Congenital Muscular Dystrophy-Dystroglycanopathy A7 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: CNG551 MIFTS: 29	Congenital Muscular Dystrophy-Dystroglycanopathy A7 Categories: Eye diseases, Fetal diseases, Genetic diseases, Mental diseases, Metabolic diseases, Muscle diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Expand all tables

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Aliases & Classifications for Congenital Muscular Dystrophy-Dystroglycanopathy A7

MalaCards integrated aliases for Congenital Muscular Dystrophy-Dystroglycanopathy A7:

Name: Congenital Muscular Dystrophy-Dystroglycanopathy A7 ¹² ¹⁵

Congenital Muscular Dystrophy-Dystroglycanopathy with Brain and Eye Anomalies, Type A7 ²⁹ ⁶

Congenital Muscular Dystrophy-Dystroglycanopathy with Brain and Eye Anomalies Type A7 ¹²

Walker-Warburg Syndrome or Muscle-Eye-Brain Disease Ispd-Related ¹²

Mddga7 ¹²

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases Fetal diseases
Anatomical: Muscle diseases Neuronal diseases Eye diseases Mental diseases

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹² DOID:0111234

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Summaries for Congenital Muscular Dystrophy-Dystroglycanopathy A7

Disease Ontology : ¹² A congenital muscular dystrophy-dystroglycanopathy type A that has material basis in homozygous or compound heterozygous mutation in ISPD on 7p21.2-p21.1.

MalaCards based summary : Congenital Muscular Dystrophy-Dystroglycanopathy A7, also known as congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type a7, is related to muscular dystrophy-dystroglycanopathy , type a, 7 and muscular dystrophy-dystroglycanopathy , type a, 8. An important gene associated with Congenital Muscular Dystrophy-Dystroglycanopathy A7 is CRPPA (CDP-L-Ribitol Pyrophosphorylase A), and among its related pathways/superpathways is Mannose type O-glycan biosynthesis. Affiliated tissues include eye, brain and skeletal muscle.

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Related Diseases for Congenital Muscular Dystrophy-Dystroglycanopathy A7

Diseases in the Muscular Dystrophy-Dystroglycanopathy family:

Diseases related to Congenital Muscular Dystrophy-Dystroglycanopathy A7 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 41)

