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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 **776 - 800** of **4649** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲	Source
DOID:4251	conjunctival disease	CLU IL6 TNFAIP6	1191 3569 7130	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081230	autosomal recessive intellectual developmental disorder 69	ZBTB11	27107	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111787	frontometaphyseal dysplasia 2 Aliases: FMD2	MAP3K7	6885	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080661	nonsyndromic aplasia cutis congenita	BMS1	9790	Homo sapiens (human)	Alliance of Genome Resources
DOID:3526	cerebral infarction Aliases: CVA - Cerebral infarction Cerebral infarct	A2M ACE ADORA1 AGER ANXA1 APOA5 APOB APOE BRINP3 CBS EPHX2 F2 F5 F7 FOLH1 GPX3 GRIN1 GSN HIF1A HLA-A HLA-B HLA-DRB1 HMGB1 HNF1A ICAM1 IFNB1 ITGA9 ITGAM KALRN KCNN4 LIPG LPA LTA MAP2 MTR MYRF NR1H3 PARK7 PDX1 PLA2G7 PON1 PON2 PRKCH PROS1 PTGIS RBP4 SERPINE1 SERPING1 SLC6A1 SOS1 TBXAS1 THBD TNF TNFRSF11B TOMM40 TYMS VIM	10062 10452 11315 116519 134 1636 177 2 2053 2147 2153 2155 2346 2878 2902 2934 301 3091 3105 3106 3123 3146 338 3383 339479 3456 348 3651 3680 3684 3783 4018 4049 4133 4548 4982 5054 5444 5445 5583 5627 5740 5950 6529 6654 6916 6927 7056 710 7124 7298 7431 745 7941 875 8997 9388	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070389	developmental and epileptic encephalopathy 103 Aliases: DEE103 early infantile epileptic encephalopathy 103	KCNC2	3747	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110526	autosomal recessive nonsyndromic deafness 79 Aliases: DFNB79 autosomal recessive deafness 79	TPRN	286262	Homo sapiens (human)	Alliance of Genome Resources
DOID:9446	cholangitis	CCL2 NRAS	4893 6347	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110361	retinitis pigmentosa 75 Aliases: RP75	AGBL5	60509	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110004	3-methylglutaconic aciduria type 3 Aliases: 3-methylglutaconic aciduria type III Costeff optic atrophy syndrome Costeff syndrome Iraqi-Jewish optic atrophy plus MGA3 autosomal recessive optic atrophy plus syndrome autosomal recessive optic atrophy type 3 infantile optic atrophy with chorea and spastic paraplegia	OPA3	80207	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110633	rigid spine muscular dystrophy 1 Aliases: Eichsfeld type congenital muscular dystrophy MDRS1 RSMD1 RSS SEPN1-related myopathy classic MmD classic multiminicore disease classic multiminicore myopathy congenital merosin-positive muscular dystrophy with early spine rigidity desmin-related myopathy with Mallory bodies desmin-related myopathy with Mallory body-like inclusions early-onset desmin-related myopathy rigid spine syndrome severe classic form minicore myopathy severe classic form multicore myopathy severe classic form multiminicore disease	SELENON	57190	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050593	primary congenital glaucoma	CDK7	1022	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060428	SATB2-associated syndrome Aliases: 2q32-q33 microdeletion syndrome 2q32q33 microdeletion syndrome Glass syndrome chromosome 2q32-q33 deletion syndrome monosomy 2q32 monosomy 2q32-q33 monosomy 2q32q33	SATB2	23314	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081001	Cowden syndrome 5	PIK3CA	5290	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050787	juvenile polyposis syndrome	ACVR2A ACVR2B BMP2 BMP4 BMPR1A BMPR1B HIVEP1 HIVEP2 HIVEP3 SMAD4 SMAD5	3096 3097 4089 4090 59269 650 652 657 658 92 93	Homo sapiens (human)	Alliance of Genome Resources
DOID:1210	optic neuritis	AQP4 CAT CCR5 HLA-DQB1 HLA-DRB1 MOG NEFH SOD2	1234 3119 3123 361 4340 4744 6648 847	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050539	Charcot-Marie-Tooth disease type 2 Aliases: hereditary motor and sensory neuropathy Guadalajara neuronal type hereditary motor and sensory neuropathy Okinawa type hereditary motor and sensory neuropathy type 2	RAB7A	7879	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111373	familial progressive hyperpigmentation with or without hypopigmentation Aliases: FPHH MUH melanosis universalis hereditaria	KITLG	4254	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:0110942	autosomal recessive osteopetrosis 1 Aliases: OPTB1 autosomal recessive Albers-Schonberg disease infantile malignant osteopetrosis 1	ATP6V0A1 ATP6V0A2 ATP6V0A4	23545 50617 535	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112348	hereditary spastic paraplegia 78 Aliases: SPG78 spastic paraplegia 78 autosomal recessive	ATP13A2	23400	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111644	autosomal recessive nonsyndromic deafness 110 Aliases: DFNB110 autosomal recessive deafness 110	COCH	1690	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060404	chromosome 17q12 deletion syndrome Aliases: 17q12 microdeletion syndrome	AATF ACACA ACACB DUSP14	11072 26574 31 32	Homo sapiens (human)	Alliance of Genome Resources
DOID:8805	intermediate coronary syndrome Aliases: Angina at rest Anginal chest pain at rest Impending infarction Preinfarction angina Unstable angina Worsening angina	ACE AGT AGTR1 AKT1 APOA4 BDNF EDN1 F7 HMGCR ITGA2 ITGAM ITIH4 MMP1 PTEN SELP SERPINC1 SOD3	1636 183 185 1906 207 2155 3156 337 3673 3684 3700 4312 462 5728 627 6403 6649	Homo sapiens (human)	Alliance of Genome Resources
DOID:4617	periapical granuloma Aliases: Apical granuloma	CCL7 CCR2 CCR3	1232 6354 729230	Homo sapiens (human)	Alliance of Genome Resources

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