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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 **301 - 325** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source
DOID:0080918	polymicrogyria	TUBA1A TUBA1B TUBA1C TUBA4A WDR62	10376 284403 7277 7846 84790	Homo sapiens (human)	Alliance of Genome Resources
DOID:11119	Gilles de la Tourette syndrome Aliases: Guinon's disease Psychogenic tics Tourette syndrome motor-verbal tic disorder	DAT Dop2R	33007 36849	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0110927	nemaline myopathy 3 Aliases: NEM3 congenital myopathy 2A nemaline myopathy 3, autosomal dominant or recessive	Acta1	29437	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0111459	classic galactosemia Aliases: GALT deficiency galactose-1-phosphate uridyltransferase deficiency galactosemia type 1	ZK1058.3	175506	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0070536	neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures Aliases: NEDHLSS	Ca-alpha1D	34950	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0060704	lymphoproliferative syndrome Aliases: Combined immunodeficiency due to ITK deficiency	smf-1 smf-2 smf-3	177044 180939 191766	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0080899	lung pleomorphic carcinoma	Slc3a2 Slc7a5	17254 20539	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:9778	irritable bowel syndrome Aliases: IBD Irritable colon	rnf43	100491274	Xenopus tropicalis (tropical clawed frog)	Alliance of Genome Resources
DOID:10003	sensorineural hearing loss Aliases: High Frequency Hearing Loss High frequency deafness Perceptive deafness Perceptive hearing loss Perceptive hearing loss or deafness Sensorineural Deafness Sensory hearing loss central hearing loss high-frequency hearing loss	Atpalpha Ctl2 Rh5 Rh6 dysc nrv1 nrv2 scb wfs1	33952 33953 34615 36692 39533 41889 42679 43440 48971	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0110443	dilated cardiomyopathy 1B	fktn	100124956	Xenopus tropicalis (tropical clawed frog)	Alliance of Genome Resources
DOID:5603	T-cell acute lymphoblastic leukemia Aliases: Precursor T Lymphoblastic Leukemia T Acute Lymphoblastic Leukemia T-cell acute lymphocytic leukaemia T-cell leukemia T-cell lymphoblastic leukemia/lymphoma acute T cell leukemia precursor T-lymphoblastic lymphoma/leukemia	AKR1C3 CARD11 CXCR4 JAK1 JAK3 NBN NUP98 PDGFRA	3716 3718 4683 4928 5156 7852 84433 8644	Homo sapiens (human)	Alliance of Genome Resources
DOID:11193	syndactyly Aliases: symphalangism symphalangy webbing of digits	Gli3	14634	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:9810	polyarteritis nodosa	CX3CL1 ELN GDNF GFRA1 VEGFA	2006 2668 2674 6376 7422	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050851	glomerulosclerosis	ace	565980	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:0081401	autosomal dominant distal hereditary motor neuronopathy 13	BSCL2	26580	Homo sapiens (human)	Alliance of Genome Resources
DOID:865	vasculitis Aliases: Angiitis	Il10 Nos3 Serpina3c Serpina3n	24600 24794 24795 25325	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:574	peripheral nervous system disease	Artn	362572	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0111705	oculoectodermal syndrome Aliases: Toriello-Lacassie-Droste syndrome aplasia cutis congenita-epibulbar dermoids syndrome	Kras	16653	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060249	scoliosis	fbn-1 gon-1	176076 177850	Caenorhabditis elegans	Alliance of Genome Resources
