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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 **1926 - 1950** of **4649** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼	Source
DOID:0070143	autosomal recessive cutis laxa type III Aliases: De Barsy syndrome cutis laxa-corneal clouding-intellectual disability syndrome	ALDH18A1	5832	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050457	Sertoli cell-only syndrome Aliases: DEL CASTILLO SYNDROME Germinal Cell Aplasia	DDX3X DDX3Y	1654 8653	Homo sapiens (human)	Alliance of Genome Resources
DOID:6171	uterine carcinosarcoma Aliases: mixed mullerian sarcoma of uterus	KIT	3815	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:0111395	mucopolysaccharidosis type IIIA Aliases: MPS3A MPSIIIA Sanfilippo syndrome type A heparan sulfamidase deficiency mucopolysaccharidosis III-A mucopolysaccharidosis type 3A mucopolysaccharidosis type IIIA (Sanfilippo A)	GNS SGSH	2799 6448	Homo sapiens (human)	Glyco-Disease Genes Database Glyco-Disease Genes Database Alliance of Genome Resources
DOID:2569	retinal drusen	CFH	3075	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110914	infantile hypophosphatasia Aliases: Hops phosphoethanolaminuria	ALPL	249	Homo sapiens (human)	Alliance of Genome Resources
DOID:14768	Saethre-Chotzen syndrome	FGFR2 TWIST1 TWIST2	117581 2263 7291	Homo sapiens (human)	Alliance of Genome Resources
DOID:12270	coloboma Aliases: coloboma of eye coloboma of macula congenital ocular coloboma	DZIP1 FZD5 LAMB1 PTCH2 SALL2 TMEM67 YAP1	10413 22873 3912 6297 7855 8643 91147	Homo sapiens (human)	Alliance of Genome Resources
DOID:10320	asbestosis	CYP2E1 NOS2 TNC	1571 3371 4843	Homo sapiens (human)	Alliance of Genome Resources
DOID:3454	brain infarction	ADIPOQ ADM ADNP ALDH2 CACNA2D1 CALCRL CD8A CFH CTSB CYP11B1 CYP11B2 CYP2R1 GPNMB GZMB HGF HIF1A HLA-DQA1 HMGB1 HTR2B ICAM1 IGF2 IL15 IL2 KCNK6 MDK MMP14 MMP8 MMP9 MSI1 NES PARG PDGFB PRCP SCN7A TBXAS1 TNF TPCN2	10203 10457 10763 120227 133 1508 1584 1585 217 219931 23394 3002 3075 3082 3091 3117 3146 3357 3383 3481 3558 3600 4192 4317 4318 4323 4440 5155 5547 6332 6916 7124 781 8505 925 9370 9424	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060674	catecholaminergic polymorphic ventricular tachycardia	TRDN	10345	Homo sapiens (human)	Alliance of Genome Resources
DOID:1911	endodermal sinus tumor Aliases: Hepatoid yolk sac tumour Yolk Sac neoplasm Yolk sac tumour endodermal sinus tumour infantile embryonal carcinoma yolk sac tumor	AFP CTNNB1 FGF8 SALL4 WNT2B	1499 174 2253 57167 7482	Homo sapiens (human)	Alliance of Genome Resources
DOID:9965	toxoplasmosis Aliases: disseminated toxoplasmosis	BAX	581	Homo sapiens (human)	Alliance of Genome Resources
DOID:162	cancer Aliases: malignant neoplasm malignant tumor primary cancer	ACAP1 ACAP2 AKT1 AKT2 AKT3 ALK ARID1A ATM BRCA2 BUB3 CAND1 CAND2 CBX2 CBX4 CBX8 CCNE2 CD53 CDIPT CDS1 CDS2 CMPK1 CSF1R CTNNB1 CUX1 DDX17 DDX5 DEPDC5 DHDDS DLG1 DLL1 DLL4 DST DUT EAF1 EPAS1 FEN1 FGR FLT1 FLT3 FLT4 GNPNAT1 HACD1 HACD2 HCK HRAS HSP90AA1 HSP90AB1 IDH1 IDI1 ING3 IPO5 ITGA3 ITGA6 ITGA7 ITGB1 ITGB2 ITGB3 ITGB5 ITGB6 ITGB7 JUP KANK1 KANK2 KANK4 KDR KIT KRAS LATS1 LATS2 LIG1 LLGL1 LLGL2 LRRK2 LTK MACF1 MAP2K1 MAP2K2 MSH2 