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

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:



External Ids:

Disease Ontology 12 DOID:0111234

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.

Related Diseases for Congenital Muscular Dystrophy-Dystroglycanopathy A7

Diseases in the Muscular Dystrophy-Dystroglycanopathy family:

Muscular Dystrophy-Dystroglycanopathy , Type a, 1 Muscular Dystrophy-Dystroglycanopathy , Type a, 3
Muscular Dystrophy-Dystroglycanopathy , Type a, 4 Muscular Dystrophy-Dystroglycanopathy , Type B, 5
Muscular Dystrophy-Dystroglycanopathy , Type C, 5 Muscular Dystrophy-Dystroglycanopathy , Type B, 6
Muscular Dystrophy-Dystroglycanopathy , Type C, 1 Muscular Dystrophy-Dystroglycanopathy , Type C, 4
Muscular Dystrophy-Dystroglycanopathy , Type C, 15 Muscular Dystrophy-Dystroglycanopathy , Type a, 2
Muscular Dystrophy-Dystroglycanopathy , Type B, 3 Muscular Dystrophy-Dystroglycanopathy , Type B, 4
Muscular Dystrophy-Dystroglycanopathy , Type a, 5 Muscular Dystrophy-Dystroglycanopathy , Type a, 6
Muscular Dystrophy-Dystroglycanopathy , Type B, 1 Muscular Dystrophy-Dystroglycanopathy , Type B, 2
Muscular Dystrophy-Dystroglycanopathy , Type C, 3 Muscular Dystrophy-Dystroglycanopathy , Type C, 2
Muscular Dystrophy-Dystroglycanopathy , Type C, 9 Muscular Dystrophy-Dystroglycanopathy , Type a, 7
Muscular Dystrophy-Dystroglycanopathy , Type a, 8 Muscular Dystrophy-Dystroglycanopathy , Type a, 10
Muscular Dystrophy-Dystroglycanopathy , Type a, 11 Muscular Dystrophy-Dystroglycanopathy , Type a, 12
Muscular Dystrophy-Dystroglycanopathy , Type a, 13 Muscular Dystrophy-Dystroglycanopathy , Type a, 14
Muscular Dystrophy-Dystroglycanopathy , Type B, 14 Muscular Dystrophy-Dystroglycanopathy , Type C, 14
Muscular Dystrophy-Dystroglycanopathy , Type C, 7 Muscular Dystrophy-Dystroglycanopathy , Type C, 12
Muscular Dystrophy-Dystroglycanopathy , Type a, 9 Muscular Dystrophy-Dystroglycanopathy , Type C, 8
Muscular Dystrophy-Dystroglycanopathy , Type B, 15 Congenital Muscular Dystrophy-Dystroglycanopathy Type a
Congenital Muscular Dystrophy-Dystroglycanopathy Type A11 Congenital Muscular Dystrophy-Dystroglycanopathy Type A8
Congenital Muscular Dystrophy-Dystroglycanopathy Type A9 Congenital Muscular Dystrophy-Dystroglycanopathy A14
Congenital Muscular Dystrophy-Dystroglycanopathy A7 Congenital Muscular Dystrophy-Dystroglycanopathy Type A12
Congenital Muscular Dystrophy-Dystroglycanopathy Type A3 Congenital Muscular Dystrophy-Dystroglycanopathy Type A1
Congenital Muscular Dystrophy-Dystroglycanopathy Type A13 Congenital Muscular Dystrophy-Dystroglycanopathy Type A10
Congenital Muscular Dystrophy-Dystroglycanopathy Type A2 Congenital Muscular Dystrophy-Dystroglycanopathy Type A5
Congenital Muscular Dystrophy-Dystroglycanopathy Type A6

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:



Diseases related to Congenital Muscular Dystrophy-Dystroglycanopathy A7

Symptoms & Phenotypes for Congenital Muscular Dystrophy-Dystroglycanopathy A7

Drugs & Therapeutics for Congenital Muscular Dystrophy-Dystroglycanopathy A7

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

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

Anatomical Context for Congenital Muscular Dystrophy-Dystroglycanopathy A7

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

40
Eye, Brain, Skeletal Muscle

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
28688748 2017
2
Discovery of pathogenic variants in a large Korean cohort of inherited muscular disorders. 6
27363342 2017
3
160 kb deletion in ISPD unmasking a recessive mutation in a patient with Walker-Warburg syndrome. 6
24120487 2013
4
Limb-girdle muscular dystrophy with α-dystroglycan deficiency and mutations in the ISPD gene. 6
23390185 2013
5
ISPD gene mutations are a common cause of congenital and limb-girdle muscular dystrophies. 6
23288328 2013
6
Identification of mutations in TMEM5 and ISPD as a cause of severe cobblestone lissencephaly. 6
23217329 2012
7
Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan. 6
22522421 2012
8
ISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndrome. 6
22522420 2012
9
Basal lamina abnormality in the skeletal muscle of Walker-Warburg syndrome. 6
10738921 2000
10
Walker-Warburg syndrome: neurologic features and muscle membrane structure. 6
9492098 1998
11
Prenatal diagnosis of retinal nonattachment in the Walker-Warburg syndrome. 6
7604843 1995
12
Cooperative enhancement at the Drosophila Sgs-3 locus. 6
2328832 1990
13
Immune response to the iron-deprivation-induced proteins of Salmonella typhi in typhoid fever. 6
2522420 1989

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

Expression for Congenital Muscular Dystrophy-Dystroglycanopathy A7

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

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 10.16 FKTN FKRP CRPPA

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

Sources for Congenital Muscular Dystrophy-Dystroglycanopathy A7

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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