Glycosaminoglycan metabolism

Pathway network for the Glycosaminoglycan metabolism SuperPath

Sources:
  • Reactome
  • WikiPathways

Pathways in the Glycosaminoglycan metabolism SuperPath

#NameSourceGenes
1Glycosaminoglycan metabolismReactome
2Metabolism of carbohydrates and carbohydrate derivativesReactome
(see all 299) (see less)
3Hyaluronan metabolismReactome
4Glycosaminoglycan degradationWikiPathways
5Hyaluronan degradationReactome
6MucopolysaccharidosesReactome
7Transport and metabolism of PAPSReactome
8Defective SLC26A2 causes chondrodysplasiasReactome
9MPS IIIA - Sanfilippo syndrome AReactome
10MPS VI - Maroteaux-Lamy syndromeReactome
11MPS IIID - Sanfilippo syndrome DReactome
12MPS IIIB - Sanfilippo syndrome BReactome
13MPS IV - Morquio syndrome AReactome
14MPS IIIC - Sanfilippo syndrome CReactome

Gene overlap in member pathways for Glycosaminoglycan metabolism SuperPath

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

Disorders associated with Glycosaminoglycan metabolism SuperPath

according to GeneCards Suite gene sharing
#DisorderTypeGenesScore
1Mucopolysaccharidosis-plus syndromeDirect
2Achondrogenesis, type ibDirect
3Diastrophic dysplasiaDirect
4AtelosteogenesisDirect
5Mucopolysaccharidosis iiiDirect
6Mucopolysaccharidosis, type viDirect
7Mucopolysaccharidosis ivDirect
8Glycogen storage diseaseEnrichmentAGL, G6PC1, GAA, GBE1, GYG1, GYS1, GYS2, PFKM, PYGM, SLC37A410.65
9Spondyloepiphyseal dysplasia with congenital joint dislocationsEnrichmentACAN, B3GALT6, B3GAT3, B4GALT7, CHST3, GLB110.52
10Multiple joint dislocations, short stature, and craniofacial dysmorphism with or without congenital heart defectsEnrichmentB3GAT3, B4GALT7, CHST36.01
11Larsen-like syndrome b3gat3 typeEnrichmentB3GAT3, B4GALT7, CHST36.01
12Phosphorylase kinase deficiencyEnrichmentPHKA1, PHKA2, PHKB, PHKG25.94
13Genetic steroid-resistant nephrotic syndromeEnrichmentNUP107, NUP133, NUP160, NUP205, NUP37, NUP85, NUP935.12
14Mucopolysaccharidosis, type ivaEnrichmentGALNS, IDUA4.83
15Mucopolysaccharidosis, type iiiaEnrichmentIDS, SGSH, SLC26A114.71
16Glycogen storage disease iaEnrichmentG6PC1, GAA, SLC37A44.38
17Exostoses, multiple, type iEnrichmentEXT1, EXT24.00
18Nephrolithiasis, calcium oxalate, 1EnrichmentIDUA, SLC26A14.00
19Hurler-scheie syndromeEnrichmentIDUA, SLC26A14.00
20Scheie syndromeEnrichmentIDUA, SLC26A14.00
21Ehlers-danlos syndrome, spondylodysplastic type, 2EnrichmentB3GALT6, B4GALT74.00
22HypersulfaturiaEnrichmentIDUA, SLC26A14.00
23Calcium oxalate nephrolithiasisEnrichmentIDUA, SLC26A14.00
24Simpson-golabi-behmel syndrome, type 1EnrichmentGPC3, GPC43.53
25Hurler syndromeEnrichmentIDUA, SLC26A13.53
26Musculocontractural ehlers-danlos syndromeEnrichmentCHST14, DSE3.53
27Bombay phenotypeEnrichmentFUT1, FUT23.31
28Glycogen storage disease due to liver phosphorylase kinase deficiencyEnrichmentPHKA2, PHKG23.31
29Atelosteogenesis, type iiEnrichmentSLC26A23.29
30Brachyolmia type 4 with mild epiphyseal and metaphyseal changesEnrichmentPAPSS23.29
