Glycosylation and related congenital defects

Pathway network for the Glycosylation and related congenital defects SuperPath

Sources:
  • WikiPathways
  • PubChem

Ordered by rank within the SuperPath, via the multiplicity of each gene in the constituent pathways

Disorders associated with Glycosylation and related congenital defects SuperPath

according to GeneCards Suite gene sharing
#DisorderTypeGenesScore
1Congenital disorder of glycosylation, type inEnrichmentALG1, ALG13, ALG3, DPAGT1, MAGT1, PMM2, SRD5A310.74
2Developmental and epileptic encephalopathy 36EnrichmentALG1, ALG13, DPM1, PMM29.82
3Congenital myasthenic syndromes with glycosylation defectEnrichmentALG14, ALG2, DPAGT1, GMPPB8.87
4Autosomal dominant polycystic kidney diseaseEnrichmentALG5, ALG9, GANAB4.53
5Polycystic liver diseaseEnrichmentALG8, ALG9, GANAB4.36
6Autosomal dominant polycystic liver diseaseEnrichmentALG8, ALG9, GANAB4.36
7Muscular dystrophyEnrichmentGMPPB, PMM23.09
8Muscular dystrophy-dystroglycanopathy , type c, 15EnrichmentDPM32.79
9Myasthenic syndrome, congenital, 14EnrichmentALG22.79
10Congenital disorder of glycosylation, type iw, autosomal recessiveEnrichmentSTT3A2.79
11Congenital disorder of glycosylation, type ihEnrichmentALG82.79
12Congenital disorder of glycosylation, type iuEnrichmentDPM22.79
13Muscular dystrophy-dystroglycanopathy , type b, 15EnrichmentDPM32.79
14Polycystic kidney disease 7EnrichmentALG52.79
15Gillessen-kaesbach-nishimura syndromeEnrichmentALG92.79
16Congenital disorder of glycosylation, type icEnrichmentALG62.79
17Congenital disorder of glycosylation, type irEnrichmentDDOST2.79
18Polycystic liver disease 3 with or without kidney cystsEnrichmentALG82.79
19Congenital disorder of glycosylation iwEnrichmentSTT3A2.79
20Congenital disorder of glycosylation, type iiaEnrichmentMGAT22.75
21Congenital disorder of glycosylation, type ibEnrichmentMPI2.75
22Congenital disorder of glycosylation, type iidEnrichmentB4GALT12.75
23Congenital disorder of glycosylation, type imEnrichmentDOLK2.75
24Intellectual developmental disorder, autosomal recessive 7EnrichmentTUSC32.75
25Congenital disorder of glycosylation, type iaEnrichmentPMM22.75
26Congenital disorder of glycosylation, type iccEnrichmentMAGT12.75
27Kahrizi syndromeEnrichmentSRD5A32.75
28Combined low ldl and fibrinogenEnrichmentB4GALT12.75
29Congenital disorder of glycosylation, type ijEnrichmentDPAGT12.49
30Myasthenic syndrome, congenital, 13EnrichmentDPAGT12.49
31Congenital disorder of glycosylation, type ixEnrichmentSTT3B2.49
32Congenital disorder of glycosylation, type igEnrichmentALG122.49
33Congenital disorder of glycosylation, type iw, autosomal dominantEnrichmentSTT3A2.49
34Acute myeloid leukemia with inv(3)(q21q26.2) or t(3;3)(q21;q26.2)EnrichmentRPN12.49
35Dpagt1-congenital disorder of glycosylationEnrichmentDPAGT12.49
36Immunodeficiency, x-linked, with magnesium defect, epstein-barr virus infection, and neoplasiaEnrichmentMAGT12.45
37Congenital disorder of glycosylation, type iibEnrichmentMOGS2.45
38Congenital disorder of glycosylation, type ifEnrichmentMPDU12.45
39Muscular dystrophy-dystroglycanopathy , type a, 14EnrichmentGMPPB2.45
40Muscular dystrophy-dystroglycanopathy , type b, 14EnrichmentGMPPB2.45
41Muscular dystrophy-dystroglycanopathy , type c, 14EnrichmentGMPPB2.45
