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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 **11801 - 11825** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼	Source
DOID:0080076	Neu-Laxova syndrome 1	PHGDH	26227	Homo sapiens (human)	Alliance of Genome Resources
DOID:3410	carotid artery thrombosis	F3 THBD	2152 7056	Homo sapiens (human)	Alliance of Genome Resources
DOID:4367	apparent mineralocorticoid excess syndrome Aliases: 11-beta-hydroxysteroid dehydrogenase deficiency type 2 Ulick syndrome cortisol 11-beta-ketoreductase deficiency syndrome of apparent mineralocorticoid excess	HSD11B2	3291	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080621	glucocorticoid deficiency 1	MC2R	4158	Homo sapiens (human)	Alliance of Genome Resources
DOID:1838	Menkes disease Aliases: COPPER TRANSPORT DISEASE Menkes kinky-hair syndrome steely hair syndrome	ATP7A ATP7B LOX	4015 538 540	Homo sapiens (human)	Alliance of Genome Resources
DOID:5176	renal Wilms' tumor Aliases: Nonanaplastic renal Wilm's tumor Nonanaplastic renal Wilm's tumour renal Wilms' tumour	BMI1 EZH2 SALL1 SUZ12 TEK VEGFA	2146 23512 6299 648 7010 7422	Homo sapiens (human)	Alliance of Genome Resources
DOID:14766	renal agenesis Aliases: hereditary renal aplasia hereditary urogenital adysplasia renal adysplasia renal aplasia	GFRA1 GREB1L ITGA8	2674 80000 8516	Homo sapiens (human)	Alliance of Genome Resources
DOID:583	hemolytic anemia Aliases: ANEMIA HEMOLYTIC	A2M ABO FCGR2A G6PD GCLC HP PGK1 RHAG	2 2212 2539 2729 28 3240 5230 6005	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080953	amelogenesis imperfecta type 1J Aliases: Amelogenesis imperfecta, type IJ	ACP4	93650	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110087	asphyxiating thoracic dystrophy 3 Aliases: ATD3 SRPS1 SRPS2B SRPS3 SRTD3 Saldino-Noonan syndrome Verma-Naumoff syndrome polydactyly with neonatal chondrodystrophy, type I polydactyly with neonatal chondrodystrophy, type III short rib-polydactyly syndrome, type I short rib-polydactyly syndrome, type IIB short-rib thoracic dysplasia 3 with or without polydactyly	DYNC2H1	79659	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080261	autosomal recessive nonsyndromic deafness 106	EPS8L2	64787	Homo sapiens (human)	Alliance of Genome Resources
DOID:3121	gallbladder cancer Aliases: gallbladder Ca gallbladder neoplasm localized malignant gallbladder neoplasm malignant neoplasm of gallbladder malignant tumor of the gallbladder malignant tumour of gallbladder tumor of the gallbladder	APC APOB APOE BUB1B CALR CCR5 CYP17A1 CYP1A1 DPYD EGF GLI1 JUNB KEAP1 LRP1B RBP4 RICTOR XRCC1	1234 1543 1586 1806 1950 253260 2735 324 338 348 3726 53353 5950 701 7515 811 9817	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070343	CSF1R-related brain malformation and osteopetrosis Aliases: osteoporosis and infantile neuroaxonal dystrophy	CSF1R	1436	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070059	autosomal dominant intellectual developmental disorder 29 Aliases: MRD29 autosomal dominant mental retardation 29 autosomal dominant non-syndromic intellectual disability 29	SETBP1	26040	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070187	Y-linked spermatogenic failure 2 Aliases: SPGFY2 nonobstructive Y-linked spermatogenic failure	USP9Y	8287	Homo sapiens (human)	Alliance of Genome Resources
DOID:2942	bronchiolitis	ADRB2 CCL11 CD40 IL17A IL1RN MUC5B	154 3557 3605 6356 727897 958	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060240	UV-sensitive syndrome	ERCC6	2074	Homo sapiens (human)	Alliance of Genome Resources
DOID:1070	primary open angle glaucoma Aliases: chronic simple glaucoma	ACVR1 ADIPOQ ADRB2 APOE BDNF COL6A3 CYP1B1 EDN1 ELN GLUL LAMB2 LOXL1 MBL2 MMP1 MMP9 MYOC NOS3 OGG1 OPA1 OPTN PON1 SOD2 THBS1 TLR4 TNF TP53 WDR36	10133 1293 134430 154 1545 1906 2006 2752 348 3913 4016 4153 4312 4318 4653 4846 4968 4976 5444 627 6648 7057 7099 7124 7157 90 9370	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050771	pheochromocytoma Aliases: phaeochromocytoma	CDKN1B CHGA DMBT1 HSD17B10 L1CAM RET SDHA SDHB	1027 1113 1755 3028 3897 5979 6389 6390	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110584	autosomal dominant nonsyndromic deafness 6 Aliases: DFNA14 DFNA38 DFNA6 autosomal dominant deafness 14 autosomal dominant deafness 38 autosomal dominant deafness 6	WFS1	7466	Homo sapiens (human)	Alliance of Genome Resources
DOID:5768	Nager acrofacial dysostosis Aliases: AFD Nager syndrome acrofacial dysostosis 1, Nager type preaxial acrofacial dysostosis preaxial manibulofacial dysostosis	SF3B4	10262	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080551	Naxos disease	JUP	3728	Homo sapiens (human)	Alliance of Genome Resources
DOID:4362	cervical cancer Aliases: cervical neoplasm cervix cancer cervix uteri cancer neoplasm of uterine cervix tumor of the Cervix Uteri uterine cervical neoplasm	APEX1 BIRC2 BRCA1 BSG CD55 CDC25A CDH13 ERBB4 HLA-B HLA-DPB1 HLA-DQB1 HNRNPC HRAS HSPA8 IL10 KDM3A KMT2A KMT2E KRAS MAP2K3 MAP2K6 MDC1 MMP13 MMP1 NRAS PGM3 PTK2 PTPN11 PTPN6 SF3B4 SMAD4 SOS1 TAP1 TNF TNFRSF10A XRCC1 ZFHX3	1012 10262 1604 2066 3106 3115 3119 3183 3265 328 329 3312 3586 3845 4089 4297 4312 4322 463 4893 5238 55818 55904 5606 5608 5747 5777 5781 6654 672 682 6890 7124 7515 8797 9656 993	Homo sapiens (human)	Alliance of Genome Resources
DOID:9246	cerebral amyloid angiopathy Aliases: Cerebral Hemorrhage, Hereditary, with Amyloidosis Hereditary Cerebral Hemorrhage with Amyloidosis	AOC3 AQP4 CCR1 ITM2B MME OLR1	1230 361 4311 4973 8639 9445	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070484	Legius syndrome Aliases: LGSS NF1-like syndrome neurofibromatosis type 1-like syndrome	SPRED1	161742	Homo sapiens (human)	Alliance of Genome Resources

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