31Epiphyseal dysplasia, multiple, 4EnrichmentSLC26A23.29
32Leukodystrophy, hypomyelinating, 26, with chondrodysplasiaEnrichmentSLC35B23.29
33BrachyolmiaEnrichmentPAPSS23.29
34Autosomal recessive brachyolmiaEnrichmentPAPSS23.29
35Primary bone dysplasia with multiple joint dislocationsEnrichmentSLC35B23.29
36Catecholaminergic polymorphic ventricular tachycardiaEnrichmentCALM1, CALM2, CALM33.26
373mc syndrome 2EnrichmentSLC26A22.99
38Lichtenstein-knorr syndromeEnrichmentSLC9A12.93
39Sandhoff diseaseEnrichmentHEXB2.93
40Mucopolysaccharidosis, type ixEnrichmentHYAL12.93
41Spastic ataxia 9, autosomal recessiveEnrichmentCHP12.93
42Muggenthaler-chowdhury-chioza syndromeEnrichmentHYAL22.93
43Cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndromeEnrichmentHYAL22.93
44Hyal2 deficiencyEnrichmentHYAL22.93
45Mucopolysaccharidosis, type iiidEnrichmentGNS2.90
46Glb1-related disordersEnrichmentGLB12.90
47Glycogen storage disease ivEnrichmentGAA, GBE12.84
48Glycogen storage disease ixdEnrichmentPHKA1, PHKG12.84
49Hemolytic disease of fetus and newborn, rh-inducedEnrichmentRHCE, RHD2.84
50Phosphoenolpyruvate carboxykinase deficiencyEnrichmentPCK1, PCK22.84
51Desbuquois dysplasia 1EnrichmentCSGALNACT1, XYLT12.84
52Pseudoxanthoma elasticumEnrichmentXYLT1, XYLT22.84
53Mucopolysaccharidosis, type viiEnrichmentGUSB2.63
54Gm2-gangliosidosis, ab variantEnrichmentHEXA2.63
55Auroneurodental syndromeEnrichmentHYAL32.63
56Mucopolysaccharidosis, type iiicEnrichmentHGSNAT2.60
57Urofacial syndrome 1EnrichmentHPSE22.60
58Mucopolysaccharidosis, type iiibEnrichmentNAGLU2.60
59Retinitis pigmentosa 73EnrichmentHGSNAT2.60
60Charcot-marie-tooth disease, axonal, type 2vEnrichmentNAGLU2.60
61Myoclonic epilepsy of lafora 1EnrichmentEPM2A, NHLRC12.55
62Familial infantile bilateral striatal necrosisEnrichmentNUP54, NUP622.55
63Tay-sachs diseaseEnrichmentHEXA2.45
64Gm1-gangliosidosis, type iEnrichmentGLB12.43
65Mucopolysaccharidosis, type ivbEnrichmentGLB12.43
66Gm1-gangliosidosis, type iiEnrichmentGLB12.43
67Mucopolysaccharidosis, type iiEnrichmentIDS2.43
68Gm1-gangliosidosis, type iiiEnrichmentGLB12.43
69Gm1 gangliosidosisEnrichmentGLB12.43
70Mucopolysaccharidosis with skin involvementEnrichmentIDS2.43
71Infantile sialic acid storage diseaseEnrichmentSLC17A52.33
72Salla diseaseEnrichmentSLC17A52.33
73OsteochondrodysplasiaEnrichmentGALNS, SLC26A22.29
74Free sialic acid storage disorderEnrichmentSLC17A52.23
75Gitelman syndromeEnrichmentIDUA2.20
76Metachromatic leukodystrophyEnrichmentARSB2.13
77DiarrheaEnrichmentSGSH2.13
78HypertrichosisEnrichmentNAGLU2.13
79Progressive familial intrahepatic cholestasisEnrichmentGLB12.06
80Hemolytic anemiaEnrichmentGPI, PKLR2.02
81Short stature and advanced bone age with or without early-onset osteoarthritis and/or osteochondritis dissecansEnrichmentACAN2.00
82Macular dystrophy, cornealEnrichmentCHST62.00
83ChondrosarcomaEnrichmentEXT12.00
84Congenital disorder of glycosylation, type iidEnrichmentB4GALT12.00
85Al-gazali syndromeEnrichmentB3GALT62.00
