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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 **5951 - 5975** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source
DOID:0050559	Fukuyama congenital muscular dystrophy	fktn	100006345	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:12377	spinal muscular atrophy	Atp7a Dpp6 Hexb	24941 29272 294673	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:1270	hereditary hemorrhagic telangiectasia Aliases: Osler hemorrhagic telangiectasia syndrome Osler-Weber-Rendu disease Rendu-Osler-Weber disease	daf-1 sma-6	174044 176829	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0080686	tubular aggregate myopathy 2	Orai1	304496	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:8515	Cor pulmonale Aliases: cardiopulmonary disease pulmonary heart disease	Cx3cl1 Tnf	24835 89808	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0050156	idiopathic pulmonary fibrosis Aliases: FIBROCYSTIC PULMONARY DYSPLASIA IDIOPATHIC PULMONARY FIBROSIS, FAMILIAL cryptogenic fibrosing alveolitis	AKT1 APOA1 BRD4 DDR1 EHMT2 EP300 F3 FGFR2 FOSL2 HLA-DRB1 IL1RL1 IL2RA MMP1 MMP3 MUC1 MUC5B NTRK2 PARP1 PTGS2 SETD2 SFTPA2 SMAD6 STAT3 TERT TFPI THBD TNF	10919 142 2033 207 2152 2263 23476 2355 29072 3123 335 3559 4091 4312 4314 4582 4915 5743 6774 7015 7035 7056 7124 727897 729238 780 9173	Homo sapiens (human)	Alliance of Genome Resources
DOID:2340	craniosynostosis Aliases: Premature closure of cranial sutures	fgfr3.S nog.L nog.S	108704141 373646 399347	Xenopus laevis (African clawed frog)	Alliance of Genome Resources
DOID:0070133	autosomal recessive cutis laxa type IB Aliases: ARCL1B	Efemp2	58859	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080201	Peters plus syndrome Aliases: Krause-Kivlin syndrome Peters anomaly-short limb dwarfism syndrome Peters-plus syndrome	b3glct	780006	Xenopus tropicalis (tropical clawed frog)	Alliance of Genome Resources
DOID:1596	depressive disorder Aliases: mental depression	5-HT1A 5-HT1B Atg6 ChT DAT Dop1R1 Dop2R Fas2 Grd Jra Nrg SerT Tbh dnc mAChR-A nAChRalpha1 nAChRalpha2 nAChRbeta1 nAChRbeta2 sgg	31248 31309 31364 31718 31792 33007 36057 36849 37191 37196 37892 37895 38545 39984 41726 42245 42850 42918 42919 42920	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:1459	hypothyroidism Aliases: Thyroid deficiency Thyroid insufficiency	ADRB2 ANXA1 ANXA2 ANXA5 APOA5 APOC3 APOE AQP3 ARSA BAD BDNF CAT COL1A2 COL2A1 CS CYP19A1 DPYSL2 DUOX1 DUOX2 ENTPD1 F7 GPX1 GRK3 GSN HLA-DQB1 HLA-DRB1 HSD3B1 IFNG IGFBP2 IL10 IL4 L1CAM LIPC MAP1A MAP1B MBP MSTN MYH7 NCAM1 NCOA1 NCOR1 ND3 NEFH NEFL NEFM NGF NOS2 NOS3 NR1D1 PAM PCNA PCSK1 PHKA1 PITX2 PLOD1 PLOD2 PLOD3 PNPLA3 RELN SERPINA7 SHH SLC26A5 SLC2A1 SLC34A1 SLC9A1 SOD1 SOD2 SRD5A1 TG THBD THRA TSHB UCP2 UCP3 WNT3A	116519 1278 1280 1431 154 157 1588 1808 2155 2660 2876 2934 301 302 308 3119 3123 3283 345 3458 348 3485 3565 3586 360 375611 3897 3990 410 4130 4131 4155 4537 4625 4684 4741 4744 4747 4803 4843 4846 50506 5066 5111 5122 5255 5308 5351 5352 53905 5649 572 627 6469 6513 6548 6569 6647 6648 6715 6906 7038 7056 7067 7252 7351 7352 80339 847 8648 89780 8985 953 9572 9611	Homo sapiens (human)	Alliance of Genome Resources
DOID:13366	Stiff-Person syndrome Aliases: Stiff-man syndrome stiff man syndrome	HSD17B4 TRAK1	22906 3295	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050865	tongue squamous cell carcinoma	ADIPOQ BIRC2 BRINP3 ERBB3 ERBB4 FANCB FANCG FANCM FOS FOSB FOSL2 FUBP1 HGF IFNG IL10 IL1RL1 IL2 JAK3 JUN JUNB JUND MAP2K4 MET MMP9 SLC1A5 SLC3A2 SLC7A11 SLC7A5 SOX2 TP53	2065 2066 2187 2189 2353 2354 2355 23657 3082 329 339479 3458 3558 3586 3718 3725 3726 3727 4233 4318 57697 6416 6510 6520 6657 7157 8140 8880 9173 9370	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111447	