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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 **7676 - 7700** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲	Source
DOID:3659	sialuria	GNE SLC17A5	10020 26503	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111351	D-2-hydroxyglutaric aciduria 1 Aliases: D2HGA1	D2HGDH	728294	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060131	alexithymia	SLC6A4	6532	Homo sapiens (human)	Alliance of Genome Resources
DOID:2920	membranoproliferative glomerulonephritis Aliases: Lobular glomerulonephritis chronic glomerulonephritis, lobular	ANGPT2 CCL2 CCN2 CCR6 CDKN1B CFB CFH CXCR1 EDN1 EP300 F5 FN1 MYOC PFN1 PRF1 SPARC TGFBR2 TSLP	1027 1235 1490 1906 2033 2153 2335 285 3075 3577 4653 5216 5551 629 6347 6678 7048 85480	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080948	agenesis of corpus callosum, cardiac, ocular, and genital syndrome	CDH2	1000	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070139	autosomal recessive cutis laxa type IC Aliases: ARCL1C autosomal recessive cutis laxa type 1C	LTBP4	8425	Homo sapiens (human)	Alliance of Genome Resources
DOID:2218	blood platelet disease Aliases: Thrombocytopathy platelet disorder	CD36 EPHB2 FLI1 GP6 ITGB3 TBXA2R TPM4	2048 2313 3690 51206 6915 7171 948	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050768	mitochondrial complex V (ATP synthase) deficiency nuclear type 1 Aliases: MC5DN1	ATPAF2	91647	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111079	birdshot chorioretinopathy Aliases: BSCR birdshot chorioretinitis birdshot retinochoroiditis birdshot retinochoroidopathy vitiliginous choroiditis	HLA-B IL2	3106 3558	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111063	hyperphosphatemic familial tumoral calcinosis Aliases: HFTC HHS PHPTC cortical hyperostosis with hyperphosphatemia familial Teutschlaender disease familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome hypercalcemic tumoral calcinosis hyperostosis with hyperphosphatemia hyperphosphatemia hyperostosis hyperphosphatemia hyperostosis syndrome hyperphosphatemia tumoral calcinosis lipocalcinogranulomatosis morbus Teutschlaender primary hyperphosphatemic tumoral calcinosis tumoral calcinosis with hyperphosphatemia	GALNT3 GOLGB1 KL	2591 2804 9365	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0050733	methylmalonic aciduria and homocystinuria type cblG	MTR	4548	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050947	hereditary hypophosphatemic rickets with hypercalciuria	SLC34A1 SLC34A3	142680 6569	Homo sapiens (human)	Alliance of Genome Resources
DOID:9513	plasma cell leukemia Aliases: plasma cell leukaemia plasmacytic leukaemia plasmacytic leukemia	CD40 TERT	7015 958	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050848	obstructive sleep apnea Aliases: obstructive sleep apnea syndrome	ABCB1 ACE ADORA1 ADRB1 BDNF BMP7 CCL2 CCL5 CYSLTR1 CYSLTR2 EDN1 EDNRA GHRL GHSR HP ICAM1 IL10 IL6 LEP LEPR MMP9 MUC1 NGF NOS2 NOS3 NR3C1 NRG1 NTRK1 PLA2G7 PTGS2 RELA SERPINE1 SFTPB SLC6A4 TNF TNFRSF1A	10800 134 153 1636 1906 1909 2693 2908 3084 3240 3383 3569 3586 3952 3953 4318 4582 4803 4843 4846 4914 5054 51738 5243 57105 5743 5970 627 6347 6352 6439 6532 655 7124 7132 7941	Homo sapiens (human)	Alliance of Genome Resources
DOID:14289	Ebstein anomaly Aliases: Ebstein's anomaly Ebstein's anomaly of common atrioventricular valve Ebstein's anomaly of right atrioventricular valve Ebstein's anomaly of tricuspid valve	BMPR1A	657	Homo sapiens (human)	Alliance of Genome Resources
DOID:11336	rhinoscleroma	HLA-DQA1 HLA-DQB1	3117 3119	Homo sapiens (human)	Alliance of Genome Resources
DOID:8545	malignant hyperthermia Aliases: anesthesia related hyperthermia malignant hyperpyrexia due to anesthesia	CACNA1S CACNG1 RYR1 RYR2 RYR3	6261 6262 6263 779 786	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070024	autosomal recessive dyskeratosis congenita 6 Aliases: DKCB6	PARN	5073	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081164	dilated cardiomyopathy 3B	DMD	1756	Homo sapiens (human)	Alliance of Genome Resources
DOID:9268	glycine encephalopathy Aliases: Non-ketotic hyperglycinemia nonketotic hyperglycinemia	AMT GCSH GLDC SLC6A9	2653 2731 275 6536	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111961	immunodeficiency 26 Aliases: IMD26 SCID due to DNA-PKcs deficiency immunodeficiency 26, with or without neurologic abnormalities severe combined immunodeficiency due to DNA-PKcs deficiency	PRKDC	5591	Homo sapiens (human)	Alliance of Genome Resources
DOID:10941	intracranial aneurysm Aliases: brain aneurysm	AGER AOC3 ARHGEF17 CCL2 CCN1 COL1A2 COL22A1 CTSB CTSK CTSS EDN1 ENG IL6 KLF5 KMT2D MMP12 MMP14 MMP2 MMP9 NOS3 PKD1 PKD2 TIMP1 TNF VCAN VEGFA VWF	1278 1462 1508 1513 1520 169044 177 1906 2022 3491 3569 4313 4318 4321 4323 4846 5310 5311 6347 688 7076 7124 7422 7450 8085 8639 9828	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:0080631	Elsahy-Waters syndrome Aliases: branchioskeletogenital syndrome	CDH11	1009	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080200	bilateral renal aplasia	NPNT	255743	Homo sapiens (human)	Alliance of Genome Resources

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