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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 **9576 - 9600** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼	Source
DOID:0070170	spermatogenic failure 19 Aliases: SPGF19	CFAP43	80217	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110409	retinitis pigmentosa 46 Aliases: RP46	IDH3B	3420	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060540	Hermansky-Pudlak syndrome 2	AP3B1	8546	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110704	hypotrichosis 7 Aliases: Hypt7 Lah2 hypotrichosis, localized, autosomal recessive 2 total Mari type hypotrichosis,	LIPH	200879	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060335	autosomal dominant sideroblastic anemia 4	HSPA9	3313	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070341	neonatal-onset type II citrullinemia Aliases: neonatal-onset type 2 citrullinemia	SLC25A12 SLC25A13	10165 8604	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050782	Zollinger-Ellison syndrome	ALB EGF IGF1R	1950 213 3480	Homo sapiens (human)	Alliance of Genome Resources
DOID:885	fascioliasis Aliases: Fasciola hepatica infection Infection by Fasciola Liver flukes Sheep liver fluke infection	CTSB GLUD1 GLUD2	1508 2746 2747	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080061	autosomal recessive spinocerebellar ataxia 2 Aliases: SCAR2	PMPCA	23203	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081221	autosomal recessive intellectual developmental disorder 59	IMPA1	3612	Homo sapiens (human)	Alliance of Genome Resources
DOID:2228	thrombocytosis Aliases: Thrombocythaemia	CALR CPB2 MPL THPO	1361 4352 7066 811	Homo sapiens (human)	Alliance of Genome Resources
DOID:10113	trypanosomiasis	A2M BCHE IL4	2 3565 590	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050419	complement factor I deficiency Aliases: C3 INACTIVATOR DEFICIENCY COMPLEMENT COMPONENT 3 INACTIVATOR DEFICIENCY	CFI	3426	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111437	optic atrophy 7 Aliases: OPA7 optic atrophy 7 with or without auditory neuropathy	TMEM126A	84233	Homo sapiens (human)	Alliance of Genome Resources
DOID:11725	Cornelia de Lange syndrome Aliases: Brachmann de Lange syndrome De Lange syndrome	NIPBL PDS5A SMC1A SMC3	23244 25836 8243 9126	Homo sapiens (human)	Alliance of Genome Resources
DOID:14761	Greig cephalopolysyndactyly syndrome Aliases: polysyndactyly with peculiars skull shape	GLI3	2737	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050741	alcohol dependence Aliases: alcoholism	ADH1B ADH1C ADH4 ADRA2A AGO1 AGO2 AHR ALDH2 ANGPT1 AR BDNF BMAL1 BPTF CACNA1C CCK CHRNA3 CHRNB3 COMT CPE CREB1 CYP2C9 CYP2E1 CYP3A5 DRD1 DRD2 DRD4 FMN1 FOS FOSB GABBR1 GABRA2 GABRB3 GABRG2 GAD1 GAD2 GDNF GEMIN4 GGT1 GGTLC1 GGTLC2 GRIN2A GRM8 HTR1A HTR1B HTR2A HTR3A IGF1R IL1RN INSR INSRR KCNB2 LEP NCAM1 NGF NGFR NR3C2 NRXN3 NUCB2 OPRD1 OPRK1 OPRM1 PDE4B PER2 POMC PRL RPS6KB1 SLC29A1 SLC6A1 SLC6A2 SLC6A4 TAS2R16 XRCC5	1136 1142 125 126 127 1312 1363 1385 150 1559 1571 1577 1812 1813 1815 196 2030 217 2186 2353 2354 2550 2555 2562 2566 2571 2572 26523 2668 2678 27161 284 2903 2918 3350 3351 3356 3359 342184 3480 3557 3643 3645 367 3952 406 4306 4684 4803 4804 4925 4985 4986 4988 50628 50833 5142 5443 5617 6198 627 6529 6530 6532 7520 775 885 8864 91227 92086 9312 9369	Homo sapiens (human)	Alliance of Genome Resources
DOID:525	central nervous system vasculitis	HLA-A	3105	Homo sapiens (human)	Alliance of Genome Resources
DOID:0040085	bacterial sepsis	TREM1	54210	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110351	osteogenesis imperfecta type 11 Aliases: OI11 osteogenesis imperfecta type XI	FKBP10	60681	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110122	Axenfeld-Rieger syndrome type 3 Aliases: Axenfeld-Rieger anomaly with or without cardiac defects and/or sensorineural hearing loss RIEG3 Rieger syndrome type 3 anterior chamber cleavage syndrome anterior segment mesenchymal dysgenesis	BMP4 FOXC1	2296 652	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110916	hereditary spherocytosis type 1 Aliases: HS1 SPH1 hereditary spherocytosis 1	ADD2 ANK1 EPB42 SPTA1	119 2038 286 6708	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081177	autosomal recessive intellectual developmental disorder 1	PRSS12	8492	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050696	fetal alcohol spectrum disorder	CRHR1 DNMT1 DRD2 EHMT2 GABRB3 GABRG2 GRIN2B HDAC2 HDAC4 HSD11B2 IGF1R LINC02210-CRHR1 MAT2A MECP2 MTR NR3C1 NR3C2 OPRK1 OPRL1 PER2 POMC PRL PTEN RASGRF1 SETD7 SLC25A12 SLC6A4 UBE3A	104909134 10919 1394 1786 1813 2562 2566 2904 2908 3066 3291 3480 4144 4204 4306 4548 4986 4987 5443 5617 5728 5923 6532 7337 80854 8604 8864 9759	Homo sapiens (human)	Alliance of Genome Resources
DOID:2732	Rothmund-Thomson syndrome Aliases: Congenital poikiloderma RTS	ANAPC1 RECQL4	64682 9401	Homo sapiens (human)	Alliance of Genome Resources

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