MCID: CNG557
MIFTS: 29

Congenital Muscular Dystrophy-Dystroglycanopathy Type A2

Categories: Eye diseases, Fetal diseases, Genetic diseases, Mental diseases, Metabolic diseases, Muscle diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Congenital Muscular Dystrophy-Dystroglycanopathy Type A2

MalaCards integrated aliases for Congenital Muscular Dystrophy-Dystroglycanopathy Type A2:

Name: Congenital Muscular Dystrophy-Dystroglycanopathy Type A2 12 15
Congenital Muscular Dystrophy-Dystroglycanopathy with Brain and Eye Anomalies, Type A2 29 6
Congenital Muscular Dystrophy-Dystroglycanopathy with Brain and Eye Anomalies Type A2 12
Walker-Warburg Syndrome or Muscle-Eye-Brain Disease, Pomt2-Related 12
Mddga2 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0111240

Summaries for Congenital Muscular Dystrophy-Dystroglycanopathy Type A2

Disease Ontology : 12 A congenital muscular dystrophy-dystroglycanopathy type A that has material basis in homozygous or compound heterozygous mutation in POMT2 on 14q24.3.

MalaCards based summary : Congenital Muscular Dystrophy-Dystroglycanopathy Type A2, also known as congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type a2, is related to muscular dystrophy-dystroglycanopathy , type a, 2 and congenital muscular dystrophy with intellectual disability. An important gene associated with Congenital Muscular Dystrophy-Dystroglycanopathy Type A2 is POMT2 (Protein O-Mannosyltransferase 2), and among its related pathways/superpathways are Metabolism and Metabolism of proteins. Affiliated tissues include eye and brain.

Related Diseases for Congenital Muscular Dystrophy-Dystroglycanopathy Type A2

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
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 Type A2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 42)
# Related Disease Score Top Affiliating Genes
1 muscular dystrophy-dystroglycanopathy , type a, 2 11.5
2 congenital muscular dystrophy with intellectual disability 10.2 POMT2 POMT1
3 congenital muscular dystrophy with cerebellar involvement 10.2 POMT2 POMT1
4 retinal lattice degeneration 10.1 POMT2 POMT1
5 autosomal recessive limb-girdle muscular dystrophy type 2l 10.1 POMT2 POMT1
6 cardiomyopathy, dilated, 1d 10.1 POMT2 POMT1
7 cobblestone lissencephaly 10.1 POMT2 POMT1
8 muscular dystrophy-dystroglycanopathy , type a, 1 10.1 POMT2 POMT1
9 congenital muscular dystrophy-dystroglycanopathy type a3 10.1 POMT2 DPM3
10 muscular dystrophy, congenital merosin-deficient, 1a 10.1 POMT2 POMT1
11 muscular dystrophy-dystroglycanopathy , type c, 5 10.0 POMT2 POMT1
12 muscle eye brain disease 10.0 POMT2 POMT1
13 congenital disorder of glycosylation, type iig 10.0 DPM3 ALG2
14 bethlem myopathy 1 10.0 POMT2 POMT1
15 kahrizi syndrome 10.0 DPM3 ALG2
16 congenital nervous system abnormality 10.0 POMT2 POMT1
17 muscular dystrophy, limb-girdle, autosomal recessive 2 9.9 POMT2 POMT1
18 fructose intolerance, hereditary 9.9 DPM3 ALG2
19 muscle tissue disease 9.9 POMT2 POMT1
20 congenital muscular dystrophy-dystroglycanopathy type a 9.8 POMT2 POMT1 DPM3
21 muscular dystrophy-dystroglycanopathy 9.8 POMT2 POMT1 DPM3
22 multiple congenital anomalies-hypotonia-seizures syndrome 9.8 PIGV PIGM
23 muscular disease 9.8 POMT2 POMT1
24 muscular dystrophy-dystroglycanopathy , type c, 2 9.8 POMT2 POMT1 DPM3
25 muscular dystrophy-dystroglycanopathy , type c, 3 9.8 POMT2 POMT1 DPM3
26 hydrophthalmos 9.8 POMT2 POMT1 DPM3
27 muscular dystrophy-dystroglycanopathy , type c, 1 9.8 POMT2 POMT1 DPM3
28 muscular dystrophy-dystroglycanopathy , type b, 6 9.8 POMT2 POMT1 DPM3
29 muscular dystrophy-dystroglycanopathy , type c, 4 9.8 POMT2 POMT1 DPM3
30 muscular dystrophy-dystroglycanopathy , type b, 5 9.8 POMT2 POMT1 DPM3
31 congenital disorders of n-linked glycosylation and multiple pathway 9.8 ALG6 ALG2
32 muscular dystrophy-dystroglycanopathy , type a, 4 9.8 POMT2 POMT1 DPM3
33 glaucoma 3, primary congenital, a 9.8 POMT2 POMT1 DPM3
34 congenital disorder of glycosylation, type iii 9.8 ALG6 ALG2
35 congenital disorder of glycosylation, type iik 9.7 ALG6 ALG2
36 congenital disorder of glycosylation, type im 9.7 DPM3 ALG6
37 periventricular nodular heterotopia 9.7 POMT2 POMT1
38 walker-warburg syndrome 9.4 POMT2 POMT1 DPM3 ALG2
39 congenital muscular dystrophy-dystroglycanopathy type a1 9.4 POMT2 POMT1 PIGM DPM3
40 congenital disorder of glycosylation, type ie 9.4 DPM3 ALG6 ALG2
41 immunodeficiency 47 9.0 PIGM DPM3 ALG6 ALG2
42 congenital disorder of glycosylation, type in 8.5 POMT2 POMT1 PIGM DPM3 ALG6 ALG2