86Intellectual developmental disorder, autosomal recessive 12EnrichmentST3GAL32.00
87Ehlers-danlos syndrome, musculocontractural type, 2EnrichmentDSE2.00
88Ehlers-danlos syndrome, spondylodysplastic type, 1EnrichmentB4GALT72.00
89Muscular dystrophy-dystroglycanopathy , type a, 13EnrichmentB4GAT12.00
90Cornea plana 2, autosomal recessiveEnrichmentKERA2.00
91Neurofacioskeletal syndrome with or without renal agenesisEnrichmentHS2ST12.00
92Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fracturesEnrichmentB3GALT62.00
93Intellectual developmental disorder, autosomal recessive 46EnrichmentNDST12.00
94Angioedema, hereditary, 8EnrichmentHS3ST62.00
95Keipert syndromeEnrichmentGPC42.00
96Immunoskeletal dysplasia with neurodevelopmental abnormalitiesEnrichmentEXTL32.00
97Meester-loeys syndromeEnrichmentBGN2.00
98Paganini-miozzo syndromeEnrichmentHS6ST22.00
99Spondyloepimetaphyseal dysplasia, aggrecan typeEnrichmentACAN2.00
100Spondyloocular syndromeEnrichmentXYLT22.00
101Spondyloepiphyseal dysplasia, kimberley typeEnrichmentACAN2.00
102Osteochondrodysplasia, brachydactyly, and overlapping malformed digitsEnrichmentCHST112.00
103Hypogonadotropic hypogonadism 15 with or without anosmiaEnrichmentHS6ST12.00
104Hereditary multiple osteochondromasEnrichmentEXT12.00
105Skeletal dysplasia, mild, with joint laxity and advanced bone ageEnrichmentCSGALNACT12.00
106Combined low ldl and fibrinogenEnrichmentB4GALT12.00
107ExostosisEnrichmentEXT12.00
108ArteriosclerosisEnrichmentHS3ST12.00
109Spondylodysplastic ehlers-danlos syndromeEnrichmentB4GALT72.00
110Spondyloepimetaphyseal dysplasia with joint laxityEnrichmentB3GALT62.00
111Osteochondritis dissecansEnrichmentACAN2.00
112Hereditary multiple exostosesEnrichmentEXT12.00
113Xylt1-congenital disorder of glycosylationEnrichmentXYLT12.00
114Skeletal dysplasia-t-cell immunodeficiency-developmental delay syndromeEnrichmentEXTL32.00
115St3gal3-cdgEnrichmentST3GAL32.00
116Short stature-advanced bone age-early-onset osteoarthritis syndromeEnrichmentACAN2.00
117Primary bone dysplasiaEnrichmentGALNS1.90
118Ellis-van creveld syndromeEnrichmentPRKACA, PRKACB1.80
119Connective tissue diseaseEnrichmentSLC26A21.79
120Galloway-mowat syndromeEnrichmentNUP107, NUP1331.71
121Exostoses, multiple, type iiEnrichmentEXT21.70
122Wagner vitreoretinopathyEnrichmentVCAN1.70
123Spondyloepimetaphyseal dysplasia, x-linkedEnrichmentBGN1.70
124Omodysplasia 1EnrichmentGPC61.70
125Ehlers-danlos syndrome, musculocontractural type, 1EnrichmentCHST141.70
126Corneal dystrophy, congenital stromalEnrichmentDCN1.70
127Schwartz-jampel syndrome, type 1EnrichmentHSPG21.70
128Deafness, autosomal dominant 64EnrichmentB3GNT41.70
129Developmental and epileptic encephalopathy 15EnrichmentST3GAL31.70
130Seizures, scoliosis, and macrocephaly/microcephaly syndromeEnrichmentEXT21.70
131Temtamy preaxial brachydactyly syndromeEnrichmentCHSY11.70
132Wagner diseaseEnrichmentVCAN1.70
133Adenosine triphosphate, elevated, of erythrocytesEnrichmentPKLR1.66
