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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 **10901 - 10925** of **15957** in total

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Disease ID	Disease Name	Gene Symbol ▼	Gene ID	Organism	Source
DOID:231	motor neuron disease	DCTN1 KIF5B NOS1 SOD1 TARDBP VAPA VAPB VWA1	1639 23435 3799 4842 64856 6647 9217 9218	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050890	synucleinopathy Aliases: Synucleinopathies alpha Synucleinopathies	DCTN1 KIF1B LRRK2	120892 1639 23095	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050632	oculocutaneous albinism	DCT OCA2 SLC45A2 TYR TYRP1	1638 4948 51151 7299 7306	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060445	congenital stromal corneal dystrophy Aliases: CSCD congenital hereditary stromal dystrophy	DCN	1634	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060010	Omenn syndrome Aliases: combined immunodeficiency with hypereosinophilia	DCLRE1C	64421	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090012	severe combined immunodeficiency with sensitivity to ionizing radiation Aliases: SCID due to DCLRE1C deficiency SCID due to artemis deficiency SCID, Athabascan type SCID, Athabaskan type Severe combined immunodeficiency due to DCLRE1C deficiency Severe combined immunodeficiency due to artemis deficiency Severe combined immunodeficiency, Athabascan type Severe combined immunodeficiency, Athabaskan type artemis deficiency	DCLRE1C	64421	Homo sapiens (human)	Alliance of Genome Resources
DOID:12177	common variable immunodeficiency Aliases: CVID acquired agammaglobulinemia acquired hypogammaglobulinemia common variable agammaglobulinemia sporadic hypogammaglobulinemia	DCLRE1C FCGR2A HLA-DQB1 ICOS IL21R MBL2 NFKB2 PECAM1	2212 29851 3119 4153 4791 50615 5175 64421	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080585	Van Maldergem syndrome 1	DCHS1	8642	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111153	congenital mirror movement disorder Aliases: familial congenital controlateral synkinesia familial congenital mirror movements hereditary congenital controlateral synkinesia hereditary congenital mirror movements isolated congenital controlateral synkinesia isolated congenital mirror movements	DCC NTN1	1630 9423	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090145	dopamine beta-hydroxylase deficiency Aliases: congenital dopamine beta-hydroxylase deficiency noradrenaline deficiency norepinephrine deficiency	DBH HSPA5 SLC6A2 SLC6A3	1621 3309 6530 6531	Homo sapiens (human)	Alliance of Genome Resources
DOID:11240	appendiceal neoplasm Aliases: appendix neoplasm neoplasm of appendix	DAXX	1616	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080521	lung non-squamous non-small cell carcinoma Aliases: non- squamous NSCLC	DAXX	1616	Homo sapiens (human)	Alliance of Genome Resources
DOID:4468	clear cell adenocarcinoma Aliases: Mesonephroid Clear cell carcinoma Mesonephroma, malignant Water-clear cell adenocarcinoma Water-clear cell carcinoma Wolffian duct neoplasm malignant Mesonephroma mesonephroma	DAXX	1616	Homo sapiens (human)	Alliance of Genome Resources
DOID:1798	pancreatic endocrine carcinoma Aliases: Islet cell carcinoma carcinoma of endocrine pancreas malignant neoplasm of islets of Langerhans pancreatic neuroendocrine carcinoma	DAXX MGMT PGF	1616 4255 5228	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080832	mild cognitive impairment	DAT	36849	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0070489	classic dopamine transporter deficiency syndrome Aliases: PKDYS1 classic DTDS infantile parkinsonism-dystonia 1	DAT	36849	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:11569	neurocirculatory asthenia Aliases: Cardiovascular malfunction arising from mental factors Cardiovascular neurosis Da Costa's syndrome Krishaber's disease	DAT	36849	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0090145	dopamine beta-hydroxylase deficiency Aliases: congenital dopamine beta-hydroxylase deficiency noradrenaline deficiency norepinephrine deficiency	DAT Tbh	31718 36849	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:10273	heart conduction disease Aliases: heart rhythm disease	DAT Nep4 Ork1	32020 36849 42449	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0060041	autism spectrum disorder	DAT Dscam1 LanB2 Lcch3 Nmdar1 Nrg Nrx-IV SerT Syn aralar1 ash1 kis mnb nAChRalpha1 nAChRalpha2 nAChRbeta1 nAChRbeta2 para sfl tor ttv	31792 32554 32619 32771 33185 35652 35717 36614 36849 37895 38545 38736 39118 39387 40133 40665 41247 42918 42919 42920 43616	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:11119	Gilles de la Tourette syndrome Aliases: Guinon's disease Psychogenic tics Tourette syndrome motor-verbal tic disorder	DAT Dop2R	33007 36849	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:12700	hyperprolactinemia Aliases: Chiari-Frommel syndrome Pregnancy-related A-G syndrome hyperprolactinaemia	DAT Dop2R	33007 36849	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0080642	Middle East respiratory syndrome	DAP2	856423	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0110293	autosomal recessive limb-girdle muscular dystrophy type 2P Aliases: LGMD2P MDDGC9 muscular dystrophy-dystroglycanopathy (limb-girdle) type C9 muscular dystrophy-dystroglycanopathy limb-girdle DAG1-related	DAG1	1605	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111232	congenital muscular dystrophy-dystroglycanopathy type A9 Aliases: MDDGA9 Walker-Warburg syndrome or muscle-eye-brain disease DAG1-related congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A9	DAG1	1605	Homo sapiens (human)	Alliance of Genome Resources

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