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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 **2851 - 2875** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▲	Organism
DOID:0060645	chronic recurrent multifocal osteomyelitis Aliases: CRMO chronic multifocal osteomyelitis	CPT1B IL1R1 LPIN2 PIGN RPE	1375 23556 3554 6120 9663	Homo sapiens (human)
DOID:700	mitochondrial metabolism disease	ACACA ACOX1 AGK ALDH2 APRT ARSA CERS6 CPT2 CS DHDDS ECHS1 FOLR2 GAA GBE1 GGT1 GPX1 HADHB HMGCL HSD17B6 MMUT OGG1 PDHA1 PLCE1 SDHA SDHB SDHC SLC25A1 SLC39A8 SOAT1 SORD SULT1E1 TYMP	1376 1431 1890 1892 217 2350 253782 2548 2632 2678 2876 3032 31 3155 353 410 4594 4968 51 51196 5160 55750 6389 6390 6391 64116 6576 6646 6652 6783 79947 8630	Homo sapiens (human)
DOID:699	mitochondrial myopathy Aliases: mitochondrial cytopathy	ACACA ACOX1 AGK ALDH2 APRT ARSA CERS6 CPT2 CS DHDDS FOLR2 GAA GBE1 GGT1 GPX1 HMGCL HSD17B6 OGG1 PDHA1 SDHA SDHB SDHC SLC39A8 SOAT1 SORD TYMP	1376 1431 1890 217 2350 253782 2548 2632 2678 2876 31 3155 353 410 4968 51 5160 55750 6389 6390 6391 64116 6646 6652 79947 8630	Homo sapiens (human)
DOID:0060235	carnitine palmitoyltransferase II deficiency Aliases: CPT-II infantile carnitine palmitoyltransferase II deficiency late-onset carnitine palmitoyltransferase II deficiency lethal neonatal carnitine palmitoyltransferase II deficiency	CHPT1 CPT2 CS DHDDS EHHADH GBE1 HADHA	1376 1431 1962 2632 3030 56994 79947	Homo sapiens (human)
DOID:7327	pseudosarcomatous fibromatosis Aliases: Fasciitis - nodular Pseudosarcomatous Fasciitis nodular fasciitis	ACADM ACADVL CPT2 CYP2C8 DCN DPAGT1 FKRP HADHA HADHB HSPG2 LDHA PFKM PGAM2 PGK1 PLA2G2A PLA2G6 PTGS2 PYGM SOAT1	1376 1558 1634 1798 3030 3032 3339 34 37 3939 5213 5224 5230 5320 5743 5837 6646 79147 8398	Homo sapiens (human)
DOID:4724	brain edema Aliases: intracranial swelling wet brain	ACADM BCKDHA BCKDHB CPT2 DBT ICAM1	1376 1629 3383 34 593 594	Homo sapiens (human)
DOID:2746	glycogen storage disease V Aliases: Glycogen storage disease 5 Glycogen storage disease, type V McArdle's disease glycogen storage disease type V myophosphorylase deficiency	ACE APRT CPT2 PGM1 PYGL PYGM SLC2A4	1376 1636 353 5236 5836 5837 6517	Homo sapiens (human)
DOID:0080000	muscular disease	ACACA ACACB CPT2 FASN LPL	1376 2194 31 32 4023	Homo sapiens (human)
DOID:0080108	myoglobinuria	CPT2 HADH HADHA HADHB LDHA LPIN1 LPIN2 LPIN3 PGAM2 PGK1 PYGM	1376 23175 3030 3032 3033 3939 5224 5230 5837 64900 9663	Homo sapiens (human)
DOID:14464	neuroleptic malignant syndrome	CPT2 PIK3C2A RENBP	1376 5286 5973	Homo sapiens (human)
DOID:0111393	mucopolysaccharidosis type IIIC Aliases: Acetyl-CoA alpha-glucosaminide acetyltransferase deficiency HGSNAT deficiency Heparan-alpha-glucosaminide N-acetyltransferase deficiency MPS3C MPSIIIC Mucopolysaccharidosis type 3C Sanfilippo syndrome type C mucopolysaccharidosis type IIIC (Sanfilippo C)	EXTL2 EXTL3 GNS HGSNAT NAGLU SGSH	138050 2135 2137 2799 4669 6448	Homo sapiens (human)
