autosomal recessive; Prevalence: 1-9/100000 (Europe); Age of onset: Adolescent,Adult,Childhood; Age of death: normal life expectancy;

Classifications:

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

See all MalaCards categories (disease lists)

ICD10: ³³

Diseases of the nervous system

Diseases of myoneural junction and muscle

Primary disorders of muscles

Muscular dystrophy

Orphanet: ⁵⁸

Rare neurological diseases

External Ids:

ICD10 via Orphanet ³³ G71.0

UMLS via Orphanet ⁷² C1869123

Orphanet ⁵⁸ ORPHA267

SNOMED-CT via HPO ⁶⁸ 17211005 193225000 202271004 more

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Summaries for Calpain-3-Related Limb-Girdle Muscular Dystrophy R1

MalaCards based summary : Calpain-3-Related Limb-Girdle Muscular Dystrophy R1, also known as autosomal recessive limb-girdle muscular dystrophy type 2a, is related to muscular dystrophy, limb-girdle, autosomal recessive 1 and limb-girdle muscular dystrophy. An important gene associated with Calpain-3-Related Limb-Girdle Muscular Dystrophy R1 is CAPN3 (Calpain 3). Related phenotypes are generalized muscle weakness and elevated serum creatine kinase

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Related Diseases for Calpain-3-Related Limb-Girdle Muscular Dystrophy R1

Diseases in the Calpain-3-Related Limb-Girdle Muscular Dystrophy R1 family:

Calpain-3-Related Limb-Girdle Muscular Dystrophy D4

Diseases related to Calpain-3-Related Limb-Girdle Muscular Dystrophy R1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 40)

#	Related Disease	Score
1	muscular dystrophy, limb-girdle, autosomal recessive 1	12.4
2	limb-girdle muscular dystrophy	11.7
3	muscular dystrophy, limb-girdle, autosomal recessive 25	11.2
4	autosomal recessive limb-girdle muscular dystrophy type 2a	11.2
5	muscular dystrophy	10.8
6	cyanosis, transient neonatal	10.5
7	cardiac arrest	10.5
8	respiratory failure	10.5
9	neuromuscular disease	10.5
10	myopathy	10.4
11	atrial standstill 1	10.3
12	muscular dystrophy, becker type	10.3
13	sensory peripheral neuropathy	10.3
14	neuropathy	10.3
15	autosomal recessive disease	10.3
16	facioscapulohumeral muscular dystrophy 1	10.2
17	muscular dystrophy, limb-girdle, autosomal recessive 2	10.2
18	muscular dystrophy-dystroglycanopathy , type c, 5	10.2
19	autosomal recessive limb-girdle muscular dystrophy	10.2
20	muscular atrophy	10.2
21	progressive familial heart block, type ia	10.0
22	bethlem myopathy 1	10.0
23	facioscapulohumeral muscular dystrophy 2	10.0
24	muscular dystrophy, limb-girdle, autosomal recessive 5	10.0
25	muscular dystrophy, limb-girdle, autosomal recessive 8	10.0
26	muscular dystrophy, duchenne type	10.0
27	muscular dystrophy, limb-girdle, autosomal recessive 6	10.0
28	autoimmune lymphoproliferative syndrome	10.0
29	muscular dystrophy, limb-girdle, autosomal recessive 7	10.0
30	muscular dystrophy, limb-girdle, autosomal recessive 4	10.0
31	progressive familial heart block, type ib	10.0
32	myopathy, proximal, with ophthalmoplegia	10.0
33	muscular dystrophy, limb-girdle, autosomal recessive 3	10.0
34	muscle hypertrophy	10.0
35	miyoshi muscular dystrophy	10.0
36	emery-dreifuss muscular dystrophy	10.0
37	right bundle branch block	10.0
38	dysferlinopathy	10.0
39	cerebral atrophy	10.0
40	qualitative or quantitative defects of dysferlin	10.0

Graphical network of the top 20 diseases related to Calpain-3-Related Limb-Girdle Muscular Dystrophy R1:

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Symptoms & Phenotypes for Calpain-3-Related Limb-Girdle Muscular Dystrophy R1

Human phenotypes related to Calpain-3-Related Limb-Girdle Muscular Dystrophy R1:

⁵⁸ ³¹ (show all 21)

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	generalized muscle weakness ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0003324
2	elevated serum creatine kinase ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0003236
3	hyperlordosis ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0003307
4	elbow flexion contracture ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0002987
5	spinal rigidity ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0003306
6	scapular winging ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0003691
7	toe walking ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0040083
8	muscular dystrophy ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0003560
9	ankle flexion contracture ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0006466
10	congenital finger flexion contractures ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0005879
11	calf muscle hypertrophy ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0008981
12	proximal muscle weakness ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0003701
13	difficulty walking ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0002355
14	lower limb muscle weakness ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0007340
15	hamstring contractures ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0003089
16	pelvic girdle amyotrophy ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0008946
17	scapular muscle atrophy ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0009060
18	pectoralis amyotrophy ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0012037
19	wrist flexion contracture ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0001239
20	difficulty climbing stairs ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0003551
21	flexion contracture ⁵⁸		Frequent (79-30%)

