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GlyCosmos Diseases

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

Source	Last Updated
Alliance of Genome Resources	July 29, 2024
DisGeNET	July 29, 2024
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **6826 - 6850** of **7942** in total

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Disease ID ▼	Disease Name	Gene Symbol	Gene ID	Organism
DOID:0070124	congenital nongoitrous hypothyroidism 2 Aliases: CHNG2 congenital hypothyroidism due to thyroid dysgenesis or hypoplasia	ACHE ASAH1 B3GLCT EFNA5 ENO2 G6PD	145173 1946 2026 2539 427 43	Homo sapiens (human)
DOID:0070123	congenital nongoitrous hypothyroidism 4 Aliases: CHNG4 isolated thyrotropin deficiency	ACE ACHE ASAH1 B3GLCT EFNA5 ENO2 G6PD HJV	145173 148738 1636 1946 2026 2539 427 43	Homo sapiens (human)
DOID:0070122	Meckel syndrome 8 Aliases: MKS8 Meckel-Gruber syndrome, type 8	ACE ALG8 ALG9 ARF4 HJV PKD1 PKD2 UMOD	148738 1636 378 5310 5311 7369 79053 79796	Homo sapiens (human)
DOID:0070120	Meckel syndrome 6 Aliases: MKS6 Meckel-Gruber syndrome, type 6	ALG8 ALG9 ARF4 PKD1 PKD2 UMOD	378 5310 5311 7369 79053 79796	Homo sapiens (human)
DOID:0070119	Meckel syndrome 5 Aliases: MKS5 Meckel-Gruber syndrome, type 5	ALG8 ALG9 ARF4 PKD1 PKD2 UMOD	378 5310 5311 7369 79053 79796	Homo sapiens (human)
DOID:0070118	Meckel syndrome 4 Aliases: MKS4 Meckel-Gruber syndrome, type 4	ALG8 ALG9 ARF4 PKD1 PKD2 UMOD	378 5310 5311 7369 79053 79796	Homo sapiens (human)
DOID:0070117	Meckel syndrome 3 Aliases: MKS3 Meckel-Gruber syndrome, type 3	ALG8 ALG9 ARF4 PGD PKD1 PKD2 UMOD	378 5226 5310 5311 7369 79053 79796	Homo sapiens (human)
DOID:0070116	Meckel syndrome 2 Aliases: MKS2 Meckel-Gruber syndrome, type 2	ALG8 ALG9 ARF4 PKD1 PKD2 UMOD	378 5310 5311 7369 79053 79796	Homo sapiens (human)
DOID:0070115	Meckel syndrome 1 Aliases: MKS1 Meckel-Gruber syndrome, type 1	ALDH1A3 ALG8 ALG9 ARF4 INPP5E PKD1 PKD2 PTGDS UMOD	220 378 5310 5311 56623 5730 7369 79053 79796	Homo sapiens (human)
DOID:0070114	Niemann-Pick disease type C2 Aliases: NPC2	GBA1	2629	Homo sapiens (human)
DOID:0070113	Niemann-Pick disease type C1 Aliases: NPC1	CALR CD22 CHIT1 CPT1A FASN FCER2 FCN2 GBA1 GBA2 GNPDA2 GPC1 LGALS9 LIPA NPC1 PIK3CA SMPD1 ST3GAL5 UGCG	1118 132789 1374 2194 2208 2220 2629 2817 3965 3988 4864 5290 57704 6609 7357 811 8869 933	Homo sapiens (human)
DOID:0070113	Niemann-Pick disease type C1 Aliases: NPC1	Npc1	18145	Mus musculus (house mouse)
DOID:0070112	Niemann-Pick disease type B	asm-1 asm-2 asm-3	174131 176879 181323	Caenorhabditis elegans
DOID:0070112	Niemann-Pick disease type B	Smpd1	20597	Mus musculus (house mouse)
DOID:0070112	Niemann-Pick disease type B	CHIT1 GBA1 ICAM1 SMPD1	1118 2629 3383 6609	Homo sapiens (human)
DOID:0070111	Niemann-Pick disease type A	CHIT1 GBA1 SMPD1	1118 2629 6609	Homo sapiens (human)
DOID:0070111	Niemann-Pick disease type A	Smpd1	20597	Mus musculus (house mouse)
DOID:0070111	Niemann-Pick disease type A	asm-1 asm-2 asm-3	174131 176879 181323	Caenorhabditis elegans
DOID:0070094	oculocutaneous albinism type IA Aliases: OCA1A Oculocutaneous Albinism, Tyrosinase-Negative	CALR CANX NAGLU	4669 811 821	Homo sapiens (human)
DOID:0070086	schizophrenia 10 Aliases: SCZD10	ALPL CERK	249 64781	Homo sapiens (human)
DOID:0070077	schizophrenia 1 Aliases: SCZD1	SULT1E1	6783	Homo sapiens (human)
DOID:0070042	Coffin-Siris syndrome 1 Aliases: CSS1 MRD12 autosomal dominant mental retardation 12 fifth digit syndrome	CD14 CMAS SDHB SDHC SDHD SORD TNFRSF10C	55907 6390 6391 6392 6652 8794 929	Homo sapiens (human)
DOID:0070034	autosomal dominant intellectual developmental disorder 4 Aliases: MRD4 autosomal dominant mental retardation 4 autosomal dominant non-syndromic intellectual disability 4	ST3GAL4	6484	Homo sapiens (human)
DOID:0070030	ITM2B-related cerebral amyloid angiopathy 2 Aliases: Cerebellar Ataxia, Cataract, Deafness, and Dementia Or Psychosis FDD Familial Danish Dementia HOOE Heredopathia Ophthalmootoencephalica	GPC1	2817	Homo sapiens (human)
DOID:0070029	ITM2B-related cerebral amyloid angiopathy 1 Aliases: Cerebral Amyloid Angiopathy, British Type FBD Familial British Dementia Presenile Dementia with Spastic Ataxia	GPC1 PRNP	2817 5621	Homo sapiens (human)

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