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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 **3601 - 3625** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲	Source
DOID:0050450	Gitelman syndrome Aliases: HYPOMAGNESEMIA-HYPOKALEMIA, PRIMARY RENOTUBULAR, WITH HYPOCALCIURIA	CLCNKB SLC12A3	1188 6559	Homo sapiens (human)	Alliance of Genome Resources
DOID:14451	hyperkalemic periodic paralysis Aliases: familial hyperkalemic periodic paralysis	SCN4A	6329	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060738	junctional epidermolysis bullosa non-Herlitz type Aliases: GABEB JEB-nH gen JEN-nH generalized atrophic benign epidermolysis bullosa generalized junctional epidermolysis bullosa, non-Herlitz type junctional epidermolysis bullosa generalisata mitis junctional epidermolysis bullosa, Disentis type	COL17A1 ITGB4 LAMA3 LAMB3 LAMC2	1308 3691 3909 3914 3918	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070247	autosomal dominant Emery-Dreifuss muscular dystrophy 2 Aliases: EDMD2 EMD2 Emery-Dreifuss muscular dystrophy 2, autosomal dominant Emery-Dreifuss muscular dystrophy, autosomal dominant Hauptmann-Thannhauser muscular dystrophy autosomal dominant limb-girdle muscular dystrophy type 1B muscular dystrophy with early contractures and cardiomyopathy, autosomal dominant scapuloilioperoneal atrophy with cardiopathy	LMNA LMNB1 LMNB2	4000 4001 84823	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080696	Winchester syndrome	MMP14	4323	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080051	acromesomelic dysplasia, Hunter-Thompson type Aliases: acromesomelic dwarfism acromesomelic dysplasia-2C	GDF5	8200	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060482	oculoauricular syndrome	HMX1	3166	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080887	vitamin D-dependent rickets type 1B	CYP2R1	120227	Homo sapiens (human)	Alliance of Genome Resources
DOID:9201	lichen planus Aliases: Lichen, ruber planus lichen ruber planus	CAT CD40 CD40LG RIPK1	847 8737 958 959	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070339	cerebellar hyplasia/atrophy, epilepsy, and global developmental delay	OXR1	55074	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060404	chromosome 17q12 deletion syndrome Aliases: 17q12 microdeletion syndrome	AATF ACACA ACACB DUSP14	11072 26574 31 32	Homo sapiens (human)	Alliance of Genome Resources
DOID:9452	steatotic liver disease Aliases: Fatty change of liver SLD Steatosis of liver alcoholic fatty liver fatty liver disease hepatic lipidosis hepatic steatosis	ABCA1 ABCC2 ABCC3 ACACA ACACB ACOX1 ADIPOQ ADRB2 AHCY ALPL APOA1 APOB APOE CAT CCL5 CD163 CDIPT CPE CPS1 CTSB CYP2E1 DGAT2 FGFR1 G6PC1 GCK GGT1 GPX1 HADHA HADHB HFE HSPA5 HTR2A HTR2B IL10 IL13RA2 IL6 INS INSR LDLR LEP LGALS3 LRP6 MC4R NFKB1 NOX4 NR3C2 OPA1 PLAU PNPLA3 PPARA PPARG PPARGC1A PTEN PTGS2 RELA SEC63 SHC1 SIRT1 SLCO1A2 UCP2	10423 10891 11231 1244 1363 1373 1508 154 1571 19 191 2260 23411 249 2538 2645 2678 2876 3030 3032 3077 31 32 3309 335 3356 3357 338 348 3569 3586 3598 3630 3643 3949 3952 3958 4040 4160 4306 4790 4976 50507 51 5328 5465 5468 5728 5743 5970 6352 6464 6579 7351 80339 84649 847 8714 9332 9370	Homo sapiens (human)	Alliance of Genome Resources
DOID:1935	Bardet-Biedl syndrome	BBS2 BBS9 CEP131 SCAPER TBC1D32 TMEM67 TTC8	123016 221322 22994 27241 49855 583 91147	Homo sapiens (human)	Alliance of Genome Resources
DOID:10486	intestinal atresia	ACTA1 ACTA2 ACTB ACTBL2 ACTC1 ACTG1 FGF10 FGFR2	2255 2263 345651 58 59 60 70 71	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050433	fatal familial insomnia	NEFL PRNP	4747 5621	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080231	autosomal dominant intellectual developmental disorder 52 Aliases: autosomal dominant mental retardation 52	ASH1L	55870	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060789	hypomyelinating leukodystrophy 4 Aliases: HLD4 MitCHAP60 disease Pelizaeus-Merzbacher-like disease due to HSPD1 mutation mitochondrial HSP60 chaperonopathy	HSPD1	3329	Homo sapiens (human)	Alliance of Genome Resources
DOID:893	Wilson disease Aliases: Cerebral pseudosclerosis Westphal pseudosclerosis Westphal-Strumpell syndrome Wilson's disease hepatolenticular degeneration	ANXA5 ATP7A ATP7B CP CYP27B1 HMGCR SMPD1	1356 1594 308 3156 538 540 6609	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070062	Arboleda-Tham syndrome Aliases: ARTHS MRD32 autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome autosomal dominant mental retardation 32 autosomal dominant non-syndromic intellectual disability 32	KAT6A	7994	Homo sapiens (human)	Alliance of Genome Resources
DOID:9286	priapism Aliases: Mentulagra	F13A1 MDM2	2162 4193	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080540	galactosialidosis	CTSA	5476	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0111592	plasminogen deficiency type I Aliases: hypoplasminogenemia	PLG	5340	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111158	SADDAN Aliases: SADDAN dysplasia severe achondroplasia with developmental delay and acanthosis nigricans	FGFR3	2261	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110914	infantile hypophosphatasia Aliases: Hops phosphoethanolaminuria	ALPL	249	Homo sapiens (human)	Alliance of Genome Resources
DOID:2582	acatalasia Aliases: acatalasemia deficiency of catalase	CAT	847	Homo sapiens (human)	Alliance of Genome Resources

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