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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 **2751 - 2775** of **7942** in total

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Disease ID ▲	Disease Name	Gene Symbol	Gene ID	Organism
DOID:0110937	autosomal dominant osteopetrosis 1 Aliases: OPTA1 autosomal dominant osteopetrosis type 1	Lrp5	16973	Mus musculus (house mouse)
DOID:0110938	autosomal dominant osteopetrosis 2 Aliases: Albers-Schonberg osteopetrosis OPTA2 autosomal dominant Albers-Schonberg disease autosomal dominant osteopetrosis type II osteopetrosis autosomal dominant type 2	ARSA CLC DEGS1 DHCR24 EXTL2 EXTL3 PTDSS1	1178 1718 2135 2137 410 8560 9791	Homo sapiens (human)
DOID:0110942	autosomal recessive osteopetrosis 1 Aliases: OPTB1 autosomal recessive Albers-Schonberg disease infantile malignant osteopetrosis 1	ATP6V0A2	23545	Homo sapiens (human)
DOID:0110946	autosomal recessive osteopetrosis 7 Aliases: OPTB7 autosomal recessive osteoclast-poor osteopetrosis with hypogammaglobulinemia autosomal recessive osteopetrosis type 7 osteoclast-poor osteopetrosis with hypogammaglobulinemia osteopetrosis-hypogammaglobulinemia syndrome	AGXT ALPL ARSA ATP6V0A2 CLC DEGS1 DHCR24 ENPP1 EXTL2 EXTL3 GBA1 HSPG2 LPIN2 PTDSS1 SLC26A2 TBXAS1	1178 1718 1836 189 2135 2137 23545 249 2629 3339 410 5167 6916 8560 9663 9791	Homo sapiens (human)
DOID:0110948	Waardenburg syndrome type 1 Aliases: WS1 Waardenburg syndrome type I	ABO ALPP	250 28	Homo sapiens (human)
DOID:0110949	Waardenburg syndrome type 3 Aliases: Klein-Waardenburg syndrome WS3 Waardenburg syndrome type III Waardenburg syndrome with upper limb anomalies	IDS	3423	Homo sapiens (human)
DOID:0110957	Gaucher's disease type I Aliases: Acid Beta-Glucosidase Deficiency GD I GD1 Gaucher Disease, Noncerebral Juvenile Gba Deficiency Glucocerebrosidase Deficiency	Gba1	14466	Mus musculus (house mouse)
DOID:0110957	Gaucher's disease type I Aliases: Acid Beta-Glucosidase Deficiency GD I GD1 Gaucher Disease, Noncerebral Juvenile Gba Deficiency Glucocerebrosidase Deficiency	ACE CHIT1 GBA1 GBA3 PAFAH1B1 PSAP UGCG	1118 1636 2629 5048 5660 57733 7357	Homo sapiens (human)
DOID:0110957	Gaucher's disease type I Aliases: Acid Beta-Glucosidase Deficiency GD I GD1 Gaucher Disease, Noncerebral Juvenile Gba Deficiency Glucocerebrosidase Deficiency	gba-1 gba-2 gba-3 gba-4	173574 177314 178535 183155	Caenorhabditis elegans
DOID:0110958	Gaucher's disease type II Aliases: GD II GD2 Gaucher Disease, Acute Neuronopathic Type Infantile Cerebral Gaucher Disease	Gba1	14466	Mus musculus (house mouse)
DOID:0110958	Gaucher's disease type II Aliases: GD II GD2 Gaucher Disease, Acute Neuronopathic Type Infantile Cerebral Gaucher Disease	gba-1 gba-2 gba-3 gba-4	173574 177314 178535 183155	Caenorhabditis elegans
DOID:0110958	Gaucher's disease type II Aliases: GD II GD2 Gaucher Disease, Acute Neuronopathic Type Infantile Cerebral Gaucher Disease	ACE CHIT1 GBA1	1118 1636 2629	Homo sapiens (human)
DOID:0110959	Gaucher's disease type III Aliases: GD III Gaucher Disease, Chronic Neuronopathic Type Gaucher Disease, Juvenile And Adult, Cerebral Gaucher Disease, Subacute Neuronopathic Type	Gba1	14466	Mus musculus (house mouse)
DOID:0110959	Gaucher's disease type III Aliases: GD III Gaucher Disease, Chronic Neuronopathic Type Gaucher Disease, Juvenile And Adult, Cerebral Gaucher Disease, Subacute Neuronopathic Type	ACE CHIT1 GBA1	1118 1636 2629	Homo sapiens (human)
DOID:0110959	Gaucher's disease type III Aliases: GD III Gaucher Disease, Chronic Neuronopathic Type Gaucher Disease, Juvenile And Adult, Cerebral Gaucher Disease, Subacute Neuronopathic Type	gba-3 gba-4	177314 178535	Caenorhabditis elegans
DOID:0110960	Gaucher's disease perinatal lethal Aliases: Fetal Gaucher Disease Gaucher Disease, Collodion Type	GBA1	2629	Homo sapiens (human)
DOID:0110960	Gaucher's disease perinatal lethal Aliases: Fetal Gaucher Disease Gaucher Disease, Collodion Type	Gba1	14466	Mus musculus (house mouse)
DOID:0110960	Gaucher's disease perinatal lethal Aliases: Fetal Gaucher Disease Gaucher Disease, Collodion Type	gba-3 gba-4	177314 178535	Caenorhabditis elegans
DOID:0110961	atypical Gaucher's disease due to saposin c deficiency	GBA1 PSAP	2629 5660	Homo sapiens (human)
DOID:0110969	brachydactyly type B1 Aliases: BDB1	PARP1	142	Homo sapiens (human)
DOID:0110970	brachydactyly type C Aliases: BDC	MGAM MGAT3 SI	4248 6476 8972	Homo sapiens (human)
DOID:0110980	Joubert syndrome 1 Aliases: CORS1 CPD4 JBTS1 cerebellooculorenal syndrome 1 cerebelloparenchymal disorder IV	GYS2 INPP5B INPP5E SYNJ1 SYNJ2	2998 3633 56623 8867 8871	Homo sapiens (human)
DOID:0110980	Joubert syndrome 1 Aliases: CORS1 CPD4 JBTS1 cerebellooculorenal syndrome 1 cerebelloparenchymal disorder IV	INPP5E	39404	Drosophila melanogaster (fruit fly)
DOID:0111005	cone-rod dystrophy 2 Aliases: CORD2 CRD2 RCRD2 cone-rod retinal dystrophy 2 retinal cone-rod dystrophy 2	ALOX12 CACNA2D4 CD38 CNTN3 CNTN6 CYP19A1 ELOVL4 GAL3ST1 H6PD HSD11B1 LGALS1 PIK3CA PIK3CB PIK3CD PIK3CG PTEN RGMA SIGLEC7 SLC35A1 SOAT1	10559 1588 239 27036 27255 3290 3956 5067 5290 5291 5293 5294 56963 5728 6646 6785 93589 9514 952 9563	Homo sapiens (human)
DOID:0111008	X-linked cone-rod dystrophy 1 Aliases: COD1 CORDX1 X-linked cone dystrophy 1	CD48	962	Homo sapiens (human)

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