#	Related Disease	Score	Top Affiliating Genes
1	muscular dystrophy-dystroglycanopathy , type a, 7	32.0	CRPPA-AS1 CRPPA
2	muscular dystrophy-dystroglycanopathy , type a, 8	10.2	CRPPA-AS1 CRPPA
3	congenital muscular dystrophy due to dystroglycanopathy	10.1	FKRP CRPPA
4	limb-girdle muscular dystrophy	10.0	FKTN FKRP
5	congenital muscular dystrophy-dystroglycanopathy type a1	10.0	FKTN FKRP
6	muscular dystrophy, congenital, 1b	9.9	FKTN FKRP
7	emery-dreifuss muscular dystrophy 2, autosomal dominant	9.9	LEMD3 FKRP
8	autosomal recessive limb-girdle muscular dystrophy type 2l	9.9	FKTN FKRP
9	muscular dystrophy-dystroglycanopathy , type c, 2	9.9	FKTN FKRP
10	emery-dreifuss muscular dystrophy	9.9	LEMD3 FKRP
11	muscular dystrophy-dystroglycanopathy , type c, 1	9.9	FKTN FKRP
12	ablepharon-macrostomia syndrome	9.9	FKTN FKRP
13	muscular dystrophy-dystroglycanopathy , type c, 4	9.9	FKTN FKRP
14	muscular dystrophy-dystroglycanopathy , type b, 5	9.9	FKTN FKRP
15	autosomal recessive limb-girdle muscular dystrophy type 2d	9.9	FKTN FKRP
16	muscular dystrophy, congenital merosin-deficient, 1a	9.9	FKTN FKRP
17	fukuyama type muscular dystrophy	9.9	FKTN FKRP
18	adermatoglyphia	9.9	FKTN FKRP
19	muscular dystrophy, becker type	9.9	FKTN FKRP
20	muscular dystrophy-dystroglycanopathy , type c, 3	9.9	FKTN FKRP
21	glaucoma 3, primary congenital, a	9.8	FKTN FKRP
22	muscle eye brain disease	9.8	FKTN FKRP
23	rigid spine muscular dystrophy 1	9.8	FKTN FKRP
24	congenital muscular dystrophy without intellectual disability	9.8	FKTN FKRP CRPPA
25	muscular dystrophy-dystroglycanopathy , type b, 6	9.8	FKTN FKRP CRPPA
26	cobblestone lissencephaly	9.8	FKTN FKRP CRPPA
27	ullrich congenital muscular dystrophy 1	9.8	FKTN FKRP
28	lissencephaly	9.8	FKTN FKRP CRPPA
29	congenital muscular dystrophy-dystroglycanopathy type a	9.8	FKTN FKRP CRPPA
30	muscular dystrophy-dystroglycanopathy , type c, 5	9.8	FKTN FKRP CRPPA
31	muscular dystrophy-dystroglycanopathy , type a, 4	9.8	FKTN FKRP CRPPA
32	autosomal recessive limb-girdle muscular dystrophy	9.8	FKTN FKRP CRPPA
33	muscular dystrophy, limb-girdle, autosomal recessive 2	9.8	FKTN FKRP CRPPA
34	bethlem myopathy 1	9.7	FKTN FKRP
35	muscular dystrophy, congenital, lmna-related	9.7	LEMD3 FKTN FKRP
36	muscle tissue disease	9.7	FKTN FKRP
37	muscular dystrophy-dystroglycanopathy	9.6	FKTN FKRP CRPPA-AS1 CRPPA
38	muscular dystrophy	9.6	FKTN FKRP CRPPA-AS1 CRPPA
39	muscular dystrophy-dystroglycanopathy , type c, 7	9.6	FKTN FKRP CRPPA-AS1 CRPPA
40	muscular dystrophy-dystroglycanopathy , type a, 1	9.6	FKTN FKRP
41	walker-warburg syndrome	9.4	LEMD3 FKTN FKRP CRPPA-AS1 CRPPA

Graphical network of the top 20 diseases related to Congenital Muscular Dystrophy-Dystroglycanopathy A7:

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Symptoms & Phenotypes for Congenital Muscular Dystrophy-Dystroglycanopathy A7

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Drugs & Therapeutics for Congenital Muscular Dystrophy-Dystroglycanopathy A7

Search Clinical Trials , NIH Clinical Center for Congenital Muscular Dystrophy-Dystroglycanopathy A7

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Genetic Tests for Congenital Muscular Dystrophy-Dystroglycanopathy A7

Genetic tests related to Congenital Muscular Dystrophy-Dystroglycanopathy A7:

#	Genetic test	Affiliating Genes
1	Congenital Muscular Dystrophy-Dystroglycanopathy with Brain and Eye Anomalies, Type A7 ²⁹	CRPPA

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Anatomical Context for Congenital Muscular Dystrophy-Dystroglycanopathy A7

MalaCards organs/tissues related to Congenital Muscular Dystrophy-Dystroglycanopathy A7:

⁴⁰

Eye, Brain, Skeletal Muscle

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Publications for Congenital Muscular Dystrophy-Dystroglycanopathy A7

Articles related to Congenital Muscular Dystrophy-Dystroglycanopathy A7:

(show all 13)