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Drugs & Therapeutics for Calpain-3-Related Limb-Girdle Muscular Dystrophy R1

Interventional clinical trials:

#	Name	Status	NCT ID	Phase	Drugs
1	Natural History of Disease Progression in Individuals With Limb Girdle Muscular Dystrophy Type 2A and Type 2E	Recruiting	NCT03488784
2	Clinical Importance of Carrier Status of Recessive Gene Mutations in Myopathy	Active, not recruiting	NCT02897921

Search NIH Clinical Center for Calpain-3-Related Limb-Girdle Muscular Dystrophy R1

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Genetic Tests for Calpain-3-Related Limb-Girdle Muscular Dystrophy R1

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Anatomical Context for Calpain-3-Related Limb-Girdle Muscular Dystrophy R1

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Publications for Calpain-3-Related Limb-Girdle Muscular Dystrophy R1

Articles related to Calpain-3-Related Limb-Girdle Muscular Dystrophy R1:

(show all 15)

#	Title	Authors	PMID	Year
1	A large deletion and novel point mutations in the calpain 3 gene (CAPN3) in Bulgarian LGMD2A patients. ⁶	Todorova A...Horst J	17318636	2007
2	CAPN3 mutations in patients with idiopathic eosinophilic myositis. ⁶	Krahn M...Levy N	16607617	2006
3	Calpainopathy ⁶	Angelini C...Fanin M	20301490	2005
4	The frequency of limb girdle muscular dystrophy 2A in northeastern Italy. ⁶	Fanin M...Angelini C	15725583	2005
5	Prevalence of the 550delA mutation in calpainopathy (LGMD 2A) in Croatia. ⁶	Canki-Klain N...Feingold J	14981715	2004
6	Limb-Girdle Muscular Dystrophy Overview – ARCHIVED CHAPTER, FOR HISTORICAL REFERENCE ONLY ⁶	Pegoraro E...Hoffman EP	20301582	2000
7	Clinical, pathological, and genetic features of limb-girdle muscular dystrophy type 2A with new calpain 3 gene mutations in seven patients from three Japanese families. ⁶	Kawai H...Matsumoto T	9771675	1998
8	Limb-girdle muscular dystrophy in Guipúzcoa (Basque Country, Spain). ⁶	Urtasun M...Lopez de Munain A	9762961	1998
9	DNA studies of limb-girdle muscular dystrophy type 2A in the Amish exclude a modifying mitochondrial gene and show no evidence for a modifying nuclear gene. ⁶	Pratt VM...Feldman GL	9246005	1997
10	Multiple independent molecular etiology for limb-girdle muscular dystrophy type 2A patients from various geographical origins. ⁶	Richard I...Beckmann JS	9150160	1997
11	Mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A. ⁶	Richard I...Roudaut C	7720071	1995
12	Eosinophilic infiltration related to CAPN3 mutations: a pathophysiological component of primary calpainopathy? ⁶¹	Krahn M...Lopez de Munain A	21204801	2011
13	How to tackle the diagnosis of limb-girdle muscular dystrophy 2A. ⁶¹	Fanin M...Angelini C	18854869	2009
14	Sarcolemmal neuronal nitric oxide synthase defect in limb-girdle muscular dystrophy: an adverse modulating factor in the disease course? ⁶¹	Fanin M...Angelini C	19287313	2009
15	Screening of calpain-3 autolytic activity in LGMD muscle: a functional map of CAPN3 gene mutations. ⁶¹	Fanin M...Angelini C	16971480	2007

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Genes for Calpain-3-Related Limb-Girdle Muscular Dystrophy R1

Genes related to Calpain-3-Related Limb-Girdle Muscular Dystrophy R1 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	CAPN3	Calpain 3	Protein Coding	750	Pathogenic/Likely pathogenic ⁶ Pathogenic ⁶ Causative germline mutation ⁵⁸	14981715 20301490 20301582 (more) 9762961 17318636 16607617 9771675 9150160 9246005 15725583 7720071

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Variations for Calpain-3-Related Limb-Girdle Muscular Dystrophy R1

ClinVar genetic disease variations for Calpain-3-Related Limb-Girdle Muscular Dystrophy R1:

⁶ (show top 50) (show all 478) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	CAPN3	NC_000015.10:g.(?_42359500)_(42412317_?)del	deletion	Pathogenic	468637		15:42651698-42704515	15:42359500-42412317
2	CAPN3	NM_000070.3(CAPN3):c.518G>A (p.Trp173Ter)	SNV	Pathogenic	441261	rs1555420475	15:42679970-42679970	15:42387772-42387772
3	CAPN3	NM_000070.3(CAPN3):c.1027G>T (p.Glu343Ter)	SNV	Pathogenic	497182	rs766334893	15:42684918-42684918	15:42392720-42392720
4	CAPN3	NM_000070.3(CAPN3):c.1118G>A (p.Trp373Ter)	SNV	Pathogenic	497833	rs1555421523	15:42689000-42689000	15:42396802-42396802
5	CAPN3	NM_000070.3(CAPN3):c.1524+1G>A	SNV	Pathogenic	536512	rs1275289254	15:42694009-42694009	15:42401811-42401811
6	CAPN3	NM_000070.3(CAPN3):c.727_730delinsAT (p.Asp243fs)	indel	Pathogenic	536516	rs1555420642	15:42681220-42681223	15:42389022-42389025
7	CAPN3	NM_000070.3(CAPN3):c.291C>A (p.Phe97Leu)	SNV	Pathogenic	548137	rs758058910	15:42652294-42652294	15:42360096-42360096
8	CAPN3	NM_000070.3(CAPN3):c.2242C>G (p.Arg748Gly)	SNV	Pathogenic	548138	rs768090444	15:42702843-42702843	15:42410645-42410645
9	CAPN3	NM_000070.3(CAPN3):c.1838del (p.Lys613fs)	deletion	Pathogenic	554906	rs1555422832	15:42700445-42700445	15:42408247-42408247
10	CAPN3	NM_000070.3(CAPN3):c.1524+1G>T	SNV	Pathogenic	554341	rs1275289254	15:42694009-42694009	15:42401811-42401811
11	CAPN3	NM_000070.3(CAPN3):c.2314_2317del (p.Asp772fs)	deletion	Pathogenic	552945	rs764086484	15:42703130-42703133	15:42410932-42410935
12	CAPN3	NM_000070.3(CAPN3):c.2050+1G>A	SNV	Pathogenic	553754	rs768374736	15:42702043-42702043	15:42409845-42409845
13	CAPN3	NM_000070.3(CAPN3):c.2065_2066AC[2] (p.His690fs)	short repeat	Pathogenic	551927	rs1555423046	15:42702143-42702144	15:42409945-42409946
14	CAPN3	NM_000070.3(CAPN3):c.801+1G>A	SNV	Pathogenic	552843	rs1459288402	15:42681295-42681295	15:42389097-42389097
15	CAPN3	NM_000070.3(CAPN3):c.1079G>A (p.Trp360Ter)	SNV	Pathogenic	550578	rs1555421280	15:42686503-42686503	15:42394305-42394305
16	CAPN3	NM_000070.3(CAPN3):c.1771del (p.Asp591fs)	deletion	Pathogenic	578891	rs754761503	15:42695963-42695963	15:42403765-42403765
17	CAPN3	NM_000070.3(CAPN3):c.967G>T (p.Glu323Ter)	SNV	Pathogenic	620114	rs750443041	15:42684858-42684858	15:42392660-42392660
18	CAPN3	NM_000070.3(CAPN3):c.509dup (p.Tyr170Ter)	duplication	Pathogenic	653660		15:42679960-42679961	15:42387762-42387763
19	CAPN3	NC_000015.10:g.(?_42359796)_(42399662_?)del	deletion	Pathogenic	647946		15:42651994-42691860	15:42359796-42399662
20	CAPN3	NC_000015.10:g.(?_42359796)_(42411783_?)del	deletion	Pathogenic	655755		15:42651994-42703981	15:42359796-42411783
21	CAPN3	NC_000015.10:g.(?_42389933)_(42411793_?)del	deletion	Pathogenic	650702		15:42682131-42703991	15:42389933-42411793
22	CAPN3	NC_000015.10:g.(?_42394246)_(42394351_?)del	deletion	Pathogenic	648523		15:42686444-42686549	15:42394246-42394351
23	CAPN3	NM_000070.3(CAPN3):c.946-2A>G	SNV	Pathogenic	663747		15:42684835-42684835	15:42392637-42392637
24	CAPN3	NM_000070.3(CAPN3):c.1576del (p.Leu526fs)	deletion	Pathogenic	655955		15:42695030-42695030	15:42402832-42402832
25	CAPN3	NM_000070.3(CAPN3):c.1933del (p.Asp645fs)	deletion	Pathogenic	663070		15:42701519-42701519	15:42409321-42409321
26	CAPN3	NM_000070.3(CAPN3):c.2118_2121del (p.Asp707fs)	deletion	Pathogenic	659272		15:42702628-42702631	15:42410430-42410433
27	CAPN3	NC_000015.10:g.(?_42359796)_(42360124_?)del	deletion	Pathogenic	640989		15:42651994-42652322	15:42359796-42360124