Graphical network of the top 20 diseases related to Congenital Muscular Dystrophy-Dystroglycanopathy Type A2:



Diseases related to Congenital Muscular Dystrophy-Dystroglycanopathy Type A2

Symptoms & Phenotypes for Congenital Muscular Dystrophy-Dystroglycanopathy Type A2

Drugs & Therapeutics for Congenital Muscular Dystrophy-Dystroglycanopathy Type A2

Search Clinical Trials , NIH Clinical Center for Congenital Muscular Dystrophy-Dystroglycanopathy Type A2

Genetic Tests for Congenital Muscular Dystrophy-Dystroglycanopathy Type A2

Genetic tests related to Congenital Muscular Dystrophy-Dystroglycanopathy Type A2:

# Genetic test Affiliating Genes
1 Congenital Muscular Dystrophy-Dystroglycanopathy with Brain and Eye Anomalies, Type A2 29 POMT2

Anatomical Context for Congenital Muscular Dystrophy-Dystroglycanopathy Type A2

MalaCards organs/tissues related to Congenital Muscular Dystrophy-Dystroglycanopathy Type A2:

40
Eye, Brain

Publications for Congenital Muscular Dystrophy-Dystroglycanopathy Type A2

Variations for Congenital Muscular Dystrophy-Dystroglycanopathy Type A2

ClinVar genetic disease variations for Congenital Muscular Dystrophy-Dystroglycanopathy Type A2:

6 (show top 50) (show all 152) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 POMT2 NM_013382.5(POMT2):c.924-2A>CSNV Pathogenic 449378 rs886044256 14:77765116-77765116 14:77298773-77298773
2 POMT2 NM_013382.5(POMT2):c.648C>A (p.Cys216Ter)SNV Pathogenic 538730 rs147871747 14:77769186-77769186 14:77302843-77302843
3 POMT2 NM_013382.5(POMT2):c.673del (p.Trp225fs)deletion Pathogenic 649496 14:77767576-77767576 14:77301233-77301233
4 POMT2 NM_013382.5(POMT2):c.1912C>T (p.Arg638Ter)SNV Pathogenic 3218 rs119463989 14:77745192-77745192 14:77278849-77278849
5 POMT2 NM_013382.5(POMT2):c.1006+1G>ASNV Pathogenic 3219 rs533916138 14:77765031-77765031 14:77298688-77298688
6 POMT2 NM_013382.5(POMT2):c.1261del (p.Arg421fs)deletion Pathogenic 3220 rs587777815 14:77753158-77753158 14:77286815-77286815
7 POMT2 NM_013382.5(POMT2):c.1293dup (p.Met432fs)duplication Pathogenic 538734 rs1555352706 14:77753125-77753126 14:77286782-77286783
8 POMT2 NM_013382.5(POMT2):c.2177G>A (p.Gly726Glu)SNV Pathogenic 3222 rs267606969 14:77743795-77743795 14:77277452-77277452
9 POMT2 NM_013382.5(POMT2):c.1057G>A (p.Gly353Ser)SNV Pathogenic 3231 rs267606970 14:77762566-77762566 14:77296223-77296223
10 POMT2 POMT2, IVS12AS, G-A, -14SNV Pathogenic 3235
11 POMT2 NM_013382.5(POMT2):c.1445G>T (p.Gly482Val)SNV Pathogenic 3236 rs267606968 14:77751863-77751863 14:77285520-77285520
12 POMT2 NM_013382.5(POMT2):c.1117G>T (p.Val373Phe)SNV Pathogenic 3226 rs267606965 14:77757723-77757723 14:77291380-77291380
13 POMT2 NM_013382.5(POMT2):c.1417C>T (p.Arg473Ter)SNV Pathogenic 95535 rs368817785 14:77751891-77751891 14:77285548-77285548
14 POMT2 NM_013382.5(POMT2):c.958C>T (p.Gln320Ter)SNV Pathogenic 289683 rs775932206 14:77765080-77765080 14:77298737-77298737
15 POMT2 NM_013382.5(POMT2):c.1997A>G (p.Tyr666Cys)SNV Pathogenic/Likely pathogenic 3221 rs200198778 14:77745107-77745107 14:77278764-77278764
16 POMT2 NM_013382.5(POMT2):c.1485-2_1485-1deldeletion Likely pathogenic 579922 rs1185491348 14:77751385-77751386 14:77285042-77285043
17 POMT2 NM_013382.5(POMT2):c.1752_1753CA[1] (p.Thr585fs)short repeat Likely pathogenic 538732 rs1555351894 14:77746394-77746395 14:77280051-77280052
18 POMT2 NM_013382.5(POMT2):c.248+1G>CSNV Likely pathogenic 579369 rs961440747 14:77786776-77786776 14:77320433-77320433
19 POMT2 NM_013382.5(POMT2):c.1332+6_1332+9delshort repeat Conflicting interpretations of pathogenicity 592360 rs781093215 14:77753078-77753081 14:77286735-77286738
20 POMT2 NM_013382.5(POMT2):c.871C>G (p.Leu291Val)SNV Conflicting interpretations of pathogenicity 436382 rs764015186 14:77765850-77765850 14:77299507-77299507
21 POMT2 NM_013382.5(POMT2):c.1397G>A (p.Arg466Gln)SNV Conflicting interpretations of pathogenicity 471387 rs138266415 14:77751911-77751911 14:77285568-77285568
22 POMT2 NM_013382.7(POMT2):c.1045C>T (p.Arg349Trp)SNV Conflicting interpretations of pathogenicity 79628 rs141339355 14:77762578-77762578 14:77296235-77296235
23 POMT2 NM_013382.5(POMT2):c.232G>C (p.Glu78Gln)SNV Conflicting interpretations of pathogenicity 95541 rs151103906 14:77786793-77786793 14:77320450-77320450
24 POMT2 NM_013382.5(POMT2):c.1404A>G (p.Lys468=)SNV Conflicting interpretations of pathogenicity 194247 rs150491326 14:77751904-77751904 14:77285561-77285561
25 POMT2 NM_013382.5(POMT2):c.1485-4A>CSNV Conflicting interpretations of pathogenicity 194400 rs794727127 14:77751388-77751388 14:77285045-77285045
26 POMT2 NM_013382.5(POMT2):c.1701C>G (p.Pro567=)SNV Conflicting interpretations of pathogenicity 194648 rs151051452 14:77746759-77746759 14:77280416-77280416
