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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	January 28, 2025
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **1001 - 1025** of **5716** in total

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Disease ID ▲	Disease Name	Gene Symbol	Gene ID	Organism	Source
DOID:0070063	autosomal dominant intellectual developmental disorder 33 Aliases: MRD33 autosomal dominant mental retardation 33 autosomal dominant non-syndromic intellectual disability 33	DPP6	1804	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070065	autosomal dominant intellectual developmental disorder 35 Aliases: MRD35 autosomal dominant mental retardation 35 autosomal dominant non-syndromic intellectual disability 35	PPP2R5D	5528	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070066	autosomal dominant intellectual developmental disorder 36 Aliases: MRD36 autosomal dominant mental retardation 36 autosomal dominant non-syndromic intellectual disability 36	PPP2R1A	5518	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070067	White-Sutton syndrome Aliases: MRD37 WHSUS autosomal dominant mental retardation 37	POGZ	23126	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070068	autosomal dominant intellectual developmental disorder 38 Aliases: MRD38 PRELDS autosomal dominant mental retardation 38 autosomal dominant non-syndromic intellectual disability 38 psychomotor retardation, epilepsy, and language disability syndrome	EEF1A2	1917	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070068	autosomal dominant intellectual developmental disorder 38 Aliases: MRD38 PRELDS autosomal dominant mental retardation 38 autosomal dominant non-syndromic intellectual disability 38 psychomotor retardation, epilepsy, and language disability syndrome	Eef1a2	13628	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070069	autosomal dominant intellectual developmental disorder 39 Aliases: MRD39 autosomal dominant mental retardation 39 autosomal dominant non-syndromic intellectual disability 39	Myt1l	17933	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070070	autosomal dominant intellectual developmental disorder 40 Aliases: MRD40 autosomal dominant mental retardation 40 autosomal dominant non-syndromic intellectual disability 40	CHAMP1	283489	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070072	autosomal dominant intellectual developmental disorder 42 Aliases: MRD42 autosomal dominant mental retardation 42 autosomal dominant non-syndromic intellectual disability 42	GNB1	2782	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070073	autosomal dominant intellectual developmental disorder 43 Aliases: MRD43 autosomal dominant mental retardation 43 autosomal dominant non-syndromic intellectual disability 43	HIVEP2	3097	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070074	autosomal dominant intellectual developmental disorder 44 Aliases: MRD44 autosomal dominant intellectual developmental disorder 44 with microcephaly autosomal dominant mental retardation 44 autosomal dominant non-syndromic intellectual disability 44	TRIO	7204	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070082	schizophrenia 6 Aliases: SCZD6	NRG1	3084	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070093	schizophrenia 18 Aliases: Chromosome 7q36.3 Duplication Syndrome, 362-Kb SCZD18	SLC1A1	6505	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070094	oculocutaneous albinism type IA Aliases: OCA1A Oculocutaneous Albinism, Tyrosinase-Negative	TYR	7299	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070095	oculocutaneous albinism type IB Aliases: Albinism, Yellow Mutant Type OCA1B	TYR	7299	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070096	oculocutaneous albinism type II Aliases: OCA2 Oculocutaneous Albinism, Tyrosinase-Positive	MC1R OCA2	4157 4948	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070097	oculocutaneous albinism type III Aliases: OCA3 Rufous Oculocutaneous Albinism	TYRP1	7306	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070098	oculocutaneous albinism type IV Aliases: OCA4	SLC45A2	51151	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070111	Niemann-Pick disease type A	SMPD1	6609	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0070112	Niemann-Pick disease type B	SMPD1	6609	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0070113	Niemann-Pick disease type C1 Aliases: NPC1	Npc1	18145	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070113	Niemann-Pick disease type C1 Aliases: NPC1	NCR1	856101	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0070113	Niemann-Pick disease type C1 Aliases: NPC1	NPC1	4864	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0070114	Niemann-Pick disease type C2 Aliases: NPC2	NPC2	10577	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0070117	Meckel syndrome 3 Aliases: MKS3 Meckel-Gruber syndrome, type 3	TMEM67	91147	Homo sapiens (human)	Alliance of Genome Resources

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