134Blood group, rh systemEnrichmentRHD1.66
135Erythrocytosis, familial, 8EnrichmentBPGM1.66
136Glycogen storage disease viEnrichmentPYGL1.66
137Glycoprotein storage diseaseEnrichmentGAA1.66
138Glycogen storage disease vEnrichmentPYGM1.66
139D-glyceric aciduriaEnrichmentGLYCTK1.66
140Anemia, congenital, nonspherocytic hemolytic, 5EnrichmentHK11.66
141Anemia, congenital, nonspherocytic hemolytic, 2EnrichmentPKLR1.66
142Charcot-marie-tooth disease, x-linked recessive, 5EnrichmentPRPS11.66
143Phosphoenolpyruvate carboxykinase deficiency, cytosolicEnrichmentPCK11.66
144Fructose-1,6-bisphosphatase deficiencyEnrichmentFBP11.66
145Phosphoglycerate kinase 1 deficiencyEnrichmentPGK11.66
146Arts syndromeEnrichmentPRPS11.66
147Polyglucosan body neuropathy, adult formEnrichmentGBE11.66
148Stomatin-deficient cryohydrocytosis with neurologic defectsEnrichmentSLC2A11.66
149Glycogen storage disease xiiiEnrichmentENO31.66
150Glycogen storage disease ixcEnrichmentPHKG21.66
151Maturity-onset diabetes of the young, type 2EnrichmentGCK1.66
152Glycogen storage disease icEnrichmentSLC37A41.66
153Glycogen storage disease ibEnrichmentSLC37A41.66
154Fructosuria, essentialEnrichmentKHK1.66
155Galactosemia iiiEnrichmentGALE1.66
156Short stature, developmental delay, and congenital heart defectsEnrichmentTKT1.66
157Triosephosphate isomerase deficiencyEnrichmentTPI11.66
158Fucosyltransferase 6 deficiencyEnrichmentFUT61.66
159Blood group, sid systemEnrichmentB4GALNT21.66
160Retinitis pigmentosa 79EnrichmentHK11.66
161Fetal akinesia deformation sequence 4EnrichmentNUP881.66
162Neurodevelopmental disorder with achalasia, polyneuropathy, and alacrimaEnrichmentNDC11.66
163Atrial fibrillation, familial, 15EnrichmentNUP1551.66
164Sedoheptulokinase deficiencyEnrichmentSHPK1.66
165Congenital disorder of glycosylation, type iiwEnrichmentSLC37A41.66
166Dystonia 37, early-onset, with striatal lesionsEnrichmentNUP541.66
167Nephrotic syndrome, type 19EnrichmentNUP1601.66
168Myoclonic epilepsy of lafora 2EnrichmentNHLRC11.66
169Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skin abnormalitiesEnrichmentPGM2L11.66
170Blood group, lewis systemEnrichmentFUT31.66
171Phosphoribosylpyrophosphate synthetase superactivityEnrichmentPRPS11.66
172Deafness, x-linked 1EnrichmentPRPS11.66
173Galloway-mowat syndrome 8EnrichmentNUP1331.66
174Galactosemia ivEnrichmentGALM1.66
175Cardioacrofacial dysplasia 2EnrichmentPRKACB1.66
176Nephrotic syndrome, type 13EnrichmentNUP2051.66
177Leukodystrophy, childhood-onset, remittingEnrichmentFBP21.66
178PentosuriaEnrichmentDCXR1.66
179Ribose 5-phosphate isomerase deficiencyEnrichmentRPIA1.66
180Houge-janssens syndrome 2EnrichmentPPP2R1A1.66
181Hyperinsulinemic hypoglycemia, familial, 3EnrichmentGCK1.66
182Neuropathy, hereditary motor and sensory, russe typeEnrichmentHK11.66
183Microcephaly 24, primary, autosomal recessiveEnrichmentNUP371.66
184Galloway-mowat syndrome 7EnrichmentNUP1071.66
185Neurodevelopmental disorder with visual defects and brain anomaliesEnrichmentHK11.66
