Diseases of glycosylation

Pathway network for the Diseases of glycosylation SuperPath

Sources:

Reactome

Pathways in the Diseases of glycosylation SuperPath

#	Name	Source	Genes
1	Diseases of glycosylation	Reactome	ACAN ADAMTS1 ADAMTS10 ADAMTS12 ADAMTS13 ADAMTS14 ADAMTS15 ADAMTS16 ADAMTS17 ADAMTS18 ADAMTS19 ADAMTS2 ADAMTS20 ADAMTS3 ADAMTS4 ADAMTS5 ADAMTS6 ADAMTS7 ADAMTS8 ADAMTS9 ADAMTSL1 ADAMTSL2 ADAMTSL3 ADAMTSL4 ADAMTSL5 AGRN ALG1 ALG11 ALG12 ALG13 ALG14 ALG2 ALG3 ALG6 ALG8 ALG9 B3GALT6 B3GAT3 B3GLCT B4GALT1 B4GALT7 B4GAT1 BCAN BGN C1GALT1 C1GALT1C1 CFP CHST14 CHST3 CHST6 CHSY1 CSPG4 CSPG5 CTSA DAG1 DCN DHDDS DOLK DPAGT1 DPM1 DPM2 DPM3 EXT1 EXT2 FMOD GALE GALK1 GALM GALNT12 GALNT3 GALT GFPT1 GLB1 GNE GPC1 GPC2 GPC3 GPC4 GPC5 GPC6 HEXA HEXB HSPG2 KERA LARGE1 LFNG LUM MAN1B1 MGAT2 MOGS MPDU1 MPI MUC1 MUC12 MUC13 MUC15 MUC16 MUC17 MUC19 MUC2 MUC20 MUC21 MUC3A MUC4 MUC5AC MUC5B MUC6 MUC7 MUCL1 NCAN NEU1 NOTCH1 NOTCH2 NOTCH3 NOTCH4 NUS1 OGN OMD PAPSS2 PGM1 PMM2 POMGNT1 POMT1 POMT2 PRELP RFT1 SBSPON SDC1 SDC2 SDC3 SDC4 SEMA5A SEMA5B SLC26A2 SPON1 SPON2 SRD5A3 ST3GAL3 THBS1 THBS2 THSD1 THSD4 THSD7A THSD7B VCAN (see all 145) (see less)
2	Diseases of metabolism	Reactome	ABCA3 ABCD4 ACACA ACAN ACAT1 ACY1 ADA ADAMTS1 ADAMTS10 ADAMTS12 ADAMTS13 ADAMTS14 ADAMTS15 ADAMTS16 ADAMTS17 ADAMTS18 ADAMTS19 ADAMTS2 ADAMTS20 ADAMTS3 ADAMTS4 ADAMTS5 ADAMTS6 ADAMTS7 ADAMTS8 ADAMTS9 ADAMTSL1 ADAMTSL2 ADAMTSL3 ADAMTSL4 ADAMTSL5 AGRN AHCY ALDOB ALG1 ALG11 ALG12 ALG13 ALG14 ALG2 ALG3 ALG6 ALG8 ALG9 AMN APRT ARSB AUH B3GALT6 B3GAT3 B3GLCT B4GALT1 B4GALT7 B4GAT1 BCAN BCKDHA BCKDHB BCKDK BGN BTD C1GALT1 C1GALT1C1 CBLIF CD320 CFP CHST14 CHST3 CHST6 CHSY1 CSF2RA CSF2RB CSPG4 CSPG5 CTSA CUBN CYP11A1 CYP11B1 CYP11B2 CYP17A1 CYP19A1 CYP1B1 CYP21A2 CYP24A1 CYP26B1 CYP26C1 CYP27A1 CYP27B1 CYP2R1 CYP2U1 CYP4F22 CYP7B1 DAG1 DBT DCN DCXR DHDDS DLD DOLK DPAGT1 DPM1 DPM2 DPM3 ECHS1 EPM2A EXT1 EXT2 FDX1 FDX2 FDXR FMO3 FMOD G6PC1 G6PC3 GAA GALE GALK1 GALM GALNS GALNT12 GALNT3 GALT GBE1 GCLC GCLM GFPT1 GGT1 GLB1 GNE GNS GPC1 GPC2 GPC3 GPC4 GPC5 GPC6 GSS GUSB GYG1 GYG2 GYS1 GYS2 HEXA HEXB HGSNAT HIBCH HLCS HPRT1 HSPG2 HYAL1 IDH1 IDS IDUA IVD KERA KHK LARGE1 LCT LFNG LMBRD1 LUM MAN1B1 MAOA MAT1A MC2R MCCC1 MCCC2 MGAT2 MMAA MMAB MMACHC MMADHC MMUT MOGS MPDU1 MPI MTR MTRR MUC1 MUC12 MUC13 MUC15 MUC16 MUC17 MUC19 MUC2 MUC20 MUC21 MUC3A MUC4 MUC5AC MUC5B MUC6 MUC7 MUCL1 NAGLU NCAN NEU1 NHLRC1 NOTCH1 NOTCH2 NOTCH3 NOTCH4 NUS1 OGN OMD OPLAH PAH PAPSS2 PC PCCA PCCB PGM1 PMM2 PNP POMC POMGNT1 POMT1 POMT2 PPM1K PPP1R3C PRELP RFT1 RPIA RPS27A SBSPON SDC1 SDC2 SDC3 SDC4 SEMA5A SEMA5B SFTPA1 SFTPA2 SFTPB SFTPC SFTPD SGSH SI SLC26A2 SLC34A2 SLC35D1 SLC37A4 SPON1 SPON2 SRD5A3 ST3GAL3 TALDO1 TBXAS1 TCN2 THBS1 THBS2 THSD1 THSD4 THSD7A THSD7B TPMT UBA52 UBB UBC UGT1A1 UGT1A4 VCAN (see all 262) (see less)
3	Diseases associated with N-glycosylation of proteins	Reactome	ALG1 ALG11 ALG12 ALG13 ALG14 ALG2 ALG3 ALG6 ALG8 ALG9 B4GALT1 CTSA DPAGT1 GLB1 MAN1B1 MGAT2 MOGS MPDU1 NEU1 RFT1 (see all 20) (see less)
4	Diseases associated with glycosylation precursor biosynthesis	Reactome	DHDDS DOLK DPM1 DPM2 DPM3 GALE GALK1 GALM GALT GFPT1 GNE MPI NUS1 PGM1 PMM2 SRD5A3 (see all 16) (see less)
5	Defective NEU1 causes sialidosis	Reactome	CTSA GLB1 NEU1
6	Defective ALG14 causes ALG14-CMS	Reactome	ALG13 ALG14
7	Defective ALG8 causes CDG-1h	Reactome	ALG8
8	Defective ALG1 causes CDG-1k	Reactome	ALG1
9	Defective ALG6 causes CDG-1c	Reactome	ALG6
10	Defective ALG2 causes CDG-1i	Reactome	ALG2
11	Defective ALG11 causes CDG-1p	Reactome	ALG11
12	Defective DPAGT1 causes CDG-1j, CMSTA2	Reactome	DPAGT1
13	Defective GNE causes sialuria, NK and IBM2	Reactome	GNE
14	Defective ALG12 causes CDG-1g	Reactome	ALG12
15	Defective RFT1 causes CDG-1n	Reactome	RFT1
16	Defective MPDU1 causes CDG-1f	Reactome	MPDU1
17	Defective ALG3 causes CDG-1d	Reactome	ALG3
18	Defective ALG9 causes CDG-1l	Reactome	ALG9

