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GlyCosmos Diseases

List of diseases involving glycan related genes. The information of each database of Glyco-Disease Genes Database (GDGDB) and Alliance of Genome Resources is integrated into one list.

Source	Last Updated
Alliance of Genome Resources	October 9, 2024
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **2276 - 2300** of **4649** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source ▲
DOID:0111110	maturity-onset diabetes of the young type 13 Aliases: MODY type 13 MODY13	KCNJ11	3767	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111111	maturity-onset diabetes of the young type 14 Aliases: MODY14	APPL1	26060	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111113	nephronophthisis 2 Aliases: NPH2 NPHP2 infantile nephronophthisis 2	INVS	27130	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111114	nephronophthisis 3 Aliases: NPH3 NPHP3	NPHP3	27031	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111118	nephronophthisis 11 Aliases: NPHP11	TMEM67	91147	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111122	nephronophthisis 14 Aliases: NPHP14	ZNF423	23090	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111123	nephronophthisis 15 Aliases: NPHP15	CEP164	22897	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111127	nephronophthisis 20 Aliases: NPHP20	MAPKBP1	23005	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111128	focal segmental glomerulosclerosis 1 Aliases: FSGS1	ACE ACTN1 ACTN2 ACTN4	1636 81 87 88	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111129	focal segmental glomerulosclerosis 2 Aliases: FSGS2	TRPC6	7225	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111130	focal segmental glomerulosclerosis 5 Aliases: FSGS5	INF2	64423	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111131	focal segmental glomerulosclerosis 6 Aliases: FSGS6	MYO1E	4643	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111133	focal segmental glomerulosclerosis 8 Aliases: FSGS8	ANLN	54443	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111134	focal segmental glomerulosclerosis 9 Aliases: FSGS9	CRB2	286204	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111135	congenital generalized lipodystrophy type 1 Aliases: Berardinelli-Seip Congenital Lipodystrophy, Type 1 Brunzell syndrome AGPAT2-related	AGPAT2	10555	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111136	congenital generalized lipodystrophy type 2 Aliases: Berardinelli-Seip congenital lipodystrophy type 2 Berardinelli-Seip syndrome Brunzell syndrome BSCL2-related CGL2 congenital lipoatrophic diabetes total lipodystrophy and acromegaloid gigantism	BSCL2 PPARG	26580 5468	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111138	congenital generalized lipodystrophy type 4 Aliases: Berardinelli-Seip congenital lipodystrophy type 4 with muscular dystrophy congenital generalised lipodystrophy type 4 generalised congenital lipodystrophy type 4 generalised congenital lipodystrophy with myopathy generalized congenital lipodystrophy type 4 generalized congenital lipodystrophy with myopathy	CAVIN1	284119	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111139	mitochondrial complex III deficiency	UQCRFS1	7386	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111140	IGSF1 deficiency syndrome Aliases: CHTE X-linked central congenital hypothyroidism with late-onset macroorchidism X-linked central congenital hypothyroidism with late-onset testicular enlargement central hypothyroidism and testicular enlargement	IGSF1	3547	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111141	delayed sleep phase syndrome Aliases: DSPD	CRY1	1407	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111144	preterm premature rupture of the membranes Aliases: PPROM	F3 SERPINH1 TFPI	2152 7035 871	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111149	autosomal recessive isolated ectopia lentis 2 Aliases: ECTOL2	ADAMTSL4	54507	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111150	autosomal dominant isolated ectopia lentis 1 Aliases: ECTOL1	FBN1	2200	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111151	Prinzmetal angina Aliases: Prinzmetal's angina Prinzmetal's variant angina angina inversa variant angina variant angina pectoris	ICAM1	3383	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111153	congenital mirror movement disorder Aliases: familial congenital controlateral synkinesia familial congenital mirror movements hereditary congenital controlateral synkinesia hereditary congenital mirror movements isolated congenital controlateral synkinesia isolated congenital mirror movements	DCC NTN1	1630 9423	Homo sapiens (human)	Alliance of Genome Resources

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