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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 **11876 - 11900** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼	Source
DOID:0080245	Galloway-Mowat syndrome 3	OSGEP	55644	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050813	spondyloepiphyseal dysplasia with congenital joint dislocations Aliases: CHONDRODYSPLASIA WITH MULTIPLE DISLOCATIONS CHST3-Related Skeletal Dysplasia Humero-spinal dysostosis with congenital heart disease Kozlowski Celermajer Tink syndrome Omani Type Spondyloepiphyseal Dysplasia humero-spinal dysostosis humerospinal dysostosis	CHST3	9469	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0080986	Ehlers-Danlos syndrome periodontal type 1	C1R	715	Homo sapiens (human)	Alliance of Genome Resources
DOID:10303	sialadenitis Aliases: Sialoadenitis	CD4	920	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110534	autosomal recessive nonsyndromic deafness 89 Aliases: DFNB89 autosomal recessive deafness 89	KARS1	3735	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080931	primary localized cutaneous amyloidosis 2	IL31RA	133396	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090074	hypogonadotropic hypogonadism 8 with or without anosmia	KISS1R	84634	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112341	hereditary spastic paraplegia 80 Aliases: SPG80 spastic paraplegia 80 autosomal dominant	UBAP1	51271	Homo sapiens (human)	Alliance of Genome Resources
DOID:9651	systolic heart failure	HSPA1A NPPB	3303 4879	Homo sapiens (human)	Alliance of Genome Resources
DOID:14686	Axenfeld-Rieger syndrome Aliases: Anomaly, Rieger's Axenfeld syndrome RGS - Rieger syndrome Rieger's anomaly	FOXC1 PITX2	2296 5308	Homo sapiens (human)	Alliance of Genome Resources
DOID:1440	Machado-Joseph disease Aliases: Azorean disease MJD SCA3 spinocerebellar ataxia 3 spinocerebellar ataxia type 3	ATXN3 GFPT1 GFPT2 SLC18A2	2673 4287 6571 9945	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111103	maturity-onset diabetes of the young type 4 Aliases: MODY type 4 MODY4	PDX1	3651	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090041	torsion dystonia 4	TUBB4A	10382	Homo sapiens (human)	Alliance of Genome Resources
DOID:1793	pancreatic cancer Aliases: Ca body of pancreas Ca head of pancreas Ca tail of pancreas malignant neoplasm of body of pancreas malignant neoplasm of head of pancreas malignant neoplasm of tail of pancreas pancreas neoplasm pancreatic neoplasm pancreatic tumor	A4GNT ABCC2 ABCC3 ABCC5 ABO ACVR1 ACVR1B ACVR2A ADAM15 ADAM9 ADGRE5 ADH1C ADM AGER AGTR2 AHR AKT1 ALB ALDH1A1 ALDH2 ALOX5 ANXA1 APC APOA1 APOE ARPC1A ARTN ATM ATR B3GALT5 BAD BAG3 BAG4 BRCA1 BRCA2 BUB1B CACYBP CAP1 CAPN10 CASP9 CAT CCKAR CCKBR CCR4 CDC42 CFTR CHEK1 CYP17A1 DPYD E2F1 EGF EGFR EIF4A3 EPHA3 EZH2 FANCG FASLG FLT3LG FSCN1 GDNF GNAS HGF HS3ST2 HSPB1 ICAM1 IFNG IGF1R IL10 IL13 IL13RA2 IL1A IL2 IL3 IL4 IL4R IL6 INS ITGA11 ITGA4 ITGA9 KDR KRAS L1CAM LIG3 LUM MAP2K4 MET MGAT4A MGMT MKI67 MMP2 MMP9 MPO MSLN MTAP MTOR MTR MUC16 MUC1 MUC4 MUC5AC MUC6 NCAM1 NGFR NOS2 NTRK1 NUF2 OGG1 PALB2 PALLD PDGFRA PFN1 PPARD PPARG PTCH1 PTGS2 RECQL RELA RET RUNX3 SEL1L SERPINA1 SF3B4 SLCO2B1 SMAD4 SMO SNCG SNW1 SOD1 SOD2 SPP1 TGFA TGFB1 TGFBR2 THBS1 TP53 TYMP UCK2 UGT1A7 VCAM1 WNT9A XPC XPO1 XRCC1	10057 10232 10262 10317 10487 10552 1080 1111 11132 11309 11320 1233 1244 126 133 1586 177 1806 186 1869 1890 1950 1956 196 2042 207 213 2146 216 217 2189 22801 22938 23022 2323 240 2475 2668 27101 2778 28 301 3082 324 3315 335 3383 3458 348 3480 3552 3558 356 3562 3565 3566 3569 3586 3596 3598 3630 3676 3680 3791 3845 3897 3980 4060 4089 4233 4255 4288 4313 4318 4353 4507 4548 4582 4585 4586 4588 4684 472 4804 4843 4914 4968 51146 5156 5216 5265 545 54577 5467 5468 572 5727 5743 5965 5970 5979 6400 6416 6608 6623 6624 6647 6648 6696 672 675 701 7039 7040 7048 7057 7157 7371 7412 7483 7508 7514 7515 79728 83540 842 847 864 8714 8751 8754 886 887 90 9048 91 92 94025 9530 9531 976 9775 9956 998	Homo sapiens (human)	Alliance of Genome Resources
DOID:341	peripheral vascular disease Aliases: arterial occlusive disease	ADM APOH FAS HFE IL6 LIPC MBL2 MSTN SELL TNFRSF11B	133 2660 3077 350 355 3569 3990 4153 4982 6402	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080641	tongue carcinoma	BUB1B	701	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111665	ectodermal dysplasia 10B Aliases: ECTD10B ectodermal dysplasia 10B, hypohidrotic/hair/nail type, autosomal recessive	EDAR	10913	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070082	schizophrenia 6 Aliases: SCZD6	NRG1	3084	Homo sapiens (human)	Alliance of Genome Resources
DOID:5637	pancreatic adenosquamous carcinoma Aliases: Adenosquamous carcinoma of pancreas	TGFB2	7042	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050792	multiple cutaneous and mucosal venous malformations Aliases: VMCM cutaneomucosal venous malformation mucocutaneous venous malformations	TEK	7010	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060170	generalized epilepsy with febrile seizures plus Aliases: GEFS+	GABRG2 SCN10A SCN11A SCN1A SCN1B SCN2A SCN3A SCN4A SCN5A SCN7A SCN8A SCN9A SLC32A1	11280 140679 2566 6323 6324 6326 6328 6329 6331 6332 6334 6335 6336	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110933	nemaline myopathy 11 Aliases: NEM11 nemaline myopathy 11, autosomal recessive	MYPN	84665	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081343	congenital myopathy 9A	FXR1	8087	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112380	muscular dystrophy-dystroglycanopathy type B2 Aliases: MDDGB2 congenital muscular dystrophy POMT2-related	POMT2	29954	Homo sapiens (human)	Alliance of Genome Resources
DOID:2044	drug-induced hepatitis Aliases: Drug-induced chronic hepatitis	ABCC2 CYP2E1 HMGCR	1244 1571 3156	Homo sapiens (human)	Alliance of Genome Resources

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