DOID:0110870	congenital stationary night blindness 1A Aliases: CSNB1A NBMI complete CSNB X-linked congenital stationary night blindness 1A X-linked congenital stationary night blindness with myopia hemeralopia-myopia myopia-night blindness	ARSG CA4 CACNA2D4 COG4 ELOVL4 HADHA HGSNAT HK1 HSD3B7 NYX PCYT1A POMGNT1	138050 22901 25839 3030 3098 5130 55624 60506 6785 762 80270 93589	Homo sapiens (human)
DOID:0050534	congenital stationary night blindness Aliases: congenital essential nyctalopia	ARSG CA4 CACNA2D4 COG4 ELOVL4 HADHA HGSNAT HK1 HSD3B7 NYX PCYT1A POMGNT1	138050 22901 25839 3030 3098 5130 55624 60506 6785 762 80270 93589	Homo sapiens (human)
DOID:8499	night blindness Aliases: nyctalopia	ARSG CA4 CACNA2D4 COG4 ELOVL4 HADHA HGSNAT HK1 HSD3B7 NYX PCYT1A POMGNT1	138050 22901 25839 3030 3098 5130 55624 60506 6785 762 80270 93589	Homo sapiens (human)
DOID:0111394	mucopolysaccharidosis type IIIB Aliases: MPS3B MPSIIIB Mucopoly-saccharidosis type 3B Mucopolysaccharidosis type 3B N-acetyl-alpha-glucosaminidase deficiency NAGLU deficiency Sanfilippo syndrome type B mucopolysaccharidosis type IIIB (Sanfilippo B)	GNS HGSNAT IDUA NAGLU NAGPA SGSH	138050 2799 3425 4669 51172 6448	Homo sapiens (human)
DOID:0111402	mucopolysaccharidosis type IIID Aliases: GNS deficiency MPS IIID MPS3D Mucopolysaccharidosis type 3D N-acetylglucosamine-6-sulfatase deficiency Sanfilippo syndrome D Sanfilippo syndrome type D	GNS HGSNAT NAGLU SGSH	138050 2799 4669 6448	Homo sapiens (human)
DOID:0110389	retinitis pigmentosa 73 Aliases: RP73	HGSNAT	138050	Homo sapiens (human)
DOID:12783	migraine without aura Aliases: common migraine	Eno2 Tnf	13807 21926	Mus musculus (house mouse)
DOID:14115	toxic shock syndrome Aliases: TSS toxic shock	Eno2 Tnf	13807 21926	Mus musculus (house mouse)
DOID:1800	neuroendocrine carcinoma	Eno2	13807	Mus musculus (house mouse)
DOID:3459	breast carcinoma Aliases: Mammary carcinoma carcinoma of breast	Eno2	13807	Mus musculus (house mouse)
DOID:936	brain disease Aliases: encephalopathy	Eno2	13807	Mus musculus (house mouse)
DOID:9138	stomach carcinoma in situ Aliases: carcinoma in situ of stomach gastric carcinoma in situ	MUTYH PIK3CA PIP5KL1	138429 4595 5290	Homo sapiens (human)
DOID:891	progressive myoclonus epilepsy Aliases: PME progressive myoclonic epilepsy	Epm2a	13853	Mus musculus (house mouse)
DOID:14261	fragile X syndrome Aliases: FRAGILE X MENTAL RETARDATION SYNDROME MARKER X SYNDROME MARTIN-BELL SYNDROME	ALPI ALPP APRT ARSD CAT CD44 DGKK DLD G6PD HSPG2 ICAM5 IDS INPP5K LGALS4 PGD PIK3CA PIK3CB PIK3CD PIK3CG PLCG1 PTEN SDC2 ST8SIA4	139189 1738 248 250 2539 3339 3423 353 3960 414 51763 5226 5290 5291 5293 5294 5335 5728 6383 7087 7903 847 960	Homo sapiens (human)

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