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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 **11601 - 11625** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼	Source
DOID:3742	bladder squamous cell carcinoma Aliases: Epidermoid carcinoma of the urinary bladder squamous cell carcinoma of bladder	PTEN	5728	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110791	hereditary spastic paraplegia 3A Aliases: FSP1 SPG3A autosomal dominant familial spastic paraplegia 1 autosomal dominant spastic paraplegia 3 autosomal dominant spastic paraplegia type 3 strumpell disease	ATL2 ATL3	25923 64225	Homo sapiens (human)	Alliance of Genome Resources
DOID:3590	gestational trophoblastic neoplasm Aliases: gestational trophoblastic neoplasia hydatidiform mole molar pregnancy	MEI1	150365	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050523	adult T-cell leukemia/lymphoma Aliases: Adult T-cell leukemia/lymphoma (HTLV-1 positive) adult T-cell leukemia	CD163 CD274 CD68 CD80 CD86 FAS IL10 IL5 IL6 JAK3 NOTCH1	29126 355 3567 3569 3586 3718 4851 9332 941 942 968	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110821	hereditary spastic paraplegia 76 Aliases: SPG76 autosomal recessive spastic paraplegia 76	CAPN1 CAPN3	823 825	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080981	arthrogryposis multiplex congenita-5	TOR1A	1861	Homo sapiens (human)	Alliance of Genome Resources
DOID:1205	allergic disease Aliases: allergic hypersensitivity disease hypersensitivity hypersensitivity reaction type I disease	ACE AGT AKR1B1 CD14 CYSLTR1 FCGR3A HLA-DQA1 HLA-DQB1 HLA-DRA HLA-DRB1 ICAM1 IL13 LTA MIF TAP1	10800 1636 183 2214 231 3117 3119 3122 3123 3383 3596 4049 4282 6890 929	Homo sapiens (human)	Alliance of Genome Resources
DOID:13316	exocrine pancreatic insufficiency Aliases: EPI	CFTR	1080	Homo sapiens (human)	Alliance of Genome Resources
DOID:11613	hyperandrogenism Aliases: hyperandrogenization syndrome	IL6ST POMC PPARG	3572 5443 5468	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080086	nonsyndromic congenital nail disorder 8 Aliases: isolated toenail dystrophy	COL7A1	1294	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060858	hypotonia-cystinuria syndrome Aliases: cystinuria with mitochondrial disease	CAMKMT	79823	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080845	omodysplasia 2	FZD2	2535	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111839	congenital disorder of glycosylation Icc Aliases: congenital disorder of glycosylation type Icc	MAGT1	84061	Homo sapiens (human)	Alliance of Genome Resources
DOID:2277	gonadal disease	LHCGR	3973	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060061	primary cutaneous T-cell non-Hodgkin lymphoma Aliases: cutaneous T cell lymphoma cutaneous T-cell lymphoma	CCR6 IL4	1235 3565	Homo sapiens (human)	Alliance of Genome Resources
DOID:6270	gastric cardia carcinoma Aliases: carcinoma of Cardia of stomach	XRCC1	7515	Homo sapiens (human)	Alliance of Genome Resources
DOID:10320	asbestosis	CYP2E1 NOS2 TNC	1571 3371 4843	Homo sapiens (human)	Alliance of Genome Resources
DOID:14498	lipoid proteinosis Aliases: Lipid proteinosis URBACH-WIETHE DISEASE	ECM1	1893	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111933	phosphoglycerate kinase 1 deficiency Aliases: GSD due to phosphoglycerate kinase 1 deficiency PGK1 deficiency glycogen storage disease due to phosphoglycerate kinase 1 deficiency glycogenosis due to phosphoglycerate kinase 1 deficiency	PGK1	5230	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112376	muscular dystrophy-dystroglycanopathy type B15 Aliases: MDDGB15 congenital muscular dystrophy DPM3-related	DPM3	54344	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111900	autosomal dominant thrombophilia due to protein S deficiency Aliases: THPH5	PROS1	5627	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060022	CD40 ligand deficiency Aliases: HIGMX-1 X-linked hyper-IgM syndrome	CD40LG	959	Homo sapiens (human)	Alliance of Genome Resources
DOID:3491	Turner syndrome Aliases: Bonnevie-Ullrich syndrome Gonadal dysgenesis - Turner Karyotype 45, X Monosomy X XO syndrome monosomy X syndrome	IGFBP3	3486	Homo sapiens (human)	Alliance of Genome Resources
DOID:2671	transitional cell carcinoma Aliases: transitional carcinoma transitional cell tumor urothelial cell carcinoma	ANGPT1 ANGPT2 ANXA1 APC APOA1 AREG BRD4 BSG CA9 CD44 CD82 CD9 CDKN1B CTNNA1 CTNNB1 CTSB CTSH DAXX EGFR ERBB2 ERBB3 ERBB4 FAS FASLG FGFR2 FGFR3 HRAS IGFBP3 KDR KISS1R KRAS MMP14 MMP15 MMP2 MSH2 NRAS OGG1 PAK1 PHB1 PLA2G4A PLAU POU5F1 PTGES PTGS2 RAD50 REL RELB SFN SKP2 SLC3A2 SLC7A5 SMAD4 SOX2 TERT TFF1 TFRC TIMP1 TP53 TYMP XPO5 XRCC1	10111 1027 1495 1499 1508 1512 1616 1890 1956 2064 2065 2066 2261 2263 23476 2810 284 285 301 324 3265 335 3486 355 356 3732 374 3791 3845 4089 4313 4323 4324 4436 4893 4968 5058 5245 5321 5328 5460 5743 57510 5966 5971 6502 6520 6657 682 7015 7031 7037 7076 7157 7515 768 8140 84634 928 9536 960	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060878	hypoparathyroidism-deafness-renal disease syndrome Aliases: Barakat syndrome HDR syndrome hypoparathyroidism, sensorineural deafness, and renal disease	GATA3	2625	Homo sapiens (human)	Alliance of Genome Resources

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