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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 **8276 - 8300** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source
DOID:0081266	pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures Aliases: PAMDDFS	TUBGCP2	10844	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112314	brain small vessel disease 2 Aliases: BSVD2 porencephaly 2	COL4A2	1284	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060893	juvenile-onset Parkinson's disease Aliases: juvenile-onset Parkinson disease	ATP13A2 ATP13A3 ATP13A5	23400 344905 79572	Homo sapiens (human)	Alliance of Genome Resources
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:0110009	achromatopsia 7 Aliases: ACHM7	Atf6	226641	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111694	familial adult myoclonic epilepsy 7 Aliases: BAFME7 FAME7 FCMTE7 benign adult familial myoclonic epilepsy 7 familial cortical myoclonic tremor and epilepsy 7	Rapgef2	310533	Rattus norvegicus (Norway rat)	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:0060639	permanent neonatal diabetes mellitus Aliases: PDMI PNDM permanent diabetes mellitus of infancy	Abcc8 Gck Ins1 Ins2 Kcnj11	24385 24505 24506 25559 83535	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0081292	traumatic brain injury	ngfb	58133	Danio rerio (zebrafish)	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:10211	cholelithiasis	Ugt301D1 Ugt302K1 Ugt303A1 Ugt304A1 Ugt316A1 Ugt35A1 Ugt35C1 Ugt35E2 Ugt36D1 Ugt36E1 Ugt36F1 Ugt37A3 Ugt37C1 Ugt37D1 Ugt37E1 Ugt49B2	35105 35137 35138 35139 40079 41334 41574 42538 53501 53502 53503 53506 53507 53511 53512 53583	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0080268	autosomal dominant nonsyndromic deafness 72	slc44a4	393385	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:4006	bladder urothelial carcinoma Aliases: bladder transitional cell carcinoma transitional cell carcinoma of bladder urinary bladder urothelial carcinoma urothelial bladder carcinoma	CYC8	852410	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0080228	autosomal dominant intellectual developmental disorder 53 Aliases: autosomal dominant mental retardation 53	Camk2a	12322	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060733	junctional epidermolysis bullosa with pyloric atresia Aliases: Carmi syndrome JEB-PA epidermolysis bullosa junctionalis with pyloric atresia junctional epidermolysis bullosa-pyloric atresia syndrome	Itgb4	25724	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0050866	oral squamous cell carcinoma Aliases: mouth squamous cell carcinoma	cdh1.S fgfr3.S ttr.L wnt11.S	100337618 397787 399347 446915	Xenopus laevis (African clawed frog)	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:3069	malignant astrocytoma Aliases: Astrocytic tumor astrocytoma of Cerebrum astrocytoma of brain astroglioma cerebral astrocytoma	cadm2	448238	Xenopus tropicalis (tropical clawed frog)	Alliance of Genome Resources
DOID:11759	hypochromic anemia Aliases: ANEMIA HYPOCHROMIC	SLC11A2	4891	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060611	abdominal obesity-metabolic syndrome	gcy-27	191654	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0080784	urinary tract infection Aliases: UTI	Cxcr1 Hspa1a Il1a Lcn2 Tlr4	170496 24472 24493 29260 54258	Rattus norvegicus (Norway rat)	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

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