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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 **10551 - 10575** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼	Source
DOID:12679	nephrocalcinosis	BRD4	23476	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110818	hereditary spastic paraplegia 73 Aliases: SPG73 autosomal dominant spastic paraplegia 73 autosomal dominant spastic paraplegia type 73	CPT1C	126129	Homo sapiens (human)	Alliance of Genome Resources
DOID:1319	brain cancer Aliases: BT - Brain tumour adult brain tumor adult malignant brain neoplasm brain neoplasm brain neoplasm, adult malignant brain tumour malignant primary brain neoplasm malignant primary brain tumor malignant tumor of Brain malignant tumor of adult brain neoplasm of brain primary brain neoplasm primary brain tumor primary malignant neoplasm of brain tumor of the Brain	AURKB HES1 L3MBTL1 L3MBTL4 LLGL1 LLGL2 MYC NOTCH1 NOTCH2 NOTCH3 NUMBL TERT VPS26A	26013 3280 3993 3996 4609 4851 4853 4854 7015 91133 9212 9253 9559	Homo sapiens (human)	Alliance of Genome Resources
DOID:2223	platelet storage pool deficiency Aliases: Dense body defect Platelet dense granule deficiency Platelet storage pool defect	AP3B1 DOCK7 DTNBP1 LYST SLC7A11	1130 23657 84062 85440 8546	Homo sapiens (human)	Alliance of Genome Resources
DOID:381	arthropathy Aliases: Ankylosis of joint of ankle and/or foot Ankylosis of joint of forearm Ankylosis of joint of hand Ankylosis of joint of lower leg Ankylosis of joint of upper arm Ankylosis of multiple joints Infectious arthropathy Joint ankylosis of the ankle and foot Joint ankylosis of the ankle and/or foot Joint ankylosis of the forearm Joint ankylosis of the hand Joint ankylosis of the lower leg Joint ankylosis of the pelvic region and thigh Joint ankylosis of the shoulder region Joint ankylosis of the upper arm ankylosis of ankle and foot joint ankylosis of forearm joint ankylosis of hand joint ankylosis of joint of multiple sites ankylosis of joint of pelvic region and thigh ankylosis of joint of shoulder region ankylosis of lower leg joint ankylosis of upper arm joint	CCN6	8838	Homo sapiens (human)	Alliance of Genome Resources
DOID:218	ascending colon cancer Aliases: Ca ascending colon malignant neoplasm of right colon malignant tumor of ascending colon	POLE RNF43	5426 54894	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081128	mandibuloacral dysplasia type A lipodystrophy	LMNA	4000	Homo sapiens (human)	Alliance of Genome Resources
DOID:11429	endometriosis of pelvic peritoneum	CD68	968	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070357	nephrotic syndrome type 20	TBC1D9B	23061	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060450	Lisch epithelial corneal dystrophy Aliases: LECD band-shaped and whorled microcystic	MCOLN1	57192	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112227	tubulinopathy	TUBB1 TUBB2A TUBB2B TUBB3 TUBB4A TUBB4B TUBB6 TUBB	10381 10382 10383 203068 347733 7280 81027 84617	Homo sapiens (human)	Alliance of Genome Resources
DOID:874	bacterial pneumonia Aliases: Pneumonia due to other gram-negative bacteria gram-negative pneumonia	CAT CSF3 CYP2J2 F2 IL1RL1 ITGB3 MBL2 MMP9 MPO PDPN PECAM1 SFTPA1 SFTPA2 SFTPB SFTPC SFTPD TLR2 TLR6 TNF TREM1	10333 10630 1440 1573 2147 3690 4153 4318 4353 5175 54210 6439 6440 6441 653509 7097 7124 729238 847 9173	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060369	Parkinson's disease 6 Aliases: PARK6 autosomal recessive early-onset Parkinson disease 6 autosomal recessive early-onset Parkinson's disease 6 early-onset Parkinson disease 6	PINK1	65018	Homo sapiens (human)	Alliance of Genome Resources
DOID:869	cholesteatoma	EREG HGF IL1A MMP2 MMP9 STAT4 TLR2 TLR4 VEGFA	2069 3082 3552 4313 4318 6775 7097 7099 7422	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050470	Donohue syndrome Aliases: Leprechaunism	INSR	3643	Homo sapiens (human)	Alliance of Genome Resources
DOID:12205	dengue disease Aliases: Dengue Fever breakbone fever classic dengue	CD209 F2 FCGR2A GC IFNL1	2147 2212 2638 282618 30835	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080719	congenital myopathy 6 Aliases: inclusion body myopathy 3 proximal myopathy and ophthalmoplegia	MYH15 MYH1 MYH7	22989 4619 4625	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111133	focal segmental glomerulosclerosis 8 Aliases: FSGS8	ANLN	54443	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080585	Van Maldergem syndrome 1	DCHS1	8642	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060649	congenital hereditary endothelial dystrophy of cornea Aliases: CHED	SLC4A11	83959	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081015	congenital fibrosis of the extraocular muscles 1	KIF21A	55605	Homo sapiens (human)	Alliance of Genome Resources
DOID:4930	nasal cavity adenocarcinoma Aliases: adenocarcinoma of the nasal cavity	CLU	1191	Homo sapiens (human)	Alliance of Genome Resources
DOID:2224	essential thrombocythemia Aliases: Essential thrombocythaemia familial thrombocytosis hemorrhagic thrombocythemia hereditary thrombocythemia primary Thrombocytosis	CALR CD36 CD40LG ELANE MPL THPO VCAM1 VWF	1991 4352 7066 7412 7450 811 948 959	Homo sapiens (human)	Alliance of Genome Resources
DOID:3651	pyruvate carboxylase deficiency disease Aliases: deficiency of pyruvic carboxylase	PC	5091	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111842	Keipert syndrome Aliases: KPTS nasodigitoacoustic syndrome	GPC4	2239	Homo sapiens (human)	Alliance of Genome Resources

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