28	CAPN3	NM_000070.3(CAPN3):c.1106G>A (p.Trp369Ter)	SNV	Pathogenic	813987		15:42686530-42686530	15:42394332-42394332
29	CAPN3	NC_000015.10:g.(?_42384473)_(42390106_?)del	deletion	Pathogenic	833365		15:42676671-42682304
30	CAPN3	NC_000015.10:g.(?_42384473)_(42392732_?)del	deletion	Pathogenic	832061		15:42676671-42684930
31	CAPN3	NC_000015.10:g.(?_42384473)_(42394351_?)del	deletion	Pathogenic	832313		15:42676671-42686549
32	CAPN3	NC_000015.10:g.(?_42396790)_(42404849_?)del	deletion	Pathogenic	832060		15:42688988-42697047
33	CAPN3	NM_000070.3(CAPN3):c.100del (p.Ala34fs)	deletion	Pathogenic	861571		15:42652102-42652102	15:42359904-42359904
34	CAPN3	NM_000070.3(CAPN3):c.444del (p.Ile149fs)	deletion	Pathogenic	837974		15:42678429-42678429	15:42386231-42386231
35	CAPN3	NM_000070.3(CAPN3):c.519G>A (p.Trp173Ter)	SNV	Pathogenic	843556		15:42679971-42679971	15:42387773-42387773
36	CAPN3	NM_000070.3(CAPN3):c.562del (p.Gln188fs)	deletion	Pathogenic	859768		15:42680014-42680014	15:42387816-42387816
37	CAPN3	NM_000070.3(CAPN3):c.2162G>A (p.Trp721Ter)	SNV	Pathogenic	849826		15:42702672-42702672	15:42410474-42410474
38	CAPN3	NM_000070.3(CAPN3):c.2230del (p.Ser744fs)	deletion	Pathogenic	864339		15:42702831-42702831	15:42410633-42410633
39	CAPN3	NM_000070.3(CAPN3):c.2318_2321dup (p.His774fs)	duplication	Pathogenic	837037		15:42703132-42703133	15:42410934-42410935
40	CAPN3	NM_000070.3(CAPN3):c.796del (p.Ile266fs)	deletion	Pathogenic	850654		15:42681289-42681289	15:42389091-42389091
41	CAPN3	NM_000070.3(CAPN3):c.806del (p.Gly269fs)	deletion	Pathogenic	845509		15:42682154-42682154	15:42389956-42389956
42	CAPN3	NM_000070.3(CAPN3):c.2306G>A (p.Arg769Gln)	SNV	Pathogenic	17613	rs80338802	15:42703124-42703124	15:42410926-42410926
43	CAPN3	NM_000070.3(CAPN3):c.1715G>A (p.Arg572Gln)	SNV	Pathogenic	17614	rs121434544	15:42695170-42695170	15:42402972-42402972
44	CAPN3	NM_000070.3(CAPN3):c.328C>T (p.Arg110Ter)	SNV	Pathogenic	17615	rs121434545	15:42676699-42676699	15:42384501-42384501
45	CAPN3	NM_000070.3(CAPN3):c.257C>T (p.Ser86Phe)	SNV	Pathogenic	17616	rs121434546	15:42652260-42652260	15:42360062-42360062
46	CAPN3	NM_000070.3(CAPN3):c.2362_2363delinsTCATCT (p.Arg788fs)	indel	Pathogenic	17618	rs1555423217	15:42703180-42703181	15:42410982-42410983
47	CAPN3	NM_000070.3(CAPN3):c.1080G>C (p.Trp360Cys)	SNV	Pathogenic	17619	rs267606703	15:42686504-42686504	15:42394306-42394306
48	CAPN3	NM_000070.3(CAPN3):c.1795dup (p.Thr599fs)	duplication	Pathogenic	17620	rs80338803	15:42698129-42698130	15:42405931-42405932
49	CAPN3	NM_000070.3(CAPN3):c.550del (p.Thr184fs)	deletion	Pathogenic	17621	rs80338800	15:42680001-42680001	15:42387803-42387803
50	CAPN3	NM_000070.3(CAPN3):c.1469G>A (p.Arg490Gln)	SNV	Pathogenic	17622	rs121434548	15:42693953-42693953	15:42401755-42401755

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Expression for Calpain-3-Related Limb-Girdle Muscular Dystrophy R1

Search GEO for disease gene expression data for Calpain-3-Related Limb-Girdle Muscular Dystrophy R1.

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Pathways for Calpain-3-Related Limb-Girdle Muscular Dystrophy R1

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GO Terms for Calpain-3-Related Limb-Girdle Muscular Dystrophy R1

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Sources for Calpain-3-Related Limb-Girdle Muscular Dystrophy R1

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