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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 **10776 - 10800** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼	Source
DOID:0080822	aspirin-induced respiratory disease Aliases: aspirin-sensitive asthma	CCR3 CYSLTR2 HLA-DQA1 HLA-DQB1 HLA-DRB1 HLA-DRB3 HLA-DRB4 IL4 PTGS2 TBXA2R	1232 3117 3119 3123 3125 3126 3565 57105 5743 6915	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110480	autosomal recessive nonsyndromic deafness 22 Aliases: DFNB22 autosomal recessive deafness 22	OTOA	146183	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081373	disabling pansclerotic morphea Aliases: disabling pansclerotic morphea of childhood	STAT4	6775	Homo sapiens (human)	Alliance of Genome Resources
DOID:14452	hypokalemic periodic paralysis Aliases: Hypokalemic familial periodic paralysis Periodic paralysis I Westphal disease familial hypokalemic periodic paralysis periodic hypokalemic paralysis	CACNA1S KCNE3 SCN4A SCNN1B SCNN1D SCNN1G TUBB4A TUBB4B TUBB	10008 10382 10383 203068 6329 6338 6339 6340 779	Homo sapiens (human)	Alliance of Genome Resources
DOID:13382	megaloblastic anemia Aliases: Grasbeck-Imerslund syndrome Imerslund-Grasbeck syndrome MGA1 Norwegian type RH-MGA1 megaloblastic anaemia recessive hereditary megaloblastic anaemia 1 recessive hereditary megaloblastic anemia 1	AMN SLC19A2	10560 81693	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110263	cataract 19 multiple types Aliases: CTRCT19	LIM2	3982	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060411	chromosome 1q21.1 deletion syndrome Aliases: 1q21.1 microdeletion syndrome	BCL9 BCL9L	283149 607	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112238	X-linked lissencephaly 2 Aliases: X-linked lissencephaly with abnormal genitalia X-linked lissencephaly with ambiguous genitalia X-linked lissencephaly-corpus callosum agenesis-genital anomalies syndrome XLAG XLAG (X-linked lissencephaly with abnormal genitalia) syndrome XLIS2	ARX	170302	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070280	primary autosomal recessive microcephaly 5 Aliases: MCPH5	ASPM	259266	Homo sapiens (human)	Alliance of Genome Resources
DOID:8741	seborrheic dermatitis Aliases: SKIN SEBORRHEIC Seborrhoeic dermatitis Seborrhoeic eczema seborrhea	CAT TLR2	7097 847	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050671	female breast cancer	ATM CHEK2 CTCF MAST1 PALB2 POLH	10664 11200 22983 472 5429 79728	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050869	villous adenoma	RNF43	54894	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070460	hereditary spastic paraplegia 90B Aliases: SPG90B autosomal recessive spastic paraplegia 90B	SPTSSA	171546	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090004	progressive pseudorheumatoid arthropathy of childhood Aliases: spondyloepiphyseal dysplasia tarda-progressive arthropathy syndrome	CCN6	8838	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110264	cataract 33 Aliases: CTRCT33	BFSP1	631	Homo sapiens (human)	Alliance of Genome Resources
DOID:409	liver disease Aliases: disorder of liver hepatic disorder	ALDH2 CPOX CYP2E1 DPYD FAS FASLG GLUL HFE HLA-DPB1 KDSR KRT18 MBL2 MDM2 PRKCSH SERPINA1 THBD TNF	1371 1571 1806 217 2531 2752 3077 3115 355 356 3875 4153 4193 5265 5589 7056 7124	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050694	Brown-Vialetto-Van Laere syndrome	SLC52A1 SLC52A2 SLC52A3	113278 55065 79581	Homo sapiens (human)	Alliance of Genome Resources
DOID:62	aortic valve disease	ADAMTS19 EGFR ELN NOS3 RBPJ	171019 1956 2006 3516 4846	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111450	progressive myoclonus epilepsy 9 Aliases: EMP9 PME type 9 progressive myoclonic epilepsy due to LMNB2 deficiency progressive myoclonus epilepsy type 9	LMNB2	84823	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111077	pyruvate kinase deficiency of red cells Aliases: PK deficiency hemolytic anemia due to red cell pyruvate kinase deficiency pyruvate kinase deficiency of erythrocyte	PKLR	5313	Homo sapiens (human)	Alliance of Genome Resources
DOID:11981	morbid obesity Aliases: Severe obesity	ACSS2 AGER CCK CPE CTNNBL1 CYP2E1 GHRL HIF1A IL1RN LPIN1 MC4R MCHR1 NPPB NPY2R NTRK2	1363 1571 177 23175 2847 3091 3557 4160 4879 4887 4915 51738 55902 56259 885	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080862	primary ovarian insufficiency 5	NOBOX	135935	Homo sapiens (human)	Alliance of Genome Resources
DOID:13619	extrahepatic cholestasis Aliases: extrahepatic biliary Stasis extrahepatic obstructive biliary disease	ABCA1 ABCC4 CYP27A1 CYP7A1 CYP8B1 HMGCS2 HNF1A LGALS1 NFE2L2 OPRM1 PDGFRB SETD7 SLC22A1 SLC22A2	10257 1581 1582 1593 19 3158 3956 4780 4988 5159 6580 6582 6927 80854	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050986	spinocerebellar ataxia type 40	CCDC88C	440193	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111235	congenital muscular dystrophy-dystroglycanopathy type A12 Aliases: MDDGA12 Walker-Warburg syndrome or muscle-eye-brain disease POMK-related congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A12	POMK	84197	Homo sapiens (human)	Alliance of Genome Resources

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