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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 **1201 - 1225** of **4649** in total

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Disease ID ▲	Disease Name	Gene Symbol	Gene ID	Organism	Source
DOID:0080329	cold-induced sweating syndrome 1	CRLF1	9244	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080330	cold-induced sweating syndrome 2	CLCF1	23529	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080331	cold-induced sweating syndrome 3	KLHL7	55975	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080333	aortic valve disease 1	ENPP1 IL6 NOTCH1	3569 4851 5167	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080334	aortic valve disease 2	FTO LMNA MMP2 SMAD6	4000 4091 4313 79068	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080335	mitochondrial DNA depletion syndrome 12b	SLC25A6	293	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080336	mitochondrial DNA depletion syndrome 14	OPA1	4976	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080337	mitochondrial DNA depletion syndrome 15	TFAM	7019	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080339	familial erythrocytosis 4 Aliases: ECYT4	EPAS1	2034	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080345	blepharocheilodontic syndrome 1	CDH1	999	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080346	blepharocheilodontic syndrome 2	CTNND1	1500	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080348	Alzheimer's disease 1 Aliases: Alzheimer's disease 1, early onset	APLP1 APLP2 APP KLC2 KLC4 MPO PLAU	333 334 351 4353 5328 64837 89953	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080349	developmental and epileptic encephalopathy 39 Aliases: AGC1 deficiency early infantile epileptic encephalopathy 39 epileptic encephalopathy with global cerebral demyelination	SLC25A12	8604	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080351	CLOVES syndrome Aliases: congenital lipomatous overgrowth, vascular malformations, and epidermal nevi	PIK3CA	5290	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080352	X-linked chondrodysplasia punctata 2 Aliases: Conradi-Hunermann Syndrome Happle syndrome	EBP	10682	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080353	X-linked recessive hypophosphatemic rickets	CLCN5	1184	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080354	Phelan-McDermid syndrome Aliases: 22q13.3 deletion syndrome monosomy 22q13 syndrome	TCF20	6942	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080356	IgG4-related disease	LAT	27040	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080365	endometrial hyperplasia	CA9 CDC25B JUP KRAS PTK2 SKP2 TFF1	3728 3845 5747 6502 7031 768 994	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080376	trichorhinophalangeal syndrome type III Aliases: trichorhinophalangeal syndrome type 3	TRPS1	7227	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080377	peroxisomal biogenesis disorder	RHOA RHOB RHOC	387 388 389	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080379	nephrotic syndrome type 2 Aliases: steroid-resistant autosomal recessive nephrotic syndrome	ANXA5 NPHS2 NR3C1 PLA2G7 PLCE1 TRPC6	2908 308 51196 7225 7827 7941	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080380	nephrotic syndrome type 5 Aliases: nephrotic syndrome type 5, with or without ocular abnormalities	LAMB2	3913	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080381	nephrotic syndrome type 13	NUP205	23165	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080382	nephrotic syndrome type 3 Aliases: early onset nephrotic syndrome type 3	PLCE1	51196	Homo sapiens (human)	Alliance of Genome Resources

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