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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 **7926 - 7950** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▼	Organism	Source
DOID:0060230	basal ganglia calcification Aliases: Fahr disease	Pdgfb Pdgfrb Slc20a2	24628 24629 29502	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:12215	oligohydramnios Aliases: Oligohydramnios - delivered antepartum oligohydramnios delivered oligohydramnios	Pdgfa Pdgfb Pdgfra Pdgfrb Pdpn	24628 24629 25266 25267 54320	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0070302	multiple epiphyseal dysplasia 7 Aliases: EDM7	Cant1	246272	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0060462	Desbuquois dysplasia Aliases: Desbuquois syndrome micromelic dwarfism with vertebral and metaphyseal abnormalities and advanced carpotarsal ossification	Cant1 Xylt1	246272 64133	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:1587	thrombocytopenia due to platelet alloimmunization Aliases: Auto-immune thrombocytopenia Immune thrombocytopenia Thrombocytopenia Due to Immune Destruction	Fcgr4	246256	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111941	immunodeficiency 20 Aliases: CD16 deficiency IMD20 autosomal recessive primary immunodeficiency with defective spontaneous NK cell cytotoxicity autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity	Fcgr4	246256	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050947	hereditary hypophosphatemic rickets with hypercalciuria	Slc34a1 Slc34a3	246234 25548	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0081426	autosomal recessive distal hereditary motor neuronopathy 7	Vwa1	246228	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110555	autosomal dominant nonsyndromic deafness 25 Aliases: DFNA25 autosomal dominant deafness 25	SLC17A8	246213	Homo sapiens (human)	Alliance of Genome Resources
DOID:9784	trichinosis Aliases: Trichinella spiralis infection	SLC17A8	246213	Homo sapiens (human)	Alliance of Genome Resources
DOID:5463	cochlear disease	IL6 SLC17A8 TNF	246213 3569 7124	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110480	autosomal recessive nonsyndromic deafness 22 Aliases: DFNB22 autosomal recessive deafness 22	Otoa	246190	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:74	hematopoietic system disease Aliases: Blood disease Blood dyscrasia DISEASE OF THE BLOOD AND BLOOD-FORMING ORGANS Hematological disease blood disorder disease of haematopoietic system disease of hematopoietic system haematopoietic system disease	Serpine1	24617	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0111046	platelet-type bleeding disorder 10 Aliases: BDPLT10 CD36 deficiency platelet glycoprotein IV deficiency	Serpine1	24617	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0112379	muscular dystrophy-dystroglycanopathy type B4 Aliases: MDDGB4 congenital muscular dystrophy FKTN-related	Fktn	246179	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110296	autosomal recessive limb-girdle muscular dystrophy type 2M Aliases: LGMD2M MDDGC4 muscular dystrophy-dystroglycanopathy (limb-girdle) type C 4	Fktn	246179	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110443	dilated cardiomyopathy 1B	Fktn	246179	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110444	dilated cardiomyopathy 1X Aliases: CMD1X dilated cardiomyopathy with mild or no proximal muscle weakness	Fktn	246179	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060181	ischemic colitis	Serpine1 Vegfa	24617 83785	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:11695	portal vein thrombosis	Igf1r Serpine1	24617 25718	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:3490	Noonan syndrome Aliases: Turner's phenotype, karyotype normal	Igfals Plat Serpine1	24617 25692 79438	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:3192	neurilemmoma Aliases: Psammomatous schwannoma schwannoma	Kdr Pecam1 Serpine1 Snca	24617 25589 29219 29583	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0050830	peripheral artery disease	Npy5r P2ry12 Serpine1	24617 25340 64803	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:767	muscular atrophy Aliases: Amyotrophia Muscle wasting Wasting - muscle	Col1a2 Crhr2 Ghr Hsp90ab1 Mstn Rps6kb1 Serpine1 Tfrc	24617 25235 29152 301252 64678 64680 83840 84352	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:13810	familial hypercholesterolemia Aliases: Fredrickson type IIa hyperlipoproteinemia Fredrickson type IIa lipidaemia familial hyperbetalipoproteinaemia familial hypercholesteremia hyperbetalipoproteinemia type II hyperlipidemia	Apob Ghr Gk Ldlr Mmp9 Pcsk9 Pon2 Rbp4 Serpine1	24617 25235 25703 296851 298296 300438 54225 79223 81687	Rattus norvegicus (Norway rat)	Alliance of Genome Resources

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