Gene overlap in member pathways for Diseases of glycosylation SuperPath

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

#	Symbol	Description	Category	# Related Pathways
1	GNE	Glucosamine (UDP-N-Acetyl)-2-Epimerase/N-Acetylmannosamine Kinase	Protein Coding	4
2	ALG3	ALG3 Alpha-1,3- Mannosyltransferase	Protein Coding	4
3	DPAGT1	Dolichyl-Phosphate N-Acetylglucosaminephosphotransferase 1	Protein Coding	4
4	ALG14	ALG14 UDP-N-Acetylglucosaminyltransferase Subunit	Protein Coding	4
5	GLB1	Galactosidase Beta 1	Protein Coding	4
6	ALG6	ALG6 Alpha-1,3-Glucosyltransferase	Protein Coding	4
7	ALG11	ALG11 Alpha-1,2-Mannosyltransferase	Protein Coding	4
8	NEU1	Neuraminidase 1	Protein Coding	4
9	CTSA	Cathepsin A	Protein Coding	4
10	ALG1	ALG1 Chitobiosyldiphosphodolichol Beta-Mannosyltransferase	Protein Coding	4
11	ALG8	ALG8 Alpha-1,3-Glucosyltransferase	Protein Coding	4
12	ALG12	ALG12 Alpha-1,6-Mannosyltransferase	Protein Coding	4
13	ALG9	ALG9 Alpha-1,2-Mannosyltransferase	Protein Coding	4
14	ALG13	ALG13 UDP-N-Acetylglucosaminyltransferase Subunit	Protein Coding	4
15	ALG2	ALG2 Alpha-1,3/1,6-Mannosyltransferase	Protein Coding	4
16	RFT1	RFT1 Glycolipid Translocator Homolog	Protein Coding	4
17	MPDU1	Mannose-P-Dolichol Utilization Defect 1	Protein Coding	4
18	MAN1B1	Mannosidase Alpha Class 1B Member 1	Protein Coding	3
19	NUS1	NUS1 Dehydrodolichyl Diphosphate Synthase Subunit	Protein Coding	3
20	GALM	Galactose Mutarotase	Protein Coding	3
21	DOLK	Dolichol Kinase	Protein Coding	3
22	GALE	UDP-Galactose-4-Epimerase	Protein Coding	3
23	GALK1	Galactokinase 1	Protein Coding	3
24	GALT	Galactose-1-Phosphate Uridylyltransferase	Protein Coding	3
25	GFPT1	Glutamine--Fructose-6-Phosphate Transaminase 1	Protein Coding	3
26	B4GALT1	Beta-1,4-Galactosyltransferase 1	Protein Coding	3
27	MGAT2	Alpha-1,6-Mannosyl-Glycoprotein 2-Beta-N-Acetylglucosaminyltransferase	Protein Coding	3
28	MPI	Mannose Phosphate Isomerase	Protein Coding	3
29	PGM1	Phosphoglucomutase 1	Protein Coding	3
30	PMM2	Phosphomannomutase 2	Protein Coding	3
31	DPM3	Dolichyl-Phosphate Mannosyltransferase Subunit 3, Regulatory	Protein Coding	3
32	MOGS	Mannosyl-Oligosaccharide Glucosidase	Protein Coding	3
33	SRD5A3	Steroid 5 Alpha-Reductase 3	Protein Coding	3
34	DHDDS	Dehydrodolichyl Diphosphate Synthase Subunit	Protein Coding	3
35	DPM1	Dolichyl-Phosphate Mannosyltransferase Subunit 1, Catalytic	Protein Coding	3
36	DPM2	Dolichyl-Phosphate Mannosyltransferase Subunit 2, Regulatory	Protein Coding	3
37	MUC12	Mucin 12, Cell Surface Associated	Protein Coding	2
38	GPC6	Glypican 6	Protein Coding	2
39	SPON2	Spondin 2	Protein Coding	2
40	SPON1	Spondin 1	Protein Coding	2
41	POMT1	Protein O-Mannosyltransferase 1	Protein Coding	2
42	CSPG5	Chondroitin Sulfate Proteoglycan 5	Protein Coding	2
43	B4GAT1	Beta-1,4-Glucuronyltransferase 1	Protein Coding	2
44	KERA	Keratocan	Protein Coding	2
45	ADAMTS13	ADAM Metallopeptidase With Thrombospondin Type 1 Motif 13	Protein Coding	2
46	ADAMTS8	ADAM Metallopeptidase With Thrombospondin Type 1 Motif 8	Protein Coding	2
47	ADAMTS5	ADAM Metallopeptidase With Thrombospondin Type 1 Motif 5	Protein Coding	2
48	ADAMTS7	ADAM Metallopeptidase With Thrombospondin Type 1 Motif 7	Protein Coding	2
49	ADAMTS6	ADAM Metallopeptidase With Thrombospondin Type 1 Motif 6	Protein Coding	2
50	B4GALT7	Beta-1,4-Galactosyltransferase 7	Protein Coding	2
51	CHST14	Carbohydrate Sulfotransferase 14	Protein Coding	2
52	MUCL1	Mucin Like 1	Protein Coding	2
53	B3GALT6	Beta-1,3-Galactosyltransferase 6	Protein Coding	2
54	MUC17	Mucin 17, Cell Surface Associated	Protein Coding	2
55	ADAMTS14	ADAM Metallopeptidase With Thrombospondin Type 1 Motif 14	Protein Coding	2
56	MUC15	Mucin 15, Cell Surface Associated	Protein Coding	2
57	B3GLCT	Beta 3-Glucosyltransferase	Protein Coding	2
58	VCAN	Versican	Protein Coding	2
59	NCAN	Neurocan	Protein Coding	2
60	CSPG4	Chondroitin Sulfate Proteoglycan 4	Protein Coding	2
61	SBSPON	Somatomedin B And Thrombospondin Type 1 Domain Containing	Protein Coding	2
62	DAG1	Dystroglycan 1	Protein Coding	2
63	DCN	Decorin	Protein Coding	2
64	ADAMTS15	ADAM Metallopeptidase With Thrombospondin Type 1 Motif 15	Protein Coding	2
65	ADAMTS16	ADAM Metallopeptidase With Thrombospondin Type 1 Motif 16	Protein Coding	2
66	ADAMTS17	ADAM Metallopeptidase With Thrombospondin Type 1 Motif 17	Protein Coding	2
67	ADAMTS18	ADAM Metallopeptidase With Thrombospondin Type 1 Motif 18	Protein Coding	2
68	ADAMTS19	ADAM Metallopeptidase With Thrombospondin Type 1 Motif 19	Protein Coding	2
69	ACAN	Aggrecan	Protein Coding	2
70	SLC26A2	Solute Carrier Family 26 Member 2	Protein Coding	2
71	MUC20	Mucin 20, Cell Surface Associated	Protein Coding	2
72	EXT1	Exostosin Glycosyltransferase 1	Protein Coding	2
73	EXT2	Exostosin Glycosyltransferase 2	Protein Coding	2
74	GPC2	Glypican 2	Protein Coding	2
75	THSD7A	Thrombospondin Type 1 Domain Containing 7A	Protein Coding	2
76	GPC4	Glypican 4	Protein Coding	2
77	GPC5	Glypican 5	Protein Coding	2
78	CHSY1	Chondroitin Sulfate Synthase 1	Protein Coding	2
79	FMOD	Fibromodulin	Protein Coding	2
80	GALNT3	Polypeptide N-Acetylgalactosaminyltransferase 3	Protein Coding	2
81	B3GAT3	Beta-1,3-Glucuronyltransferase 3	Protein Coding	2
82	GPC3	Glypican 3	Protein Coding	2
83	GPC1	Glypican 1	Protein Coding	2
84	MUC19	Mucin 19, Oligomeric (Gene/Pseudogene)	Protein Coding	2
85	C1GALT1C1	C1GALT1 Specific Chaperone 1	Protein Coding	2
86	POMT2	Protein O-Mannosyltransferase 2	Protein Coding	2
87	HEXA	Hexosaminidase Subunit Alpha	Protein Coding	2
88	HEXB	Hexosaminidase Subunit Beta	Protein Coding	2
89	HSPG2	Heparan Sulfate Proteoglycan 2	Protein Coding	2
90	ADAMTSL5	ADAMTS Like 5	Protein Coding	2
91	AGRN	Agrin	Protein Coding	2
92	MUC21	Mucin 21, Cell Surface Associated	Protein Coding	2
93	LFNG	LFNG O-Fucosylpeptide 3-Beta-N-Acetylglucosaminyltransferase	Protein Coding	2
94	LUM	Lumican	Protein Coding	2
95	CHST6	Carbohydrate Sulfotransferase 6	Protein Coding	2
96	MUC1	Mucin 1, Cell Surface Associated	Protein Coding	2
97	MUC2	Mucin 2, Oligomeric Mucus/Gel-Forming	Protein Coding	2
98	MUC3A	Mucin 3A, Cell Surface Associated	Protein Coding	2
99	MUC4	Mucin 4, Cell Surface Associated	Protein Coding	2
100	MUC5AC	Mucin 5AC, Oligomeric Mucus/Gel-Forming	Protein Coding	2
101	MUC6	Mucin 6, Oligomeric Mucus/Gel-Forming (Gene/Pseudogene)	Protein Coding	2
102	MUC7	Mucin 7, Secreted	Protein Coding	2
103	NOTCH1	Notch Receptor 1	Protein Coding	2
104	NOTCH2	Notch Receptor 2	Protein Coding	2
105	NOTCH3	Notch Receptor 3	Protein Coding	2
106	NOTCH4	Notch Receptor 4	Protein Coding	2
107	OMD	Osteomodulin	Protein Coding	2
108	OGN	Osteoglycin	Protein Coding	2
109	CFP	Complement Factor Properdin	Protein Coding	2
110	SEMA5B	Semaphorin 5B	Protein Coding	2
111	ADAMTSL4	ADAMTS Like 4	Protein Coding	2
112	PRELP	Proline And Arginine Rich End Leucine Rich Repeat Protein	Protein Coding	2
113	POMGNT1	Protein O-Linked Mannose N-Acetylglucosaminyltransferase 1 (Beta 1,2-)	Protein Coding	2
114	THSD1	Thrombospondin Type 1 Domain Containing 1	Protein Coding	2
115	MUC13	Mucin 13, Cell Surface Associated	Protein Coding	2
116	C1GALT1	Core 1 Synthase, Glycoprotein-N-Acetylgalactosamine 3-Beta-Galactosyltransferase 1	Protein Coding	2
117	ADAMTS9	ADAM Metallopeptidase With Thrombospondin Type 1 Motif 9	Protein Coding	2
118	ADAMTSL3	ADAMTS Like 3	Protein Coding	2
119	BGN	Biglycan	Protein Coding	2
120	SDC1	Syndecan 1	Protein Coding	2
121	BCAN	Brevican	Protein Coding	2
122	SDC2	Syndecan 2	Protein Coding	2
123	SDC4	Syndecan 4	Protein Coding	2
124	ST3GAL3	ST3 Beta-Galactoside Alpha-2,3-Sialyltransferase 3	Protein Coding	2
125	THBS1	Thrombospondin 1	Protein Coding	2
126	THBS2	Thrombospondin 2	Protein Coding	2
127	MUC5B	Mucin 5B, Oligomeric Mucus/Gel-Forming	Protein Coding	2
128	GALNT12	Polypeptide N-Acetylgalactosaminyltransferase 12	Protein Coding	2
129	THSD4	Thrombospondin Type 1 Domain Containing 4	Protein Coding	2
130	ADAMTS20	ADAM Metallopeptidase With Thrombospondin Type 1 Motif 20	Protein Coding	2
131	THSD7B	Thrombospondin Type 1 Domain Containing 7B	Protein Coding	2