186Epilepsy, idiopathic generalized 12EnrichmentSLC2A11.66
187Long qt syndrome 16EnrichmentCALM31.66
188Neuronopathy, distal hereditary motor, autosomal recessive 8EnrichmentSORD1.66
189Nephrotic syndrome, type 12EnrichmentNUP931.66
190Pigmented nodular adrenocortical disease, primary, 4EnrichmentPRKACA1.66
191Anemia, congenital, nonspherocytic hemolytic, 4EnrichmentGPI1.66
192Fasting plasma glucose level quantitative trait locus 5EnrichmentGCKR1.66
193Nephrotic syndrome, type 11EnrichmentNUP1071.66
194Adult polyglucosan body diseaseEnrichmentGBE11.66
195Triokinase and fmn cyclase deficiency syndromeEnrichmentTKFC1.66
196Cardioacrofacial dysplasia 1EnrichmentPRKACA1.66
197Encephalopathy, acute, infection-induced 9EnrichmentNUP2141.66
198Sandestig-stefanova syndromeEnrichmentNUP1881.66
199Rh-null, amorph typeEnrichmentRHCE1.66
200Ovarian dysgenesis 6EnrichmentNUP1071.66
201Intellectual developmental disorder, autosomal recessive 79EnrichmentTPR1.66
202Nephrotic syndrome, type 18EnrichmentNUP1331.66
203Developmental and epileptic encephalopathy 83EnrichmentUGP21.66
204Man2b2-cdgEnrichmentMAN2B21.66
205Long qt syndrome 15EnrichmentCALM21.66
206Thrombocytopenia 13, syndromicEnrichmentGALE1.66
207Gestational diabetesEnrichmentGCK1.66
208Congenital disorder of glycosylation type 1ee with or without immunodeficiencyEnrichmentMAN2B21.66
209Congenital nonspherocytic hemolytic anemiaEnrichmentG6PD1.66
210Pompe disease, late-onsetEnrichmentGAA1.66
211Glycogen storage disease due to glucose-6-phosphatase deficiency type ibEnrichmentSLC37A41.66
212Autosomal recessive secondary polycythemia not associated with vhl geneEnrichmentBPGM1.66
213Inherited metabolic disorderEnrichmentTKFC1.66
214Epilepsy with myoclonic absencesEnrichmentSLC2A11.66
215Familial acute necrotizing encephalopathyEnrichmentRANBP21.66
216Glycogen storage disease type 1 due to slc37a4 mutationEnrichmentSLC37A41.66
217X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndromeEnrichmentPRPS11.66
218Ppp2r1a-related neurodevelopmental disorderEnrichmentPPP2R1A1.66
219Male infertility due to obstructive azoospermiaEnrichmentPGK11.66
220Hereditary cryohydrocytosis with reduced stomatinEnrichmentSLC2A11.66
221LeukodystrophyEnrichmentHEXA1.63
222Long qt syndrome 1EnrichmentCALM1, CALM2, CALM31.56
223Larsen syndromeEnrichmentCHST31.53
224Dyssegmental dysplasia, silverman-handmaker typeEnrichmentHSPG21.53
225Sudden infant death with dysgenesis of the testes syndromeEnrichmentDSE1.53
226Desbuquois dysplasia 2EnrichmentXYLT11.53
227Congenital cornea planaEnrichmentKERA1.53
228Hydrops fetalis, nonimmuneEnrichmentGUSB1.52
229Non-immune hydrops fetalisEnrichmentGUSB1.44
230Trichorhinophalangeal syndrome, type iiEnrichmentEXT11.40
231Potocki-shaffer syndromeEnrichmentEXT21.40
232Coronary artery anomalyEnrichmentHS3ST11.40
233Hereditary angioedema with normal c1inh not related to f12 or plg variantEnrichmentHS3ST61.40
234CakutEnrichmentHPSE21.38
