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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 **10851 - 10875** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼	Source
DOID:0111706	oblique facial clefting 1 Aliases: Tessier number 4 facial cleft	SPECC1L	23384	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080379	nephrotic syndrome type 2 Aliases: steroid-resistant autosomal recessive nephrotic syndrome	ANXA5 NPHS2 NR3C1 PLA2G7 PLCE1 TRPC6	2908 308 51196 7225 7827 7941	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080442	developmental and epileptic encephalopathy 41 Aliases: DEE41 early infantile epileptic encephalopathy 41	SLC1A2	6506	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110709	hypotrichosis 12 Aliases: Hypt12	RPL21	6144	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110414	retinitis pigmentosa 3 Aliases: RP3	RPGRIP1L	23322	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111027	hemochromatosis type 2A Aliases: HFE2A	HJV	148738	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050877	pancreatic agenesis Aliases: Agenesis of the dorsal pancreas partial pancreatic agenesis	PDX1	3651	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111502	combined oxidative phosphorylation deficiency 6 Aliases: COXPD6 Mitochondrial encephalomyopathy due to COXPD6 Mitochondrial encephalomyopathy due to combined oxidative phosphorylation defect 6 severe X-linked mitochondrial encephalomyopathy	AIFM1	9131	Homo sapiens (human)	Alliance of Genome Resources
DOID:74	hematopoietic system disease Aliases: Blood disease Blood dyscrasia DISEASE OF THE BLOOD AND BLOOD-FORMING ORGANS Hematological disease blood disorder disease of haematopoietic system disease of hematopoietic system haematopoietic system disease	SERPINE1 UGT1A1	5054 54658	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081030	central conducting lymphatic anomaly Aliases: lymphatic malformation-7	EPHB4	2050	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:3774	chordoid glioma Aliases: Chordoid glioma of 3rd Ventricle Chordoid glioma of third ventricle third ventricle chordoid glioma	PRKCA	5578	Homo sapiens (human)	Alliance of Genome Resources
DOID:850	lung disease	ACE2 ACE ACTR2 ADORA1 ADORA2A APEX1 BDKRB2 C3AR1 C5AR1 CAT CCL2 CCL5 CCR2 CFTR CNTN2 COL5A2 CSF3 CX3CL1 DEFB1 EDNRA EGFR EGR1 F2RL1 GPX3 GSN HLA-DPB1 IFNG IL10 IL13 IL15 IL18R1 IL1A IL2 IL6 MEFV MIF MMP9 MPO MUC1 NOS2 NOS3 NR3C1 SERPINE1 SFTPA1 SFTPA2 SFTPB SFTPC SFTPD TGFB1 TLR2 TLR4 TNF	10097 1080 1290 134 135 1440 1636 1672 1909 1956 1958 2150 2878 2908 2934 3115 328 3458 3552 3558 3569 3586 3596 3600 4210 4282 4318 4353 4582 4843 4846 5054 59272 624 6347 6352 6376 6439 6440 6441 653509 6900 7040 7097 7099 7124 719 728 729230 729238 847 8809	Homo sapiens (human)	Alliance of Genome Resources
DOID:543	dystonia Aliases: dystonic disease	ATP2B4 BCHE TOR1A TOR1B TOR2A TOR3A	1861 27348 27433 493 590 64222	Homo sapiens (human)	Alliance of Genome Resources
DOID:1495	cystic echinococcosis Aliases: Echinococcus granulosus infection Echinococcus granulosus infection of lung Echinococcus granulosus infection of thyroid Liver echinococcus granulosus Thyroid echinococcus granulosus echinococcus granulosus echinococcus granulosus infectious disease echinococcus granulosus infectious disease of liver echinococcus granulosus infectious disease of thyroid lung echinococcus granulosus unilocular echinococcosis unilocular hydatid disease	HLA-DQB1 HLA-DRB1 IL4 TLR2 TLR4	3119 3123 3565 7097 7099	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081190	autosomal recessive intellectual developmental disorder 18	MED23	9439	Homo sapiens (human)	Alliance of Genome Resources
DOID:2531	hematologic cancer Aliases: Hematologic malignancy Hematologic neoplasm Hematological tumors blood cancer hematopoietic and lymphoid system tumor hematopoietic cancer hematopoietic neoplasm hematopoietic tumors malignant hematopoietic neoplasm	CUX1 JAK1 JAK3 PIAS1 PIAS2 SLC19A1 TP53 TYK2	1523 3716 3718 6573 7157 7297 8554 9063	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080041	hypochondroplasia	FGFR3	2261	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070050	neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language Aliases: MRD20 autosomal dominant mental retardation 20 mental retardation, autosomal dominant 20	MEF2C	4208	Homo sapiens (human)	Alliance of Genome Resources
DOID:2835	polycythemia due to hypoxia	PXK SNX16	54899 64089	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070016	autosomal dominant dyskeratosis congenita 2 Aliases: DKCA2	TERT	7015	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060772	multiple types of congenital heart defects 6 Aliases: DTGA3 dextro-looped transposition of the great arteries 3	GDF1	2657	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111019	cone-rod dystrophy 12 Aliases: CORD12	PROM1	8842	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111983	immunodeficiency 52 Aliases: IMD52 severe combined immunodeficiency due to LAT deficiency	LAT	27040	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080913	cerebrooculofacioskeletal syndrome 3	ERCC5	2073	Homo sapiens (human)	Alliance of Genome Resources

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