#	Title	Authors	PMID	Year
1	Congenital muscular dystrophies in the UK population: Clinical and molecular spectrum of a large cohort diagnosed over a 12-year period. ⁶	Sframeli M...Muntoni F	28688748	2017
2	Discovery of pathogenic variants in a large Korean cohort of inherited muscular disorders. ⁶	Park HJ...Choi YC	27363342	2017
3	160 kb deletion in ISPD unmasking a recessive mutation in a patient with Walker-Warburg syndrome. ⁶	Czeschik JC...Wieczorek D	24120487	2013
4	Limb-girdle muscular dystrophy with α-dystroglycan deficiency and mutations in the ISPD gene. ⁶	Tasca G...Ricci E	23390185	2013
5	ISPD gene mutations are a common cause of congenital and limb-girdle muscular dystrophies. ⁶	Cirak S...Muntoni F	23288328	2013
6	Identification of mutations in TMEM5 and ISPD as a cause of severe cobblestone lissencephaly. ⁶	Vuillaumier-Barrot S...Seta N	23217329	2012
7	Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan. ⁶	Roscioli T...van Bokhoven H	22522421	2012
8	ISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndrome. ⁶	Willer T...Campbell KP	22522420	2012
9	Basal lamina abnormality in the skeletal muscle of Walker-Warburg syndrome. ⁶	Vajsar J...Becker LE	10738921	2000
10	Walker-Warburg syndrome: neurologic features and muscle membrane structure. ⁶	Kanoff RJ...Pegoraro E	9492098	1998
11	Prenatal diagnosis of retinal nonattachment in the Walker-Warburg syndrome. ⁶	Chitayat D...Becker LE	7604843	1995
12	Cooperative enhancement at the Drosophila Sgs-3 locus. ⁶	Roark M...Meyerowitz EM	2328832	1990
13	Immune response to the iron-deprivation-induced proteins of Salmonella typhi in typhoid fever. ⁶	Fernandez-Beros ME...Cabello FC	2522420	1989

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Genes for Congenital Muscular Dystrophy-Dystroglycanopathy A7

Genes related to Congenital Muscular Dystrophy-Dystroglycanopathy A7 (2 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	CRPPA	CDP-L-Ribitol Pyrophosphorylase A	Protein Coding	532.79	Pathogenic ⁶ Genetic Tests ²⁹ Likely pathogenic ⁶ DISEASES inferred ¹⁵	9492098 22522420 27363342 (more) 28688748 23288328
2	CRPPA-AS1	CRPPA Antisense RNA 1	RNA Gene	425	Pathogenic ⁶ Likely pathogenic ⁶	22522420 23288328 9492098 (more) 23390185
3	LEMD3	LEM Domain Containing 3	Protein Coding	6.2	DISEASES inferred ¹⁵
4	SPSB2	SplA/Ryanodine Receptor Domain And SOCS Box Containing 2	Protein Coding	6.08	DISEASES inferred ¹⁵
5	FKTN	Fukutin	Protein Coding	6.02	DISEASES inferred ¹⁵
6	FKRP	Fukutin Related Protein	Protein Coding	5.95	DISEASES inferred ¹⁵
7	RAB11FIP3	RAB11 Family Interacting Protein 3	Protein Coding	5.91	DISEASES inferred ¹⁵
8	SPSB1	SplA/Ryanodine Receptor Domain And SOCS Box Containing 1	Protein Coding	5.89	DISEASES inferred ¹⁵

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Variations for Congenital Muscular Dystrophy-Dystroglycanopathy A7

ClinVar genetic disease variations for Congenital Muscular Dystrophy-Dystroglycanopathy A7:

⁶ (show top 50) (show all 151)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	CRPPA , CRPPA-AS1	NM_001101426.4(CRPPA):c.1120-1G>T	SNV	Pathogenic	31561	rs397515396	GRCh37: 7:16255823-16255823 GRCh38: 7:16216198-16216198
2	CRPPA	NM_001101426.3(CRPPA):c.(535_684)+6399_(535_684)+14526del	Deletion	Pathogenic	31562		GRCh37: 7:16401191-16431594 GRCh38: 7:16361566-16391969
3	CRPPA	NM_001101426.4(CRPPA):c.789+2T>G	SNV	Pathogenic	31563	rs397515397	GRCh37: 7:16348146-16348146 GRCh38: 7:16308521-16308521
4	CRPPA	NM_001101426.4(CRPPA):c.647C>A (p.Ala216Asp)	SNV	Pathogenic	31565	rs387907160	GRCh37: 7:16415754-16415754 GRCh38: 7:16376129-16376129
5	CRPPA	NM_001101426.4(CRPPA):c.832A>T (p.Lys278Ter)	SNV	Pathogenic	31566	rs387907161	GRCh37: 7:16341049-16341049 GRCh38: 7:16301424-16301424
6	CRPPA	NM_001101426.4(CRPPA):c.364G>C (p.Ala122Pro)	SNV	Pathogenic	31567	rs387907162	GRCh37: 7:16445856-16445856 GRCh38: 7:16406231-16406231
7	CRPPA	NM_001101426.4(CRPPA):c.638T>G (p.Met213Arg)	SNV	Pathogenic	39609	rs397515408	GRCh37: 7:16415763-16415763 GRCh38: 7:16376138-16376138
8	CRPPA	NM_001101426.3(CRPPA):c.535-?_933+?del	Deletion	Pathogenic	39610		GRCh37: 7:16317753-16415867 GRCh38: 7:16278129-16376241
9	CRPPA	NM_001101426.4(CRPPA):c.466G>A (p.Asp156Asn)	SNV	Pathogenic	39611	rs397514547	GRCh37: 7:16445754-16445754 GRCh38: 7:16406129-16406129
10	CRPPA	NM_001101426.4(CRPPA):c.256A>T (p.Arg86Ter)	SNV	Pathogenic	39613	rs397514548	GRCh37: 7:16460692-16460692 GRCh38: 7:16421067-16421067
11	CRPPA	NC_000007.14:g.(?_16406061)_(16406337_?)del	Deletion	Pathogenic	473152		GRCh37: GRCh38: 7:16406061-16406337
12	CRPPA	NM_001101426.4(CRPPA):c.874_886del (p.Glu292fs)	Deletion	Pathogenic	473159	rs1554305719	GRCh37: 7:16317801-16317813 GRCh38: 7:16278176-16278188
13	CRPPA , CRPPA-AS1	NM_001101426.4(CRPPA):c.1120-1G>T	SNV	Pathogenic	31561	rs397515396	GRCh37: 7:16255823-16255823 GRCh38: 7:16216198-16216198
14	CRPPA	NM_001101426.4(CRPPA):c.1315G>T (p.Glu439Ter)	SNV	Pathogenic	561033	rs1202301143	GRCh37: 7:16131361-16131361 GRCh38: 7:16091736-16091736
15	CRPPA	NM_001101426.4(CRPPA):c.1354T>A (p.Ter452Arg)	SNV	Pathogenic	561034	rs186882839	GRCh37: 7:16131322-16131322 GRCh38: 7:16091697-16091697
16	CRPPA	NC_000007.13:g.(?_16341026)_(16348272_?)del	Deletion	Pathogenic	473151		GRCh37: 7:16341026-16348272 GRCh38:
17	CRPPA and overlap with 1 gene(s)	NC_000007.14:g.(?_16216046)_(16376261_?)del	Deletion	Pathogenic	583458		GRCh37: 7:16255671-16415886 GRCh38: 7:16216046-16376261
18	CRPPA and overlap with 1 gene(s)	NC_000007.14:g.(?_16091675)_(16216217_?)del	Deletion	Pathogenic	583718		GRCh37: 7:16131300-16255842 GRCh38: 7:16091675-16216217
19	CRPPA	NM_001101426.4(CRPPA):c.773C>A (p.Ser258Ter)	SNV	Pathogenic	656769	rs1466219701	GRCh37: 7:16348164-16348164 GRCh38: 7:16308539-16308539
20	CRPPA	NC_000007.14:g.(?_16301411)_(16308637_?)del	Deletion	Pathogenic	656841		GRCh37: 7:16341036-16348262 GRCh38: 7:16301411-16308637
21	CRPPA	NC_000007.14:g.(?_16308513)_(16376251_?)del	Deletion	Pathogenic	663410		GRCh37: 7:16348138-16415876 GRCh38: 7:16308513-16376251
22	overlap with 5 genes	NC_000007.14:g.(?_16308523)_(16689906_?)del	Deletion	Pathogenic	583954		GRCh37: 7:16348148-16729531 GRCh38: 7:16308523-16689906
23	CRPPA	NM_001101426.4(CRPPA):c.704_705del (p.Glu235fs)	Deletion	Pathogenic	954357		GRCh37: 7:16348232-16348233 GRCh38: 7:16308607-16308608
24	CRPPA	NM_001101426.4(CRPPA):c.802C>T (p.Arg268Ter)	SNV	Pathogenic	31568	rs368593151	GRCh37: 7:16341079-16341079 GRCh38: 7:16301454-16301454
25	CRPPA , CRPPA-AS1	NM_001101426.4(CRPPA):c.1198G>T (p.Glu400Ter)	SNV	Pathogenic	960841		GRCh37: 7:16255744-16255744 GRCh38: 7:16216119-16216119
26	CRPPA	NM_001101426.4(CRPPA):c.713C>T (p.Thr238Ile)	SNV	Pathogenic	39612	rs397515409	GRCh37: 7:16348224-16348224 GRCh38: 7:16308599-16308599