132	ADAMTS12	ADAM Metallopeptidase With Thrombospondin Type 1 Motif 12	Protein Coding	2
133	ADAMTS10	ADAM Metallopeptidase With Thrombospondin Type 1 Motif 10	Protein Coding	2
134	SEMA5A	Semaphorin 5A	Protein Coding	2
135	PAPSS2	3''-Phosphoadenosine 5''-Phosphosulfate Synthase 2	Protein Coding	2
136	LARGE1	LARGE Xylosyl- And Glucuronyltransferase 1	Protein Coding	2
137	ADAMTSL1	ADAMTS Like 1	Protein Coding	2
138	MUC16	Mucin 16, Cell Surface Associated	Protein Coding	2
139	CHST3	Carbohydrate Sulfotransferase 3	Protein Coding	2
140	ADAMTS4	ADAM Metallopeptidase With Thrombospondin Type 1 Motif 4	Protein Coding	2
141	ADAMTS3	ADAM Metallopeptidase With Thrombospondin Type 1 Motif 3	Protein Coding	2
142	ADAMTS2	ADAM Metallopeptidase With Thrombospondin Type 1 Motif 2	Protein Coding	2
143	ADAMTS1	ADAM Metallopeptidase With Thrombospondin Type 1 Motif 1	Protein Coding	2
144	SDC3	Syndecan 3	Protein Coding	2
145	ADAMTSL2	ADAMTS Like 2	Protein Coding	2
146	ADA	Adenosine Deaminase	Protein Coding	1
147	BCKDK	Branched Chain Keto Acid Dehydrogenase Kinase	Protein Coding	1
148	SLC34A2	Solute Carrier Family 34 Member 2	Protein Coding	1
149	FDX2	Ferredoxin 2	Protein Coding	1
150	CYP2U1	Cytochrome P450 Family 2 Subfamily U Member 1	Protein Coding	1
151	CYP2R1	Cytochrome P450 Family 2 Subfamily R Member 1	Protein Coding	1
152	CYP4F22	Cytochrome P450 Family 4 Subfamily F Member 22	Protein Coding	1
153	HGSNAT	Heparan-Alpha-Glucosaminide N-Acetyltransferase	Protein Coding	1
154	CSF2RA	Colony Stimulating Factor 2 Receptor Subunit Alpha	Protein Coding	1
155	CSF2RB	Colony Stimulating Factor 2 Receptor Subunit Beta	Protein Coding	1
156	PPM1K	Protein Phosphatase, Mg2+/Mn2+ Dependent 1K	Protein Coding	1
157	CYP1B1	Cytochrome P450 Family 1 Subfamily B Member 1	Protein Coding	1
158	CYP11A1	Cytochrome P450 Family 11 Subfamily A Member 1	Protein Coding	1
159	CYP11B1	Cytochrome P450 Family 11 Subfamily B Member 1	Protein Coding	1
160	CYP11B2	Cytochrome P450 Family 11 Subfamily B Member 2	Protein Coding	1
161	CYP17A1	Cytochrome P450 Family 17 Subfamily A Member 1	Protein Coding	1
162	CYP19A1	Cytochrome P450 Family 19 Subfamily A Member 1	Protein Coding	1
163	CYP21A2	Cytochrome P450 Family 21 Subfamily A Member 2	Protein Coding	1
164	CYP24A1	Cytochrome P450 Family 24 Subfamily A Member 1	Protein Coding	1
165	CYP27A1	Cytochrome P450 Family 27 Subfamily A Member 1	Protein Coding	1
166	CYP27B1	Cytochrome P450 Family 27 Subfamily B Member 1	Protein Coding	1
167	DBT	Dihydrolipoamide Branched Chain Transacylase E2	Protein Coding	1
168	MMAA	Metabolism Of Cobalamin Associated A	Protein Coding	1
169	DLD	Dihydrolipoamide Dehydrogenase	Protein Coding	1
170	ECHS1	Enoyl-CoA Hydratase, Short Chain 1	Protein Coding	1
171	AHCY	Adenosylhomocysteinase	Protein Coding	1
172	ABCA3	ATP Binding Cassette Subfamily A Member 3	Protein Coding	1
173	FDX1	Ferredoxin 1	Protein Coding	1
174	FDXR	Ferredoxin Reductase	Protein Coding	1
175	ALDOB	Aldolase, Fructose-Bisphosphate B	Protein Coding	1
176	RPIA	Ribose 5-Phosphate Isomerase A	Protein Coding	1
177	SLC35D1	Solute Carrier Family 35 Member D1	Protein Coding	1
178	FMO3	Flavin Containing Dimethylaniline Monoxygenase 3	Protein Coding	1
179	G6PC1	Glucose-6-Phosphatase Catalytic Subunit 1	Protein Coding	1
180	SLC37A4	Solute Carrier Family 37 Member 4	Protein Coding	1
181	GAA	Alpha Glucosidase	Protein Coding	1
182	GALNS	Galactosamine (N-Acetyl)-6-Sulfatase	Protein Coding	1
183	MMACHC	Metabolism Of Cobalamin Associated C	Protein Coding	1
184	HIBCH	3-Hydroxyisobutyryl-CoA Hydrolase	Protein Coding	1
185	GBE1	1,4-Alpha-Glucan Branching Enzyme 1	Protein Coding	1
186	GGT1	Gamma-Glutamyltransferase 1	Protein Coding	1
187	OPLAH	5-Oxoprolinase, ATP-Hydrolysing	Protein Coding	1
188	CBLIF	Cobalamin Binding Intrinsic Factor	Protein Coding	1
189	MMADHC	Metabolism Of Cobalamin Associated D	Protein Coding	1
190	GCLC	Glutamate-Cysteine Ligase Catalytic Subunit	Protein Coding	1
191	GCLM	Glutamate-Cysteine Ligase Modifier Subunit	Protein Coding	1
192	GNS	Glucosamine (N-Acetyl)-6-Sulfatase	Protein Coding	1
193	GSS	Glutathione Synthetase	Protein Coding	1
194	GUSB	Glucuronidase Beta	Protein Coding	1
195	GYG1	Glycogenin 1	Protein Coding	1
196	GYS1	Glycogen Synthase 1	Protein Coding	1
197	GYS2	Glycogen Synthase 2	Protein Coding	1
198	ACACA	Acetyl-CoA Carboxylase Alpha	Protein Coding	1
199	HLCS	Holocarboxylase Synthetase	Protein Coding	1
200	HPRT1	Hypoxanthine Phosphoribosyltransferase 1	Protein Coding	1
201	MMAB	Metabolism Of Cobalamin Associated B	Protein Coding	1
202	HYAL1	Hyaluronidase 1	Protein Coding	1
203	CYP26C1	Cytochrome P450 Family 26 Subfamily C Member 1	Protein Coding	1
204	IDH1	Isocitrate Dehydrogenase (NADP(+)) 1	Protein Coding	1
205	IDS	Iduronate 2-Sulfatase	Protein Coding	1
206	IDUA	Alpha-L-Iduronidase	Protein Coding	1
207	APRT	Adenine Phosphoribosyltransferase	Protein Coding	1
208	IVD	Isovaleryl-CoA Dehydrogenase	Protein Coding	1
209	NHLRC1	NHL Repeat Containing E3 Ubiquitin Protein Ligase 1	Protein Coding	1
210	KHK	Ketohexokinase	Protein Coding	1
211	ACAT1	Acetyl-CoA Acetyltransferase 1	Protein Coding	1
212	LCT	Lactase	Protein Coding	1
213	ARSB	Arylsulfatase B	Protein Coding	1
214	MAOA	Monoamine Oxidase A	Protein Coding	1
215	MAT1A	Methionine Adenosyltransferase 1A	Protein Coding	1
216	MC2R	Melanocortin 2 Receptor	Protein Coding	1
217	MTR	5-Methyltetrahydrofolate-Homocysteine Methyltransferase	Protein Coding	1
218	MTRR	5-Methyltetrahydrofolate-Homocysteine Methyltransferase Reductase	Protein Coding	1
219	MMUT	Methylmalonyl-CoA Mutase	Protein Coding	1
220	NAGLU	N-Acetyl-Alpha-Glucosaminidase	Protein Coding	1
221	PNP	Purine Nucleoside Phosphorylase	Protein Coding	1
222	PAH	Phenylalanine Hydroxylase	Protein Coding	1
223	PC	Pyruvate Carboxylase	Protein Coding	1
224	PCCA	Propionyl-CoA Carboxylase Subunit Alpha	Protein Coding	1
225	PCCB	Propionyl-CoA Carboxylase Subunit Beta	Protein Coding	1
226	DCXR	Dicarbonyl And L-Xylulose Reductase	Protein Coding	1
227	CD320	CD320 Molecule	Protein Coding	1
228	POMC	Proopiomelanocortin	Protein Coding	1
229	UGT1A4	UDP Glucuronosyltransferase Family 1 Member A4	Protein Coding	1
230	UGT1A1	UDP Glucuronosyltransferase Family 1 Member A1	Protein Coding	1
231	AUH	AU RNA Binding Methylglutaconyl-CoA Hydratase	Protein Coding	1
232	PPP1R3C	Protein Phosphatase 1 Regulatory Subunit 3C	Protein Coding	1
233	LMBRD1	LMBR1 Domain Containing 1	Protein Coding	1
234	CYP26B1	Cytochrome P450 Family 26 Subfamily B Member 1	Protein Coding	1
235	MCCC1	Methylcrotonyl-CoA Carboxylase Subunit 1	Protein Coding	1
236	ABCD4	ATP Binding Cassette Subfamily D Member 4	Protein Coding	1
237	BCKDHA	Branched Chain Keto Acid Dehydrogenase E1 Subunit Alpha	Protein Coding	1
238	BCKDHB	Branched Chain Keto Acid Dehydrogenase E1 Subunit Beta	Protein Coding	1
239	RPS27A	Ribosomal Protein S27a	Protein Coding	1
240	MCCC2	Methylcrotonyl-CoA Carboxylase Subunit 2	Protein Coding	1
241	SFTPB	Surfactant Protein B	Protein Coding	1
242	SFTPC	Surfactant Protein C	Protein Coding	1
243	SFTPD	Surfactant Protein D	Protein Coding	1
244	SGSH	N-Sulfoglucosamine Sulfohydrolase	Protein Coding	1
245	SI	Sucrase-Isomaltase	Protein Coding	1
246	SFTPA1	Surfactant Protein A1	Protein Coding	1
247	BTD	Biotinidase	Protein Coding	1
248	TALDO1	Transaldolase 1	Protein Coding	1
249	TBXAS1	Thromboxane A Synthase 1	Protein Coding	1
250	TCN2	Transcobalamin 2	Protein Coding	1
251	TPMT	Thiopurine S-Methyltransferase	Protein Coding	1
252	SFTPA2	Surfactant Protein A2	Protein Coding	1
253	UBA52	Ubiquitin A-52 Residue Ribosomal Protein Fusion Product 1	Protein Coding	1
254	UBB	Ubiquitin B	Protein Coding	1
255	UBC	Ubiquitin C	Protein Coding	1
256	EPM2A	EPM2A Glucan Phosphatase, Laforin	Protein Coding	1
257	CUBN	Cubilin	Protein Coding	1
258	AMN	Amnion Associated Transmembrane Protein	Protein Coding	1
259	GYG2	Glycogenin 2	Protein Coding	1
260	G6PC3	Glucose-6-Phosphatase Catalytic Subunit 3	Protein Coding	1
261	CYP7B1	Cytochrome P450 Family 7 Subfamily B Member 1	Protein Coding	1
262	ACY1	Aminoacylase 1	Protein Coding	1

