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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 **3226 - 3250** of **4649** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source ▲
DOID:12583	velocardiofacial syndrome Aliases: Shprintzen syndrome VCF-Velocardiofacial syndrome	CHRD CRKL EDNRA ESS2 PRICKLE1 UFD1	1399 144165 1909 7353 8220 8646	Homo sapiens (human)	Alliance of Genome Resources
DOID:12638	hypertrophic pyloric stenosis Aliases: congenital hypertrophic pyloric stenosis congenital or infantile stricture of pylorus	NOS1	4842	Homo sapiens (human)	Alliance of Genome Resources
DOID:12662	paracoccidioidomycosis Aliases: Mucocutaneous-lymphangitic paracoccidioidomycosis paracoccidioidal mycosis	CFB HLA-DRB1 IL1RL1 TNF	3123 629 7124 9173	Homo sapiens (human)	Alliance of Genome Resources
DOID:12678	hypercalcemia	CASR CYP24A1 PTH1R SLC34A1	1591 5745 6569 846	Homo sapiens (human)	Alliance of Genome Resources
DOID:12679	nephrocalcinosis	BRD4	23476	Homo sapiens (human)	Alliance of Genome Resources
DOID:12689	acoustic neuroma Aliases: Vestibular Neurilemmoma Vestibular schwannoma	ARTN BDNF CYP2E1 FGFR1 GDNF IGFBP3 VEGFA	1571 2260 2668 3486 627 7422 9048	Homo sapiens (human)	Alliance of Genome Resources
DOID:127	leiomyoma Aliases: leiomyomatous neoplasm leiomyomatous tumor	AR BAX COMT EZH2 FASLG FGF7 FZD2 IGFBP6 KAT6B LNPEP MKI67 MMP2 MYC NOS3 PARP1 PCNA PDGFA PDGFB PGR PTEN PTGER3 PTK2 SFRP1 TGFBR1 TSC2 WNT5B WNT7A XRCC1	1312 142 2146 2252 23522 2535 3489 356 367 4012 4288 4313 4609 4846 5111 5154 5155 5241 5728 5733 5747 581 6422 7046 7249 7476 7515 81029	Homo sapiens (human)	Alliance of Genome Resources
DOID:1270	hereditary hemorrhagic telangiectasia Aliases: Osler hemorrhagic telangiectasia syndrome Osler-Weber-Rendu disease Rendu-Osler-Weber disease	ACVRL1 BMP10 ENG GDF2 SMAD4 TGFB1 TNF	2022 2658 27302 4089 7040 7124 94	Homo sapiens (human)	Alliance of Genome Resources
DOID:12700	hyperprolactinemia Aliases: Chiari-Frommel syndrome Pregnancy-related A-G syndrome hyperprolactinaemia	ABCC3 DRD2 GDNF HSD3B1 HSD3B2 PGR PRL PRLR SLC6A3 SRD5A1 SRD5A2	1813 2668 3283 3284 5241 5617 5618 6531 6715 6716 8714	Homo sapiens (human)	Alliance of Genome Resources
DOID:12704	ataxia telangiectasia Aliases: Boder-Sedgwick syndrome Louis Bar syndrome	ATM ATR BAX HDAC4 IFNG IL2 IL6	3458 3558 3569 472 545 581 9759	Homo sapiens (human)	Alliance of Genome Resources
DOID:12705	Friedreich ataxia Aliases: Friedreich's ataxia Friedreich's tabes	AGTR1	185	Homo sapiens (human)	Alliance of Genome Resources
DOID:12712	nephronophthisis Aliases: medullary cystic disease medullary cystic kidney	NPHP3 RPGRIP1L TMEM67 TTC21A	199223 23322 27031 91147	Homo sapiens (human)	Alliance of Genome Resources
DOID:12714	Ellis-Van Creveld syndrome Aliases: Chondroectodermal dysplasia mesoectodermal dysplasia	EVC2 WDR35	132884 57539	Homo sapiens (human)	Alliance of Genome Resources
