GlyCosmos Portal

Table Filtering

Disease ID

Disease Name

Gene Symbol

Gene ID

Organism

Source

Display
results per page.

Clear

Submissions

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 **2401 - 2425** of **15957** in total

« First

‹ Prev

…

93

94

95

96

97

98

99

100

101

…

Next ›

Last »
Disease ID	Disease Name	Gene Symbol	Gene ID ▲	Organism	Source
DOID:0060550	ablepharon macrostomia syndrome	TWIST2	117581	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060549	Barber-Say syndrome	TWIST2	117581	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060611	abdominal obesity-metabolic syndrome	Gucy2c Lep Neil1 Pparg Ppargc1a Prkci Slc2a9	117591 14917 16846 18759 19016 19017 72774	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:1920	hyperuricemia Aliases: Blood urate raized uricacidemia	Abcg2 Havcr1 Ins1 Ins2 Lcn2 Slc22a2 Slc2a9 Stat3 Timd2	117591 16333 16334 16819 171283 171284 20518 20848 26357	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:13359	Ehlers-Danlos syndrome Aliases: Cutis hyperelastica elastic skin	Adamts2 B3galt6 B4galt7 Col1a1 Col1a2 Col3a1 Col5a1 Col5a2 Dcn Lox Plod1 Tgfb1 Tnxb	117592 12825 12831 12832 12842 12843 13179 16948 18822 216725 21803 218271 81877	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0112198	spondyloepimetaphyseal dysplasia with joint laxity type 1 Aliases: SEMDJL1 spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures	B3galt6	117592	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050802	Ehlers-Danlos syndrome spondylodysplastic type 2 Aliases: EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 2 Ehlers-Danlos syndrome progeroid type	B3galt6	117592	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060307	autosomal dominant intellectual developmental disorder Aliases: autosomal dominant mental retardation autosomal dominant non-syndromic mental retardation	Ap2m1 Atp2b1 Camk2g Dlg4 Gria1 Hnrnpc Kmt2b Lman2l Setd2 Srrm2 Taf4 Trio Zfp292	11773 12325 13385 14799 15381 214895 223435 228980 235626 30046 67972 75410 75956	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:3082	interstitial lung disease Aliases: ILD	Ap3b1 Bdnf Ccl2 Ccr5 Cd28 Cma1 Cxcl9 Hgf Il1a Il1rn Il2 Il4ra Kit Mmp9 Mpo Muc1 Ngf Nr3c1 Sftpb Sftpd Tgfb1 Tlr9	11774 12064 12487 12774 14815 15234 16175 16181 16183 16190 16590 17228 17329 17395 17523 17829 18049 20296 20388 20390 21803 81897	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:1227	neutropenia	Ap3b1 C5ar1 Csf2 Csf3 Csf3r Fcgr2b Fcgr3 Hc Mki67 Ptafr Stat3 Tnf	11774 12273 12981 12985 12986 14130 14131 15139 17345 19204 20848 21926	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:3753	Hermansky-Pudlak syndrome	Ap3b1 Cxcr4	11774 12767	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060540	Hermansky-Pudlak syndrome 2	Ap3b1	11774	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:2223	platelet storage pool deficiency Aliases: Dense body defect Platelet dense granule deficiency Platelet storage pool defect	Ap3b1	11774	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080448	developmental and epileptic encephalopathy 48 Aliases: DEE48 early infantile epileptic