progressive myoclonus epilepsy 7 Aliases: EPM7 MEAK Myoclonus epilepsy and ataxia due to potassium channel mutation PME type 7 Progressive myoclonic epilepsy due to KV3.1 deficiency Progressive myoclonus epilepsy type 7	Kcnc1	16502	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:4621	holoprosencephaly Aliases: Holoprosencephaly sequence	grd-2 pgap-1 pign-1 ptc-1 ptc-3 wrt-6	171881 173631 174274 179556 180349 180638	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0060765	autosomal dominant Robinow syndrome 2 Aliases: DRS2	Dvl1	13542	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:5082	liver cirrhosis Aliases: Cirrhosis cirrhosis of liver	ace csf1ra fgfr4 gdf3 gpc3 kdr myca mycb parp1 smo vegfaa	100000160 30125 30225 30682 30686 387365 393141 554230 560788 565980 64274	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:0060074	ductal carcinoma in situ	AKR1C3 ANXA1 AR AREG BRCA1 BRCA2 CASP6 ERBB2 ERBB3 ERBB4 FLT1 HIF1A KLK10 MMP2 MMP9 NOTCH4 PAK2 PGR PRKCA PTGES PTGS2 PTK2 RB1 RELA SOCS3 SRC ST14 STAT5A TERT TFF1 TOP2A TP53 TYMP VEGFA	1890 2064 2065 2066 2321 301 3091 367 374 4313 4318 4855 5062 5241 5578 5655 5743 5747 5925 5970 6714 672 675 6768 6776 7015 7031 7153 7157 7422 839 8644 9021 9536	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111551	neurogenic scapuloperoneal syndrome Kaeser type Aliases: Kaeser syndrome Stark-Kaeser syndrome scapuloperoneal syndrome type Kaeser scapuloperoneal syndrome, neurogenic, Kaeser type	Des	13346	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:8577	ulcerative colitis Aliases: Left-sided ulcerative colitis	ABCB1 ACSM3 ADIPOQ ADRB2 ALOX12 ALPI APOA4 BRINP3 BTNL2 CCL7 CCR3 CD40 CHRNA7 COL18A1 COL1A1 COL6A3 CXCR3 CXCR4 CYP24A1 DUOX2 EPHB2 F2 FAS FASLG FCGR2A FGF7 GC GPX1 GPX2 HLA-DQB1 HSPA4 ICAM1 IGF1R IGF2 IL10 IL1RN IL23R KDR MMP1 MUC2 PON1 PON3 PTGER4 PTGS1 PTGS2 RHOA RHOB RHOC SELL SELP SLC11A1 STAT3 THBD TNF TNFAIP3 VEGFA VIPR1	1139 1232 1277 1293 149233 154 1591 2048 2147 2212 2252 239 248 2638 2833 2876 2877 3119 3308 337 3383 339479 3480 3481 355 3557 356 3586 3791 387 388 389 4312 4583 50506 5243 5444 5446 56244 5734 5742 5743 6296 6354 6402 6403 6556 6774 7056 7124 7128 7422 7433 7852 80781 9370 958	Homo sapiens (human)	Alliance of Genome Resources
DOID:863	nervous system disease	Atg7 Atp1a1 Atp1a2 Atp1a3 Atp4a Kif1c Skor1	11928 11944 16562 207667 232975 74244 98660	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:5593	gastric papillary adenocarcinoma Aliases: Papillary adenocarcinoma of stomach	Smo	25273	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0112072	nuclear type mitochondrial complex I deficiency 20 Aliases: ACAD9 deficiency Acyl-CoA dehydrogenase 9 deficiency MC1DN20 mitochondrial complex 1 deficiency due to ACAD9 deficiency	Acadl	25287	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0112204	developmental and epileptic encephalopathy 68 Aliases: DEE68 early infantile epileptic encephalopathy 68	Trak1	67095	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:12849	autistic disorder Aliases: Kanner's syndrome autism autistic disorder of childhood onset childhood autism infantile autism	ANK2 C4B CCL2 CNTNAP2 DAB1 EIF4E EN2 FOXP2 GABRA2 GABRA4 GABRA5 GABRB1 GABRB2 GABRR2 GLO1 GRM8 GRN HLA-DRB1 HRAS HSPD1 IL6 KCNQ3 KDM4C KMT2E LAMB1 MECP2 MET MTR NF1 NLGN1 NLGN3 NLGN4X NTRK2 PECAM1 PIK3CG PTCHD1 RELN RPP25 SETDB1 SHANK2 SLC25A12 SLC6A4 SLC9A9 TNF VLDLR	139411 1600 1977 2020 22871 22941 23081 2555 2557 2558 2560 2561 2570 26047 2739 285195 287 2896 2918 3123 3265 3329 3569 3786 3912 4204 4233 4548 4763 4915 5175 5294 54413 54913 55904 5649 57502 6347 6532 7124 721 7436 8604 93986 9869	Homo sapiens (human)	Alliance of Genome Resources

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