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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 **12001 - 12025** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼	Source
DOID:0050699	Dent disease Aliases: Dent disease 1 Dent disease 2 Dent's disease	CLCN3 CLCN5	1182 1184	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081113	Baraitser-Winter syndrome 2	ACTG1	71	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070054	Vulto-van Silfout-de Vries syndrome Aliases: IDDISBAS MRD24 VSVS autosomal dominant mental retardation 24 autosomal dominant non-syndromic intellectual disability 24 intellectual developmental disorder with impaired expressive speech and behavioral abnormalities, with or without seizures	DEAF1	10522	Homo sapiens (human)	Alliance of Genome Resources
DOID:3454	brain infarction	ADIPOQ ADM ADNP ALDH2 CACNA2D1 CALCRL CD8A CFH CTSB CYP11B1 CYP11B2 CYP2R1 GPNMB GZMB HGF HIF1A HLA-DQA1 HMGB1 HTR2B ICAM1 IGF2 IL15 IL2 KCNK6 MDK MMP14 MMP8 MMP9 MSI1 NES PARG PDGFB PRCP SCN7A TBXAS1 TNF TPCN2	10203 10457 10763 120227 133 1508 1584 1585 217 219931 23394 3002 3075 3082 3091 3117 3146 3357 3383 3481 3558 3600 4192 4317 4318 4323 4440 5155 5547 6332 6916 7124 781 8505 925 9370 9424	Homo sapiens (human)	Alliance of Genome Resources
DOID:11168	anogenital venereal wart Aliases: Anogenital Human papilloma Virus Infectious Disease Anogenital warts Genital warts genital wart virus infectious disease venereal wart	CTLA4 IL10 IL12B IL21 IL2 IL4 IL6 KLRK1 MYD88 NCR1 PDCD1 PTPN11 PTPN6 SERPINF1 TGFB1 TLR2 TLR3 TLR4 TLR7 TLR8 TLR9 TNF TNFRSF18	1493 22914 3558 3565 3569 3586 3593 4615 51284 51311 5133 5176 54106 5777 5781 59067 7040 7097 7098 7099 7124 8784 9437	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112215	developmental and epileptic encephalopathy 79 Aliases: DEE79 early infantile epileptic encephalopathy 79	GABRA5	2558	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111051	platelet-type bleeding disorder 18 Aliases: BDPLT18 bleeding disorder due to CalDAG-GEFI deficiency bleeding disorder due to calcium- and DAG-regulated guanine exchange factor-1 deficiency	RASGRP2	10235	Homo sapiens (human)	Alliance of Genome Resources
DOID:8501	fundus dystrophy Aliases: Retinal Dystrophy	ABCA4 PRPH2	24 5961	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081180	autosomal recessive intellectual developmental disorder 12	ST3GAL3	6487	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0080553	congenital disorder of glycosylation Iaa Aliases: congenital disorder of glycosylation 1aa	NUS1	116150	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080288	spinocerebellar ataxia 46	PLD3	23646	Homo sapiens (human)	Alliance of Genome Resources
DOID:9182	pemphigus	CAST CAT CD36 CD40 CD40LG HLA-DQA1 HLA-DQB1 HLA-DRB1 IL2 MBL2	3117 3119 3123 3558 4153 831 847 948 958 959	Homo sapiens (human)	Alliance of Genome Resources
DOID:1761	Melkersson-Rosenthal syndrome Aliases: Cheilitis granulomatosa of Mescher-Melkersson-Rosenthal Melkersson's syndrome	HLA-A	3105	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111970	immunodeficiency 10 Aliases: CID due to STIM1 deficiency IMD10 STIM1 deficiency combined immunodeficiency due to STIM1 deficiency immune dysfunction with T-cell inactivation due to calcium entry defect 2	STIM1	6786	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112277	immunodeficiency 79 Aliases: IMD79	CD4	920	Homo sapiens (human)	Alliance of Genome Resources