Disorders associated with Diseases of glycosylation SuperPath

according to GeneCards Suite gene sharing

#	Disorder	Type	Genes	Score
1	Congenital disorder of glycosylation, type in	Direct
2	Lysosomal storage disease	Direct
3	Congenital myasthenic syndrome	Direct
4	Developmental and epileptic encephalopathy 36	Direct
5	Sialuria	Direct
6	Inclusion body myositis	Direct
7	Spondyloepiphyseal dysplasia with congenital joint dislocations	Enrichment	ACAN, B3GALT6, B3GAT3, B4GALT7, CHST3, GLB1	10.16
8	Glycogen storage disease	Enrichment	G6PC1, GAA, GBE1, GYG1, GYS1, GYS2, SLC37A4	9.54
9	Hereditary pulmonary alveolar proteinosis	Enrichment	ABCA3, CSF2RA, CSF2RB, SFTPB, SFTPC	8.59
10	Walker-warburg syndrome	Enrichment	B4GAT1, DAG1, LARGE1, POMGNT1, POMT1, POMT2	6.89
11	Intermediate maple syrup urine disease	Enrichment	BCKDHA, BCKDHB, DBT, PPM1K	6.87
12	Congenital myasthenic syndromes with glycosylation defect	Enrichment	ALG14, ALG2, DPAGT1, GFPT1	6.17
13	Mucopolysaccharidosis iii	Enrichment	GNS, HGSNAT, NAGLU, SGSH	5.70
14	Maple syrup urine disease, type ia	Enrichment	BCKDHA, BCKDHB, DBT	5.15
15	Multiple joint dislocations, short stature, and craniofacial dysmorphism with or without congenital heart defects	Enrichment	B3GAT3, B4GALT7, CHST3	5.15
16	Larsen-like syndrome b3gat3 type	Enrichment	B3GAT3, B4GALT7, CHST3	5.15
17	Pediatric acute respiratory distress syndrome	Enrichment	ABCA3, SFTPB, SFTPC	5.15
18	Intermittent maple syrup urine disease	Enrichment	BCKDHA, BCKDHB, DBT	5.15
19	Classic maple syrup urine disease	Enrichment	BCKDHA, BCKDHB, DBT	5.15
20	Methylmalonic aciduria and homocystinuria, cblc type	Enrichment	ABCD4, LMBRD1, MMACHC, MMADHC	5.05
21	Methylmalonic acidemia	Enrichment	MMAA, MMAB, MMACHC, MMUT	5.05
22	Interstitial lung disease 2	Enrichment	ABCA3, MUC5B, SFTPA1, SFTPA2, SFTPC	4.88
23	Primary ovarian insufficiency	Enrichment	ADAMTS1, ADAMTS6, CYP17A1, CYP19A1, GALT, NOTCH2, PMM2, THBS1	4.78
24	Muscle eye brain disease	Enrichment	LARGE1, POMGNT1, POMT1, POMT2	4.58
25	Glycogen storage disease ia	Enrichment	G6PC1, GAA, SLC37A4	4.55
26	Propionic acidemia	Enrichment	PAH, PCCA, PCCB	4.55
27	Muscular dystrophy-dystroglycanopathy , type a, 1	Enrichment	B4GAT1, POMT1, POMT2	4.16
28	Congenital muscular dystrophy with intellectual disability	Enrichment	LARGE1, POMT1, POMT2	4.16
29	Lipoid congenital adrenal hyperplasia	Enrichment	CYP11A1, CYP11B1, CYP17A1, CYP21A2	3.93
30	Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency	Enrichment	CYP11A1, CYP17A1, CYP21A2	3.86
31	Congenital muscular dystrophy with cerebellar involvement	Enrichment	POMGNT1, POMT1, POMT2	3.86
32	21-hydroxylase-deficient congenital adrenal hyperplasia	Enrichment	CYP11A1, CYP17A1, CYP21A2	3.86
33	Isolated methylmalonic acidemia	Enrichment	MMAA, MMAB, MMUT	3.63
34	Exostoses, multiple, type i	Enrichment	EXT1, EXT2	3.43
35	Dihydrolipoamide dehydrogenase deficiency	Enrichment	BCKDHB, DLD	3.43
36	Surfactant metabolism dysfunction, pulmonary, 1	Enrichment	ABCA3, SFTPB	3.43
37	Ehlers-danlos syndrome, dermatosparaxis type	Enrichment	ADAMTS2, ADAMTSL2	3.43
38	Ehlers-danlos syndrome, spondylodysplastic type, 2	Enrichment	B3GALT6, B4GALT7	3.43
39	3-methylcrotonyl-coa carboxylase deficiency	Enrichment	MCCC1, MCCC2	3.43
40	Disorders of intracellular cobalamin metabolism	Enrichment	MMACHC, MTR	3.43
41	Glycogen storage disease iv	Enrichment	GAA, GBE1	2.96
42	Homocystinuria-megaloblastic anemia, cblg type	Enrichment	MTR, MTRR	2.96
43	Methylmalonic aciduria due to methylmalonyl-coa mutase deficiency	Enrichment	MMACHC, MMUT	2.96
44	Simpson-golabi-behmel syndrome, type 1	Enrichment	GPC3, GPC4	2.96
45	Mucopolysaccharidosis, type vi	Enrichment	ARSB, GUSB	2.96
46	Vitamin d hydroxylation-deficient rickets, type 1a	Enrichment	CYP27B1, CYP2R1	2.96
47	Congenital muscular dystrophy-dystroglycanopathy type a	Enrichment	POMGNT1, POMT2	2.96
48	Homocystinuria	Enrichment	MMACHC, MTR	2.96
49	Keratoacanthoma	Enrichment	NOTCH1, NOTCH2	2.96
50	Myoclonic epilepsy of lafora 1	Enrichment	EPM2A, NHLRC1	2.66
51	Methylmalonic aciduria and homocystinuria, cbld type	Enrichment	MMACHC, MMADHC	2.66
52	Neural tube defects, folate-sensitive	Enrichment	MTR, MTRR	2.66
53	Weill-marchesani syndrome	Enrichment	ADAMTS10, ADAMTS17	2.66
54	Atypical hemolytic-uremic syndrome	Enrichment	ADAMTS13, C1GALT1C1, MMACHC	2.56
55	Non-immune hydrops fetalis	Enrichment	CTSA, GUSB, NEU1, THSD1	2.55
56	Mucopolysaccharidosis, type iva	Enrichment	GALNS, IDUA	2.45
57	Hyperaldosteronism, familial, type i	Enrichment	CYP11B1, CYP11B2	2.28
58	Mucopolysaccharidosis, type iiia	Enrichment	IDS, SGSH	2.28
59	Megaloblastic anemia	Enrichment	AMN, CUBN	2.28
60	Autosomal recessive limb-girdle muscular dystrophy	Enrichment	POMGNT1, POMT1, POMT2	2.26
61	Imerslund-grasbeck syndrome 1	Enrichment	AMN, CUBN	2.14
62	Hydrops fetalis, nonimmune	Enrichment	CTSA, GUSB, NEU1	1.87
63	Crigler-najjar syndrome, type i	Enrichment	UGT1A1, UGT1A4	1.82
64	Hyperbilirubinemia, transient familial neonatal	Enrichment	UGT1A1, UGT1A4	1.82
65	Peters-plus syndrome	Enrichment	B3GLCT, CYP1B1	1.82
66	Bilirubin, serum level of, quantitative trait locus 1	Enrichment	UGT1A1, UGT1A4	1.82
67	Crigler-najjar syndrome, type ii	Enrichment	UGT1A1, UGT1A4	1.82
68	Gilbert syndrome	Enrichment	UGT1A1, UGT1A4	1.74
69	Bilirubin metabolic disorder	Enrichment	UGT1A1, UGT1A4	1.74
70	Osteochondrodysplasia	Enrichment	GALNS, SLC26A2	1.74
71	Short stature and advanced bone age with or without early-onset osteoarthritis and/or osteochondritis dissecans	Enrichment	ACAN	1.71
72	Macular dystrophy, corneal	Enrichment	CHST6	1.71
73	Chondrosarcoma	Enrichment	EXT1	1.71
74	Diastrophic dysplasia	Enrichment	SLC26A2	1.71
75	Sucrase-isomaltase deficiency, congenital	Enrichment	SI	1.71
76	Lactase deficiency, congenital	Enrichment	LCT	1.71
77	Glycoprotein storage disease	Enrichment	GAA	1.71
78	Geleophysic dysplasia 1	Enrichment	ADAMTSL2	1.71
79	Holocarboxylase synthetase deficiency	Enrichment	HLCS	1.71
80	Methylmalonic aciduria and homocystinuria, cblf type	Enrichment	LMBRD1	1.71
81	Congenital disorder of glycosylation, type iia	Enrichment	MGAT2	1.71
82	Neuraminidase deficiency	Enrichment	NEU1	1.71
83	Pulmonary alveolar microlithiasis	Enrichment	SLC34A2	1.71
84	Glutathione synthetase deficiency	Enrichment	GSS	1.71
85	Surfactant metabolism dysfunction, pulmonary, 4	Enrichment	CSF2RA	1.71
86	Congenital disorder of glycosylation, type ib	Enrichment	MPI	1.71
87	Lethal short-limb skeletal dysplasia, al gazali type	Enrichment	ADAMTSL2	1.71
88	Polyglucosan body neuropathy, adult form	Enrichment	GBE1	1.71
89	Spondylocostal dysostosis 3, autosomal recessive	Enrichment	LFNG	1.71
90	Atelosteogenesis, type ii	Enrichment	SLC26A2	1.71
91	Congenital disorder of glycosylation, type iid	Enrichment	B4GALT1	1.71
92	Muscular dystrophy-dystroglycanopathy , type a, 6	Enrichment	LARGE1	1.71
93	Congenital disorder of glycosylation, type im	Enrichment	DOLK	1.71
94	Tubulointerstitial kidney disease, autosomal dominant 2	Enrichment	MUC1	1.71
95	Al-gazali syndrome	Enrichment	B3GALT6	1.71
96	Muscular dystrophy-dystroglycanopathy , type c, 15	Enrichment	DPM3	1.71