235Maturity-onset diabetes of the young, type 1EnrichmentGCK1.36
236Glycogen storage disease 0, liverEnrichmentGYS21.36
237Galactosemia iiEnrichmentGALK11.36
238Fructose intolerance, hereditaryEnrichmentALDOB1.36
239Phosphoenolpyruvate carboxykinase deficiency, mitochondrialEnrichmentPCK21.36
240Glycogen storage disease viiEnrichmentPFKM1.36
241Camptodactyly-arthropathy-coxa vara-pericarditis syndromeEnrichmentTPR1.36
242Striatonigral degeneration, infantileEnrichmentNUP621.36
243Glycogen storage disease ixa1EnrichmentPHKA21.36
244Galactosemia iEnrichmentGALT1.36
245Dystonia 9EnrichmentSLC2A11.36
246Glut1 deficiency syndrome 1EnrichmentSLC2A11.36
247Ventricular tachycardia, catecholaminergic polymorphic, 4EnrichmentCALM11.36
248Osteogenesis imperfecta, type xvEnrichmentGBE11.36
249Diabetes mellitus, permanent neonatal, 1EnrichmentGCK1.36
250Bone marrow failure syndrome 2EnrichmentGCK1.36
251Glycogen storage disease xvEnrichmentGYG11.36
252Neutropenia, severe congenital, 4, autosomal recessiveEnrichmentG6PC31.36
253Vitamin b12 plasma level quantitative trait locus 1EnrichmentFUT21.36
254Bleeding disorder, platelet-type, 19EnrichmentPRKACG1.36
255Congenital disorder of glycosylation, type itEnrichmentPGM11.36
256Glycogen storage disease iiiEnrichmentAGL1.36
257Polyglucosan body myopathy 2EnrichmentGYG11.36
258Long qt syndrome 14EnrichmentCALM11.36
259Houge-janssens syndrome 1EnrichmentPPP2R5D1.36
260Epidermolysis bullosa, junctional 5a, intermediateEnrichmentGALK11.36
261Congenital disorder of deglycosylation 2EnrichmentMAN2C11.36
262Microcephaly 21, primary, autosomal recessiveEnrichmentGAPDH1.36
263Nephrotic syndrome, type 17EnrichmentNUP851.36
264Glucose transporter type 1 deficiency syndromeEnrichmentSLC2A11.36
265Glycogen storage disease 0, muscleEnrichmentGYS11.36
266Glycogen storage disease xiiEnrichmentALDOA1.36
267Transaldolase deficiencyEnrichmentTALDO11.36
268Fibrolamellar carcinomaEnrichmentPRKACA1.36
269Congenital hemolytic anemiaEnrichmentG6PD1.36
270Glucosephosphate dehydrogenase deficiencyEnrichmentG6PD1.36
271Glycogen storage disorder due to hepatic glycogen synthase deficiencyEnrichmentGYS21.36
272Houge-janssens syndrome 3EnrichmentPPP2CA1.36
273Severe congenital neutropenia 4EnrichmentG6PC31.36
274GalactosemiaEnrichmentGALT1.36
275Acute myeloid leukemia with t(6;9) (p23;q34.1)EnrichmentNUP2141.36
276Glycogen storage disease due to muscle and heart glycogen synthase deficiencyEnrichmentGYS11.36
277Glycogen storage disease viiiEnrichmentPHKA21.36
278Acute necrotizing encephalopathy of childhoodEnrichmentRANBP21.36
279Submucosal cleft palateEnrichmentUBB1.36
280Cleft hard palateEnrichmentUBB1.36
281Muscular dystrophy-dystroglycanopathy , type a, 1EnrichmentB4GAT11.31
282Variegate porphyriaEnrichmentB4GALT31.31
283Myasthenic syndrome, congenital, 8EnrichmentAGRN1.31
284Hereditary retinal dystrophyEnrichmentHGSNAT, SGSH1.30
285Fundus dystrophyEnrichmentHGSNAT, SGSH1.30
286Charcot-marie-tooth diseaseEnrichmentNAGLU1.30
