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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 **4401 - 4425** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism
DOID:0110231	cataract 1 multiple types Aliases: CTRCT1 Duffy linked cataract cataract 1, multiple types, with or without microcornea	AGK ALDH7A1 CRYL1 CYP27A1 GALK1 GCNT2 GPC5 INPP5K LSS OCRL PTEN SLC33A1 SORD	1593 2262 2584 2651 4047 4952 501 51084 51763 55750 5728 6652 9197	Homo sapiens (human)
DOID:8805	intermediate coronary syndrome Aliases: Angina at rest Anginal chest pain at rest Impending infarction Preinfarction angina Unstable angina Worsening angina	akt1.S	399170	Xenopus laevis (African clawed frog)
DOID:0112136	severe congenital neutropenia 4 Aliases: Dursun syndrome SCN4 autosomal recessive severe congenital neutropenia due to G6PC3 deficiency severe congenital neutropenia-pulmonary hypertension-superficial venous angiectasis syndrome	g6pc3	790919	Danio rerio (zebrafish)
DOID:3052	Balkan nephropathy Aliases: Balkan endemic nephropathy DEFN Danubian endemic familial nephropathy	CYP2B6 CYP3A5 HSPG2 IL1R1 LIPA	1555 1577 3339 3554 3988	Homo sapiens (human)
DOID:583	hemolytic anemia Aliases: ANEMIA HEMOLYTIC	gbgt1l2 gbgt1l3 gbgt1l4 gbgt1l5 gbgt1l8 gbgt1l9	100005565 100005704 387303 447881 563897 566487	Danio rerio (zebrafish)
DOID:2747	glycogen storage disease Aliases: glycogenosis	Gyg1 Gys2 Pfkl Pfkm Pfkp Phkg2 Pygl	140671 25623 25741 60416 64035 65152 81675	Rattus norvegicus (Norway rat)
DOID:8432	polycythemia Aliases: Erythrocythemia	ACE ACO1 ACSL6 AKR1C4 ALOX5 BPGM CALR CD177 CD33 CEL CH25H CHI3L1 CHIT1 CYB5R3 CYP1A1 CYP2B6 ENPP1 FH FUT1 G6PD HPGDS HPRT1 IDH1 IDH2 IL18R1 ISYNA1 LGALS1 LGALS3 PIK3CA PIK3CB PIK3CD PIK3CG PKLR PLAUR SMUG1 SOAT1	1056 1109 1116 1118 1543 1555 1636 1727 2271 23305 23583 240 2523 2539 27306 3251 3417 3418 3956 3958 48 51477 5167 5290 5291 5293 5294 5313 5329 57126 6646 669 811 8809 9023 945	Homo sapiens (human)
DOID:5042	malignant granular cell myoblastoma Aliases: granular cell tumor, malignant malignant granular cell neoplasm malignant granular cell tumor	SMUG1	23583	Homo sapiens (human)
DOID:4961	bone marrow disease Aliases: bone marrow disorder	CNTN2 HPRT1 IL18RAP PGP PIK3CD PTGS2 SMUG1 TMTC1	23583 283871 3251 5293 5743 6900 83857 8807	Homo sapiens (human)
DOID:0050663	Bethlem myopathy Aliases: benign congenital muscular dystrophy	Col6a1	12833	Mus musculus (house mouse)
DOID:13579	kwashiorkor Aliases: Kwashiokor Nutritional edema with dyspigmentation of skin and hair Nutritional oedema with dyspigmentation of skin and/or hair	ACAT1 ACE ACLY ACOT7 ACSBG1 AKR1A1 ALDH2 ALDOB AMACR AMY1A AMY1B AMY1C BST2 CALR CAT CD14 CD55 CEL CYP2C9 CYP2E1 CYP7A1 CYP7B1 DGAT1 FADS1 FADS2 FCGR3B FH G6PC1 GAD2 GALT GLB1 GPX3 HJV HPGDS HPSE2 HSD3B1 ICAM1 KL LCT LDHA LGALS3 LIPA OGA PC PCK2 PIK3CA PIK3CB PIK3CD PIK3CG PLD2 PRPS1 PTGS2 REG1B SDHB SELP SI SLC2A4 SLC37A4 SLC39A8 SLC5A1 SMC3 SMPD1 SMUG1 SORD SPHK1 TPI1 TYMP VCAM1	10327 1056 10724 11332 148738 1559 1571 1581 1604 1636 1890 217 2215 2271 229 23205 23583 23600 2538 2542 2572 2592 2720 27306 276 277 278 2878 3283 3383 38 3938 3939 3958 3988 3992 47 5091 5106 5290 5291 5293 5294 5338 5631 5743 5968 60495 6390 6403 64116 6476 6517 6523 6609 6652 684 7167 7412 811 847 8694 8877 9126 929 9365 9415 9420	Homo sapiens (human)