97	Surfactant metabolism dysfunction, pulmonary, 2	Enrichment	SFTPC	1.71
98	Thiopurines, poor metabolism of, 1	Enrichment	TPMT	1.71
99	Intellectual developmental disorder, autosomal recessive 12	Enrichment	ST3GAL3	1.71
100	Brachyolmia type 4 with mild epiphyseal and metaphyseal changes	Enrichment	PAPSS2	1.71
101	Hajdu-cheney syndrome	Enrichment	NOTCH2	1.71
102	Alagille syndrome 2	Enrichment	NOTCH2	1.71
103	Ehlers-danlos syndrome, spondylodysplastic type, 1	Enrichment	B4GALT7	1.71
104	Lateral meningocele syndrome	Enrichment	NOTCH3	1.71
105	Myasthenic syndrome, congenital, 14	Enrichment	ALG2	1.71
106	Muscular dystrophy-dystroglycanopathy , type a, 13	Enrichment	B4GAT1	1.71
107	Epiphyseal dysplasia, multiple, 4	Enrichment	SLC26A2	1.71
108	Glutathionuria	Enrichment	GGT1	1.71
109	Ghosal hematodiaphyseal dysplasia	Enrichment	TBXAS1	1.71
110	Glycogen storage disease ic	Enrichment	SLC37A4	1.71
111	Glycogen storage disease ib	Enrichment	SLC37A4	1.71
112	Muscular dystrophy-dystroglycanopathy , type a, 9	Enrichment	DAG1	1.71
113	Fructosuria, essential	Enrichment	KHK	1.71
114	Anemia, congenital, nonspherocytic hemolytic, 6	Enrichment	GSS	1.71
115	Isovaleric acidemia	Enrichment	IVD	1.71
116	Cornea plana 2, autosomal recessive	Enrichment	KERA	1.71
117	3-hydroxyisobutyryl-coa hydrolase deficiency	Enrichment	HIBCH	1.71
118	Methylmalonic aciduria, cbla type	Enrichment	MMAA	1.71
119	Galactosemia iii	Enrichment	GALE	1.71
120	Biotinidase deficiency	Enrichment	BTD	1.71
121	Mucopolysaccharidosis, type iiid	Enrichment	GNS	1.71
122	Muscular dystrophy-dystroglycanopathy , type b, 1	Enrichment	POMT1	1.71
123	Congenital disorder of glycosylation, type ih	Enrichment	ALG8	1.71
124	Congenital disorder of glycosylation, type ia	Enrichment	PMM2	1.71
125	Anemia, congenital, nonspherocytic hemolytic, 7	Enrichment	GCLC	1.71
126	Adrenal insufficiency, congenital, with 46,xy sex reversal, partial or complete	Enrichment	CYP11A1	1.71
127	Hypermethioninemia with s-adenosylhomocysteine hydrolase deficiency	Enrichment	AHCY	1.71
128	Bile acid synthesis defect, congenital, 3	Enrichment	CYP7B1	1.71
129	3-methylcrotonyl-coa carboxylase 2 deficiency	Enrichment	MCCC2	1.71
130	Cerebrotendinous xanthomatosis	Enrichment	CYP27A1	1.71
131	Congenital disorder of glycosylation, type iu	Enrichment	DPM2	1.71
132	Microcornea, myopic chorioretinal atrophy, and telecanthus	Enrichment	ADAMTS18	1.71
133	Interstitial lung disease 1	Enrichment	SFTPA1	1.71
134	Congenital disorder of glycosylation, type iaa	Enrichment	NUS1	1.71
135	Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures	Enrichment	B3GALT6	1.71
136	Muscular dystrophy-dystroglycanopathy , type b, 15	Enrichment	DPM3	1.71
137	Intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies	Enrichment	ALG14	1.71
138	Congenital disorder of glycosylation, type iiw	Enrichment	SLC37A4	1.71
139	Myoclonic epilepsy of lafora 2	Enrichment	NHLRC1	1.71
140	Maple syrup urine disease, type ii	Enrichment	DBT	1.71
141	Hennekam lymphangiectasia-lymphedema syndrome 3	Enrichment	ADAMTS3	1.71
142	Keipert syndrome	Enrichment	GPC4	1.71
143	Homocystinuria-megaloblastic anemia, cbld type	Enrichment	MMADHC	1.71
144	Gillessen-kaesbach-nishimura syndrome	Enrichment	ALG9	1.71
145	Retinitis pigmentosa 59	Enrichment	DHDDS	1.71
146	Meester-loeys syndrome	Enrichment	BGN	1.71
147	Acetyl-coa carboxylase-alpha deficiency	Enrichment	ACACA	1.71
148	Properdin deficiency, x-linked	Enrichment	CFP	1.71
149	Tn polyagglutination syndrome	Enrichment	C1GALT1C1	1.71
150	Vitamin b12 deficiency	Enrichment	AMN	1.71
151	Hemolytic uremic syndrome, atypical, 8, with rhizomelic short stature	Enrichment	C1GALT1C1	1.71
152	Sandhoff disease	Enrichment	HEXB	1.71
153	Brunner syndrome	Enrichment	MAOA	1.71
154	Galactosemia iv	Enrichment	GALM	1.71
155	Biotin deficiency	Enrichment	BTD	1.71
156	Achondrogenesis, type ib	Enrichment	SLC26A2	1.71
157	Aortic aneurysm, familial thoracic 12	Enrichment	THSD4	1.71
158	Ichthyosis, congenital, autosomal recessive 5	Enrichment	CYP4F22	1.71
159	5-oxoprolinase deficiency	Enrichment	OPLAH	1.71
160	Pentosuria	Enrichment	DCXR	1.71
161	Intrinsic factor deficiency	Enrichment	CBLIF	1.71
162	Ribose 5-phosphate isomerase deficiency	Enrichment	RPIA	1.71
163	Colorectal cancer 1	Enrichment	GALNT12	1.71
164	Muscular dystrophy-dystroglycanopathy , type b, 6	Enrichment	LARGE1	1.71
165	Spondyloepimetaphyseal dysplasia, aggrecan type	Enrichment	ACAN	1.71
166	Mucopolysaccharidosis, type ix	Enrichment	HYAL1	1.71
167	Kahrizi syndrome	Enrichment	SRD5A3	1.71
168	Congenital disorder of glycosylation, type ic	Enrichment	ALG6	1.71
169	Spondyloepiphyseal dysplasia, kimberley type	Enrichment	ACAN	1.71
170	Muscular dystrophy-dystroglycanopathy , type c, 1	Enrichment	POMT1	1.71
171	Radiohumeral fusions with other skeletal and craniofacial anomalies	Enrichment	CYP26B1	1.71
172	Surfactant metabolism dysfunction, pulmonary, 5	Enrichment	CSF2RB	1.71
173	Branched-chain keto acid dehydrogenase kinase deficiency	Enrichment	BCKDK	1.71
174	Maple syrup urine disease, mild variant	Enrichment	PPM1K	1.71
175	Focal facial dermal dysplasia 4	Enrichment	CYP26C1	1.71
176	Arthrogryposis, distal, type 12	Enrichment	ADAMTS15	1.71
177	Metaphyseal enchondromatosis with d-2-hydroxyglutaric aciduria	Enrichment	IDH1	1.71
178	Myofibromatosis, infantile, 2	Enrichment	NOTCH3	1.71
179	Congenital intrinsic factor deficiency	Enrichment	CBLIF	1.71
180	Purine nucleoside phosphorylase deficiency	Enrichment	PNP	1.71
181	Methylmalonic aciduria and homocystinuria, cblj type	Enrichment	ABCD4	1.71
182	Methylmalonic aciduria, transient, due to transcobalamin receptor defect	Enrichment	CD320	1.71
183	Muscular dystrophy-dystroglycanopathy , type c, 9	Enrichment	DAG1	1.71
184	Lymphatic malformation 13	Enrichment	THSD1	1.71
185	Brachyolmia	Enrichment	PAPSS2	1.71
186	Adult polyglucosan body disease	Enrichment	GBE1	1.71
187	Autosomal recessive brachyolmia	Enrichment	PAPSS2	1.71
188	Hereditary multiple osteochondromas	Enrichment	EXT1	1.71
189	Chronic respiratory distress with surfactant metabolism deficiency	Enrichment	SFTPC	1.71
190	Intellectual developmental disorder, autosomal dominant 55, with seizures	Enrichment	NUS1	1.71
191	Developmental delay and seizures with or without movement abnormalities	Enrichment	DHDDS	1.71
192	Combined low ldl and fibrinogen	Enrichment	B4GALT1	1.71
193	Exostosis	Enrichment	EXT1	1.71
194	Lethal occipital encephalocele-skeletal dysplasia syndrome	Enrichment	CYP26B1	1.71
195	Aneurysm, intracranial berry, 12	Enrichment	THSD1	1.71
196	Polycystic liver disease 3 with or without kidney cysts	Enrichment	ALG8	1.71
197	Methylmalonic acidemia due to transcobalamin receptor defect	Enrichment	CD320	1.71
198	Maple syrup urine disease, type ib	Enrichment	BCKDHB	1.71
199	Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies	Enrichment	ABCA3	1.71
200	Spondylodysplastic ehlers-danlos syndrome	Enrichment	B4GALT7	1.71
201	Cardiac valvular dysplasia 2	Enrichment	ADAMTS19	1.71
202	Thrombocytopenia 13, syndromic	Enrichment	GALE	1.71
203	Thrombocytopenia 12 with or without myopathy	Enrichment	GNE	1.71
204	Transient cerebral ischemia	Enrichment	NOTCH3	1.71