DOID:12716	newborn respiratory distress syndrome Aliases: HMD - Hyaline membrane disease Neonatal respiratory Distress syndrome hyaline membrane disease pulmonary hyaline membrane disease pulmonary hypoperfusion syndrome of newborn respiratory distress syndrome of newborn	CAT EPAS1 ICAM1 MBL2 NDST1 NPSR1 SFTPA1 SFTPA2 SFTPB SFTPC SFTPD SOD1 VEGFA	2034 3340 3383 387129 4153 6439 6440 6441 653509 6647 729238 7422 847	Homo sapiens (human)	Alliance of Genome Resources
DOID:1272	telangiectasis Aliases: telangiectasia	NOS3	4846	Homo sapiens (human)	Alliance of Genome Resources
DOID:12720	cerebral atherosclerosis	KALRN	8997	Homo sapiens (human)	Alliance of Genome Resources
DOID:12721	multiple epiphyseal dysplasia Aliases: polyepiphyseal dysplasia	COMP	1311	Homo sapiens (human)	Alliance of Genome Resources
DOID:1273	respiratory syncytial virus infectious disease Aliases: RSV respiratory syncytial virus	ACE2 CCR5 CD28 HLA-G ICAM1 IFNG IL10 IL17A IL5RA IL6 IL9 NGF NGFR PDCD1 SFTPA1 SFTPB SFTPC SFTPD TACR1 TLR4 TLR7 TLR8 TSLP	1234 3135 3383 3458 3568 3569 3578 3586 3605 4803 4804 51284 51311 5133 59272 6439 6440 6441 653509 6869 7099 85480 940	Homo sapiens (human)	Alliance of Genome Resources
DOID:12732	intermediate uveitis Aliases: chronic cyclitis peripheral uveoretinitis	CCR2 IL10 TNF	3586 7124 729230	Homo sapiens (human)	Alliance of Genome Resources
DOID:12783	migraine without aura Aliases: common migraine	ENO2 LDLR TNF	2026 3949 7124	Homo sapiens (human)	Alliance of Genome Resources
DOID:12798	mucopolysaccharidosis	ARSG ARSK GUSB HYAL1	153642 22901 2990 3373	Homo sapiens (human)	Alliance of Genome Resources
DOID:1283	enterocele Aliases: vaginal enterocele	ALDH18A1	5832	Homo sapiens (human)	Alliance of Genome Resources
DOID:12835	quadriplegia Aliases: tetraplegia	IL6	3569	Homo sapiens (human)	Alliance of Genome Resources
DOID:12842	Guillain-Barre syndrome Aliases: Infectious neuronitis Post-infectious polyneuritis Postinfectious polyneuritis acute infective polyneuritis acute inflammatory demyelinating polyradiculopathy acute postinfectious polyneuropathy	APOA4 CCL2 CD86 CTSB GDNF PMP22	1508 2668 337 5376 6347 942	Homo sapiens (human)	Alliance of Genome Resources
DOID:12849	autistic disorder Aliases: Kanner's syndrome autism autistic disorder of childhood onset childhood autism infantile autism	ANK2 C4B CCL2 CNTNAP2 DAB1 EIF4E EN2 FOXP2 GABRA2 GABRA4 GABRA5 GABRB1 GABRB2 GABRR2 GLO1 GRM8 GRN HLA-DRB1 HRAS HSPD1 IL6 KCNQ3 KDM4C KMT2E LAMB1 MECP2 MET MTR NF1 NLGN1 NLGN3 NLGN4X NTRK2 PECAM1 PIK3CG PTCHD1 RELN RPP25 SETDB1 SHANK2 SLC25A12 SLC6A4 SLC9A9 TNF VLDLR	139411 1600 1977 2020 22871 22941 23081 2555 2557 2558 2560 2561 2570 26047 2739 285195 287 2896 2918 3123 3265 3329 3569 3786 3912 4204 4233 4548 4763 4915 5175 5294 54413 54913 55904 5649 57502 6347 6532 7124 721 7436 8604 93986 9869	Homo sapiens (human)	Alliance of Genome Resources

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