42Congenital disorder of glycosylation, type iqEnrichmentSRD5A32.45
43Intellectual developmental disorder, autosomal recessive 24EnrichmentTUSC32.45
44Congenital muscular dystrophy-dystroglycanopathy type a14EnrichmentGMPPB2.45
45Intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse faciesEnrichmentALG142.38
46Anemia, congenital, nonspherocytic hemolytic, 4EnrichmentGPI2.38
47Man1b1-congenital disorder of glycosylationEnrichmentMAN1B12.38
48Wilson diseaseEnrichmentALG112.31
49Congenital disorder of glycosylation, type ipEnrichmentALG112.31
50Congenital disorder of glycosylation, type ikEnrichmentALG12.19
51Congenital disorder of glycosylation, type idEnrichmentALG32.09
52Congenital disorder of glycosylation, type ilEnrichmentALG92.09
53Alg9-congenital disorder of glycosylationEnrichmentALG92.09
54Chromosomal instability with tissue-specific radiosensitivityEnrichmentGMPPA2.08
55Myasthenic syndrome, congenital, 15EnrichmentALG142.08
56Rafiq syndromeEnrichmentMAN1B12.08
57Alacrima, achalasia, and impaired intellectual development syndromeEnrichmentGMPPA2.08
58Congenital disorder of glycosylation with defective fucosylation 1EnrichmentFUT82.08
59Syndromic x-linked intellectual disability 17EnrichmentGMPPA2.08
60Myopathy, epilepsy, and progressive cerebral atrophyEnrichmentALG142.08
61Polycystic kidney disease 3EnrichmentGANAB2.08
62Congenital muscular dystrophy with intellectual disabilityEnrichmentGMPPB2.05
63Congenital muscular dystrophy with cerebellar involvementEnrichmentGMPPB1.98
64Polycystic kidney disease 1 with or without polycystic liver diseaseEnrichmentALG91.95
65Polycystic kidney disease 1EnrichmentALG91.95
66Muscular dystrophy-dystroglycanopathyEnrichmentGMPPB1.91
67Congenital muscular dystrophy due to dystroglycanopathyEnrichmentGMPPB1.91
68Myopathy, tubular aggregate, 1EnrichmentDPAGT11.89
69Immunodeficiency 47EnrichmentALG21.89
70Nephrotic syndrome, type 1EnrichmentALG11.84
71Congenital nervous system abnormalityEnrichmentSRD5A3, TUSC31.83
72Nervous system diseaseEnrichmentSRD5A3, TUSC31.83
73Achalasia-addisonianism-alacrima syndromeEnrichmentGMPPA1.78
74Long qt syndrome 2EnrichmentALG10B1.78
75Optic nerve diseaseEnrichmentSRD5A31.76
76Muscle eye brain diseaseEnrichmentGMPPB1.76
77Diabetes mellitusEnrichmentPMM21.71
78Variegate porphyriaEnrichmentB4GALT31.69
79Polycystic kidney disease 3 with or without polycystic liver diseaseEnrichmentGANAB1.69
80Autosomal recessive non-syndromic intellectual disabilityEnrichmentMAN1B1, TUSC31.62
81Rare genetic intellectual disabilityEnrichmentALG131.62
82Hereditary spherocytosisEnrichmentGPI1.61
83Creatine phosphokinase, elevated serumEnrichmentGMPPB1.55
84Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delayEnrichmentPMM21.55
85Isolated elevated serum creatine phosphokinase levelsEnrichmentGMPPB1.55
86Hemolytic anemiaEnrichmentGPI1.54
87Focal segmental glomerulosclerosisEnrichmentPMM21.46
88Cone dystrophyEnrichmentSRD5A31.38
89Non-syndromic x-linked intellectual disabilityEnrichmentALG131.25
90MyopathyEnrichmentDPM31.20
91Cerebral palsyEnrichmentPMM21.18
92Congenital myopathyEnrichmentALG141.12
93Familial isolated dilated cardiomyopathyEnrichmentDOLK1.05
94Primary ovarian insufficiencyEnrichmentPMM21.00
95AutismEnrichmentSRD5A30.92
96MicrocephalyEnrichmentALG130.74

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