encephalopathy 48	Ap3b2	11775	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111222	centronuclear myopathy 5 Aliases: CNM5	Speg	11790	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:2355	anemia Aliases: anaemia	Ace Bmp6 Epo G6pd Gdf15 Hk1 Il10 Pon1 Slc11a2 Slc4a10 Slc4a1 Slc4a2 Slc4a3 Slc4a4 Slc4a7 Slc4a8 Slc4a9 Tf Tnf Tnfrsf1a Vcam1	117955 24310 24335 24377 24779 24780 24781 24825 24835 25058 25325 25361 25625 25644 25715 266612 29455 295645 315311 84024 84484	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0110839	Usher syndrome type 2C Aliases: USH2C Usher syndrome IIC Usher syndrome type IIC	Slc4a7	117955	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0081361	spastic quadriplegic cerebral palsy 3 Aliases: CPSQ3	ADD1 ADD2 ADD3	118 119 120	Homo sapiens (human)	Alliance of Genome Resources
DOID:3328	temporal lobe epilepsy Aliases: epilepsy, temporal lobe	ABCB1 ACTB ADD1 AGT AK2 AQP4 AVP AZGP1 CACNA1A CDC42 CRHBP CXCR4 CYFIP1 DBN1 DTNBP1 FOS FOXO3 GDNF GLUD1 GLUD2 GLUL GRIK5 GRIN2B GRM1 HCN1 HDAC2 KCNA1 KCNN4 MAP2 MAPT MBP MMP9 MTOR NOS1 NPY1R NPY2R NTRK2 PGF PRICKLE1 PTPRZ1 RASGRF1 RELN RGMA SHH SLC32A1 SLC6A1 VDAC2	118 1393 140679 144165 1627 183 204 2309 23191 2353 2475 2668 2746 2747 2752 2901 2904 2911 3066 348980 361 3736 3783 4133 4137 4155 4318 4842 4886 4887 4915 5228 5243 551 563 5649 56963 5803 5923 60 6469 6529 7417 773 7852 84062 998	Homo sapiens (human)	Alliance of Genome Resources
DOID:10908	hydrocephalus Aliases: hydrocephalus, X-linked hydrocephalus, nonsyndromic, autosomal recessive	ADD1 AQP1 AQP4 CCDC39 CCDC88C CELSR2 HMGB1 HSPD1 HYDIN ITGB1 KIF27 L1CAM MBOAT7 MPDZ NTF3 POMK PPARA SMARCC1 TMEM67	118 1952 3146 3329 339829 358 361 3688 3897 440193 4908 5465 54768 55582 6599 79143 84197 8777 91147	Homo sapiens (human)	Alliance of Genome Resources
DOID:13809	familial combined hyperlipidemia Aliases: familial multiple lipoprotein-type hyperlipidemia hyperbetalipoproteinemia with prebetalipoproteinemia mixed hyperlipidaemia type IIb hyperlipoproteinemia	ADD1 ALPL APOA2 APOB APOC3 APOE LIPC LPL SERPINE1 THBD VWF	118 249 336 338 345 348 3990 4023 5054 7056 7450	Homo sapiens (human)	Alliance of Genome Resources
DOID:11044	gastroschisis	ADD1 IGF1R KIT LRP1 NOS2	118 3480 3815 4035 4843	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080348	Alzheimer's disease 1 Aliases: Alzheimer's disease 1, early onset	Aplp1 Aplp2 App Mpo	11803 11804 11820 17523	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:446	primary hyperaldosteronism Aliases: Cushing syndrome Cushing's syndrome hyperaldosteronism	CACNA1H CLCN2 CYBB CYP11B1 CYP11B2 DRD2 KCNJ5 NR3C1 REN SERPINA1	1181 1536 1584 1585 1813 2908 3762 5265 5972 8912	Homo sapiens (human)	Alliance of Genome Resources
DOID:10579	leukodystrophy	AARS1 ACER3 CLCN2 EIF2S1 EIF2S2 EIF2S3 SDHA	1181 16 1965 1968 55331 6389 8894	Homo sapiens (human)	Alliance of Genome Resources

Download data in CSV format Download data in TSV format Download data in JSON format

Table Filtering

GlyTouCan

GlyComb

GlycoPOST

UniCarb-DR

LM-GlycoRepo

All Resources

Other Information

Tools

Search Tools

International Collaboration

Acknowledgements