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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 **12801 - 12825** of **15957** in total

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Disease ID	Disease Name	Gene Symbol ▼	Gene ID	Organism	Source
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:0110221	Brugada syndrome 4 Aliases: BRGDA4	CACNB2	783	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081023	retinal cone dystrophy 4	CACNA2D4	93589	Homo sapiens (human)	Alliance of Genome Resources
DOID:10273	heart conduction disease Aliases: heart rhythm disease	CACNA2D3 CAMK2A CAMK2B CAMK2D CAMK2G ETNK1 ETNK2 KCNH2 KCNH6 KCNH7 KCNK10 KCNK17 KCNK18 KCNK2 KCNK4 KCNK5 KCNK7 KCNMA1 KCNQ2 KCNQ3 KCNQ5 KCNU1 MME MMEL1 PHEX PYGO2 SLC6A2 SREBF1 SREBF2	10089 157855 338567 3757 3776 3778 3785 3786 4311 50801 5251 54207 55224 55500 55799 56479 6530 6720 6721 79258 81033 815 816 817 818 8645 89822 90134 90780	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070395	developmental and epileptic encephalopathy 110 Aliases: DEE110 early infantile epileptic encephalopathy 110	CACNA2D1	781	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081350	congenital myopathy 18	CACNA1S	779	Homo sapiens (human)	Alliance of Genome Resources
DOID:14452	hypokalemic periodic paralysis Aliases: Hypokalemic familial periodic paralysis Periodic paralysis I Westphal disease familial hypokalemic periodic paralysis periodic hypokalemic paralysis	CACNA1S KCNE3 SCN4A SCNN1B SCNN1D SCNN1G TUBB4A TUBB4B TUBB	10008 10382 10383 203068 6329 6338 6339 6340 779	Homo sapiens (human)	Alliance of Genome Resources
DOID:8545	malignant hyperthermia Aliases: anesthesia related hyperthermia malignant hyperpyrexia due to anesthesia	CACNA1S CACNG1 RYR1 RYR2 RYR3	6261 6262 6263 779 786	Homo sapiens (human)	Alliance of Genome Resources
DOID:446	primary hyperaldosteronism Aliases: Cushing syndrome Cushing's syndrome hyperaldosteronism	CACNA1H CLCN2 CYBB CYP11B1 CYP11B2 DRD2 KCNJ5 NR3C1 REN SERPINA1	1181 1536 1584 1585 1813 2908 3762 5265 5972 8912	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111742	cerebellar ataxia type 42 Aliases: SCA42	CACNA1G	8913	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110871	congenital stationary night blindness 2A Aliases: congenital stationary night blindness 2A X-linked	CACNA1F	778	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111007	X-linked cone-rod dystrophy 3 Aliases: CORDX3	CACNA1F	778	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050630	Aland Island eye disease Aliases: FORSIUS-ERIKSSON TYPE OCULAR ALBINISM Forsius-Eriksson syndrome	CACNA1F	778	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050534	congenital stationary night blindness Aliases: congenital essential nyctalopia	CACNA1F GUCY2D NYX TRPM1	3000 4308 60506 778	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112205	developmental and epileptic encephalopathy 69 Aliases: DEE69 early infantile epileptic encephalopathy 69	CACNA1E	777	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110649	long QT syndrome 8 Aliases: LQT8	CACNA1C	775	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110220	Brugada syndrome 3 Aliases: BRGDA3	CACNA1C	775	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070536	neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures Aliases: NEDHLSS	CACNA1C	775	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060173	Timothy syndrome	CACNA1C CACNA1D CACNA1F CACNA1S	775 776 778 779	Homo sapiens (human)	Alliance of Genome Resources
DOID:11723	Duchenne muscular dystrophy Aliases: Muscular dystrophy, Duchenne	CACNA1C CACNA1D CACNA1F CACNA1S CAPN1 CAPN3 CTNNAL1 CTSS DAG1 DMD DRP2 DTNA EML3 EML4 ITGA7 KCNMA1 KCNU1 NOS1 PLA2G6 SLC6A14 SLC6A5 SNTB2 SNTG2 UTRN	11254 1520 157855 1605 1756 1821 1837 256364 27436 3679 3778 4842 54221 6645 7402 775 776 778 779 823 825 8398 8727 9152	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0050835	generalized dystonia Aliases: familial dystonia fragments of torsion dystonia	CACNA1A	773	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070309	absence epilepsy	CACNA1A	773	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050990	episodic ataxia type 2	CACNA1A	773	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080454	developmental and epileptic encephalopathy 42 Aliases: DEE42 early infantile epileptic encephalopathy 42	CACNA1A	773	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050704	childhood electroclinical syndrome	CACNA1A	773	Homo sapiens (human)	Alliance of Genome Resources

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