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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 **15101 - 15125** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▼	Organism	Source
DOID:0112202	developmental and epileptic encephalopathy	Depdc5 Dnm1 Dnm2 Dnm3 Gnao1 Kcnh5 Kcnq2 Kcnq3 Pigk Slc32a1 Stxbp1 Sv2a	103967 110862 13429 13430 14681 16536 20910 22348 238271 277854 329777 64051	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:2476	hereditary spastic paraplegia Aliases: French settlement disease Strumpell-Lorrain disease familial spastic paraplegia hereditary spastic paraparesis	Afg3l2 Aldh18a1 Atl3 Atp13a2 Atp13a3 Atp13a5 Bscl2 Dnm1 Dnm2 Dnm3 Erlin1 Erlin2 Hspd1 Kif5b Nipal1 Nipal4 Pnpla6 Rtn1 Rtn3 Rtn4	103967 104001 109168 13429 13430 14705 15510 16573 20168 214112 224088 226144 244373 268878 50767 56454 68585 69597 70701 74772	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:14447	gonadal dysgenesis Aliases: Gonadal dysgenesis syndrome	CBX2 DLC1 STARD13	10395 84733 90627	Homo sapiens (human)	Alliance of Genome Resources
DOID:5679	retinal disease	APOE AQP4 CAT CEPT1 CHPT1 GFAP GRK1 IL10 MAP2K3 PISD PLCB4 PRPH2 THY1	10390 23761 2670 348 3586 361 5332 5606 56994 5961 6011 7070 847	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112240	Leber congenital amaurosis with early-onset deafness Aliases: LCAEOD	TUBB4B	10383	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060798	hypomyelinating leukodystrophy 6 Aliases: H-ABC HABC HLD6 hypomyelinating leukodystrophy with atrophy of the basal ganglia and cerebellum hypomyelination with atrophy of basal ganglia and cerebellum	TUBB4A	10382	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090041	torsion dystonia 4	TUBB4A	10382	Homo sapiens (human)	Alliance of Genome Resources
DOID:3213	demyelinating disease Aliases: demyelinating disorder	CCR2 CD80 CXCR2 ENTPD1 KLK6 MBP MYC NEFL PLP1 PTGS2 TUBB4A	10382 3579 4155 4609 4747 5354 5653 5743 729230 941 953	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090137	complex cortical dysplasia with other brain malformations 1 Aliases: CDCBM1 cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation	TUBB3	10381	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081017	congenital fibrosis of the extraocular muscles 3A	TUBB3	10381	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080143	congenital fibrosis of the extraocular muscles	KIF21A TUBB3	10381 55605	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050997	cerebellar ataxia, mental retardation and dysequlibrium syndrome Aliases: CAMRQ Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 1 (CAMRQ1) Uner Tan syndrome VLDLR Cerebellar Hypoplasia	TUBB1 TUBB2A TUBB2B TUBB3 TUBB4A TUBB4B TUBB6 TUBB	10381 10382 10383 203068 347733 7280 81027 84617	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060260	ptosis Aliases: blepharoptosis drooping eyelid	TUBB1 TUBB2A TUBB2B TUBB3 TUBB4A TUBB4B TUBB6 TUBB	10381 10382 10383 203068 347733 7280 81027 84617	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112227	tubulinopathy	TUBB1 TUBB2A TUBB2B TUBB3 TUBB4A TUBB4B TUBB6 TUBB	10381 10382 10383 203068 347733 7280 81027 84617	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090132	complex cortical dysplasia with other brain malformations 7 Aliases: CDCBM7 polymicrogyria due to TUBB2B mutation	TUBB1 TUBB2A TUBB2B TUBB3 TUBB4A TUBB4B TUBB6 TUBB	10381 10382 10383 203068 347733 7280 81027 84617	Homo sapiens (human)	Alliance of Genome Resources
DOID:13934	facial paralysis Aliases: Facial Palsy	TUBB1 TUBB2A TUBB2B TUBB3 TUBB4A TUBB4B TUBB6 TUBB	10381 10382 10383 203068 347733 7280 81027 84617	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112232	lissencephaly 3 Aliases: LIS3	TUBA1A TUBA1B TUBA1C TUBA4A	10376 7277 7846 84790	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112234	microlissencephaly	TUBA1A TUBA1B TUBA1C TUBA4A	10376 7277 7846 84790	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080918	polymicrogyria	TUBA1A TUBA1B TUBA1C TUBA4A WDR62	10376 284403 7277 7846 84790	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090080	hypogonadotropic hypogonadism 16 with or without anosmia	SEMA3A	10371	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070040	autosomal dominant intellectual developmental disorder 10 Aliases: MRD10 autosomal dominant mental retardation 10 autosomal dominant non-syndromic intellectual disability 10	CACNG2	10369	Homo sapiens (human)	Alliance of Genome Resources
DOID:1825	childhood absence epilepsy Aliases: petit mal seizure pyknolepsy	CACNA1A CACNA1H CACNG2 GABRB3 GABRG2 GLUD1 GLUD2 GRIK1 HCN1 HTR7 LGI4 MMP9 NPY1R NPY2R NPY5R SLC2A1 YWHAZ	10369 163175 2562 2566 2746 2747 2897 3363 348980 4318 4886 4887 4889 6513 7534 773 8912	Homo sapiens (human)	Alliance of Genome Resources
DOID:5426	primary ovarian insufficiency Aliases: hypergonadotropic hypogonadism premature ovarian failure premature ovarian insufficiency	BBS9 BMP15 DMRT3 EXO1 KASH5 MEIOB MLH1 MOV10L1 MRPL50 MRPS22 MSH2 MSH4 MSH6 NPM1 NPM2 USP17L3 USP42 VCP WDR33 XPO5	10361 147872 254528 27241 2956 4292 4436 4438 4869 54456 54534 55339 56945 57510 58524 645836 7415 84132 9156 9210	Homo sapiens (human)	Alliance of Genome Resources
DOID:700	mitochondrial metabolism disease	HADHB IARS2 LARS2 LETM2 MARS2 NDUFS1 SLC25A6 UQCRFS1 VARS1 WARS2 YME1L1	10352 10730 137994 23395 293 3032 4719 55699 7386 7407 92935	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111364	Alzheimer's disease 9 Aliases: AD9 Alzheimer's disease 9, late onset	ABCA7	10347	Homo sapiens (human)	Alliance of Genome Resources

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