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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 **3126 - 3150** of **4649** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source ▲
DOID:11719	oculopharyngeal muscular dystrophy Aliases: Muscular dystrophy, oculopharyngeal	PABPN1	8106	Homo sapiens (human)	Alliance of Genome Resources
DOID:1172	hyperlipoproteinemia type IV Aliases: Endogenous hyperlipidaemia Fredrickson type IV Lipidemia Fredrickson type IV hyperlipoproteinemia Fredrickson type IV lipidaemia VLDL hyperlipoproteinemia familial hypertriglyceridemia	APOA5 APOC2	116519 344	Homo sapiens (human)	Alliance of Genome Resources
DOID:11720	distal myopathy Aliases: distal muscular dystrophy	LDB3 MYH15 MYH1 MYH7	11155 22989 4619 4625	Homo sapiens (human)	Alliance of Genome Resources
DOID:11721	glycogen storage disease VII Aliases: Glycogen storage disease 7 Glycogen storage disease, type VII Muscle phosphofructokinase deficiency glycogen storage disease type VII phosphofructokinase myopathy	HIF1A PFKM	3091 5213	Homo sapiens (human)	Alliance of Genome Resources
DOID:11722	myotonic dystrophy type 1 Aliases: Dystrophia myotonica Steinert disease congenital myotonic dystrophy myotonic dystrophy of Steinert	LDB3 MBNL1 MBNL2 SIX4 SIX5	10150 11155 147912 4154 51804	Homo sapiens (human)	Alliance of Genome Resources
DOID:11724	limb-girdle muscular dystrophy Aliases: Erb's muscular dystrophy Leyden-Mbius muscular dystrophy limb girdle muscular dystrophy	FER1L5 FER1L6 FKRP MYOF SGCG	26509 6445 654463 79147 90342	Homo sapiens (human)	Alliance of Genome Resources
DOID:11725	Cornelia de Lange syndrome Aliases: Brachmann de Lange syndrome De Lange syndrome	NIPBL PDS5A SMC1A SMC3	23244 25836 8243 9126	Homo sapiens (human)	Alliance of Genome Resources
DOID:11726	Emery-Dreifuss muscular dystrophy Aliases: EDMD	EMD HOOK1 LEMD2 LEMD3 LMNA LMNB1 LMNB2 SYNE1 SYNE2	2010 221496 23224 23345 23592 4000 4001 51361 84823	Homo sapiens (human)	Alliance of Genome Resources
DOID:11727	facioscapulohumeral muscular dystrophy Aliases: Landouzy Dejerine muscular dystrophy Landouzy-Dejerine muscular dystrophy Muscular dystrophy, Landouzy-Dejerine	FAT1 LARGE1	2195 9215	Homo sapiens (human)	Alliance of Genome Resources
DOID:11729	Lyme disease Aliases: Bannwarth syndrome Bannworth's syndrome Lyme borreliosis Neurological Lyme disease lyme neuroborreliosis neuroborreliosis	PLAUR	5329	Homo sapiens (human)	Alliance of Genome Resources
DOID:11758	iron deficiency anemia	APP ATP7A C1QA FN1 GPX1 HFE HP IL6 IREB2 ITGA2 PON1 SLC11A2 SLC40A1 SLC4A1 TF TFRC TNF	2335 2876 30061 3077 3240 351 3569 3658 3673 4891 538 5444 6521 7018 7037 712 7124	Homo sapiens (human)	Alliance of Genome Resources
DOID:11759	hypochromic anemia Aliases: ANEMIA HYPOCHROMIC	SLC11A2	4891	Homo sapiens (human)	Alliance of Genome Resources
DOID:118	pericardial effusion	IL10	3586	Homo sapiens (human)	Alliance of Genome Resources
DOID:11801	protein-energy malnutrition	ALB CYP19A1 LIPC	1588 213 3990	Homo sapiens (human)	Alliance of Genome Resources
DOID:11823	hepatorenal syndrome	TLR4 TNF	7099 7124	Homo sapiens (human)	Alliance of Genome Resources
DOID:11829	degenerative myopia Aliases: degenerative progressive high myopia pathological myopia progressive high (degenerative) myopia progressive high myopia	HLA-DQB1 LRP2	3119 4036	Homo sapiens (human)	Alliance of Genome Resources