DOID:13129	severe pre-eclampsia Aliases: Severe pre-eclampsia, with delivery antepartum severe pre-eclampsia postpartum severe pre-eclampsia severe preeclampsia	Acvr1 Lnpep Rbp4	171105 25703 79558	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:2841	asthma Aliases: bronchial hyperreactivity chronic obstructive asthma chronic obstructive asthma with acute exacerbation chronic obstructive asthma with status asthmaticus	ABCB1 ABO ACE ACSL3 ADAM33 ADAM8 ADH5 ADORA1 ADORA2A ADRB2 AGER AGTR1 AGTR2 ALOX5 AMBP BDKRB2 BDNF BMPR1B BMPR2 C3 C3AR1 C5 C5AR1 CAT CCL11 CCL1 CCL24 CCL2 CCL5 CCL7 CCR2 CCR3 CCR4 CCR5 CCR9 CD14 CD209 CD28 CD40 CD86 CDH1 CFTR CHAT CHI3L1 CHIA CHML CHRM1 CHRM2 CHRM3 CLCA1 CMA1 CRHR1 CRHR2 CSF2 CSF2RB CSF3 CTLA4 CX3CL1 CXCR3 CYP2E1 CYSLTR1 CYSLTR2 DCN DEFB1 DPP10 EDN1 EDNRB EGFR EGR1 EPX F2 F2RL1 F7 FAS FCER1A FCGR2A FCGR3A FGA GATA3 GC GSTO2 HAVCR1 HDAC2 HLA-B HLA-DPA1 HLA-DPB1 HLA-DQA1 HLA-DQA2 HLA-DQB1 HLA-DRA HLA-DRB1 HLA-DRB3 HLA-G HMGCR HP ICAM1 IFNG IFNGR1 IFNL1 IL10 IL12B IL13 IL13RA1 IL13RA2 IL15 IL16 IL17A IL18R1 IL19 IL1A IL1RL1 IL1RN IL21 IL22 IL2 IL2RA IL2RB IL3 IL4 IL4R IL5 IL5RA IL6 IL9 IL9R IRAK3 ITGB3 ITGB6 ITPR1 KDR LEP LGALS3 LTA4H LTA MBL2 MEFV MIF MMP9 MPO MUC1 MUC2 MUC5AC MUC5B MUC7 MYLK NFE2L2 NGF NOD2 NOS1 NOS2 NOS3 NPSR1 NR3C1 NTF3 NTRK1 ORMDL1 ORMDL2 P2RY12 PARP1 PDGFB PGF PLA2G4A PLA2G7 PLAU PRF1 PRG2 PRMT5 PROC PTGDR2 PTGDR PTGER3 PTGS2 RHOA RUNX3 SERPINA1 SERPINE1 SFTPA1 SFTPA2 SFTPB SFTPC SFTPD SLC18A3 SLC22A1 SLC5A7 SLC6A4 SOD2 STAT1 STAT4 STAT6 TACR1 TACR2 TAP1 TBXA2R TGFB1 THBD TLR10 TLR1 TLR2 TLR3 TLR4 TLR6 TLR9 TNC TNF TRPA1 VEGFA	101 10333 10419 1080 10800 10803 1103 1116 11213 1122 11251 1128 1129 1131 1179 119391 1215 1232 1233 1234 128 134 135 1394 1395 142 1437 1439 1440 1493 154 1571 1634 1636 1672 177 185 186 1906 1910 1956 1958 2147 2150 2155 2181 2205 2212 2214 2243 240 259 2625 2638 26762 27159 28 282618 2833 2908 29095 29949 3066 30835 3106 3113 3115 3117 3118 3119 3122 3123 3125 3135 3156 3240 3371 3383 3458 3459 355 3552 3557 3558 3559 3560 3562 3565 3566 3567 3568 3569 3578 3581 3586 3593 3596 3597 3598 3600 3603 3605 3690 3694 3708 3791 387 387129 3952 3958 4048 4049 4153 4210 4282 4318 4353 4582 4583 4586 4589 4638 4780 4803 4842 4843 4846 4908 4914 5054 50616 5155 5228 5243 5265 5321 5328 54106 5551 5553 5624 57105 5729 5733 5743 57628 59067 60482 624 627 6346 6347 6352 6354 6356 6369 6376 64127 6439 6440 6441 64805 6532 653509 6572 658 6580 659 6648 6772 6775 6778 6865 6869 6890 6915 7040 7056 7096 7097 7098 7099 7124 718 719 727 727897 728 729230 729238 7422 7941 80332 81793 8288 847 864 8809 8989 9173 929 940 94101 942 958 999	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111547	retinal arterial tortuosity Aliases: RATOR retinal arteriolar tortuosity retinal hemorrhage with vascular tortuosity tortuosity of retinal arteries	Col4a1 vkg	33726 33727	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0080924	bilateral perisylvian polymicrogyria	ADGRG1	9289	Homo sapiens (human)	Alliance of Genome Resources
DOID:439	neuromuscular junction disease	IDH2	854303	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0060642	recessive dystrophic epidermolysis bullosa Aliases: RDEB, Hallopeau-Siemens type autosomal recessive dystrophic epidermolysis bullosa generalisata gravis autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type	Col7a1 Grip1	12836 74053	Mus musculus (house mouse)	Alliance of Genome Resources

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