27 POMT2 NM_013382.5(POMT2):c.1881G>A (p.Ala627=)SNV Conflicting interpretations of pathogenicity 194863 rs146588608 14:77746176-77746176 14:77279833-77279833
28 POMT2 NM_013382.5(POMT2):c.1903G>A (p.Val635Ile)SNV Conflicting interpretations of pathogenicity 194965 rs142299878 14:77745201-77745201 14:77278858-77278858
29 POMT2 NM_013382.5(POMT2):c.1958C>T (p.Pro653Leu)SNV Conflicting interpretations of pathogenicity 194966 rs794727228 14:77745146-77745146 14:77278803-77278803
30 POMT2 NM_013382.5(POMT2):c.84C>T (p.Ala28=)SNV Conflicting interpretations of pathogenicity 290205 rs771031903 14:77786941-77786941 14:77320598-77320598
31 POMT2 NM_013382.5(POMT2):c.1935C>T (p.Leu645=)SNV Conflicting interpretations of pathogenicity 284450 rs141193672 14:77745169-77745169 14:77278826-77278826
32 POMT2 NM_013382.5(POMT2):c.648C>T (p.Cys216=)SNV Conflicting interpretations of pathogenicity 314560 rs147871747 14:77769186-77769186 14:77302843-77302843
33 POMT2 NM_013382.5(POMT2):c.1206A>C (p.Pro402=)SNV Conflicting interpretations of pathogenicity 386968 rs142479943 14:77755152-77755152 14:77288809-77288809
34 POMT2 NM_013382.5(POMT2):c.1261C>T (p.Arg421Trp)SNV Conflicting interpretations of pathogenicity 162597 rs727502855 14:77753158-77753158 14:77286815-77286815
35 POMT2 NM_013382.5(POMT2):c.1683T>C (p.Asn561=)SNV Conflicting interpretations of pathogenicity 166904 rs146307965 14:77746777-77746777 14:77280434-77280434
36 POMT2 NM_013382.5(POMT2):c.1537A>G (p.Asn513Asp)SNV Conflicting interpretations of pathogenicity 211949 rs117173425 14:77751332-77751332 14:77284989-77284989
37 POMT2 NM_013382.5(POMT2):c.2057G>A (p.Arg686Gln)SNV Conflicting interpretations of pathogenicity 282243 rs200163818 14:77744827-77744827 14:77278484-77278484
38 POMT2 NM_013382.5(POMT2):c.651C>T (p.Ala217=)SNV Conflicting interpretations of pathogenicity 282404 rs147845081 14:77769183-77769183 14:77302840-77302840
39 POMT2 NM_013382.5(POMT2):c.649G>A (p.Ala217Thr)SNV Conflicting interpretations of pathogenicity 282839 rs144748043 14:77769185-77769185 14:77302842-77302842
40 POMT2 NM_013382.5(POMT2):c.1654-8T>GSNV Conflicting interpretations of pathogenicity 283033 rs780532724 14:77746814-77746814 14:77280471-77280471
41 POMT2 NM_013382.5(POMT2):c.1250A>G (p.Lys417Arg)SNV Conflicting interpretations of pathogenicity 260291 rs147268052 14:77755108-77755108 14:77288765-77288765
42 POMT2 NM_013382.5(POMT2):c.2223A>G (p.Gly741=)SNV Conflicting interpretations of pathogenicity 283477 rs554801559 14:77743749-77743749 14:77277406-77277406
43 POMT2 NM_013382.5(POMT2):c.66C>T (p.Gly22=)SNV Conflicting interpretations of pathogenicity 285150 rs200670377 14:77786959-77786959 14:77320616-77320616
44 POMT2 NM_013382.5(POMT2):c.621G>A (p.Met207Ile)SNV Uncertain significance 285222 rs551885065 14:77769213-77769213 14:77302870-77302870
45 POMT2 NM_013382.5(POMT2):c.825G>A (p.Val275=)SNV Uncertain significance 288761 rs779272258 14:77765896-77765896 14:77299553-77299553
46 POMT2 NM_013382.5(POMT2):c.2086C>A (p.Pro696Thr)SNV Uncertain significance 283989 rs76700503 14:77744798-77744798 14:77278455-77278455
47 POMT2 NM_013382.5(POMT2):c.1711C>T (p.Pro571Ser)SNV Uncertain significance 284056 rs771812476 14:77746749-77746749 14:77280406-77280406
48 POMT2 NM_013382.5(POMT2):c.1920C>T (p.Gly640=)SNV Uncertain significance 281987 rs150755807 14:77745184-77745184 14:77278841-77278841
49 POMT2 NM_013382.5(POMT2):c.1732C>T (p.Arg578Cys)SNV Uncertain significance 283109 rs148466370 14:77746417-77746417 14:77280074-77280074
50 POMT2 NM_013382.5(POMT2):c.148C>G (p.Arg50Gly)SNV Uncertain significance 211948 rs550420394 14:77786877-77786877 14:77320534-77320534