287Congenital disorder of glycosylation, type inEnrichmentPGM1, SLC37A41.28
288Spastic ataxiaEnrichmentGLB11.19
289Mannosidosis, beta a, lysosomalEnrichmentMANBA1.19
290Nijmegen breakage syndromeEnrichmentGCK1.19
291Sengers syndromeEnrichmentTKFC1.19
292Glycogen storage disease ixbEnrichmentPHKB1.19
293Pompe disease, infantile-onsetEnrichmentGAA1.19
294Pyruvate carboxylase deficiencyEnrichmentPC1.19
295Uvula, bifidEnrichmentUBB1.19
296Methylmalonic aciduria due to methylmalonyl-coa mutase deficiencyEnrichmentMAN2B11.19
297Glut1 deficiency syndrome 2EnrichmentSLC2A11.19
298Cleft soft palateEnrichmentUBB1.19
299Ectodermal dysplasia 11b, hypohidrotic/hair/tooth type, autosomal recessiveEnrichmentRANBP21.19
300Retinitis pigmentosa 92EnrichmentHKDC11.19
301Cutis laxa, autosomal recessive, type ibEnrichmentGBE11.19
302Chromosome 17q23.1-q23.2 deletion syndromeEnrichmentSLC2A11.19
303CraniosynostosisEnrichmentGPC4, MAN2B11.15
304Ovarian cancerEnrichmentEXT1, EXT2, HMMR1.09
305Breast cancerEnrichmentHMMR1.07
306Ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessiveEnrichmentRANBP21.07
307Achalasia-addisonianism-alacrima syndromeEnrichmentAAAS1.07
308Aland island eye diseaseEnrichmentPHKA21.07
309Maturity-onset diabetes of the young, type 3EnrichmentGCK1.07
310Glycogen storage disease xEnrichmentPGAM21.07
311Ectodermal dysplasiaEnrichmentRANBP21.07
312Rare x-linked non-syndromic sensorineural deafness type dfnEnrichmentPRPS11.07
313Stickler syndromeEnrichmentVCAN1.02
314Presynaptic congenital myasthenic syndromesEnrichmentAGRN0.98
315Ectodermal dysplasia 10a, hypohidrotic/hair/nail type, autosomal dominantEnrichmentRANBP20.98
316Epidermolysis bullosa simplex 1c, localizedEnrichmentGALK10.98
317Mannosidosis, alpha b, lysosomalEnrichmentMAN2B10.98
318Anemia, congenital, nonspherocytic hemolytic, 1EnrichmentG6PD0.98
319HypoglycemiaEnrichmentG6PC10.98
320Autosomal recessive hypohidrotic ectodermal dysplasia syndromeEnrichmentRANBP20.98
321Postsynaptic congenital myasthenic syndromesEnrichmentAGRN0.94
322Chromosome 1p36 deletion syndromeEnrichmentHSPG20.91
323Hyperinsulinemic hypoglycemia, familial, 1EnrichmentGCK0.90
324Epidermolysis bullosa, junctional 1a, intermediateEnrichmentGALK10.90
325Epidermolysis bullosa, junctional 5b, with pyloric atresiaEnrichmentGALK10.90
326Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathyEnrichmentCALM10.90
327Inflammatory myofibroblastic tumorEnrichmentRANBP20.90
328Junctional epidermolysis bullosa non-herlitz typeEnrichmentGALK10.90
329Hereditary spherocytosisEnrichmentGPI0.90
330Nonsyndromic genetic hyperinsulinismEnrichmentGCK0.90
331Walker-warburg syndromeEnrichmentB4GAT10.88
332Congenital myasthenic syndromeEnrichmentAGRN0.88
333Wilms tumor 1EnrichmentGPC30.85
334Mitochondrial dna depletion syndrome 4aEnrichmentRANBP20.84
335NeutropeniaEnrichmentSLC37A40.84
336Epidermolysis bullosa simplexEnrichmentGALK10.84
337Paroxysmal dystoniaEnrichmentSLC2A10.84
338Long qt syndromeEnrichmentCALM1, CALM20.83