205	Methylmalonic aciduria, cbld type	Enrichment	MMADHC	1.71
206	Inherited isolated adrenal insufficiency due to partial cyp11a1 deficiency	Enrichment	CYP11A1	1.71
207	Cerebral arteriopathy, autosomal recessive, with subcortical infarcts and leukoencephalopathy 1	Enrichment	NOTCH3	1.71
208	Pompe disease, late-onset	Enrichment	GAA	1.71
209	Vitamin b12-responsive methylmalonic acidemia	Enrichment	MMAA	1.71
210	Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome	Enrichment	ADAMTSL1	1.71
211	Glycogen storage disease due to glucose-6-phosphatase deficiency type ib	Enrichment	SLC37A4	1.71
212	Glb1-related disorders	Enrichment	GLB1	1.71
213	Spondyloepimetaphyseal dysplasia with joint laxity	Enrichment	B3GALT6	1.71
214	Osteochondritis dissecans	Enrichment	ACAN	1.71
215	Hereditary multiple exostoses	Enrichment	EXT1	1.71
216	Homocystinuria without methylmalonic aciduria	Enrichment	MTRR	1.71
217	Muscle-eye-brain disease with bilateral multicystic leucodystrophy	Enrichment	DAG1	1.71
218	Glycogen storage disease type 1 due to slc37a4 mutation	Enrichment	SLC37A4	1.71
219	Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome	Enrichment	FDXR	1.71
220	Severe primary trimethylaminuria	Enrichment	FMO3	1.71
221	Extrinsic allergic alveolitis	Enrichment	MUC5B	1.71
222	Tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria	Enrichment	PAH	1.71
223	Cathepsin a-related arteriopathy-strokes-leukoencephalopathy	Enrichment	CTSA	1.71
224	St3gal3-cdg	Enrichment	ST3GAL3	1.71
225	Methylmalonic aciduria and homocystinuria	Enrichment	MMACHC	1.71
226	Short stature-advanced bone age-early-onset osteoarthritis syndrome	Enrichment	ACAN	1.71
227	Man1b1-congenital disorder of glycosylation	Enrichment	MAN1B1	1.71
228	Anterior segment dysgenesis	Enrichment	ADAMTS17, CYP1B1	1.48
229	Creatine phosphokinase, elevated serum	Enrichment	DAG1, GAA	1.43
230	Isolated elevated serum creatine phosphokinase levels	Enrichment	DAG1, GAA	1.43
231	Cri-du-chat syndrome	Enrichment	SEMA5A	1.42
232	Exostoses, multiple, type ii	Enrichment	EXT2	1.42
233	Wagner vitreoretinopathy	Enrichment	VCAN	1.42
234	Glaucoma 1, open angle, a	Enrichment	CYP1B1	1.42
235	Glucocorticoid deficiency 1	Enrichment	MC2R	1.42
236	Nephrolithiasis, calcium oxalate, 1	Enrichment	IDUA	1.42
237	Corticosterone methyloxidase type i deficiency	Enrichment	CYP11B2	1.42
238	Alpha-methylacetoacetic aciduria	Enrichment	ACAT1	1.42
239	Mucopolysaccharidosis, type iiic	Enrichment	HGSNAT	1.42
240	Glycogen storage disease 0, liver	Enrichment	GYS2	1.42
241	Ectopia lentis et pupillae	Enrichment	ADAMTSL4	1.42
242	Carbamoyl phosphate synthetase i deficiency, hyperammonemia due to	Enrichment	ABCA3	1.42
243	Galactosemia ii	Enrichment	GALK1	1.42
244	3-methylcrotonyl-coa carboxylase 1 deficiency	Enrichment	MCCC1	1.42
245	Methylmalonic aciduria, cblb type	Enrichment	MMAB	1.42
246	Fructose intolerance, hereditary	Enrichment	ALDOB	1.42
247	Spondyloepimetaphyseal dysplasia, x-linked	Enrichment	BGN	1.42
248	Muscular dystrophy-dystroglycanopathy , type a, 3	Enrichment	POMGNT1	1.42
249	Mucopolysaccharidosis, type iiib	Enrichment	NAGLU	1.42
250	Omodysplasia 1	Enrichment	GPC6	1.42
251	Galactosemia i	Enrichment	GALT	1.42
252	Schneckenbecken dysplasia	Enrichment	SLC35D1	1.42
253	Transcobalamin ii deficiency	Enrichment	TCN2	1.42
254	Craniosynostosis with ectopia lentis	Enrichment	ADAMTSL4	1.42
255	Panbronchiolitis, diffuse	Enrichment	MUC5B	1.42
256	3mc syndrome 2	Enrichment	SLC26A2	1.42
257	Ehlers-danlos syndrome, musculocontractural type, 1	Enrichment	CHST14	1.42
258	Thrombotic thrombocytopenic purpura, hereditary	Enrichment	ADAMTS13	1.42
259	Congenital disorder of glycosylation, type iib	Enrichment	MOGS	1.42
260	Vitamin d hydroxylation-deficient rickets, type 1b	Enrichment	CYP2R1	1.42
261	Hurler-scheie syndrome	Enrichment	IDUA	1.42
262	Corticosterone methyloxidase type ii deficiency	Enrichment	CYP11B2	1.42
263	Hypercalcemia, infantile, 1	Enrichment	CYP24A1	1.42
264	Congenital disorder of glycosylation, type ij	Enrichment	DPAGT1	1.42
265	Congenital disorder of glycosylation, type if	Enrichment	MPDU1	1.42
266	Corneal dystrophy, congenital stromal	Enrichment	DCN	1.42
267	Osteogenesis imperfecta, type xv	Enrichment	GBE1	1.42
268	Glycogen storage disease xv	Enrichment	GYG1	1.42
269	Adenine phosphoribosyltransferase deficiency	Enrichment	APRT	1.42
270	Neutropenia, severe congenital, 4, autosomal recessive	Enrichment	G6PC3	1.42
271	Myasthenic syndrome, congenital, 13	Enrichment	DPAGT1	1.42
272	Adams-oliver syndrome 5	Enrichment	NOTCH1	1.42
273	Muscular dystrophy-dystroglycanopathy , type c, 12	Enrichment	POMT1	1.42
274	Bleeding disorder, platelet-type, 19	Enrichment	GNE	1.42
275	Homocystinuria-megaloblastic anemia, cble type	Enrichment	MTRR	1.42
276	Retinitis pigmentosa 73	Enrichment	HGSNAT	1.42
277	Myasthenic syndrome, congenital, 15	Enrichment	ALG14	1.42
278	Methemoglobinemia due to deficiency of methemoglobin reductase	Enrichment	DLD	1.42
279	Methionine adenosyltransferase i/iii deficiency	Enrichment	MAT1A	1.42
280	Charcot-marie-tooth disease, axonal, type 2v	Enrichment	NAGLU	1.42
281	Neurodevelopmental disorder with spasticity, hypomyelinating leukodystrophy, and brain abnormalities	Enrichment	PAH	1.42
282	Scheie syndrome	Enrichment	IDUA	1.42
283	Congenital disorder of glycosylation, type it	Enrichment	PGM1	1.42
284	Galactosialidosis	Enrichment	CTSA	1.42
285	Mucopolysaccharidosis, type vii	Enrichment	GUSB	1.42
286	Muscular dystrophy-dystroglycanopathy , type b, 3	Enrichment	POMGNT1	1.42
287	Muscular dystrophy-dystroglycanopathy , type c, 2	Enrichment	POMT2	1.42
288	Muscular dystrophy-dystroglycanopathy , type a, 2	Enrichment	POMT2	1.42
289	Rafiq syndrome	Enrichment	MAN1B1	1.42
290	Ectopia lentis 2, isolated, autosomal recessive	Enrichment	ADAMTSL4	1.42
291	Schwartz-jampel syndrome, type 1	Enrichment	HSPG2	1.42
292	Myasthenic syndrome, congenital, 12	Enrichment	GFPT1	1.42
293	Bleeding disorder, platelet-type, 14	Enrichment	TBXAS1	1.42
294	Polyglucosan body myopathy 2	Enrichment	GYG1	1.42
295	Anterior segment dysgenesis 6	Enrichment	CYP1B1	1.42
296	Mitochondrial short-chain enoyl-coa hydratase 1 deficiency	Enrichment	ECHS1	1.42
297	Developmental and epileptic encephalopathy 15	Enrichment	ST3GAL3	1.42
298	Trimethylaminuria	Enrichment	FMO3	1.42
299	Spastic paraplegia 5a, autosomal recessive	Enrichment	CYP7B1	1.42
300	Hypersulfaturia	Enrichment	IDUA	1.42
301	Epidermolysis bullosa, junctional 5a, intermediate	Enrichment	GALK1	1.42
302	Gm2-gangliosidosis, ab variant	Enrichment	HEXA	1.42
303	Infantile myofibromatosis	Enrichment	NOTCH3	1.42
304	Congenital disorder of glycosylation, type ig	Enrichment	ALG12	1.42
305	Glycogen storage disease 0, muscle	Enrichment	GYS1	1.42
306	Muscular dystrophy-dystroglycanopathy , type b, 2	Enrichment	POMT2	1.42
307	Congenital disorder of glycosylation, type iq	Enrichment	SRD5A3	1.42
308	Transaldolase deficiency	Enrichment	TALDO1	1.42
309	Surfactant metabolism dysfunction, pulmonary, 3	Enrichment	ABCA3	1.42
310	Lipodystrophy, familial partial, type 1	Enrichment	NOTCH3	1.42
311	Seizures, scoliosis, and macrocephaly/microcephaly syndrome	Enrichment	EXT2	1.42