Expression for Congenital Muscular Dystrophy-Dystroglycanopathy Type A2

Search GEO for disease gene expression data for Congenital Muscular Dystrophy-Dystroglycanopathy Type A2.

Pathways for Congenital Muscular Dystrophy-Dystroglycanopathy Type A2

Pathways related to Congenital Muscular Dystrophy-Dystroglycanopathy Type A2 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.45 POMT2 POMT1 PIGV PIGM DPM3 ALG6
2
Show member pathways
12.59 POMT2 POMT1 PIGV PIGM DPM3 ALG6
3
Show member pathways
11.79 DPM3 ALG6 ALG2
4
Show member pathways
11.45 POMT2 POMT1
5
Show member pathways
11.34 DPM3 ALG6 ALG2
6
Show member pathways
11.13 PIGV PIGM DPM3
7
Show member pathways
11.02 PIGV PIGM
8 10.73 POMT2 POMT1

GO Terms for Congenital Muscular Dystrophy-Dystroglycanopathy Type A2

Cellular components related to Congenital Muscular Dystrophy-Dystroglycanopathy Type A2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 9.87 POMT2 POMT1 PIGV PIGM DPM3 ALG6
2 integral component of membrane GO:0016021 9.8 POMT2 POMT1 PIGV PIGM DPM3 ALG6
3 endoplasmic reticulum GO:0005783 9.63 POMT2 POMT1 PIGV PIGM DPM3 ALG6
4 endoplasmic reticulum membrane GO:0005789 9.17 POMT2 POMT1 PIGV PIGM DPM3 ALG6
5 mannosyltransferase complex GO:0031501 8.96 PIGV DPM3

Biological processes related to Congenital Muscular Dystrophy-Dystroglycanopathy Type A2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein O-linked glycosylation GO:0006493 9.46 POMT2 POMT1
2 preassembly of GPI anchor in ER membrane GO:0016254 9.43 PIGV PIGM
3 GPI anchor biosynthetic process GO:0006506 9.43 PIGV PIGM DPM3
4 dolichol-linked oligosaccharide biosynthetic process GO:0006488 9.4 ALG6 ALG2
5 oligosaccharide-lipid intermediate biosynthetic process GO:0006490 9.37 ALG6 ALG2
6 protein glycosylation GO:0006486 9.35 POMT2 POMT1 DPM3 ALG6 ALG2
7 protein O-linked mannosylation GO:0035269 9.33 POMT2 POMT1 DPM3
8 positive regulation of protein O-linked glycosylation GO:1904100 9.32 POMT2 POMT1
9 mannosylation GO:0097502 9.02 POMT2 POMT1 PIGV PIGM ALG2

Molecular functions related to Congenital Muscular Dystrophy-Dystroglycanopathy Type A2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transferase activity GO:0016740 9.63 POMT2 POMT1 PIGV PIGM ALG6 ALG2
2 transferase activity, transferring hexosyl groups GO:0016758 9.32 PIGM ALG6
3 dolichyl-phosphate-mannose-protein mannosyltransferase activity GO:0004169 9.26 POMT2 POMT1
4 mannosyltransferase activity GO:0000030 9.26 POMT2 POMT1 PIGV PIGM
5 transferase activity, transferring glycosyl groups GO:0016757 9.1 POMT2 POMT1 PIGV PIGM ALG6 ALG2

Sources for Congenital Muscular Dystrophy-Dystroglycanopathy Type A2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
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72 UMLS via Orphanet
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