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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 **7651 - 7675** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲	Source
DOID:2750	glycogen storage disease IV Aliases: Amylopectinosis Branching-transferase deficiency glycogenosis Glycogen storage disease 4 Glycogen storage disease, type IV brancher deficiency glycogenosis deficiency of 1,4-alpha-glucan branching enzyme	GBE1	2632	Homo sapiens (human)	Alliance of Genome Resources
DOID:409	liver disease Aliases: disorder of liver hepatic disorder	ALDH2 CPOX CYP2E1 DPYD FAS FASLG GLUL HFE HLA-DPB1 KDSR KRT18 MBL2 MDM2 PRKCSH SERPINA1 THBD TNF	1371 1571 1806 217 2531 2752 3077 3115 355 356 3875 4153 4193 5265 5589 7056 7124	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112160	autosomal dominant nonsyndromic deafness 79 Aliases: DFNA79	SCD5	79966	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110248	cataract 30 Aliases: CTRCT30 Dusty cataract cataract 30 pulverulent cataract Coppock-like	VIM	7431	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090107	autosomal dominant hypocalcemia 1 Aliases: HYPOC1	CASR	846	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050836	focal dystonia	TOR1A	1861	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090017	epidermolysis bullosa simplex with muscular dystrophy Aliases: epidermolysis bullosa simplex and limb-girdle muscular dystrophy limb-girdle muscular dystrophy with epidermolysis bullosa simplex	PLEC	5339	Homo sapiens (human)	Alliance of Genome Resources
DOID:8955	sideroblastic anemia Aliases: ANEMIA SIDEROBLASTIC Anemia, hypochromic with iron loading	ABCB7 CALR TRNT1	22 51095 811	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080019	metaphyseal dysplasia Aliases: Bakwin-Krida syndrome Pyle's disease Pyle-Cohn syndrome	SFRP4	6424	Homo sapiens (human)	Alliance of Genome Resources
DOID:4231	histiocytoma	KLRC4-KLRK1 KLRK1	100528032 22914	Homo sapiens (human)	Alliance of Genome Resources
DOID:10930	borderline personality disorder	TPH1	7166	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110880	holoprosencephaly 4 Aliases: HPE4	TGIF1	7050	Homo sapiens (human)	Alliance of Genome Resources
DOID:3910	lung adenocarcinoma Aliases: bronchogenic lung adenocarcinoma nonsmall cell adenocarcinoma	ABCE1 ADAM28 AKR1A1 ALX4 APOC3 ATRX AZGP1 BTK CADM1 CALR CBX5 CD44 CDC73 CDH1 CHD4 CHRNA3 CHRNA5 CHRNB4 CLPTM1L COL10A1 CSF1R CXCR4 CYP24A1 DLL4 E2F1 EEF2 EGF EGFR EHMT2 ERBB2 ERBB3 ERBB4 ERCC6 ERGIC3 ESCO2 EZH2 FAS FGF9 FGFR4 FOXA1 FOXP1 FUBP1 GPX3 HSP90B1 IDH1 IDH2 IGF2R IKZF1 IL1R2 KMT2C KRAS LRP1B MAP2K1 MAP4K4 MKI67 MSH2 MUC1 MUC4 MYC NOTCH1 NUF2 PLCG1 PLOD2 PRDM1 PTCH1 PTPN13 PTPRB PTPRJ RARB RBM10 RNF43 RUNX1 SDC1 SERPINA3 SETD2 SLC1A5 SLC3A2 SLC7A5 SNRPB SNRPE SOX30 SPOP SRC TERT TIMP3 UBR5 XPO1 XRCC1 ZFHX3	10320 10327 10863 10919 11063 1108 1136 1138 1143 12 1300 1436 157570 1591 1869 1938 1950 1956 2064 2065 2066 2074 2146 2254 2264 23468 23705 27086 2878 29072 3169 3417 3418 345 3482 355 3845 4288 4436 4582 4585 4609 463 4851 51366 51614 5335 53353 5352 54567 546 54894 5604 563 5727 5783 5787 5795 58508 5915 60529 6059 6382 639 6510 6520 6628 6635 6714 695 7015 7078 7184 7514 7515 7850 7852 79577 81037 811 8140 8241 83540 8405 861 8880 9448 960 999	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081230	autosomal recessive intellectual developmental disorder 69	ZBTB11	27107	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060789	hypomyelinating leukodystrophy 4 Aliases: HLD4 MitCHAP60 disease Pelizaeus-Merzbacher-like disease due to HSPD1 mutation mitochondrial HSP60 chaperonopathy	HSPD1	3329	Homo sapiens (human)	Alliance of Genome Resources
DOID:1540	parathyroid carcinoma Aliases: Parathyroid gland neoplasm carcinoma of Parathyroid gland malignant neoplasm of parathyroid gland malignant neoplasm of the Parathyroid malignant tumor of parathyroid gland neoplasm of parathyroid gland parathyroid gland cancer parathyroid neoplasm	CDC73	79577	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080439	developmental and epileptic encephalopathy 14 Aliases: DEE14 early infantile epileptic encephalopathy 14	KCNT1	57582	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060464	Feingold syndrome Aliases: FGLDS MODED syndrome ODED syndrome digital anomalies with short palpebral fissures and atresia of esophagus or duodenum microcephaly-digital anomalies-normal intelligence syndrome microcephaly-oculo-digito-esophageal-duodenal syndrome oculo-digito-esophageal-duodenal syndrome	MYCN	4613	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081331	glycogen storage disease Ic	SLC37A4	2542	Homo sapiens (human)	Alliance of Genome Resources
DOID:12577	urethral obstruction Aliases: Obstruction of urethra	CYP19A1 NOS1 TGFB1	1588 4842 7040	Homo sapiens (human)	Alliance of Genome Resources
DOID:1852	intrahepatic cholestasis Aliases: neonatal intrahepatic cholestasis	ABCB11 ABCB4 ENTPD1 HSD3B7 SLC22A1 SLC22A2 SLC25A12 SLC25A13	10165 5244 6580 6582 80270 8604 8647 953	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060741	methylmalonic acidemia due to transcobalamin receptor defect Aliases: methylmalonic acidemia, TCblR type methylmalonic aciduria due to transcobalamin receptor defect	CD320	51293	Homo sapiens (human)	Alliance of Genome Resources
DOID:1733	cryptosporidiosis Aliases: Cryptosporidial gastroenteritis Infection by Cryptosporidium intestinal cryptosporidiosis	MBL2	4153	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110463	autosomal recessive nonsyndromic deafness 102 Aliases: DFNB102 autosomal recessive deafness 102	EPS8	2059	Homo sapiens (human)	Alliance of Genome Resources
DOID:13832	patent ductus arteriosus Aliases: Patent ductus Botalli	ACTA1 ACTA2 ACTB ACTBL2 ACTC1 ACTG1 MYH11 PTGIS TFAP2B	345651 4629 5740 58 59 60 70 7021 71	Homo sapiens (human)	Alliance of Genome Resources

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