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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 **8776 - 8800** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼	Source
DOID:0070119	Meckel syndrome 5 Aliases: MKS5 Meckel-Gruber syndrome, type 5	RPGRIP1L	23322	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080753	keratosis follicularis spinulosa decalvans	GNPNAT1	64841	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080179	haemophilus meningitis	FCGR2A	2212	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070210	hereditary lymphedema IA Aliases: LMPH1A	FLT4	2324	Homo sapiens (human)	Alliance of Genome Resources
DOID:10887	lepromatous leprosy Aliases: type L leprosy	C3 CD163 CFB HLA-DQA1 MBL2	3117 4153 629 718 9332	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111004	Joubert syndrome 9 Aliases: JBTS9	CC2D2A	57545	Homo sapiens (human)	Alliance of Genome Resources
DOID:4988	alcoholic pancreatitis	CCK CFTR UGT1A7	1080 54577 885	Homo sapiens (human)	Alliance of Genome Resources
DOID:2717	Bloom syndrome Aliases: Bloom-Torre-Machacek syndrome Congenital Telangiectatic Erythema syndrome	BLM	641	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070434	hyperphosphatasia with impaired intellectual development syndrome 2 Aliases: GPIBD6 HPMRS2 glycosylphosphatidylinositol biosynthesis defect 6 hyperphosphatasia with mental retardation syndrome 2	PIGO	84720	Homo sapiens (human)	Alliance of Genome Resources
DOID:4890	juvenile myoclonic epilepsy	BRD2	6046	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110794	hereditary spastic paraplegia 42 Aliases: SPG42 autosomal dominant spastic paraplegia 42 autosomal dominant spastic paraplegia type 42	SLC33A1	9197	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070095	oculocutaneous albinism type IB Aliases: Albinism, Yellow Mutant Type OCA1B	TYR	7299	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111536	Buschke-Ollendorff syndrome Aliases: BOS dermatofibrosis lenticularis disseminata with osteopoikilosis dermatoosteopoikilosis disseminated dermatofibrosis with osteopoikilosis osteopathia condensans disseminata	ELN LEMD3	2006 23592	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050755	spinocerebellar ataxia with axonal neuropathy 2 Aliases: AOA2 SCAN2 SCAR1 ataxia with oculomotor apraxia type 2 autosomal recessive spinocerebellar ataxia 1 autosomal recessive spinocerebellar ataxia with axonal neuropathy 2 spinocerebellar ataxia with axonal neuropathy type 2	SETX	23064	Homo sapiens (human)	Alliance of Genome Resources
DOID:3635	congenital myasthenic syndrome	CHAT CHRNA1 CHRNA2 CHRNA3 CHRNA4 CHRNA6 CHRNB1 CHRNB2 CHRNB3 CHRND CHRNE CHRNG MYO9A SYT1 SYT2	1103 1134 1135 1136 1137 1140 1141 1142 1144 1145 1146 127833 4649 6857 8973	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070041	autosomal dominant intellectual developmental disorder 11 Aliases: MRD11 autosomal dominant mental retardation 11 autosomal dominant non-syndromic intellectual disability 11	EPB41L1	2036	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110187	Charcot-Marie-Tooth disease type 4K Aliases: CMT4K SURF1-related CMT4 SURF1-related Charcot-Marie-Tooth disease type 4 SURF1-related severe demyelinating Charcot-Marie-Tooth disease autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4K autosomal recessive demyelinating Charcot-Marie-Tooth neuropathy type 4K	SURF1	6834	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060789	hypomyelinating leukodystrophy 4 Aliases: HLD4 MitCHAP60 disease Pelizaeus-Merzbacher-like disease due to HSPD1 mutation mitochondrial HSP60 chaperonopathy	HSPD1	3329	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112004	immunodeficiency 71 Aliases: IMD71 PLTEID immunodeficiency 71 with inflammatory disease and congenital thrombocytopenia platelet abnormalities with eosinophilia and immune-mediated inflammatory disease	ARPC1B	10095	Homo sapiens (human)	Alliance of Genome Resources
DOID:1064	cystinosis Aliases: cystine storage disease	CTNS	1497	Homo sapiens (human)	Alliance of Genome Resources
DOID:3407	carotid artery disease Aliases: disorder of carotid artery	AGER AGT AGTR1 B2M CD14 CD40LG CD63 CETP CTSS FGB HFE HGF HSPD1 HSPG2 IL10 LTA LTB4R LUM MMP1 MMP2 MMP8 MMP9 NAMPT PAPPA PGF PLA2G7 PPARG PRL PTGDS SELPLG SOD2 SREBF2 TGFB1 TLR4 TNFRSF11B UCP2 VCAM1 VWF	10135 1071 1241 1520 177 183 185 2244 3077 3082 3329 3339 3586 4049 4060 4312 4313 4317 4318 4982 5069 5228 5468 5617 567 5730 6404 6648 6721 7040 7099 7351 7412 7450 7941 929 959 967	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111064	autosomal recessive distal hereditary motor neuronopathy 1 Aliases: DSMA1 SIANRF SMARD1 autosomal recessive distal spinal muscular atrophy 1 autosomal recessive spinal muscular atrophy with respiratory distress dHMN6 diaphragmatic spinal muscular atrophy distal hereditary motor neuropathy type 6 distal spinal muscular atrophy 1 distal-HMN type 6 severe infantile axonal neuropathy with respiratory failure type 1 spinal muscular atrophy with respiratory distress type 1	IGHMBP2	3508	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112184	thyroid dyshormonogenesis 5 Aliases: TDH5 genetic defect in thyroid hormonogenesis 5	DUOXA2	405753	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060244	specific language impairment	CNTNAP2	26047	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111225	centronuclear myopathy X-linked Aliases: CNMX MTM1 X-linked myotubular myopathy XLCNM XLMTM myotubular myopathy 1	MTM1 MTMR1 MTMR2 MTMR3 MTMR4 MTMR6 MTMR7 MTMR8	4534 55613 8776 8897 8898 9107 9108 9110	Homo sapiens (human)	Alliance of Genome Resources

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