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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 **12226 - 12250** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼	Source
DOID:0080140	multiple congenital anomalies-hypotonia-seizures syndrome 3 Aliases: M syndrome light fixation seizure syndrome	PIGT	51604	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:0050605	acrodermatitis enteropathica	SLC39A4	55630	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110262	cataract 45 Aliases: CTRCT45	SIPA1L3	23094	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080631	Elsahy-Waters syndrome Aliases: branchioskeletogenital syndrome	CDH11	1009	Homo sapiens (human)	Alliance of Genome Resources
DOID:1614	male breast cancer Aliases: malignant neoplasm of male breast neoplasm of male breast	CHEK2	11200	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110861	autosomal recessive polycystic kidney disease Aliases: Arpkd Pkhd1 Polycystic Kidney Disease, Infantile, Type I Polycystic Kidney and Hepatic Disease 1	ACE AKT1 AQP1 ARL3 BICC1 C3 CD14 CDC25A CFTR CYP4A11 CYP4A22 ELN GPBAR1 MTOR NEK1 PANX1 PIK3CA PKD1 PKHD1 SLC4A2 TMEM67 TSC1	1080 151306 1579 1636 2006 207 24145 2475 284541 358 403 4750 5290 5310 5314 6522 718 7248 80114 91147 929 993	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080404	orofacial cleft 11 Aliases: nonsyndromic cleft lip with or without cleft palate 11	BMP4	652	Homo sapiens (human)	Alliance of Genome Resources
DOID:13133	HELLP syndrome	ADAMTS13 CD40LG ERBB2 FAS FASLG	11093 2064 355 356 959	Homo sapiens (human)	Alliance of Genome Resources
DOID:552	pneumonia Aliases: acute pneumonia	ABO ACE ADRB2 ALB C3 C5 CCL11 CCL7 CCR7 CD14 CD163 CYP1A1 CYP2E1 DEFB1 EDN1 FCGR3A GRP ICAM1 IKBKB IL10 IL13 IL13RA2 IL1A IL1RN IL6 IRF5 ITGA4 ITGB2 MBL2 MIF MUC1 MUC2 REG3G SERPINE1 SFTPA1 SFTPB SFTPD SLC11A2 SOD3 TGFB1 TNC TNFRSF1B	1236 130120 154 1543 1571 1636 1672 1906 213 2214 28 2922 3371 3383 3551 3552 3557 3569 3586 3596 3598 3663 3676 3689 4153 4282 4582 4583 4891 5054 6354 6356 6439 6441 653509 6649 7040 7133 718 727 929 9332	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060916	proteasome-associated autoinflammatory syndrome 3 Aliases: PRAAS3	PSMB4	5692	Homo sapiens (human)	Alliance of Genome Resources
DOID:12918	thromboangiitis obliterans Aliases: Buerger's disease Presenile gangrene	AGER CRHR1 ELN HLA-A HLA-DRB1 LINC02210-CRHR1 VCAM1	104909134 1394 177 2006 3105 3123 7412	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080219	dystransthyretinemic hyperthyroxinemia	TTR	7276	Homo sapiens (human)	Alliance of Genome Resources
DOID:11132	prostatic hypertrophy	AR BAD CASP6 CFTR CLU ESR1 FADD FGF7 FGF8 IGF1R IL13 IL3 IL5 KDR MYC NME2 PDGFB PDGFD PTGS2 RELA SRD5A1	1080 1191 2099 2252 2253 3480 3562 3567 3596 367 3791 4609 4831 5155 572 5743 5970 6715 80310 839 8772	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080962	anauxetic dysplasia 2	POP1	10940	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060912	craniosynostosis 7 Aliases: CRS7	SMAD6	4091	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080177	hepatic veno-occlusive disease Aliases: veno-occlusive disease	ADAMTS13 HFE MMP9	11093 3077 4318	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081124	craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 1	TMCO1	54499	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112080	nuclear type mitochondrial complex I deficiency 32 Aliases: MC1DN32	NDUFB8	4714	Homo sapiens (human)	Alliance of Genome Resources
DOID:4415	fibrous histiocytoma Aliases: Fibroxanthoma benign fibrous histiocytoma	MFHAS1	9258	Homo sapiens (human)	Alliance of Genome Resources
DOID:12337	varicocele Aliases: Scrotal varices	CASP9 FAS HIF1A HSPD1 IL1A	3091 3329 355 3552 842	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050437	Danon disease Aliases: ANTOPOL DISEASE PSEUDOGLYCOGENOSIS II	LAMP2	3920	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111756	Leber hereditary optic neuropathy with demyelinating disease of CNS	MECR	51102	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070462	mitochondrial complex V (ATP synthase) deficiency nuclear type 4B Aliases: MC5DN4B	ATP5F1A	498	Homo sapiens (human)	Alliance of Genome Resources
DOID:9667	placental abruption Aliases: abruptio placenta abruptio placentae	PROC	5624	Homo sapiens (human)	Alliance of Genome Resources

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