DOID:12802	mucopolysaccharidosis I Aliases: Hurler syndrome Hurler-Scheie syndrome Lipochondrodystrophy MPS I - Hurler syndrome Mucopolysaccharidosis, MPS-I Mucopolysaccharidosis, type 1 iduronidase deficiency disease	IDUA	3425	Homo sapiens (human)	Glyco-Disease Genes Database Glyco-Disease Genes Database Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0080453	developmental and epileptic encephalopathy 25 Aliases: DEE25 developmental and epileptic encephalopathy 25, with amelogenesis imperfecta early infantile epileptic encephalopathy 25	SLC13A5	284111	Homo sapiens (human)	Alliance of Genome Resources
DOID:10976	membranous glomerulonephritis Aliases: membranous nephropathy	A2M ABCA1 APOE C3 C7 CD40 CDKN1B CFB CFH HLA-DQA1 LRP2 LRPAP1 MME MMP9 NPHS1 NPHS2 NPNT PTGER3 PTPRU RHOA SHH SPARC TBXAS1 TF	10076 1027 19 2 255743 3075 3117 348 387 4036 4043 4311 4318 4868 5733 629 6469 6678 6916 7018 718 730 7827 958	Homo sapiens (human)	Alliance of Genome Resources
DOID:219	colon cancer	ACTR1A ACVR2A AKT1 AKT3 APC ARID1A ATR AZGP1 BAD BRCA1 BRD4 CALR CASP7 CBS CCL2 CHAF1A CHKA CHUK COL6A3 CRIPTO CYP24A1 CYP2E1 EZH2 FGFR4 GPX1 GSK3B HS3ST2 HSP90AA1 IKBKB IL10 IL7R JUNB KDM3A LCN2 LGALS3 LIF LRP1B MAP2K3 MAPK14 MKI67 MLH1 MMP3 MRE11 MSH2 MTOR MUC2 NCOA6 NF1 PLCG1 PPARG PRKAA1 PTEN PTGER3 PTPN13 REG1A REG1B RICTOR RNF43 RPS6KB1 SLC7A5 SLCO1B3 SMAD4 SMO SRC STAT3 TGFB1 TGFB3 TGFBR2 TNFAIP3 TNFRSF10A TNFRSF10B TNFRSF10C TNFRSF10D UBR5 VEGFA WNT5A	10000 10036 10121 1119 1147 1293 1432 1571 1591 207 2146 2264 23054 23476 2475 253260 28234 2876 2932 324 3320 3551 3575 3586 3726 3934 3958 3976 4089 4288 4292 4314 4361 4436 4583 4763 51366 5335 53353 545 5468 54894 5562 55818 5606 563 572 5728 5733 5783 5967 5968 6198 6347 6608 6714 672 6774 6997 7040 7043 7048 7128 7422 7474 811 8140 8289 840 875 8793 8794 8795 8797 92 9956	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050562	West syndrome	ABAT CFL1 MC2R STXBP1	1072 18 4158 6812	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110349	osteogenesis imperfecta type 9 Aliases: OI9 osteogenesis imperfecta type IX	PPIB	5479	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112024	non-syndromic X-linked intellectual disability 58 Aliases: MRX58 X-linked mental retardation 58	TSPAN7	7102	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060307	autosomal dominant intellectual developmental disorder Aliases: autosomal dominant mental retardation autosomal dominant non-syndromic mental retardation	AP2M1 AUTS2 CAMK2G DIP2B GRIA1 HNRNPC KMT2B LMAN2L MBD5 MED13 RFX7 SET SETD2 SRRM2 TAF4 TLK2 TRIO ZNF292	11011 1173 23036 23524 26053 2890 29072 3183 55777 57609 6418 64864 6874 7204 81562 818 9757 9969	Homo sapiens (human)	Alliance of Genome Resources
DOID:4906	small intestine adenocarcinoma Aliases: small intestinal adenocarcinoma	MAP2K1 MAP2K2	5604 5605	Homo sapiens (human)	Alliance of Genome Resources
DOID:3324	mood disorder Aliases: episodic mood disorder	ADCY9 AVPR1B BDNF HCN1	115 348980 553 627	Homo sapiens (human)	Alliance of Genome Resources

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