GlyCosmos Portal

Table Filtering

Disease ID

Disease Name

Gene Symbol

Gene ID

Organism

Source

Display
results per page.

Clear

Submissions

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 **4276 - 4300** of **5716** in total

« First

‹ Prev

…

168

169

170

171

172

173

174

175

176

…

Next ›

Last »
Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source ▼
DOID:0080235	autosomal dominant intellectual developmental disorder 48 Aliases: autosomal dominant mental retardation 48	RAC1	5879	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080234	Clark-Baraitser syndrome Aliases: Baraitser syndrome CLABARS autosomal dominant intellectual disability 49 autosomal dominant mental retardation 49	TRIP12	9320	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080233	autosomal dominant intellectual developmental disorder 50 Aliases: autosomal dominant intellectual developmental disorder-50 with behavioral abnormalities autosomal dominant mental retardation 50	NAA15	80155	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080232	autosomal dominant intellectual developmental disorder 51 Aliases: autosomal dominant mental retardation 51	KMT5B	51111	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080231	autosomal dominant intellectual developmental disorder 52 Aliases: autosomal dominant mental retardation 52	ASH1L	55870	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080230	autosomal dominant intellectual developmental disorder 54 Aliases: autosomal dominant mental retardation 54	CAMK2B	816	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080228	autosomal dominant intellectual developmental disorder 53 Aliases: autosomal dominant mental retardation 53	CAMK2A	815	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080227	autosomal dominant intellectual developmental disorder 55 Aliases: autosomal dominant intellectual developmental disorder-55 with seizures autosomal dominant mental retardation 55	NUS1	116150	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080226	autosomal dominant intellectual developmental disorder 56 Aliases: autosomal dominant intellectual developmental disorder-56 autosomal dominant mental retardation 56	CLTC	1213	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080224	autosomal dominant dystrophic epidermolysis bullosa	COL7A1	1294	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080222	pseudohypoparathyroidism type 1B Aliases: PHP Ib	GNAS	2778	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080219	dystransthyretinemic hyperthyroxinemia	TTR	7276	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080218	primary spontaneous pneumothorax	FLCN	201163	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080217	lysosomal acid lipase deficiency Aliases: LAL deficiency LAL-D	Lipa	16889	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080212	polycystic kidney disease 4 Aliases: pkd3 polycystic kidney and hepatic disease 1 polycystic kidney disease 4 with or without hepatic disease polycystic kidney disease, autosomal recessive polycystic kidney disease, infantile, type i	Pkhd1	241035	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080212	polycystic kidney disease 4 Aliases: pkd3 polycystic kidney and hepatic disease 1 polycystic kidney disease 4 with or without hepatic disease polycystic kidney disease, autosomal recessive polycystic kidney disease, infantile, type i	PKHD1	5314	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080209	sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay Aliases: SIFD	TRNT1	51095	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080208	metabolic dysfunction-associated steatotic liver disease Aliases: MAFLD MASLD NAFLD metabolic dysfunction-associated fatty liver disease metabolic dysfunction-related steatotic liver disease metabolic-associated fatty liver disease non-alcoholic fatty liver disease nonalcoholic fatty liver disease	ABCC2 ADIPOQ ADRB3 AKT1 ALDH2 CCR2 DGAT2 HFE IL6 LEPR PNPLA3 PPARGC1A SAMM50 SOD2 TG	10891 1244 155 207 217 25813 3077 3569 3953 6648 7038 729230 80339 84649 9370	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080208	metabolic dysfunction-associated steatotic liver disease Aliases: MAFLD MASLD NAFLD metabolic dysfunction-associated fatty liver disease metabolic dysfunction-related steatotic liver disease metabolic-associated fatty liver disease non-alcoholic fatty liver disease nonalcoholic fatty liver disease	Lep Lepr Pnpla3 Sidt2	116939 16846 16847 214597	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080208	metabolic dysfunction-associated steatotic liver disease Aliases: MAFLD MASLD NAFLD metabolic dysfunction-associated fatty liver disease metabolic dysfunction-related steatotic liver disease metabolic-associated fatty liver disease non-alcoholic fatty liver disease nonalcoholic fatty liver disease	Actb Atp5f1a Col1a1 Lpl Nfe2l2 Ppargc1a Ucp2	24539 29393 54315 65262 81822 83516 83619	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0080207	CAKUT2 Aliases: Congenital anomalies of the kidney and urinary tract 2	BMP4	652	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080206	CAKUT1 Aliases: Congenital anomalies of the kidney and urinary tract 1	DSTYK	25778	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080205	CAKUT Aliases: Congenital anomalies of the kidney and urinary tract Renal or urinary tract malformation	Lifr	16880	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080205	CAKUT Aliases: Congenital anomalies of the kidney and urinary tract Renal or urinary tract malformation	BMP4 HSPA1B NRIP1	3304 652 8204	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080204	renal hypoplasia	RET	5979	Homo sapiens (human)	Alliance of Genome Resources

Download data in CSV format Download data in TSV format Download data in JSON format

Table Filtering

GlyTouCan

GlyComb

GlycoPOST

UniCarb-DR

LM-GlycoRepo

All Resources

Other Information

Tools

Search Tools

Guidelines

International Collaboration

Acknowledgements