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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 **3801 - 3825** of **15957** in total

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Disease ID	Disease Name	Gene Symbol ▲	Gene ID	Organism	Source
DOID:9973	substance dependence	CREB1 FOSB	1385 2354	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110345	osteogenesis imperfecta type 16 Aliases: OI16 chromosome 11p11.2 deletion syndrome 91.3-KB osteogenesis imperfecta type XVI	CREB3L1	90993	Homo sapiens (human)	Alliance of Genome Resources
DOID:1933	Rubinstein-Taybi syndrome Aliases: Broad Thumb-Hallux syndrome Rubinstein syndrome proximal chromosome 16p13.3 deletion syndrome	CREBBP EP300	1387 2033	Homo sapiens (human)	Alliance of Genome Resources
DOID:3877	functional colonic disease	CRHR1 CRHR2 LINC02210-CRHR1	104909134 1394 1395	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050696	fetal alcohol spectrum disorder	CRHR1 DNMT1 DRD2 EHMT2 GABRB3 GABRG2 GRIN2B HDAC2 HDAC4 HSD11B2 IGF1R LINC02210-CRHR1 MAT2A MECP2 MTR NR3C1 NR3C2 OPRK1 OPRL1 PER2 POMC PRL PTEN RASGRF1 SETD7 SLC25A12 SLC6A4 UBE3A	104909134 10919 1394 1786 1813 2562 2566 2904 2908 3066 3291 3480 4144 4204 4306 4548 4986 4987 5443 5617 5728 5923 6532 7337 80854 8604 8864 9759	Homo sapiens (human)	Alliance of Genome Resources
DOID:10629	microphthalmia Aliases: microphthalmos simple microphthalmos	CRIM1 GDF6 HCCS LRP5 MAB21L1 MFRP MID1 RBM24 STAU2 TRPM3	221662 27067 3052 392255 4041 4081 4281 51232 80036 83552	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080329	cold-induced sweating syndrome 1	CRLF1	9244	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
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:0110337	osteogenesis imperfecta type 7 Aliases: OI7 osteogenesis imperfecta type VII	CRTAP	10491	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:0080093	myofibrillar myopathy 2 Aliases: alpha-b crystallinopathy	CRYAA CRYAB	1409 1410	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: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:0110450	dilated cardiomyopathy 1II Aliases: CMD1II	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:0080309	fatal infantile hypertonic myofibrillar myopathy	CRYAB	1410	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: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:1312	focal segmental glomerulosclerosis Aliases: FGS FSGS focal glomerular sclerosis focal glomerulosclerosis	CSC1 SIZ1	850942 852018	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:0111555	Alkuraya-Kucinskas syndrome Aliases: ALKKUCS	CSF1	850776	Saccharomyces cerevisiae S288C	Alliance of Genome Resources

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