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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 **9876 - 9900** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼	Source
DOID:0112040	non-syndromic X-linked intellectual disability 100 Aliases: MRX100 X-linked mental retardation 100	KIF4A	24137	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080430	developmental and epileptic encephalopathy 65 Aliases: DEE65 early infantile epileptic encephalopathy 65	CYFIP2	26999	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050834	CHARGE syndrome Aliases: CHARGE association	CHD2 CHD6 CHD7 CHD8 CHD9 SEMA3E TP53	1106 55636 57680 7157 80205 84181 9723	Homo sapiens (human)	Alliance of Genome Resources
DOID:9744	type 1 diabetes mellitus Aliases: IDDM insulin-dependent diabetes mellitus type I diabetes mellitus	ACE ACHE ADIPOQ ADRB1 AGER ALDH2 AOC3 APOA1 APOA2 APOB APOC3 APOE APOM AVP BCHE BTC C3 CASP9 CBL CCL11 CCL2 CCL5 CCR2 CCR5 CD14 CD28 CD38 CD40 CD40LG CD80 CD86 CEL CFB CHI3L1 CLEC16A CP CTLA4 CYP27B1 CYP2E1 CYP2R1 DOCK8 E2F1 EDN1 EGFR EIF2AK3 F7 FADS2 FAS FASLG FUCA1 G6PC2 G6PD GAD2 GAL GC GH2 GHR GPX3 HDAC1 HDAC2 HDAC3 HLA-DPA1 HLA-DPB1 HLA-DQA1 HLA-DQB1 HLA-DRB1 HNF1A HP HPR HSD11B2 ICAM1 IFNG IFNGR2 IGF2 IGF2R IGFBP3 IL10 IL15 IL1A IL1R1 IL1RN IL2 IL2RA IL4 IL6 INS IRAK3 ITPR3 LGALS3 LIPC LTA MBL2 NCAM1 NOS2 NOTCH4 PDX1 PLAT PON1 PRF1 PRRC2A PRSS1 PTPRN2 PTPRN REG1A SELE SELL SENP1 SERPINA7 SERPINF1 SLC11A1 SLC18A2 SOD1 SOD2 SREBF2 STAT4 TAP1 TBP TF TGFB1 THBD TIMP1 TLR2 TLR3 TLR4 TNF TNFSF4 UGT1A1 VAV1 VCAM1 VWF WFS1 XYLT1 YY1	1056 1116 11213 120227 1234 1356 1493 153 1571 1594 1636 177 1869 1906 1956 2155 217 23274 2517 2539 2572 2638 2689 2690 2878 29843 3065 3066 3113 3115 3117 3119 3123 3240 3250 3291 335 336 338 3383 345 3458 3460 348 3481 3482 3486 355 3552 3554 3557 3558 3559 356 3565 3569 3586 3600 3630 3651 3710 3958 3990 4049 4153 43 4684 4843 4855 51083 5176 5327 5444 54658 551 5551 55937 5644 57818 5798 5799 590 5967 629 6347 6352 6356 6401 6402 64131 6556 6571 6647 6648 6721 6775 685 6890 6906 6908 6927 7018 7040 7056 7076 7097 7098 7099 7124 718 7292 729230 7409 7412 7450 7466 7528 7916 81704 842 8639 867 8841 929 9370 940 941 9415 942 9451 952 958 959	Homo sapiens (human)	Alliance of Genome Resources
DOID:1927	sphingolipidosis Aliases: sphingolipidoses	ASAH1 SPNS1 SPNS2	124976 427 83985	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070394	developmental and epileptic encephalopathy 108 Aliases: DEE108 early infantile epileptic encephalopathy 108	MAST3	23031	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111334	congenital leptin deficiency Aliases: LEPD leptin deficiency or dysfunction obesity due to congenital leptin deficiency	LEP	3952	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050579	glycogen storage disease XV Aliases: Glycogen storage disease 15 Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency glycogen storage disease type XV	GYG1	2992	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110327	hypertrophic cardiomyopathy 26 Aliases: CMH26 cardiomyopathy familial hypertrophic 26	FLNC	2318	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080628	alopecia-mental retardation syndrome 1	AHSG	197	Homo sapiens (human)	Alliance of Genome Resources
DOID:9427	hypertensive encephalopathy	BDNF PPARA	5465 627	Homo sapiens (human)	Alliance of Genome Resources