339Mitochondrial dna depletion syndrome 4bEnrichmentRANBP20.79
340Alternating hemiplegia of childhoodEnrichmentSLC2A10.79
341Catecholaminergic polymorphic ventricular tachycardia 1EnrichmentCALM10.79
342Permanent neonatal diabetes mellitusEnrichmentGCK0.79
343Normosmic congenital hypogonadotropic hypogonadismEnrichmentHS6ST10.78
344Orofacial cleft 1EnrichmentHKDC10.74
345Coronary heart disease 5EnrichmentG6PD0.74
346Myoclonic-atonic epilepsyEnrichmentSLC2A10.74
347Junctional epidermolysis bullosaEnrichmentGALK10.74
348HepatoblastomaEnrichmentEXT20.72
349Fetal akinesia deformation sequence 1EnrichmentGBE1, NUP880.71
350Progressive myoclonus epilepsyEnrichmentEPM2A0.70
351Kallmann syndromeEnrichmentHS6ST10.68
352Immune deficiency diseaseEnrichmentSLC37A40.66
353Diabetes mellitusEnrichmentGCK0.66
354Benign epilepsy with centrotemporal spikesEnrichmentEPM2A, SLC2A10.64
35546 xx gonadal dysgenesisEnrichmentNUP1070.63
356Retinitis pigmentosaEnrichmentHGSNAT0.63
357Centralopathic epilepsyEnrichmentEPM2A, SLC2A10.61
358Myoclonic epilepsy of unverricht and lundborgEnrichmentEPM2A0.57
359Seckel syndromeEnrichmentNUP850.57
360Complex neurodevelopmental disorderEnrichmentHS2ST1, MAN2C1, PGM2L1, PPP2CA0.53
361Creatine phosphokinase, elevated serumEnrichmentGAA0.52
362Isolated elevated serum creatine phosphokinase levelsEnrichmentGAA0.52
363Developmental and epileptic encephalopathyEnrichmentST3GAL30.52
364Sudden infant death syndromeEnrichmentCALM20.50
365Neuromuscular diseaseEnrichmentSORD0.48
366Familial thoracic aortic aneurysm and aortic dissectionEnrichmentBGN0.45
367Maturity-onset diabetes of the youngEnrichmentGCK0.44
368Focal segmental glomerulosclerosisEnrichmentNUP930.44
369Autosomal recessive non-syndromic intellectual disabilityEnrichmentNDST1, TPR0.44
370Tooth agenesisEnrichmentRANBP20.41
371Body mass index quantitative trait locus 11EnrichmentSDC30.40
372MalariaEnrichmentG6PD0.40
373Precursor t-cell acute lymphoblastic leukemiaEnrichmentNUP2140.40
374Familial atrial fibrillationEnrichmentNUP1550.38
375Developmental and epileptic encephalopathy 1EnrichmentSLC2A10.37
376StrabismusEnrichmentSLC2A10.34
377Hirschsprung disease 1EnrichmentNUP980.32
378Differentiated thyroid carcinomaEnrichmentTPR0.32
379Lung cancerEnrichmentPPP2R1B0.29
380Primary autosomal recessive microcephalyEnrichmentNUP370.29
381Leukemia, acute myeloidEnrichmentNUP2140.23
382EpilepsyEnrichmentSLC2A10.23
383MyopathyEnrichmentGAA0.23
384Type 2 diabetes mellitusEnrichmentGCK0.22
385Distal arthrogryposisEnrichmentGBE10.22
386Nephrotic syndromeEnrichmentNUP930.21
387West syndromeEnrichmentSLC2A10.20
388Congenital nervous system abnormalityEnrichmentAAAS, EPM2A0.17
389Nervous system diseaseEnrichmentAAAS, EPM2A0.17
390Primary ovarian insufficiencyEnrichmentGALT0.14
391Inherited cancer-predisposing syndromeEnrichmentEXT20.13
392MicrocephalyEnrichmentNUP188, SLC2A10.12
393Rare genetic deafnessEnrichmentGAA0.08
394Autism spectrum disorderEnrichmentHK10.04

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