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GlyCosmos Diseases

List of diseases involving glycan related genes. The information of each database of Glyco-Disease Genes Database (GDGDB), DisGeNET, and Alliance of Genome Resources is integrated into one list.

Source	Last Updated
Alliance of Genome Resources	July 29, 2024
DisGeNET	July 29, 2024
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **4376 - 4400** of **4621** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲
DOID:4267	akinetic mutism Aliases: Coma vigilans	PRNP	5621	Homo sapiens (human)
DOID:0050850	diabetic encephalopathy	GSK3B	2932	Homo sapiens (human)
DOID:4030	eosinophilic gastritis	SIGLEC8	27181	Homo sapiens (human)
DOID:0080508	Cornelia de Lange syndrome 4 Aliases: CDLS4 Cornelia De Lange syndrome 4 with or without midline brain defects	EXT1	2131	Homo sapiens (human)
DOID:3590	gestational trophoblastic neoplasm Aliases: gestational trophoblastic neoplasia hydatidiform mole molar pregnancy	ABO ACOT7 CD44 GGT1 HMMR HPSE2 LGALS1 MGAT4A MRC1 PGM1 PIK3CA PIK3CB PIK3CD PIK3CG PTEN SMUG1 VCAN	11320 11332 1462 23583 2678 28 3161 3956 4360 5236 5290 5291 5293 5294 5728 60495 960	Homo sapiens (human)
DOID:0060161	Kennedy's disease Aliases: Kennedy disease SBMA Spinobulbar Muscular Atrophy X-Linked Bulbo-Spinal Atrophy X-linked Spinal and Bulbar Muscular Atrophy spinal bulbar muscular atrophy	CERS6 GAPDH GFRA1 LDHA PRNP	253782 2597 2674 3939 5621	Homo sapiens (human)
DOID:0080041	hypochondroplasia	ACAN CYP2C19 DCN GALNT2	1557 1634 176 2590	Homo sapiens (human)
DOID:2095	sweat gland cancer Aliases: malignant neoplasm of sweat gland malignant tumor of the Sweat gland	ACSL5 CAT CD44 CD74 CEACAM5 COLEC10 CYP19A1 CYP1B1 FASN GPC3 HAS1 HSD17B7 KLRK1 LGALS1 LYPD5 MICA NEU1 PGP PIK3CA PIK3CB PIK3CD PIK3CG PTEN PTGS2 SCD SDC1 SMUG1 UMPS	100507436 1048 10584 1545 1588 2194 22914 23583 2719 283871 284348 3036 3956 4758 51478 51703 5290 5291 5293 5294 5728 5743 6319 6382 7372 847 960 972	Homo sapiens (human)
DOID:11199	hypoparathyroidism	ADH1A AGA APRT ASAH1 COMT CYP27B1 CYP2R1 DGCR2 HADHA HADHB ST8SIA4 STS	120227 124 1312 1594 175 3030 3032 353 412 427 7903 9993	Homo sapiens (human)
DOID:3690	brachial plexus neuropathy Aliases: Brachial plexus disorder brachial plexopathy	SMUG1	23583	Homo sapiens (human)
DOID:9007	sudden infant death syndrome Aliases: Cot death Crib death SIDS Sudden death of nonspecific cause in infancy	ACADM B3GAT1 CD14 CHAT CPT1A CYP1A1 CYP2B6 CYP2C19 CYP2C8 CYP2C9 CYP4F3 EPHX2 FUT2 G6PC1 GPD1L HADHA HPGDS IDS MBL2 PIK3CA PRNP SFTPD SI SLC37A4	1103 1374 1543 1555 1557 1558 1559 2053 23171 2524 2538 2542 27087 27306 3030 34 3423 4051 4153 5290 5621 6441 6476 929	Homo sapiens (human)
DOID:0070077	schizophrenia 1 Aliases: SCZD1	SULT1E1	6783	Homo sapiens (human)
DOID:2548	reflex epilepsy Aliases: epilepsy, sensory-induced	ABAT CYP27A1	1593 18	Homo sapiens (human)
DOID:5766	pulmonary sclerosing hemangioma Aliases: Pneumocytoma	CEACAM5 PTEN SMUG1	1048 23583 5728	Homo sapiens (human)
DOID:327	syringomyelia	CD38 CNTN2 CYP2U1 ERLEC1 GNPTAB HPRT1 IL18RAP PTGS2 SMUG1 TMTC1	113612 23583 27248 3251 5743 6900 79158 83857 8807 952	Homo sapiens (human)
DOID:0060890	ectopic Cushing syndrome Aliases: Cushing syndrome due to ectopic ACTH secretion ectopic ACTH secreting tumor	HSD11B2 SMUG1	23583 3291	Homo sapiens (human)
DOID:0110676	congenital myasthenic syndrome 13 Aliases: CMS13 CMSTA2 congenital myasthenic syndrome 13 with tubular aggregates congenital myasthenic syndrome with tubular aggregates 2	DPAGT1	1798	Homo sapiens (human)
DOID:3876	colonic pseudo-obstruction Aliases: primary chronic pseudo-obstruction of colon	ACHE	43	Homo sapiens (human)
DOID:0090017	epidermolysis bullosa simplex with muscular dystrophy Aliases: epidermolysis bullosa simplex and limb-girdle muscular dystrophy limb-girdle muscular dystrophy with epidermolysis bullosa simplex	PLOD3	8985	Homo sapiens (human)
DOID:0060307	autosomal dominant intellectual developmental disorder Aliases: autosomal dominant mental retardation autosomal dominant non-syndromic mental retardation	LMAN2L ST3GAL4	6484 81562	Homo sapiens (human)
DOID:13121	deficiency anemia Aliases: deficiency anemias	ACO1 CACNA2D3 CAT CD55 IDUA LALBA PLA2G4A PLA2G6	1604 3425 3906 48 5321 55799 8398 847	Homo sapiens (human)
DOID:2024	placental choriocarcinoma Aliases: Choriocarcinoma of the Placenta	CYP19A1 STS	1588 412	Homo sapiens (human)
DOID:0110483	autosomal recessive nonsyndromic deafness 25 Aliases: DFNB25 autosomal recessive deafness 25	ACO2 ACOX1 ARSA CD109 CHSY1 COG4 LRTOMT OTOA OTOG PSAP TECTA	135228 146183 220074 22856 25839 340990 410 50 51 5660 7007	Homo sapiens (human)
DOID:0050827	rheumatic heart disease Aliases: rheumatic carditis	CD209 GAPDH	2597 30835	Homo sapiens (human)
DOID:0060887	ossification of the posterior longitudinal ligament of spine Aliases: OPLL	DCN ENPP1 LSS	1634 4047 5167	Homo sapiens (human)

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