DOID:8947	diabetic retinopathy Aliases: Retinal abnormality - diabetes-related	ACE2 ACE ADIPOQ ADM ADRB3 AGER AGT AKR1B1 AKT1 ANGPT1 ANGPT2 AOC3 APOA4 APOB APOC3 APOE APOH AQP4 BDKRB1 BDNF CASP9 CAT CCL2 CCL5 CCN2 CD34 CD59 CDKAL1 CFB CFH CLDN1 CLU DLL4 EDN1 EGFR ELN ENG EP300 EPO F13A1 F3 F7 FLT1 FUCA1 GAPDH GC GGT1 GLO1 GLUL HFE HGF HIF1A HLA-B HLA-DQB1 HLA-DRB1 HRAS ICAM1 IGF1R IL10 IL1A IL6 INS INSR ITGA2 ITGA4 ITGAM ITGB3 KDM1A KEAP1 LTA MMP2 MMP9 NFE2L2 NGF NOS1 NOS3 NPPA NPR3 OCLN PDX1 PGF PIK3CG PON1 PPARGC1A PTEN RBP4 ROBO1 SERPINA4 SERPINE1 SERPINF1 SGF29 SLIT2 SOD1 SOD3 THBS1 TIMM44 TLR4 TNF VCAM1 VEGFA VPS26A VTN VWF WFS1 XRCC1	100506658 10469 10891 112869 1191 133 1490 155 1636 177 183 1906 1956 2006 2022 2033 2056 207 2152 2155 2162 23028 231 2321 2517 2597 2638 2678 2739 2752 284 285 3075 3077 3082 3091 3106 3119 3123 3265 337 338 3383 345 348 3480 350 3552 3569 3586 361 3630 3643 3651 3673 3676 3684 3690 4049 4313 4318 4780 4803 4842 4846 4878 4883 5054 5176 5228 5267 5294 5444 54567 54901 5728 59272 5950 6091 623 627 629 6347 6352 6647 6649 7057 7099 7124 7412 7422 7448 7450 7466 7515 842 847 8639 9076 9353 9370 947 9559 966 9817	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111809	syndromic microphthalmia 2 Aliases: ANOP2 MAA2 MCOPS2 OFCD syndrome cataract-microphthalmia-radiculomegaly-cardiac septal defect syndrome microphthalmia cataracts radiculomegaly and septal heart defects oculofaciocardiodental syndrome syndromic microphthalmia type 2	BCOR	54880	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050474	Netherton syndrome	GBA1	2629	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080537	hypermanganesemia with dystonia 2	SLC39A14	23516	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090068	giant axonal neuropathy 1	GAN	8139	Homo sapiens (human)	Alliance of Genome Resources
DOID:2237	hepatitis Aliases: acute and subacute liver necrosis acute hepatitis acute/subac. necrosis of liver animal hepatitis chronic hepatitis chronic persistent hepatitis	ABO AFP ATP7B F5 GOLM1 IFNG LIPC NOS2 OGG1 PDCD1 SPP1 TF	174 2153 28 3458 3990 4843 4968 51280 5133 540 6696 7018	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080932	primary localized cutaneous amyloidosis 3 Aliases: Amyloidosis cutis dyschromica	GPNMB	10457	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050642	hypochromic microcytic anemia	TNF	7124	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111808	linear skin defects with multiple congenital anomalies 1 Aliases: MCOPS7 MIDAS syndrome Microphthalmia with linear skin defect syndrome microphthalmia-dermal aplasia-sclerocornea syndrome syndromic microphthalmia 7 syndromic microphthalmia type 7	HCCS	3052	Homo sapiens (human)	Alliance of Genome Resources
DOID:11719	oculopharyngeal muscular dystrophy Aliases: Muscular dystrophy, oculopharyngeal	PABPN1	8106	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110355	retinitis pigmentosa 32 Aliases: RP32	CLCC1	23155	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060222	Scheie syndrome Aliases: mucopolysaccharidosis type 1S mucopolysaccharidosis type IS mucopolysaccharidosis type V	IDUA	3425	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:6683	X-linked Aarskog syndrome Aliases: Aarskog-Scott syndrome Greig's syndrome	FGD3	89846	Homo sapiens (human)	Alliance of Genome Resources
DOID:1933	Rubinstein-Taybi syndrome Aliases: Broad Thumb-Hallux syndrome Rubinstein syndrome proximal chromosome 16p13.3 deletion syndrome	CREBBP EP300	1387 2033	Homo sapiens (human)	Alliance of Genome Resources

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