MTOR MVK MYC NFYA NIPBL NOP2 NOTCH1 NOTCH2 NOTCH3 NOTCH4 NRAS NSDHL PGK1 PGK2 PGM3 PHC1 PHC2 PHC3 PIGZ PIK3CB PIK3CD PINX1 PIP4K2A PIP4K2B PIP4K2C PIP5K1A PIP5K1B PIP5K1C POLD2 POLE PPP1CA PPP1CB PPP1CC PSMA1 PSMC2 PSMC5 PTEN RAB5A RAB5C RAF1 RB1 RBBP6 RBL2 RET RFT1 RING1 RNF2 SCRIB SETD2 SHMT1 SHMT2 SIN3A SIN3B SMARCA2 SMARCA4 SMARCC1 SMARCC2 SOD2 SQLE SRC SSRP1 STK4 SUMO1 TAOK1 TAOK2 TBX2 TBX3 TERT THG1L TOP1 TOP1MT TOP2A TOP2B TP53 TPI1 TRIP12 TSPAN10 TSPAN14 TSPAN17 TSPAN5 TTI1 TXNL4A TYMS UGP2 VBP1 YAP1 YARS1	10000 10098 1040 10413 10423 10521 10907 116447 120892 1436 1499 1523 163782 1655 1739 1854 1911 1912 201562 2034 207 208 2237 2268 23066 23189 2321 2322 2324 23309 23396 23499 23513 23527 238 2475 25836 25942 25959 26262 26524 28514 29072 3055 3265 3320 3326 3417 3422 3655 3675 3679 3688 3689 3690 3693 3694 3695 3728 3791 3815 3843 3845 3978 3993 3996 4058 4436 4598 4609 472 4800 4839 4851 4853 4854 4855 4893 50814 51727 5230 5232 5238 5291 5293 5305 5425 5426 54556 54567 54974 54984 5499 5500 5501 55832 5604 5605 5682 5701 5705 5728 57332 57551 5868 5878 5894 5925 5930 5934 5979 6015 6045 6470 6472 64841 6595 6597 6599 6601 6648 667 6713 6714 6749 675 6789 6909 6926 7015 7150 7153 7155 7157 7167 7298 7341 7360 7411 79837 79947 80012 80235 81619 8289 83882 8394 8395 8396 84733 8535 85403 8565 8760 9113 9134 9184 91869 9200 9320 9344 963 9675 9681 9744	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110157	Charcot-Marie-Tooth disease type 2J Aliases: CMT2J Charcot-Marie-Tooth disease type 2 with hearing loss and pupillary abnormalities Charcot-Marie-Tooth neuropathy type 2J	MPZ	4359	Homo sapiens (human)	Alliance of Genome Resources
DOID:2033	communication disorder	COL6A3 DDB1	1293 1642	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081175	short stature, hearing loss, retinitis pigmentosa, and distinctive facies	EXOSC2	23404	Homo sapiens (human)	Alliance of Genome Resources
DOID:630	genetic disease	COG7	91949	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070243	primary coenzyme Q10 deficiency 6 Aliases: COQ10D6 coenzyme Q10 deficiency, primary, 6 familial steroid-resistant nephrotic syndrome with sensorineural deafness	COQ6	51004	Homo sapiens (human)	Alliance of Genome Resources
DOID:1475	lymphangioma Aliases: Congenital lymphangioma benign lymphangioma	FLT4 KDR	2324 3791	Homo sapiens (human)	Alliance of Genome Resources
DOID:299	adenocarcinoma	ANGPT2 APC LTA4H NOTCH1 NOTCH2 NOTCH3 PTGS2 SPHK1 STRAP TNNI3	11171 285 324 4048 4851 4853 4854 5743 7137 8877	Homo sapiens (human)	Alliance of Genome Resources
DOID:8929	atrophic gastritis Aliases: gastric atrophy	ATP4B HLA-DQB1 HLA-DRB1 PTPN11	3119 3123 496 5781	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111907	thrombophilia due to thrombin defect Aliases: THPH1 prothrombin-related thrombophilia thrombophilia due to factor 2 defect	F13A1 F2 HABP2	2147 2162 3026	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060861	microphthalmia with limb anomalies Aliases: MLA OAS Waardenburg anophthalmia syndrome anophthalmia-syndactyly syndrome ophthalmoacromelic syndrome	SMOC1	64093	Homo sapiens (human)	Alliance of Genome Resources

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