312	Depressive disorder	Enrichment	NOTCH3	1.42
313	Temtamy preaxial brachydactyly syndrome	Enrichment	CHSY1	1.42
314	Thrombotic thrombocytopenic purpura	Enrichment	ADAMTS13	1.42
315	Myopathy, epilepsy, and progressive cerebral atrophy	Enrichment	ALG14	1.42
316	Retinitis pigmentosa 76	Enrichment	POMGNT1	1.42
317	Calcium oxalate nephrolithiasis	Enrichment	IDUA	1.42
318	Primary trimethylaminuria	Enrichment	FMO3	1.42
319	Glycogen storage disorder due to hepatic glycogen synthase deficiency	Enrichment	GYS2	1.42
320	Congenital muscular dystrophy-dystroglycanopathy type a3	Enrichment	POMGNT1	1.42
321	Severe congenital neutropenia 4	Enrichment	G6PC3	1.42
322	Autosomal recessive infantile hypercalcemia	Enrichment	CYP24A1	1.42
323	Wagner disease	Enrichment	VCAN	1.42
324	Galactosemia	Enrichment	GALT	1.42
325	Primary congenital glaucoma	Enrichment	CYP1B1	1.42
326	Familial hypoaldosteronism	Enrichment	CYP11B2	1.42
327	Glycogen storage disease due to muscle and heart glycogen synthase deficiency	Enrichment	GYS1	1.42
328	Glycoproteinosis	Enrichment	NEU1	1.42
329	Combined deficiency of sialidase and beta galactosidase	Enrichment	CTSA	1.42
330	Dpagt1-congenital disorder of glycosylation	Enrichment	DPAGT1	1.42
331	Methionine adenosyltransferase deficiency	Enrichment	MAT1A	1.42
332	Submucosal cleft palate	Enrichment	UBB	1.42
333	Early-onset familial hypoaldosteronism	Enrichment	CYP11B2	1.42
334	Cleft hard palate	Enrichment	UBB	1.42
335	Polycystic liver disease	Enrichment	ALG8, ALG9	1.38
336	Autosomal dominant polycystic liver disease	Enrichment	ALG8, ALG9	1.38
337	Familial thoracic aortic aneurysm and aortic dissection	Enrichment	BGN, NOTCH1, THSD4	1.28
338	Congenital nervous system abnormality	Enrichment	CYP2U1, EPM2A, POMGNT1, POMT1, SRD5A3	1.26
339	Nervous system disease	Enrichment	CYP2U1, EPM2A, POMGNT1, POMT1, SRD5A3	1.26
340	Severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-negative, nk cell-negative, due to adenosine deaminase deficiency	Enrichment	ADA	1.25
341	Larsen syndrome	Enrichment	CHST3	1.25
342	Adrenal hyperplasia, congenital, due to steroid 11-beta-hydroxylase deficiency	Enrichment	CYP11B1	1.25
343	Tumoral calcinosis, hyperphosphatemic, familial, 1	Enrichment	GALNT3	1.25
344	Gm1-gangliosidosis, type i	Enrichment	GLB1	1.25
345	Mitochondrial myopathy, episodic, with or without optic atrophy and reversible leukoencephalopathy	Enrichment	FDX2	1.25
346	Mucopolysaccharidosis, type ivb	Enrichment	GLB1	1.25
347	Dyssegmental dysplasia, silverman-handmaker type	Enrichment	HSPG2	1.25
348	Adrenal hyperplasia, congenital, due to 17-alpha-hydroxylase deficiency	Enrichment	CYP17A1	1.25
349	3-methylglutaconic aciduria, type i	Enrichment	AUH	1.25
350	Gm1-gangliosidosis, type ii	Enrichment	GLB1	1.25
351	Pompe disease, infantile-onset	Enrichment	GAA	1.25
352	Pyruvate carboxylase deficiency	Enrichment	PC	1.25
353	Uvula, bifid	Enrichment	UBB	1.25
354	Wilson disease	Enrichment	ALG11	1.25
355	Mucopolysaccharidosis, type ii	Enrichment	IDS	1.25
356	Pituitary hormone deficiency, combined, 2	Enrichment	PAH	1.25
357	Lesch-nyhan syndrome	Enrichment	HPRT1	1.25
358	Spinal muscular atrophy, type iv	Enrichment	MCCC2	1.25
359	Obesity, early-onset, with adrenal insufficiency and red hair	Enrichment	POMC	1.25
360	Hyperuricemia, hprt-related	Enrichment	HPRT1	1.25
361	Cleft soft palate	Enrichment	UBB	1.25
362	Aromatase excess syndrome	Enrichment	CYP19A1	1.25
363	Nonaka myopathy	Enrichment	GNE	1.25
364	Hurler syndrome	Enrichment	IDUA	1.25
365	Muscular dystrophy-dystroglycanopathy , type c, 3	Enrichment	POMGNT1	1.25
366	Gm1-gangliosidosis, type iii	Enrichment	GLB1	1.25
367	Congenital disorder of glycosylation, type ip	Enrichment	ALG11	1.25
368	Weill-marchesani syndrome 4	Enrichment	ADAMTS17	1.25
369	Auditory neuropathy and optic atrophy	Enrichment	FDXR	1.25
370	Tay-sachs disease	Enrichment	HEXA	1.25
371	Proteinuria, chronic benign	Enrichment	CUBN	1.25
372	Ehlers-danlos syndrome, classic-like, 3	Enrichment	THBS2	1.25
373	Weill-marchesani syndrome 1	Enrichment	ADAMTS10	1.25
374	Hereditary spastic paraplegia 56	Enrichment	CYP2U1	1.25
375	Cutis laxa, autosomal recessive, type ib	Enrichment	GBE1	1.25
376	Multiple mitochondrial dysfunctions syndrome 9b	Enrichment	FDXR	1.25
377	Isolated ectopia lentis	Enrichment	ADAMTSL4	1.25
378	Hennekam syndrome	Enrichment	ADAMTS3	1.25
379	Gm1 gangliosidosis	Enrichment	GLB1	1.25
380	Migraine without aura	Enrichment	NOTCH3	1.25
381	Spastic paraplegia 56, autosomal recessive, with or without pseudoxanthoma elasticum	Enrichment	CYP2U1	1.25
382	Aromatase deficiency	Enrichment	CYP19A1	1.25
383	Deficiency of steroid 11-beta-monooxygenase	Enrichment	CYP11B1	1.25
384	3-methylglutaconic aciduria	Enrichment	AUH	1.25
385	Mucopolysaccharidosis-plus syndrome	Enrichment	IDUA	1.25
386	Geleophysic dysplasia	Enrichment	ADAMTSL2	1.25
387	Enchondromatosis	Enrichment	IDH1	1.25
388	Musculocontractural ehlers-danlos syndrome	Enrichment	CHST14	1.25
389	Mucopolysaccharidosis with skin involvement	Enrichment	IDS	1.25
390	Obesity due to pro-opiomelanocortin deficiency	Enrichment	POMC	1.25
391	Congenital cornea plana	Enrichment	KERA	1.25
392	Myocardial infarction	Enrichment	GCLC, GCLM	1.18
393	Retinitis pigmentosa 91	Enrichment	MMACHC	1.12
394	Trichorhinophalangeal syndrome, type ii	Enrichment	EXT1	1.12
395	Phenylketonuria	Enrichment	PAH	1.12
396	Down syndrome	Enrichment	MTRR	1.12
397	Potocki-shaffer syndrome	Enrichment	EXT2	1.12
398	Glaucoma 3, primary infantile, b	Enrichment	CYP1B1	1.12
399	Congenital disorder of glycosylation, type ik	Enrichment	ALG1	1.12
400	Myopathy, autophagic vacuolar, infantile-onset	Enrichment	GNE	1.12
401	Aminoacylase 1 deficiency	Enrichment	ACY1	1.12
402	Imerslund-grasbeck syndrome 2	Enrichment	AMN	1.12
403	Cerebrovascular disease	Enrichment	NOTCH3	1.12
404	Mucopolysaccharidosis iv	Enrichment	GALNS	1.12
405	Adenosine deaminase deficiency	Enrichment	ADA	1.12
406	Congenital muscular dystrophy without intellectual disability	Enrichment	POMT1	1.12
407	Muscular dystrophy	Enrichment	PMM2, POMT2	1.11
408	Auditory neuropathy	Enrichment	FDXR, NOTCH3	1.05
409	Enchondromatosis, multiple, ollier type	Enrichment	IDH1	1.03
410	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1	Enrichment	NOTCH3	1.03
411	Epidermolysis bullosa simplex 1c, localized	Enrichment	GALK1	1.03
412	Paroxysmal extreme pain disorder	Enrichment	IDH1	1.03
413	Gitelman syndrome	Enrichment	IDUA	1.03
414	Severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-positive, nk cell-negative	Enrichment	ADA	1.03
415	Congenital disorder of glycosylation, type id	Enrichment	ALG3	1.03
416	Congenital disorder of glycosylation, type il	Enrichment	ALG9	1.03
417	Liver failure, infantile, transient	Enrichment	MMUT	1.03
418	Pontocerebellar hypoplasia, type 2d	Enrichment	PCCA	1.03
419	Myasthenic syndrome, congenital, 8	Enrichment	AGRN	1.03
420	Juvenile glaucoma	Enrichment	CYP1B1	1.03
421	Hypoglycemia	Enrichment	G6PC1	1.03
422	Alg9-congenital disorder of glycosylation	Enrichment	ALG9	1.03
423	Vascular dementia	Enrichment	NOTCH3	1.03
424	Familial glucocorticoid deficiency	Enrichment	MC2R	1.03