DOID:11830	myopia Aliases: near vision near-sightedness short-sightedness	ADORA2A COL2A1 HGF LAMA2 LOXL3 LRP2 LRPAP1 LUM MMP2 P4HA2 PRIMPOL SLC39A5 ZNF644	1280 135 201973 283375 3082 3908 4036 4043 4060 4313 84146 84695 8974	Homo sapiens (human)	Alliance of Genome Resources
DOID:11832	visual epilepsy Aliases: epilepsy, visual	ABAT ABCB1 ABCC2 ABCC8 ADAMTS1 APEX1 APP ASPM BAD BAG3 BRD1 C7 CDKL5 CHRNA3 CIT CNTNAP2 CSTB DKK1 DRD3 EGR1 ENO2 EPO ERBB4 FAS FCGR2A FCGR3A FGFR1 GABBR1 GAP43 GLUD1 GLUD2 GLUL GRIA1 GRIK5 GRM8 HCN1 HCN2 HDAC2 HRH3 HSPA1A HSPA5 IFNG IL6R IL6ST KCNA1 KCNJ11 KDM3B L2HGDH MAP1B MARCKS MBD3 MECP2 MSH2 NFE2L2 NGFR NPY1R NPY5R NR3C1 NRG1 PAFAH1B1 PAWR PCSK1 PDGFB PLD1 PLD2 PLP1 PRICKLE1 PTGS2 PTPRZ1 REG3G RRM1 RTN4 SCN2B SLC12A2 SLC38A1 SLC38A2 SLC38A3 SLC6A11 SMO SPP1 SREBF2 SYT1 SYT4 TACR3 TNF TNFRSF1A TNFRSF1B TUBA1A VDAC1 VDAC2 VTN WFS1 WNT2 XRCC1 YWHAZ	10991 11113 11255 1136 1244 130120 144165 1476 18 1814 1958 2026 2056 2066 2212 2214 2260 22943 23774 2550 259266 2596 26047 2746 2747 2752 2890 2901 2908 2918 3066 3084 328 3303 3309 3458 348980 351 355 3570 3572 3736 3767 4082 4131 4204 4436 4780 4804 4886 4889 5048 5074 5122 5155 51780 5243 5337 5338 5354 53615 54407 57142 572 5743 5803 610 6240 6327 6538 6558 6608 6696 6721 6792 6833 6857 6860 6870 7124 7132 7133 730 7416 7417 7448 7466 7472 7515 7534 7846 79944 81539 9510 9531	Homo sapiens (human)	Alliance of Genome Resources
DOID:11836	clubfoot Aliases: Congenital equinovarus Equinovarus deformity of foot congenital clubfoot congenital talipes equinovarus	CYP1A1 FLNB FRAS1 GLI3 GRIP1 HOXD13 PITX1 RET	1543 2317 23426 2737 3239 5307 5979 80144	Homo sapiens (human)	Alliance of Genome Resources
DOID:1184	nephrotic syndrome	A2M ACAT1 ACE ALB ALOX5 APOA1 APOB APOC2 APOC3 APOE CD2AP CFI CFL1 COQ2 COQ6 CPB2 CTSL CTSV DGAT1 ECE1 EDNRA EPO FAT1 GAPVD1 GP1BA GPAM GPX1 GPX3 IGFALS IL1RN IL4 IL5 ITSN2 KCNJ1 KIRREL1 KIRREL2 KIRREL3 LIPC NOS1 NPHS1 NPHS2 NR3C1 PLA2G7 PLCE1 PPARGC1A PTGS2 SCNN1A SCNN1B SERPINC1 SGPL1 SH3KBP1 SOAT2 SOD2 STOM TFPI TNFRSF11B VLDLR	1072 10891 1361 1514 1515 1636 1889 1909 2 2040 2056 213 2195 23607 240 26130 27235 2811 2876 2878 2908 30011 335 338 3426 344 345 348 3483 3557 3565 3567 3758 38 3990 462 4842 4868 4982 50618 51004 51196 55243 5743 57678 6337 6338 6648 7035 7436 7827 7941 84063 8435 84623 8694 8879	Homo sapiens (human)	Alliance of Genome Resources
DOID:11847	coronary thrombosis Aliases: Coronary artery thrombosis	GP6	51206	Homo sapiens (human)	Alliance of Genome Resources
DOID:11870	Pick's disease Aliases: Dementia in Pick's disease LOBAR ATROPHY OF BRAIN PICK DISEASE OF BRAIN Pick disease	ATF2 CREB1 FOS MAP2K6 MAPT SNCA SNCB TARDBP	1385 1386 23435 2353 4137 5608 6620 6622	Homo sapiens (human)	Alliance of Genome Resources
DOID:1188	mononeuropathy	GAL	51083	Homo sapiens (human)	Alliance of Genome Resources
DOID:1192	peripheral nervous system neoplasm Aliases: neoplasm of peripheral nerve nerve sheath neoplasm tumor of PNS	PTEN	5728	Homo sapiens (human)	Alliance of Genome Resources
DOID:11934	head and neck cancer Aliases: head and neck neoplasm head and neck tumours head/neck neoplasm tumor of head and neck	CYP1A1 KDM4C	1543 23081	Homo sapiens (human)	Alliance of Genome Resources

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