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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 **8451 - 8475** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼	Source
DOID:12705	Friedreich ataxia Aliases: Friedreich's ataxia Friedreich's tabes	AGTR1	185	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050425	restless legs syndrome Aliases: WED Willis-Ekbom disease Wittmaack-Ekbom syndrome	DRD3 MEIS1 PTPRD SLC11A2 TF	1814 4211 4891 5789 7018	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060931	developmental dysplasia of the hip 1 Aliases: DDH1	GDF5	8200	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050768	mitochondrial complex V (ATP synthase) deficiency nuclear type 1 Aliases: MC5DN1	ATPAF2	91647	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050800	cerebral creatine deficiency syndrome 1 Aliases: CEREBRAL CREATINE DEFICIENCY SYNDROME 1 SLC6A8 deficiency creatine transporter deficiency	SLC6A8	6535	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060901	lymphoplasmacytic lymphoma Aliases: Waldenstroem's macroglobulinemia Waldenstrom Macroglobulinemia lymphoplasmacytic lymphoma with IgM gammopathy	CXCR4 FCGR3A GPX3 IL10 IL6 IRF4 MYD88	2214 2878 3569 3586 3662 4615 7852	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070131	autosomal dominant cutis laxa 3 Aliases: ADCL3	ALDH18A1	5832	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060464	Feingold syndrome Aliases: FGLDS MODED syndrome ODED syndrome digital anomalies with short palpebral fissures and atresia of esophagus or duodenum microcephaly-digital anomalies-normal intelligence syndrome microcephaly-oculo-digito-esophageal-duodenal syndrome oculo-digito-esophageal-duodenal syndrome	MYCN	4613	Homo sapiens (human)	Alliance of Genome Resources
DOID:0002116	pterygium Aliases: surfer's eye	CAT ELN KDR MMP2 MMP9 OGG1 PECAM1 TP53 VEGFA VEGFC	2006 3791 4313 4318 4968 5175 7157 7422 7424 847	Homo sapiens (human)	Alliance of Genome Resources
DOID:1283	enterocele Aliases: vaginal enterocele	ALDH18A1	5832	Homo sapiens (human)	Alliance of Genome Resources
DOID:10460	nasopharyngitis Aliases: chronic nasopharyngitis	PTCH1	5727	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070042	Coffin-Siris syndrome 1 Aliases: CSS1 MRD12 autosomal dominant mental retardation 12 fifth digit syndrome	ARID1A	8289	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081202	autosomal recessive intellectual developmental disorder 37	ANK3	288	Homo sapiens (human)	Alliance of Genome Resources
DOID:11650	bronchopulmonary dysplasia Aliases: Bronchopulmonary dysplasia of newborn Chronic lung disease of prematurity Neonatal chronic lung disease Perinatal bronchopulmonary dysplasia Respiratory insufficiency neonatal chronic respiratory disease	BAX CASP9 CAT CD209 CHI3L1 DAG1 EDN1 EPAS1 FLT1 HIF1A IL1RN MBL2 MIF MUC1 SERPINE1 SFTPA1 SFTPB SFTPD TNF TP53	1116 1605 1906 2034 2321 30835 3091 3557 4153 4282 4582 5054 581 6439 6441 653509 7124 7157 842 847	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081288	white sponge nevus 2	KRT13	3860	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111707	Bothnian type palmoplantar keratoderma Aliases: PPKB diffuse palmoplantar keratoderma, Bothnian type	AQP5	362	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111741	X-linked deafness 5 Aliases: AUNX1 DFNX5 X-linked HSAN with deafness X-linked auditory neuropathy 1 with peripheral sensory neuropathy X-linked auditory neuropathy with peripheral sensory neuropathy type 1	AIFM1	9131	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111129	focal segmental glomerulosclerosis 2 Aliases: FSGS2	TRPC6	7225	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111369	hyperalphalipoproteinemia 1 Aliases: HALP1	CETP	1071	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110197	Charcot-Marie-Tooth disease dominant intermediate B Aliases: CMTDI1 CMTDIB Charcot-Marie-Tooth neuropathy dominant intermediate B DI-CMTB	DNM1 DNM2	1759 1785	Homo sapiens (human)	Alliance of Genome Resources
DOID:13580	cholestasis Aliases: Obstruction of bile duct bile occlusion	ABCB11 ABCB1 ABCB4 ABCC2 ABCC3 ABCC4 ABCG5 ABCG8 ACE ADAMTS13 ADH5 ALB APOC3 APOE BMAL1 CAT CD14 CD44 CFTR CLOCK COL1A1 CP CYP3A5 CYP7A1 ENG G6PD HP HPR IL1A IL4 LAMP2 MMP2 NOS3 PDGFB PRKAA1 PYGM SLC10A1 SLCO1A2 SLCO1B1 SLCO1B3 TIMP1 TJP1 UTP4 VPS33B	10257 10599 1080 11093 1244 1277 128 1356 1577 1581 1636 2022 213 2539 26276 28234 3240 3250 345 348 3552 3565 3920 406 4313 4846 5155 5243 5244 5562 5837 64240 64241 6554 6579 7076 7082 847 84916 8647 8714 929 9575 960	Homo sapiens (human)	Alliance of Genome Resources
DOID:3875	thrombophlebitis Aliases: Phlebitis and thrombophlebitis of superficial vessels of lower extremities Superficial thrombophlebitis of leg Thrombophlebitis of a superficial leg vein Thrombophlebitis of superficial veins of lower extremity	HLA-B	3106	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110398	retinitis pigmentosa 51 Aliases: RP51	TTC8	123016	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112202	developmental and epileptic encephalopathy	DEPDC5 DNM1 DNM2 KCNH5 KCNQ2 KCNQ3 KCNQ5 SLC32A1 STXBP1 STXBP2 SV2A	140679 1759 1785 27133 3785 3786 56479 6812 6813 9681 9900	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112370	Coffin-Siris syndrome 12 Aliases: CSS12	BICRA	29998	Homo sapiens (human)	Alliance of Genome Resources

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