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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	January 28, 2025
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **4226 - 4250** of **5716** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲	Source
DOID:1440	Machado-Joseph disease Aliases: Azorean disease MJD SCA3 spinocerebellar ataxia 3 spinocerebellar ataxia type 3	ATXN3	4287	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060482	oculoauricular syndrome	HMX1	3166	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110861	autosomal recessive polycystic kidney disease Aliases: AR-PKD	PKHD1	5314	Homo sapiens (human)	Alliance of Genome Resources
DOID:2468	psychotic disorder Aliases: mental or behavioural disorder	NRG1	3084	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080233	autosomal dominant intellectual developmental disorder 50 Aliases: autosomal dominant intellectual developmental disorder-50 with behavioral abnormalities autosomal dominant mental retardation 50	NAA15	80155	Homo sapiens (human)	Alliance of Genome Resources
DOID:9074	systemic lupus erythematosus Aliases: Lupus Erythematosus, systemic SLE - Lupus Erythematosus, systemic disseminated lupus erythematosus	AGER APOA1 C3 C4A C4B CAST CCL2 CD40 CFH CHAF1A CIITA CR2 CTLA4 CYP1A1 DNASE1 ELN EPOR F2 FAS FCGR2A FCGR2B FCGR3A HLA-DQB1 HLA-DRB1 HSPA1A HSPA1L IL10 IL1RN IL21 IL21R IL2 IRF5 KLKB1 MBL2 NAT2 NOD2 PDCD1 RPL14 SLC11A1 SNRNP70 SNRPC SNRPD1 SNRPD2 SOD2 STAT4 TLR5 TLR9 TNF VIM	10 10036 1380 1493 1543 177 1773 2006 2057 2147 2212 2213 2214 3075 3119 3123 3303 3305 335 355 3557 3558 3586 3663 3818 4153 4261 50615 5133 54106 59067 6347 64127 6556 6625 6631 6632 6633 6648 6775 7100 7124 718 720 721 7431 831 9045 958	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112300	spondylometaphyseal dysplasia with cone-rod dystrophy Aliases: SMD-CRD SMDCRD spondylometaphyseal dysplasia-cone-rod dystrophy syndrome	PCYT1A	5130	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080506	Cornelia de Lange syndrome 2	SMC1A	8243	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050440	familial partial lipodystrophy Aliases: Dunnigan Syndrome Koberling-Dunnigan Syndrome	ADRA2A LMNA	150 4000	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070296	primary autosomal recessive microcephaly Aliases: MCPH	ASPM BUB1 KIF14 KNL1 LMNB1 LMNB2 NCAPD2 NCAPD3 PDCD6IP TRAPPC14 WDR62	10015 23310 259266 284403 4001 55262 57082 699 84823 9918 9928	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050659	biotin-responsive basal ganglia disease	SLC19A3	80704	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111806	syndromic microphthalmia 5 Aliases: MCOPS5 syndromic microphthalmia type 5 syndromic microphthalmia/anophthalmia due to OTX2 mutation	OTX2	5015	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110663	congenital myasthenic syndrome 1A Aliases: CMS IIa CMS1A congenital myasthenic syndrome 1A, slow-channel congenital myasthenic syndrome type IIa	CAST CHRNA1	1134 831	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110163	Charcot-Marie-Tooth disease axonal type 2F Aliases: CMT2F Charcot-Marie-Tooth neuronal type 2F Charcot-Marie-Tooth neuropathy type 2F autosomal dominant Charcot-Marie-Tooth disease type 2F	HSPB1	3315	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111634	autosomal recessive nonsyndromic deafness 99 Aliases: DFNB99 autosomal recessive deafness 99	TMEM132E	124842	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112315	brain small vessel disease 3 Aliases: BSVD3	COLGALT1	79709	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112313	brain small vessel disease	FGA FGG NR1D1	2243 2266 9572	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081042	T-cell prolymphocytic leukemia Aliases: Prolymphocytic leukemia, T-cell type T Cell Prolymphocytic Leukemia	JAK3	3718	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110052	amelogenesis imperfecta type 1B Aliases: AI1B AIH2 amelogenesis imperfecta type IB autosomal dominant hypoplastic local amelogenesis imperfecta hereditary localized enamel hypoplasia	ENAM	10117	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060810	syndromic X-linked intellectual disability type 10 Aliases: HSD10 deficiency, atypical type HSD10 disease, atypical type MRXS10 X-linked intellectual disability-choreoathetosis-abnormal behavior syndrome mental retardation, X-linked syndromic 10	HSD17B10	3028	Homo sapiens (human)	Alliance of Genome Resources
DOID:4914	esophagus adenocarcinoma Aliases: Oesophageal adenocarcinoma	ABL1 CYP19A1 FOXP1 GHRL GPX3 GRB7 KDR MMP12 MMP14 MMP1 MMP3 NOS3 TNFRSF10A	1588 25 27086 2878 2886 3791 4312 4314 4321 4323 4846 51738 8797	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110181	Charcot-Marie-Tooth disease axonal type 2Z Aliases: CMT2Z Charcot-Marie-Tooth neuropathy type 2Z autosomal dominant axonal Charcot-Marie-Tooth disease type 2Z	MORC2	22880	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080289	orofaciodigital syndrome XVII	INTU	27152	Homo sapiens (human)	Alliance of Genome Resources
DOID:6713	cerebrovascular disease Aliases: CVA cerebrovascular disorder stroke	AGT AGTR1 APOE G6PD GLCE LMNA NR1H3 P2RY12 SELE	10062 183 185 2539 26035 348 4000 6401 64805	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080678	mucolipidosis III gamma	GNPTG	84572	Homo sapiens (human)	Alliance of Genome Resources

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