DOID:12700	hyperprolactinemia Aliases: Chiari-Frommel syndrome Pregnancy-related A-G syndrome hyperprolactinaemia	GAD1 HSD3B1 HSD3B2 LPL SRD5A1 SRD5A2	2571 3283 3284 4023 6715 6716	Homo sapiens (human)
DOID:5127	bizarre leiomyoma Aliases: Atypical leiomyoma Pleomorphic leiomyoma Symplastic leiomyoma	FH	2271	Homo sapiens (human)
DOID:3672	rhabdoid cancer Aliases: Rhabdoid sarcoma malignant rhabdoid tumour	Myc	24577	Rattus norvegicus (Norway rat)
DOID:8947	diabetic retinopathy Aliases: Retinal abnormality - diabetes-related	Akr1b1 Akt1 Fuca1 Gapdh Ins1 Ins2 Pdx1 Pgf Ppargc1a Rbp4 Tlr4 Tnf	24185 24192 24375 24383 24505 24506 24835 25703 29260 29535 83516 94203	Rattus norvegicus (Norway rat)
DOID:10964	cholesteatoma of middle ear Aliases: Cholesteatoma of middle ear and mastoid Cholesteatoma of middle ear and/or mastoid Cholesteatoma of the middle ear Epidermosis of ear Epidermosis of middle ear middle ear cholesteatoma	Tlr4 Tnf Tp53	24835 24842 29260	Rattus norvegicus (Norway rat)
DOID:0110111	atrial heart septal defect 6 Aliases: ASD6 atrial septal defect 6	ACADVL ALG12 ARSA ARSD ATP6V1A B3GALT6 B3GAT3 B3GLCT CAT CFC1 CHST14 CHST3 COMT CYP11A1 CYP11B2 CYP1B1 CYP2E1 DSE FIG4 FKTN G6PC3 GAA GPC3 GPC6 MASP1 MMUT PCYT1A PIGA PIGN PIGQ PLD1 PTEN RENBP SMC3 TALDO1 TGDS TKT XYLT2	10082 113189 126792 1312 145173 1545 1571 1583 1585 2218 23483 23556 2548 26229 2719 29940 37 410 414 4594 5130 523 5277 5337 55997 5648 5728 5973 64132 6888 7086 79087 847 9091 9126 92579 9469 9896	Homo sapiens (human)
DOID:2738	pseudoxanthoma elasticum Aliases: Gronblad-Strandberg syndrome	xylt1.L xylt1.S xylt2.L	108701100 108703114 444363	Xenopus laevis (African clawed frog)
DOID:3969	thyroid gland papillary carcinoma Aliases: Papillary carcinoma of the Thyroid gland	Braf Myc Trp53	109880 17869 22059	Mus musculus (house mouse)
DOID:303	substance-related disorder	sgg	31248	Drosophila melanogaster (fruit fly)
DOID:2513	basal cell carcinoma Aliases: Basal cell cancer Basal cell carcinoma of skin Basal cell neoplasm Basal cell tumor Epithelioma basal cell Rodent ulcer malignant Basal cell neoplasm malignant basal cell tumor	OGG1	854942	Saccharomyces cerevisiae S288C
DOID:9206	Barrett's esophagus Aliases: Barrett esophagus Barrett's esophagus with esophagitis Barrett's oesophagus Barrett's ulcer of esophagus Barretts syndrome ulcerative esophagitis	B3gat2	64544	Rattus norvegicus (Norway rat)
DOID:3393	coronary artery disease Aliases: CHD Coronary disease coronary arteriosclerosis coronary heart disease	Adipoq Chi3l1 Gck Il1rl1 Kl Lepr Nampt Ogg1 Ppara Rbp4 Tlr4 Tnf Trp53	103988 11450 12654 16591 16847 17082 18294 19013 19662 21898 21926 22059 59027	Mus musculus (house mouse)
DOID:8505	dermatitis herpetiformis Aliases: Dermatosis herpetiformis Duhring's disease	Tnf	21926	Mus musculus (house mouse)
DOID:0110958	Gaucher's disease type II Aliases: GD II GD2 Gaucher Disease, Acute Neuronopathic Type Infantile Cerebral Gaucher Disease	ACE CHIT1 GBA1	1118 1636 2629	Homo sapiens (human)

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