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GlyCosmos Diseases

List of diseases involving glycan related genes. The information of each database of Glyco-Disease Genes Database (GDGDB), DisGeNET, and Alliance of Genome Resources is integrated into one list.

Source	Last Updated
Alliance of Genome Resources	July 29, 2024
DisGeNET	July 29, 2024
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **3101 - 3125** of **7942** in total

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Disease ID	Disease Name	Gene Symbol ▲	Gene ID	Organism
DOID:0070256	congenital disorder of glycosylation type IId Aliases: CDG IId CDG2D CDGIId	B4galt1	24390	Rattus norvegicus (Norway rat)
DOID:2377	multiple sclerosis Aliases: Generalized multiple sclerosis insular sclerosis	B4galt5 B4galt6 Igf2 Tlr4 Tnf	24483 24835 29260 362275 65196	Rattus norvegicus (Norway rat)
DOID:0080738	Ehlers-Danlos syndrome spondylodysplastic type 1	B4galt7	218271	Mus musculus (house mouse)
DOID:0080738	Ehlers-Danlos syndrome spondylodysplastic type 1	B4galt7	364675	Rattus norvegicus (Norway rat)
DOID:0050588	muscular dystrophy-dystroglycanopathy type B1 Aliases: CMD due to dystroglycanopathy Muscular dystrophy-dystroglycanopathy congenital with impaired intellectual development B1	B4gat1 Fkrp Fktn Large1 Pomgnt1 Pomt1	108902 16795 243853 246179 68273 99011	Mus musculus (house mouse)
DOID:0050560	Walker-Warburg syndrome Aliases: HARD syndrome cerebroocular dysplasia-muscular dystrophy syndrome	B4gat1 Fkrp Fktn Pomgnt1 Pomt1 Pomt2 Rxylt1	108902 216395 217734 243853 246179 68273 99011	Mus musculus (house mouse)
DOID:0111238	congenital muscular dystrophy-dystroglycanopathy type A13 Aliases: MDDGA13 Walker-Warburg syndrome or muscle-eye-brain disease, B3GNT1-related Walker-Warburg syndrome or muscle-eye-brain disease, B4GNT1-related congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A13	B4gat1	108902	Mus musculus (house mouse)
DOID:0050588	muscular dystrophy-dystroglycanopathy type B1 Aliases: CMD due to dystroglycanopathy Muscular dystrophy-dystroglycanopathy congenital with impaired intellectual development B1	B4gat1 Fkrp Fktn Large1 Pomgnt1 Pomt1	293667 308390 361368 362520 362567 84430	Rattus norvegicus (Norway rat)
DOID:0050560	Walker-Warburg syndrome Aliases: HARD syndrome cerebroocular dysplasia-muscular dystrophy syndrome	B4gat1 Fkrp Fktn Pomgnt1 Pomt1 Pomt2 Rxylt1	293667 299841 308390 362520 362567 688673 84430	Rattus norvegicus (Norway rat)
DOID:0111238	congenital muscular dystrophy-dystroglycanopathy type A13 Aliases: MDDGA13 Walker-Warburg syndrome or muscle-eye-brain disease, B3GNT1-related Walker-Warburg syndrome or muscle-eye-brain disease, B4GNT1-related congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A13	B4gat1	293667	Rattus norvegicus (Norway rat)
DOID:11266	Hantavirus hemorrhagic fever with renal syndrome Aliases: HFRS Hemorrhagic fever, Russian Hemorrhagic nephrosonephritis Puumala virus nephropathy	BAAT CAT CHI3L1 ICAM2 IL1R1 IL1RL1 LGALS3 MBD4 MRC1 MUTYH NAAA PTGS1 PTGS2 SLC35D3 TM7SF2 VCAM1	1116 27163 3384 340146 3554 3958 4360 4595 570 5742 5743 7108 7412 847 8930 9173	Homo sapiens (human)
DOID:0080301	atypical hemolytic-uremic syndrome	BAAT DGKE G6PD GPI GRHPR MASP1 PIGA	2539 2821 5277 5648 570 8526 9380	Homo sapiens (human)
