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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 **12126 - 12150** of **15957** in total

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Disease ID	Disease Name	Gene Symbol ▼	Gene ID	Organism	Source
DOID:11450	allergic cutaneous vasculitis Aliases: Allergic Cutaneous Angiitis Autoimmune Hypersensitivity angiitis	CSF3	1440	Homo sapiens (human)	Alliance of Genome Resources
DOID:12010	anterior ischemic optic neuropathy Aliases: Ischemic optic neuropathy	CSF3 NOS3	1440 4846	Homo sapiens (human)	Alliance of Genome Resources
DOID:8692	myeloid leukemia Aliases: Non-Lymphocytic Leukemia leukaemia myelogenous leukemia myelogenous myeloid granulocytic leukaemia myeloid granulocytic leukemia myeloid leukaemia	CSF3 FGFR1 GATA2 IFNG IGFBP3 MN1 MPL NSD3 PDGFRA PECAM1 SNCA UGT1A1	1440 2260 2624 3458 3486 4330 4352 5156 5175 54658 54904 6622	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080523	adult-onset leukoencephalopathy with axonal spheroids and pigmented glia Aliases: hereditary diffuse leukoencephalopathy with spheroids	CSF1R	1436	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070343	CSF1R-related brain malformation and osteopetrosis Aliases: osteoporosis and infantile neuroaxonal dystrophy	CSF1R	1436	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080006	bone development disease	CSF1R FLNB LRP4 NPR2 TNFRSF11A	1436 2317 4038 4882 8792	Homo sapiens (human)	Alliance of Genome Resources
DOID:305	carcinoma Aliases: epithelial cancer epithelioma malignant Epithelioma	CSF1R CTNNB1 DLG1 EDA EGFR ERBB2 ERBB3 ERBB4 FAT4 FGR FLT1 FLT3 FLT4 HCK HRAS JUP KDR KIT KRAS LATS1 LATS2 LLGL1 LLGL2 NRAS RAB5A RAB5C S1PR2 SALL1 SALL2 SALL4 SCD SCRIB SNAI1 SRC STK4 TNFSF12-TNFSF13 TNFSF12 YAP1	10413 1436 1499 1739 1896 1956 2064 2065 2066 2268 2321 2322 2324 23513 26524 3055 3265 3728 3791 3815 3845 3993 3996 407977 4893 57167 5868 5878 6297 6299 6319 6615 6714 6789 79633 8742 9113 9294	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111555	Alkuraya-Kucinskas syndrome Aliases: ALKKUCS	CSF1	850776	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0070400	hypomyelinating leukodystrophy 19 Aliases: HLD19	CSC1	850942	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0070456	hereditary spastic paraplegia 87 Aliases: SPG87 autosomal recessive spastic paraplegia 87	CSC1	850942	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:1312	focal segmental glomerulosclerosis Aliases: FGS FSGS focal glomerular sclerosis focal glomerulosclerosis	CSC1 SIZ1	850942 852018	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0050852	limb ischemia	CS CSF3 DLL4 EPO FGFR1 HGF HIF1A ITGAM NOS3 PTGIS VEGFA	1431 1440 2056 2260 3082 3091 3684 4846 54567 5740 7422	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110566	autosomal dominant nonsyndromic deafness 40 Aliases: DFNA40 autosomal dominant deafness 40	CRYM	1428	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080309	fatal infantile hypertonic myofibrillar myopathy	CRYAB	1410	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110250	cataract 16 multiple types Aliases: CTRCT16	CRYAB	1410	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110450	dilated cardiomyopathy 1II Aliases: CMD1II	CRYAB	1410	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110266	cataract 9 multiple types Aliases: CTRCT9 cataract 9 multiple types with or without microcornea	CRYAA	1409	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110174	Charcot-Marie-Tooth disease axonal type 2L Aliases: CMT2L Charcot-Marie-Tooth neuropathy axonal type 2L autosomal dominant Charcot-Marie-Tooth disease type 2L autosomal dominant axonal Charcot-Marie-Tooth disease type 2L	CRYAA HSPB8	1409 26353	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111206	autosomal dominant distal hereditary motor neuronopathy 2 Aliases: HMN II HMN IIA HMN2 HMN2A autosomal dominant adult spinal muscular atrophy IIA distal hereditary motor neuronopathy type 2 distal hereditary motor neuronopathy type 2A distal hereditary motor neuropathy type II distal hereditary motor neuropathy type IIA spinal Charcot-Marie-Tooth disease IIA	CRYAA HSPB8	1409 26353	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080093	myofibrillar myopathy 2 Aliases: alpha-b crystallinopathy	CRYAA CRYAB	1409 1410	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111141	delayed sleep phase syndrome Aliases: DSPD	CRY1	1407	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110337	osteogenesis imperfecta type 7 Aliases: OI7 osteogenesis imperfecta type VII	CRTAP	10491	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111234	congenital muscular dystrophy-dystroglycanopathy A7 Aliases: MDDGA7 Walker-Warburg syndrome or muscle-eye-brain disease ISPD-related congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A7	CRPPA	729920	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110295	autosomal recessive limb-girdle muscular dystrophy type 2U Aliases: LGMD2U MDDGC7 autosomal recessive limb-girdle muscular dystrophy due to ISPD deficiency muscular dystrophy limb-girdle type 2U muscular dystrophy-dystroglycanopathy (limb-girdle) type C7	CRPPA	729920	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070430	combined oxidative phosphorylation deficiency 57 Aliases: COXPD57	CRLS1	54675	Homo sapiens (human)	Alliance of Genome Resources

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