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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 **9901 - 9925** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼	Source
DOID:2876	laryngeal squamous cell carcinoma Aliases: Epidermoid carcinoma of the Larynx squamous cell carcinoma of larynx	CAT CDC73 EGFR ERBB2 ERBB3 ERBB4 FOXL2 GPX1 MAP2K4 MLH1 MMP2 MSH2 PLCG1 RELA	1956 2064 2065 2066 2876 4292 4313 4436 5335 5970 6416 668 79577 847	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110150	Charcot-Marie-Tooth disease type 1D Aliases: CMT1D Charcot-Marie-Tooth neuropathy type 1D HMSN ID HMSN1D hereditary motor and sensory neuropathy 1D	EGR2	1959	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060213	frontotemporal dementia and/or amyotrophic lateral sclerosis 1 Aliases: ALSFTD FTDALS1 FTDMND amyotrophic lateral sclerosis and/or frontotemporal dementia frontotemporal dementia and/or motor neuron disease	C9orf72	203228	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060856	right atrial isomerism Aliases: Ivemark syndrome asplenia with cardiovascular anomalies	ACVR2B CFC1 CFC1B	55997 653275 93	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050117	disease by infectious agent Aliases: infectious disease	ERCC5 MBL2 SERPIND1	2073 3053 4153	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111973	immunodeficiency 17 Aliases: CD3-gamma deficiency IMD17 SCID-like immunodeficiency, T cell-partial, B cell-positive, NK cell-positive immunodeficiency 17, CD3 gamma deficient	CD3G	917	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080679	neuronal intestinal dysplasia type A	ERBB3	2065	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080521	lung non-squamous non-small cell carcinoma Aliases: non- squamous NSCLC	DAXX	1616	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110721	neuronal ceroid lipofuscinosis 1 Aliases: CLN1 neuronal ceroid lipofuscinosis 1 variable age of onset	CLN3 PPT1	1201 5538	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110814	hereditary spastic paraplegia 63 Aliases: SPG63 autosomal recessive spastic paraplegia 63 spastic paraplegia 63	AMPD2	271	Homo sapiens (human)	Alliance of Genome Resources
DOID:1837	diabetic ketoacidosis Aliases: DIABETES MELLITUS, KETOSIS-PRONE ketosis-prone diabetes mellitus	AQP2 SERPINA7	359 6906	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070347	encephalopathy due to defective mitochondrial and peroxisomal fission 1	DNM1L	10059	Homo sapiens (human)	Alliance of Genome Resources
DOID:2219	Glanzmann's thrombasthenia Aliases: BDPLT2 Glanzmann thrombasthenia Glycoprotein IIb/IIIa defect Thrombocytasthenia deficiency of GP IIb-IIIa complex deficiency of glycoprotein complex IIb-IIIa deficiency of platelet fibrinogen receptor platelet glycoprotein IIb-IIIa deficiency platelet-type bleeding disorder 2 thrombasthenia of Glanzmann and Naegeli	ITGA2 ITGA2B ITGB3	3673 3674 3690	Homo sapiens (human)	Alliance of Genome Resources
DOID:14447	gonadal dysgenesis Aliases: Gonadal dysgenesis syndrome	CBX2 DLC1 STARD13	10395 84733 90627	Homo sapiens (human)	Alliance of Genome Resources
DOID:4676	uremia Aliases: UREMIA OF renal ORIGIN	AGER AGL ALPL ANGPT2 COMT EDN1 FGF23 HNRNPD MSTN NOS2 PTK2	1312 177 178 1906 249 2660 285 3184 4843 5747 8074	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111002	Joubert syndrome 7 Aliases: JBTS7	RPGRIP1L	23322	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090080	hypogonadotropic hypogonadism 16 with or without anosmia	SEMA3A	10371	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112171	wrinkly skin syndrome Aliases: WSS	ATP6V0A2	23545	Homo sapiens (human)	Alliance of Genome Resources
DOID:12557	Duane retraction syndrome Aliases: Duane's syndrome Stilling-Turk-Duane syndrome	SALL4	57167	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080684	diffuse midline glioma, H3 K27M-mutant Aliases: diffuse intrinsic pontine glioma	H3-3A H3-3B	3020 3021	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111212	autosomal dominant distal hereditary motor neuronopathy 9 Aliases: DHMN9 HMN9 distal hereditary motor neuronopathy type 9 distal hereditary motor neuropathy type IX	WARS1	7453	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080158	herpes simplex virus keratitis Aliases: dendritic keratitis	APOE IL1RN TLR4	348 3557 7099	Homo sapiens (human)	Alliance of Genome Resources
DOID:784	chronic kidney disease Aliases: CKD CRF chronic kidney failure chronic renal disease chronic renal failure syndrome renal failure - chronic	AGER AGTR1 AGTR2 AKAP12 APOA4 APOC3 AZGP1 CBR1 CLU COL6A3 CPB2 DGAT1 DGAT2 DNM1L FGF23 GP1BA GPX1 GRP HAVCR1 HMGCR HP HPR IL1RN INSR KL KLK1 LEPR MAP3K7 MAS1 MYH9 NFE2L2 NOS3 NPPA NPPB NR4A1 OPA1 PCSK2 POSTN RBP4 SALL1 SHH SHROOM3 SLC19A1 SLC19A2 SLC19A3 SLC34A1 SLC46A1 SYNPO TERT TLR9 VCAM1	10059 10560 10631 113235 11346 1191 1293 1361 177 185 186 26762 2811 2876 2922 3156 3164 3240 3250 337 345 3557 3643 3816 3953 4142 4627 4780 4846 4878 4879 4976 5126 54106 563 57619 5950 6299 6469 6569 6573 6885 7015 7412 80704 8074 84649 8694 873 9365 9590	Homo sapiens (human)	Alliance of Genome Resources
DOID:4250	conjunctivochalasis	MMP3 MMP9	4314 4318	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111385	inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 1 Aliases: IBMPFD1 MSP1 multisystem proteinopathy 1	VCP	7415	Homo sapiens (human)	Alliance of Genome Resources

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