DOID:0111054	von Willebrand's disease 3 Aliases: VWD type 3 VWD3 von Willebrand disease type 3 von Willebrand disease type III	BAAT SACM1L SELP	22908 570 6403	Homo sapiens (human)
DOID:4291	fibroepithelial basal cell carcinoma Aliases: Fibroepithelioma of Pinkus Fibroepithelioma of Pinkus type Pinkus tumor	BAAT	570	Homo sapiens (human)
DOID:11132	prostatic hypertrophy	BAD PTGS2 SRD5A1	572 5743 6715	Homo sapiens (human)
DOID:0081292	traumatic brain injury	BAD TP53	572 7157	Homo sapiens (human)
DOID:9269	maple syrup urine disease Aliases: Ketoacidaemia branched chain ketoaciduria	BCKDHA BCKDHB CACNA2D2 CYB5R3 DBT DLD HADH LPL UMOD	1629 1727 1738 3033 4023 593 594 7369 9254	Homo sapiens (human)
DOID:8632	Kaposi's sarcoma Aliases: Kaposi sarcoma Kaposi's sarcoma of Heart Kaposi's sarcoma of anus Kaposi's sarcoma of central nervous system Kaposi's sarcoma of conjunctiva Kaposi's sarcoma of cornea Kaposi's sarcoma of esophagus Kaposi's sarcoma of gastrointestinal sites Kaposi's sarcoma of lung Kaposi's sarcoma of lymph nodes Kaposi's sarcoma of palate Kaposi's sarcoma of penis Kaposi's sarcoma of skin Kaposi's sarcoma of soft tissue Kaposi's sarcoma of soft tissues Kaposi's sarcoma of the CNS Kaposi's sarcoma of the gallbladder Kaposi's sarcoma of the prostate Kaposi's sarcoma, lung Kaposi's sarcoma, skin anal Kaposi's sarcoma cardiac Kaposi's sarcoma central nervous system Kaposi's sarcoma conjunctival Kaposi's sarcoma corneal Kaposi's sarcoma cutaneous Kaposi's sarcoma esophageal Kaposi's sarcoma gallbladder Kaposi's sarcoma gastric Kaposi's sarcoma intestinal Kaposi's sarcoma lymph node Kaposi's sarcoma lymphadenopathic Kaposi's sarcoma palate Kaposi's sarcoma penis Kaposi's sarcoma prostate Kaposi's sarcoma pulmonary Kaposi's sarcoma soft tissue Kaposi's sarcoma	BCKDHB CD1D CERK DCN IGF2R KLRK1 LGALS1 LGALS3 MLYCD PIK3C2A PIK3CA PIK3CB PIK3CD PIK3CG PLCG1 PTGS2 RENBP SDC1 SELE SEMA7A SIGLEC1 SIRT6 SPHK2 VCAM1	1634 22914 23417 3482 3956 3958 51548 5286 5290 5291 5293 5294 5335 56848 5743 594 5973 6382 6401 64781 6614 7412 8482 912	Homo sapiens (human)
DOID:12858	Huntington's disease Aliases: HD Huntington disease Huntington's chorea	BNA6	850608	Saccharomyces cerevisiae S288C
DOID:0111630	familial erythrocytosis 8 Aliases: BPGM deficiency DPGM deficiency ECYT8 bisphosphoglycerate mutase deficiency bisphosphoglyceromutase deficiency diphosphoglycerate mutase deficiency of erythrocyte hemolytic anemia due to diphosphoglycerate mutase deficiency	BPGM	669	Homo sapiens (human)
DOID:0050861	colorectal adenocarcinoma	BRAF CD44 CYP24A1 CYP4F8 GSK3B TP53 TPST1	11283 1591 2932 673 7157 8460 960	Homo sapiens (human)
DOID:0060233	cardiofaciocutaneous syndrome Aliases: CFC syndrome cardio-facial-cutaneous syndrome	BRAF CFC1	55997 673	Homo sapiens (human)
DOID:0111460	cardiofaciocutaneous syndrome 1 Aliases: CFC1	BRAF CFC1	55997 673	Homo sapiens (human)
DOID:4852	pleomorphic xanthoastrocytoma Aliases: Pleomorphic Xantho-astrocytoma	BRAF IDH1 IDH2 MOGS	3417 3418 673 7841	Homo sapiens (human)
DOID:2679	dysembryoplastic neuroepithelial tumor Aliases: Dysembryoplastic Neuroepithelial neoplasm dysembryoplastic neuroepithelial tumour	BRAF IDH1 PIK3CA PIK3CB PIK3CD PIK3CG	3417 5290 5291 5293 5294 673	Homo sapiens (human)

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