425	Free sialic acid storage disorder	Enrichment	GNE	1.03
426	Familial cerebral saccular aneurysm	Enrichment	THSD1	1.03
427	Glaucoma, primary open angle	Enrichment	CYP1B1	0.96
428	Epidermolysis bullosa, junctional 1a, intermediate	Enrichment	GALK1	0.96
429	Hyperphenylalaninemia, bh4-deficient, a	Enrichment	PAH	0.96
430	Metachromatic leukodystrophy	Enrichment	ARSB	0.96
431	Epidermolysis bullosa, junctional 5b, with pyloric atresia	Enrichment	GALK1	0.96
432	Anterior segment dysgenesis 5	Enrichment	CYP1B1	0.96
433	Junctional epidermolysis bullosa non-herlitz type	Enrichment	GALK1	0.96
434	Pancytopenia	Enrichment	TCN2	0.96
435	Diarrhea	Enrichment	SGSH	0.96
436	Pulmonary fibrosis	Enrichment	MUC5B	0.96
437	Hypertrichosis	Enrichment	NAGLU	0.96
438	Spondylocostal dysostosis, autosomal recessive	Enrichment	LFNG	0.96
439	46,xy disorder of sex development	Enrichment	ADAMTS16	0.96
440	Connective tissue disease	Enrichment	NOTCH1, SLC26A2	0.90
441	Polycystic kidney disease 1 with or without polycystic liver disease	Enrichment	ALG9	0.89
442	Glaucoma 3, primary congenital, a	Enrichment	CYP1B1	0.89
443	Polymicrogyria, bilateral perisylvian, x-linked	Enrichment	NUS1	0.89
444	Intervertebral disc disease	Enrichment	THBS2	0.89
445	Multiple enchondromatosis, maffucci type	Enrichment	IDH1	0.89
446	Muscular dystrophy-dystroglycanopathy	Enrichment	POMGNT1	0.89
447	Adams-oliver syndrome	Enrichment	NOTCH1	0.89
448	Neutropenia	Enrichment	SLC37A4	0.89
449	Progressive familial intrahepatic cholestasis	Enrichment	GLB1	0.89
450	Polycystic kidney disease 1	Enrichment	ALG9	0.89
451	Epidermolysis bullosa simplex	Enrichment	GALK1	0.89
452	Congenital muscular dystrophy due to dystroglycanopathy	Enrichment	POMGNT1	0.89
453	Severe combined immunodeficiency	Enrichment	ADA, PNP	0.88
454	Glioma susceptibility 1	Enrichment	IDH1	0.84
455	Myopathy, tubular aggregate, 1	Enrichment	DPAGT1	0.84
456	Immunodeficiency 47	Enrichment	ALG2	0.84
457	Hypoplastic left heart syndrome	Enrichment	NOTCH1	0.84
458	Nephrotic syndrome, type 1	Enrichment	ALG1	0.79
459	Loeys-dietz syndrome	Enrichment	ABCA3	0.79
460	Bilateral perisylvian polymicrogyria	Enrichment	NUS1	0.79
461	Junctional epidermolysis bullosa	Enrichment	GALK1	0.79
462	Omenn syndrome	Enrichment	ADA	0.75
463	Stroke, ischemic	Enrichment	NOTCH3	0.75
464	Myasthenic syndrome, congenital, 4c, associated with acetylcholine receptor deficiency	Enrichment	GFPT1	0.75
465	Stickler syndrome	Enrichment	VCAN	0.75
466	Optic nerve disease	Enrichment	SRD5A3	0.75
467	Progressive myoclonus epilepsy	Enrichment	EPM2A	0.75
468	Primary bone dysplasia	Enrichment	GALNS	0.75
469	Myopathy	Enrichment	DPM3, GAA	0.74
470	Migraine with or without aura 1	Enrichment	NOTCH3	0.71
471	Immune deficiency disease	Enrichment	SLC37A4	0.71
472	Asthma	Enrichment	MUC7	0.71
473	Diabetes mellitus	Enrichment	PMM2	0.71
474	Mitochondrial myopathy	Enrichment	FDX2	0.71
475	Presynaptic congenital myasthenic syndromes	Enrichment	AGRN	0.71
476	Hereditary spastic paraplegia	Enrichment	CYP2U1, CYP7B1	0.71
477	Lactic acidosis	Enrichment	DLD	0.68
478	Postsynaptic congenital myasthenic syndromes	Enrichment	AGRN	0.68
479	Aortic valve disease 1	Enrichment	NOTCH1	0.65
480	Pulmonary hypertension, primary, 1	Enrichment	PAH	0.65
481	Pulmonary disease, chronic obstructive	Enrichment	CYP2R1	0.65
482	Chromosome 1p36 deletion syndrome	Enrichment	HSPG2	0.65
483	Chronic kidney disease	Enrichment	CUBN	0.65
484	Thrombocytopenia	Enrichment	ADAMTS13, GNE	0.63
485	Multiple sclerosis	Enrichment	CYP27B1	0.62
486	Myoclonic epilepsy of unverricht and lundborg	Enrichment	EPM2A	0.62
487	Aortic aneurysm, familial thoracic 1	Enrichment	NOTCH1	0.62
488	Body mass index quantitative trait locus 11	Enrichment	POMC, SDC3	0.60
489	Wilms tumor 1	Enrichment	GPC3	0.60
490	Hydrocephalus	Enrichment	POMGNT1	0.60
491	Autosomal recessive congenital ichthyosis	Enrichment	CYP4F22	0.60
492	Lynch syndrome	Enrichment	GNE	0.60
493	Autosomal dominant polycystic kidney disease	Enrichment	ALG9	0.60
494	Rare genetic intellectual disability	Enrichment	ALG13	0.60
495	Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay	Enrichment	PMM2	0.57
496	Hydrocephalus, congenital, 1	Enrichment	POMT1	0.57
497	Gliosarcoma	Enrichment	IDH1	0.57
498	Spastic ataxia	Enrichment	CYP7B1, GLB1	0.56
499	Giant cell glioblastoma	Enrichment	IDH1	0.55
500	Undetermined early-onset epileptic encephalopathy	Enrichment	DHDDS, NUS1	0.53
501	Ovarian cancer	Enrichment	EXT1, EXT2, MUC16	0.51
502	Congenital myopathy	Enrichment	ALG14	0.51
503	Ehlers-danlos syndrome	Enrichment	THBS2	0.51
504	Leukodystrophy	Enrichment	HEXA	0.49
505	Craniosynostosis	Enrichment	GPC4	0.49
506	Focal segmental glomerulosclerosis	Enrichment	PMM2	0.49
507	Hepatoblastoma	Enrichment	EXT2	0.47
508	Cone dystrophy	Enrichment	SRD5A3	0.43
509	Tetralogy of fallot	Enrichment	NOTCH1	0.40
510	Rasopathy	Enrichment	PAH	0.40
511	Breast cancer	Enrichment	CYP17A1, PAH	0.37
512	Severe covid-19	Enrichment	MUC5B	0.36
513	Cystic fibrosis	Enrichment	GCLC	0.33
514	Nephronophthisis	Enrichment	ADAMTS9	0.32
515	Hereditary retinal dystrophy	Enrichment	DHDDS, HGSNAT, MMACHC, POMGNT1, SGSH, VCAN	0.31
516	Fundus dystrophy	Enrichment	DHDDS, HGSNAT, MMACHC, POMGNT1, SGSH, VCAN	0.31
517	Non-syndromic x-linked intellectual disability	Enrichment	ALG13	0.30
518	Developmental and epileptic encephalopathy	Enrichment	ST3GAL3	0.30
519	Fetal akinesia deformation sequence 1	Enrichment	GBE1	0.29
520	Cerebral palsy	Enrichment	PMM2	0.27
521	Leukemia, acute myeloid	Enrichment	IDH1	0.27
522	Epilepsy	Enrichment	MTR	0.27
523	Charcot-marie-tooth disease	Enrichment	NAGLU	0.26
524	Benign epilepsy with centrotemporal spikes	Enrichment	EPM2A	0.26
525	Distal arthrogryposis	Enrichment	GBE1	0.25
526	Centralopathic epilepsy	Enrichment	EPM2A	0.25
527	Retinitis pigmentosa	Enrichment	DHDDS, HGSNAT, LARGE1, POMGNT1	0.23
528	Autism spectrum disorder	Enrichment	CUBN, MCCC2	0.20
529	Familial isolated dilated cardiomyopathy	Enrichment	DOLK	0.19
530	Hereditary breast ovarian cancer syndrome	Enrichment	SLC34A2	0.18
531	Autosomal recessive non-syndromic intellectual disability	Enrichment	MAN1B1	0.17
532	Leigh syndrome, nuclear	Enrichment	ECHS1	0.13
533	Autism	Enrichment	SRD5A3	0.12
534	Leigh disease	Enrichment	ECHS1	0.11
535	Rare genetic deafness	Enrichment	GAA	0.10
536	Microcephaly	Enrichment	ALG13	0.04
537	Inherited cancer-predisposing syndrome	Enrichment	EXT2	0.03

¹ WikiPathways

² PubChem

³ R&D Systems

⁴ Reactome

⁵ GeneGo (Thomson Reuters)

⁶ QIAGEN

⁷ PharmGKB

⁸ Cell Signaling Technology

⁹ Sino Biological

¹⁰ Tocris

¹¹ MalaCards

Diseases of glycosylation

Pathway Network for Diseases of glycosylation

Pathway network for the Diseases of glycosylation SuperPath

Member Pathways for Diseases of glycosylation

Pathways in the Diseases of glycosylation SuperPath

Gene overlap in member pathways for Diseases of glycosylation SuperPath

Associated Genes for Diseases of glycosylation

Associated Disorders for Diseases of glycosylation

Disorders associated with Diseases of glycosylation SuperPath

STRING Interaction Network for Diseases of glycosylation

Sources for Diseases of glycosylation