27	CRPPA	NM_001101426.4(CRPPA):c.53dup (p.Ser19Glufs)	Duplication	Pathogenic	279985	rs886041302	GRCh37: 7:16460894-16460895 GRCh38: 7:16421269-16421270
28	CRPPA , CRPPA-AS1	NM_001101426.4(CRPPA):c.1186G>T (p.Glu396Ter)	SNV	Pathogenic	283091	rs886042554	GRCh37: 7:16255756-16255756 GRCh38: 7:16216131-16216131
29	CRPPA	NM_001101426.4(CRPPA):c.53dup (p.Ser19Glufs)	Duplication	Pathogenic	279985	rs886041302	GRCh37: 7:16460894-16460895 GRCh38: 7:16421269-16421270
30	CRPPA	NM_001101426.4(CRPPA):c.277_279del (p.Ile93del)	Deletion	Pathogenic	31564	rs397515398	GRCh37: 7:16445941-16445943 GRCh38: 7:16406316-16406318
31	CRPPA	NM_001101426.4(CRPPA):c.277_279del (p.Ile93del)	Deletion	Pathogenic	31564	rs397515398	GRCh37: 7:16445941-16445943 GRCh38: 7:16406316-16406318
32	CRPPA	NM_001101426.4(CRPPA):c.933+1G>A	SNV	Likely pathogenic	956079		GRCh37: 7:16317753-16317753 GRCh38: 7:16278128-16278128
33	CRPPA , CRPPA-AS1	NC_000007.14:g.(?_16258380)_(16259022_?)del	Deletion	Likely pathogenic	661726		GRCh37: 7:16298005-16298647 GRCh38: 7:16258380-16259022
34	CRPPA	NC_000007.14:g.(?_16376072)_(16376261_?)del	Deletion	Likely pathogenic	583821		GRCh37: 7:16415697-16415886 GRCh38: 7:16376072-16376261
35	CRPPA	NM_001101426.4(CRPPA):c.835+2T>C	SNV	Likely pathogenic	582317	rs773325665	GRCh37: 7:16341044-16341044 GRCh38: 7:16301419-16301419
36	CRPPA , CRPPA-AS1	NC_000007.14:g.(?_16258370)_(16259032_?)del	Deletion	Likely pathogenic	540374		GRCh37: 7:16297995-16298657 GRCh38: 7:16258370-16259032
37	CRPPA	NM_001101426.4(CRPPA):c.258-1G>C	SNV	Likely pathogenic	287941	rs767978961	GRCh37: 7:16445963-16445963 GRCh38: 7:16406338-16406338
38	CRPPA	NM_001101426.4(CRPPA):c.356T>A (p.Leu119Gln)	SNV	Uncertain significance	473155	rs1356080750	GRCh37: 7:16445864-16445864 GRCh38: 7:16406239-16406239
39	CRPPA	NM_001101426.4(CRPPA):c.816G>A (p.Ala272=)	SNV	Uncertain significance	473158	rs754348253	GRCh37: 7:16341065-16341065 GRCh38: 7:16301440-16301440
40	CRPPA , CRPPA-AS1	NM_001101426.4(CRPPA):c.1010A>G (p.Asn337Ser)	SNV	Uncertain significance	473153	rs369832637	GRCh37: 7:16298561-16298561 GRCh38: 7:16258936-16258936
41	CRPPA	NM_001101426.4(CRPPA):c.847C>G (p.Gln283Glu)	SNV	Uncertain significance	540371	rs750477422	GRCh37: 7:16317840-16317840 GRCh38: 7:16278215-16278215
42	CRPPA	NM_001101426.4(CRPPA):c.13C>T (p.Pro5Ser)	SNV	Uncertain significance	540372	rs1037010291	GRCh37: 7:16460935-16460935 GRCh38: 7:16421310-16421310
43	CRPPA , CRPPA-AS1	NC_000007.14:g.(?_16216046)_(16216217_?)del	Deletion	Uncertain significance	540375		GRCh37: 7:16255671-16255842 GRCh38: 7:16216046-16216217
44	CRPPA	NM_001101426.4(CRPPA):c.933+5G>C	SNV	Uncertain significance	520427	rs1554305652	GRCh37: 7:16317749-16317749 GRCh38: 7:16278124-16278124
45	CRPPA	NM_001101426.4(CRPPA):c.200A>C (p.Gln67Pro)	SNV	Uncertain significance	287450	rs886043637	GRCh37: 7:16460748-16460748 GRCh38: 7:16421123-16421123
46	CRPPA	NM_001101426.4(CRPPA):c.160G>T (p.Gly54Trp)	SNV	Uncertain significance	572350	rs1036959263	GRCh37: 7:16460788-16460788 GRCh38: 7:16421163-16421163
47	CRPPA , CRPPA-AS1	NM_001101426.4(CRPPA):c.990C>G (p.Ile330Met)	SNV	Uncertain significance	574208	rs373422736	GRCh37: 7:16298581-16298581 GRCh38: 7:16258956-16258956
48	CRPPA	NM_001101426.4(CRPPA):c.636A>C (p.Glu212Asp)	SNV	Uncertain significance	497567	rs1008210645	GRCh37: 7:16415765-16415765 GRCh38: 7:16376140-16376140
49	CRPPA	NM_001101426.4(CRPPA):c.221G>C (p.Arg74Thr)	SNV	Uncertain significance	497569	rs1292380177	GRCh37: 7:16460727-16460727 GRCh38: 7:16421102-16421102
50	CRPPA	NM_001101426.4(CRPPA):c.881A>G (p.Asp294Gly)	SNV	Uncertain significance	290098	rs547473863	GRCh37: 7:16317806-16317806 GRCh38: 7:16278181-16278181

