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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 **4026 - 4050** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▲	Organism	Source
DOID:5374	pilomatrixoma Aliases: Pilomatricoma benign pilomatricoma	CTNNB1	1499	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070049	autosomal dominant intellectual developmental disorder 19 Aliases: MRD19 autosomal dominant mental retardation 19 autosomal dominant non-syndromic intellectual disability 19	CTNNB1	1499	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080264	exudative vitreoretinopathy 7 Aliases: EVR7	CTNNB1	1499	Homo sapiens (human)	Alliance of Genome Resources
DOID:302	substance abuse	ADRA2A DRD4 HTR1A HTR1B NRG1 SLC6A4	150 1815 3084 3350 3351 6532	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050440	familial partial lipodystrophy Aliases: Dunnigan Syndrome Koberling-Dunnigan Syndrome	ADRA2A LMNA PPARG	150 4000 5468	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080346	blepharocheilodontic syndrome 2	CTNND1	1500	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080465	developmental and epileptic encephalopathy 30 Aliases: DEE30 early infantile epileptic encephalopathy 30	SIK1	150094	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050625	biliary tract benign neoplasm Aliases: extrahepatic bile duct neoplasm neoplasm of extrahepatic bile ducts tumor of the extrahepatic bile duct	ALB CTPS1 FASLG HGF IL4 IL6 MDM2 MTAP MUC1 MUC4 MUC5AC	1503 213 3082 356 3565 3569 4193 4507 4582 4585 4586	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111938	immunodeficiency 24 Aliases: IMD24 SCID due to CTPS1 deficiency severe combined immunodeficiency due to CTPS1 deficiency	CTPS1	1503	Homo sapiens (human)	Alliance of Genome Resources
DOID:3590	gestational trophoblastic neoplasm Aliases: gestational trophoblastic neoplasia hydatidiform mole molar pregnancy	MEI1	150365	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112194	Filippi syndrome Aliases: Scott craniodigital syndrome with mental retardation type 1 syndactyly-microcephaly-intellectual disability syndrome	CKAP2L	150468	Homo sapiens (human)	Alliance of Genome Resources
DOID:14219	renal tubular acidosis	ATP6V0A1 ATP6V0A2 ATP6V0A4 CTSB CYP11B1 SLC4A1 SLC4A4	1508 1584 23545 50617 535 6521 8671	Homo sapiens (human)	Alliance of Genome Resources
DOID:4914	esophagus adenocarcinoma Aliases: Oesophageal adenocarcinoma	ABL1 ARID1A CDC5L CTSB CYP19A1 CYP24A1 FAS FOXA1 FOXP1 GHRL GPX3 GRB7 KDR MMP12 MMP14 MMP1 MMP3 MMP9 NOS3 PTGS1 PTGS2 SMO SOD2 TNFRSF10A	1508 1588 1591 25 27086 2878 2886 3169 355 3791 4312 4314 4318 4321 4323 4846 51738 5742 5743 6608 6648 8289 8797 988	Homo sapiens (human)	Alliance of Genome Resources
DOID:12842	Guillain-Barre syndrome Aliases: Infectious neuronitis Post-infectious polyneuritis Postinfectious polyneuritis acute infective polyneuritis acute inflammatory demyelinating polyradiculopathy acute postinfectious polyneuropathy	APOA4 CCL2 CD86 CTSB GDNF PMP22	1508 2668 337 5376 6347 942	Homo sapiens (human)	Alliance of Genome Resources
DOID:885	fascioliasis Aliases: Fasciola hepatica infection Infection by Fasciola Liver flukes Sheep liver fluke infection	CTSB GLUD1 GLUD2	1508 2746 2747	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080998	acute necrotizing pancreatitis	BTG2 CALCA CCL2 CD46 CD59 CTSB ICAM1 IL17A IL1RN IL6 MIF MMP2 NOS1 NOS2 PDX1 RELA SELP SERPINE1 SERPINF2 SERPING1 TACR1 TBXAS1 TLR2 TLR4 TLR9	1508 3383 3557 3569 3605 3651 4179 4282 4313 4842 4843 5054 5345 54106 5970 6347 6403 6869 6916 7097 7099 710 7832 796 966	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110725	neuronal ceroid lipofuscinosis 10 Aliases: CLN10 Cathepsin D deficiency neuronal ceroid lipofuscinosis cathepsin D-deficient neuronal ceroid lipofuscinosis due to cathepsin D deficiency	CTSD	1509	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080038	pycnodysostosis	CTSK	1513	Homo sapiens (human)	Alliance of Genome Resources
DOID:898	autosomal dominant polycystic kidney disease Aliases: ADPKD Congenital biliary ectasias POLYCYSTIC KIDNEY AND HEPATIC DISEASE 1	ANGPT2 BICC1 C9 CD14 CFB EDN1 FLNC FOS GFER GPBAR1 IL1RN ITGA8 LATS1 LCN2 LRP2 LRP5 MMP1 MMP9 MTOR MYC NPHP3 PITX2 PKD1 PKD2 PKD2L1 PKD2L2 RPS6KB1 SERPING1 SLC34A1 SPP1 STAT6	151306 1906 2318 2353 2475 2671 27031 27039 285 3557 3934 4036 4041 4312 4318 4609 5308 5310 5311 6198 629 6569 6696 6778 710 735 80114 8516 9033 9113 929	Homo sapiens (human)	Alliance of Genome Resources
DOID:8158	complement component 5 deficiency Aliases: C5 deficiency	Hc	15139	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:10629	microphthalmia Aliases: microphthalmos simple microphthalmos	Crim1 Gdf6 Hccs Lrp5 Mfrp Stau2	15159 16973 242316 259172 29819 50766	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111808	linear skin defects with multiple congenital anomalies 1 Aliases: MCOPS7 MIDAS syndrome Microphthalmia with linear skin defect syndrome microphthalmia-dermal aplasia-sclerocornea syndrome syndromic microphthalmia 7 syndromic microphthalmia type 7	Hccs	15159	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050117	disease by infectious agent Aliases: infectious disease	Mbl2 Serpind1	15160 17195	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111901	heparin cofactor II deficiency Aliases: HCF 2 deficiency HCF II deficiency THPH10 thrombophilia due to heparin cofactor II deficiency	Serpind1	15160	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111814	methylmalonic acidemia and homocysteinemia cblX type Aliases: combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblX mental retardation, X-linked 3 methylmalonic aciduria with homocystinuria, type cblX	Hcfc1	15161	Mus musculus (house mouse)	Alliance of Genome Resources

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