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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 **10301 - 10325** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼	Source
DOID:0090003	agenesis of the corpus callosum with peripheral neuropathy Aliases: Andermann syndrome Charlevoix disease corpus callosum agenesis-neuronopathy syndrome	SLC12A6	9990	Homo sapiens (human)	Alliance of Genome Resources
DOID:13891	bird fancier's lung Aliases: Avian hypersensitivity Pneumonitis Bird-fancier's lung Bird-fanciers' lung bird breeder's lung bird fancier lung pigeon breeder's lung poultry worker's lung	MUC1	4582	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070483	Watson syndrome	NF1	4763	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111469	combined oxidative phosphorylation deficiency 16 Aliases: COXPD16 infantile hypertrophic cardiomyopathy due to MRPL44 deficiency	MRPL44	65080	Homo sapiens (human)	Alliance of Genome Resources
DOID:8677	perinatal necrotizing enterocolitis Aliases: ENTEROCOLITIS NECROTIZING Necrotizing enterocolitis in fetus OR newborn Perinatal necrotising enterocolitis Pseudomembranous enterocolitis in newborn necrotizing enterocolitis	CD14 CD40 CD40LG EGF HBEGF IL10 IL10RB IL6 MUC2 PARP1 PLAUR PTAFR TJP1 TLR1 TLR2 TLR3 TLR4 TLR5 TLR6 TLR7 TLR9 TNF	10333 142 1839 1950 3569 3586 3588 4583 51284 5329 54106 5724 7082 7096 7097 7098 7099 7100 7124 929 958 959	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080630	B-lymphoblastic leukemia/lymphoma Aliases: B lymphoblastic leukemia/lymphoma B-ALL precursor B lymphoblastic lymphoma/leukemia	ABL1 AKR1C3 BRD2 CYP3A5 F13A1 F3 FLT3 IKZF1 STAT5A TFPI TNFSF13 TP53	10320 1577 2152 2162 2322 25 6046 6776 7035 7157 8644 8741	Homo sapiens (human)	Alliance of Genome Resources
DOID:11759	hypochromic anemia Aliases: ANEMIA HYPOCHROMIC	SLC11A2	4891	Homo sapiens (human)	Alliance of Genome Resources
DOID:8552	chronic myeloid leukemia Aliases: CML CML - chronic Myelogenous Leukemia Myeloid Leukemia, chronic chronic granulocytic leukaemia chronic granulocytic leukemia chronic myelogenous leukaemia chronic myelogenous leukemia chronic myeloid leukaemia	ABCB1 ABCC2 ABCG2 ABL1 ACE AGT AKT1 BCR CASP6 CD36 CD40 CDKN1B CRKL CYP1A1 CYP3A5 DNMT1 E2F1 EZH2 FAS FASLG FCGR2A FGFR3 GPX1 HES1 HLA-DQA1 HLA-DQB1 IL10 IL1RN MDM2 NCSTN PECAM1 SIPA1 SMAD4 STAT5A TERT TGFB1 USP15 VEGFA XRCC1	1027 1244 1399 1543 1577 1636 1786 183 1869 207 2146 2212 2261 23385 25 2876 3117 3119 3280 355 3557 356 3586 4089 4193 5175 5243 613 6494 6776 7015 7040 7422 7515 839 9429 948 958 9958	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070223	progressive familial intrahepatic cholestasis 3 Aliases: MDR3 deficiency PFIC3 progressive familial intrahepatic cholestasis with elevated serum gama-glutamyltransferase	ABCB4	5244	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060473	Kabuki syndrome Aliases: KMS Kabuki make up syndrome Niikawa-Kuroki syndrome	KDM6A KMT2D UTY	7403 7404 8085	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110847	xeroderma pigmentosum variant type Aliases: XPV photosensitivity with defective DNA synthesis xeroderma pigmentosum with normal DNA repair rates	POLH	5429	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050144	Kartagener syndrome Aliases: Kartagener's syndrome	CCDC39 DNAAF3 DNAH11 DNAH5 DRC1 MBL2 ODAD2 ODAD3 SLIT2	115948 1767 339829 352909 4153 55130 8701 92749 9353	Homo sapiens (human)	Alliance of Genome Resources
DOID:13922	eosinophilic esophagitis	CD40LG CYP2C19 PECAM1 TGFB1	1557 5175 7040 959	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060850	annular pancreas	GDF1 IHH	2657 3549	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111467	combined oxidative phosphorylation deficiency 13 Aliases: COXPD13	PNPT1	87178	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080664	diaphyseal medullary stenosis with malignant fibrous histiocytoma Aliases: Hardcastle syndrome bone dysplasia-medullary fibrosarcoma syndrome diaphyseal medullary stenosis-malignant fibrous histiocytoma syndrome	MTAP	4507	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080676	Stickler syndrome 1	COL2A1	1280	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080322	polycystic kidney disease	AGT ATF1 C9 CFB CTSB CTSH DLL4 EPAS1 GANAB GNAS GPBAR1 HDAC6 HIF1A KIF3A MTOR MYC NOS3 NPPB PKD1 PKD2 PLA2G4A PPARG PTGS1 PTGS2 PTMA SOD1 STAM2 TNC XYLT2	10013 10254 11127 1508 1512 151306 183 2034 23193 2475 2778 3091 3371 4609 466 4846 4879 5310 5311 5321 54567 5468 5742 5743 5757 629 64132 6647 735	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111651	ectodermal dysplasia 15 Aliases: ECTD15 ectodermal dysplasia 15, hypohidrotic/hair type	CST6	1474	Homo sapiens (human)	Alliance of Genome Resources
DOID:12803	Sly syndrome Aliases: MPS VII - Sly syndrome beta-glucuronidase deficiency deficiency of beta-glucuronidase mucopolysaccharidosis VII	GUSB	2990	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0060838	isolated microphthalmia 7 Aliases: MCOP7	GDF3	9573	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111631	familial erythrocytosis 7 Aliases: ECYT7 alpha-globin type erythrocytosis alpha-globin type polycythemia	HBA1 HBA2	3039 3040	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110054	amelogenesis imperfecta type 1A Aliases: AI1A amelogenesis imperfecta hypoplastic type IA amelogenesis imperfecta type IA	LAMB3	3914	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111640	autosomal recessive nonsyndromic deafness 111 Aliases: DFNB111 autosomal recessive deafness 111	MPZL2	10205	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080987	Ehlers-Danlos syndrome periodontal type 2	C1S	716	Homo sapiens (human)	Alliance of Genome Resources

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