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Expression for Congenital Muscular Dystrophy-Dystroglycanopathy A7

Search GEO for disease gene expression data for Congenital Muscular Dystrophy-Dystroglycanopathy A7.

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Pathways for Congenital Muscular Dystrophy-Dystroglycanopathy A7

Pathways related to Congenital Muscular Dystrophy-Dystroglycanopathy A7 according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Mannose type O-glycan biosynthesis ³⁶	10.16	FKTN FKRP CRPPA

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GO Terms for Congenital Muscular Dystrophy-Dystroglycanopathy A7

Cellular components related to Congenital Muscular Dystrophy-Dystroglycanopathy A7 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	SCF ubiquitin ligase complex	GO:0019005	8.62	SPSB2 SPSB1

Biological processes related to Congenital Muscular Dystrophy-Dystroglycanopathy A7 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	protein glycosylation	GO:0006486	9.13	FKTN FKRP CRPPA
2	protein O-linked mannosylation	GO:0035269	8.8	FKTN FKRP CRPPA

Molecular functions related to Congenital Muscular Dystrophy-Dystroglycanopathy A7 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	protein binding, bridging involved in substrate recognition for ubiquitination	GO:1990756	8.62	SPSB2 SPSB1

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Sources for Congenital Muscular Dystrophy-Dystroglycanopathy A7

¹ BioSystems

² BitterDB

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²⁴ GeneHancer via GeneCards

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²⁷ GEO DataSets

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³¹ HPO

³² ICD10

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⁴¹ MedGen

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⁵¹ NDF-RT

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⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 20-May-2021)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ Tocris

⁷⁰ UMLS

⁷¹ UMLS via Orphanet

⁷² UniProtKB/Swiss-Prot

⁷³ Wikipedia