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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 **3776 - 3800** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲	Source
DOID:1307	dementia	ADIPOQ BACE1 BAX BCHE CAPZB DRD2 E2F1 EGFR GRN HMGCR IGF1R LRP8 LRPAP1 MAPT NGFR NOS2 NOTCH4 NRG1 PCSK1N PLA2G7 PON1 VCP VLDLR	1813 1869 1956 23621 27344 2896 3084 3156 3480 4043 4137 4804 4843 4855 5444 581 590 7415 7436 7804 7941 832 9370	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111777	46,XY sex reversal 2 Aliases: 46,XY sex reversal, DAX1-related 46XY sex reversal 2, dosage-sensitive SRXY2 dosage-sensitive sex reversal	NR0B1	190	Homo sapiens (human)	Alliance of Genome Resources
DOID:11206	opioid abuse	CREB1 DRD4 FOSB GRIN1 GRIN2A GRIN2B NCAM1 NR3C1 OPRD1 OPRK1 OPRM1	1385 1815 2354 2902 2903 2904 2908 4684 4985 4986 4988	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070469	neurodevelopmental disorder with dysmorphic facies and thin corpus callosum Aliases: NEDDFAC	SUPT16H	11198	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050891	adrenal cortical adenoma Aliases: adrenocortical adenoma	CYP11B1 CYP11B2	1584 1585	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070097	oculocutaneous albinism type III Aliases: OCA3 Rufous Oculocutaneous Albinism	TYRP1	7306	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081398	holoprosencephaly 12 Aliases: holoprosencephaly-12 with or without pancreatic agenesis	CNOT1	23019	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110154	Charcot-Marie-Tooth disease type 2A1 Aliases: CMT2A1 Charcot-Marie-Tooth disease neuronal type 2A1 Charcot-Marie-Tooth neuropathy type 2A1 HMSN IIA1 HMSN2A1 autosomal dominant Charcot-Marie-Tooth disease axonal type 2A1 hereditary motor and sensory neuropathy IIA1	KIF1B	23095	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112237	lissencephaly 1 Aliases: LIS1 PAFAH1B1-related lissencephaly	PAFAH1B1	5048	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070302	multiple epiphyseal dysplasia 7 Aliases: EDM7	CANT1	124583	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060565	Ritscher-Schinzel syndrome Aliases: CCC dysplasia craniocerebellocardiac dysplasia	VPS35L	57020	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111068	congenital bile acid synthesis defect 4 Aliases: CBAS4 intrahepatic cholestasis with defective conversion of trihydroxycoprostanic acid to cholic acid trihydroxycoprostanic acid in bile	AMACR	23600	Homo sapiens (human)	Alliance of Genome Resources
DOID:4467	clear cell renal cell carcinoma Aliases: Clear cell carcinoma of kidney clear cell kidney carcinoma conventional (Clear cell) renal cell carcinoma conventional renal cell carcinoma renal clear cell carcinoma	ACKR3 AGER BAX CXCR4 DDR1 ENG EP300 F2 FTO GATA2 IGF1R KAT8 MMP12 MYC PAK4 PDGFB SETD2 SMARCB1 SRSF4 SRSF5 SRSF6 SRSF7 TP53	10298 177 2022 2033 2147 2624 29072 3480 4321 4609 5155 57007 581 6429 6430 6431 6432 6598 7157 780 7852 79068 84148	Homo sapiens (human)	Alliance of Genome Resources
DOID:8354	complement component 3 deficiency Aliases: C3 deficiency	C3	718	Homo sapiens (human)	Alliance of Genome Resources
DOID:5750	endometrial serous adenocarcinoma Aliases: uterine corpus serous adenocarcinoma uterine papillary serous carcinoma uterine serous carcinoma	BRCA2 POLE	5426 675	Homo sapiens (human)	Alliance of Genome Resources
DOID:768	retinoblastoma Aliases: RB RB - Retinoblastoma neuroblastoma of Retina	CADM2 FAS IFNB1 KDM1B MGMT MTR RB1 SERPINF1 SNCG	221656 253559 3456 355 4255 4548 5176 5925 6623	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111892	Diamond-Blackfan anemia 11 Aliases: DBA11 RPL26-related Diamond-Blackfan anemia	RPL26	6154	Homo sapiens (human)	Alliance of Genome Resources
DOID:4780	anti-basement membrane glomerulonephritis Aliases: anti-GBM glomerulonephritis	AGT AGTR1 BAX CCL2 CCL5 CD40LG CD80 CLU CSF1 CSF1R CTLA4 CX3CL1 FCGR3A HLA-DPB1 HLA-DRB1 IL10 IL17A IL1RN IL4 ITGA4 MAPK14 MIF MMP12 MMP14 NOS2 PDCD1 SELP SLIT2 SYK TNF	1191 1432 1435 1436 1493 183 185 2214 3115 3123 3557 3565 3586 3605 3676 4282 4321 4323 4843 5133 581 6347 6352 6376 6403 6850 7124 9353 941 959	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110870	congenital stationary night blindness 1A Aliases: CSNB1A NBMI complete CSNB X-linked congenital stationary night blindness 1A X-linked congenital stationary night blindness with myopia hemeralopia-myopia myopia-night blindness	NYX	60506	Homo sapiens (human)	Alliance of Genome Resources
DOID:2475	chronic conjunctivitis	FAS LAMP2	355 3920	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111909	autosomal dominant thrombophilia due to protein C deficiency Aliases: THPH3 autosomal dominant PROC deficiency autosomal dominant protein C deficiency	PROC	5624	Homo sapiens (human)	Alliance of Genome Resources
DOID:10939	antisocial personality disorder Aliases: Asocial personality Dissocial personality disorder Psychopath.personality Psychopathic personality Psychopathic personality disorder sociopathic personality	ABCB1 CACNG8 DRD4 HTR1B	1815 3351 5243 59283	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110808	hereditary spastic paraplegia 56 Aliases: SPG56 autosomal recessive spastic paraplegia 56 autosomal recessive spastic paraplegia type 56	CYP2U1	113612	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110584	autosomal dominant nonsyndromic deafness 6 Aliases: DFNA14 DFNA38 DFNA6 autosomal dominant deafness 14 autosomal dominant deafness 38 autosomal dominant deafness 6	WFS1	7466	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050185	erythema multiforme	CD40 CD40LG CD8A HLA-DQB1 VEGFA	3119 7422 925 958 959	Homo sapiens (human)	Alliance of Genome Resources

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