GlyCosmos Portal

Source	Last Updated
Alliance of Genome Resources	October 9, 2024
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **12076 - 12100** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼	Source
DOID:3204	schwannomatosis Aliases: SWN neurilemmomatosis neurinomatosis	COQ6 SMARCB1	51004 6598	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081137	agammaglobulinemia 3	CD79A	973	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060025	immunoglobulin alpha deficiency Aliases: IgA deficiency gamma-A-globulin deficiency	CTLA4 HLA-DQB1 ICOS	1493 29851 3119	Homo sapiens (human)	Alliance of Genome Resources
DOID:2945	severe acute respiratory syndrome Aliases: SARS SARS-CoV infection	ABO ACE2 ANPEP BPI C5AR1 CASP9 CCL2 CCL5 CD14 CD4 CD68 CD9 CEACAM8 CLCF1 CLEC4M FGF7 FSHB HLA-B HLA-DRA HLA-DRB1 HP IFNG IL10 IL1R1 IL6 ITGA2B LHB MSR1 PECAM1 PLAT POMC PRL RAB31 SERPINA3 STAT1 TGFB1 THBD TLR2 TNF TSHB	10332 1088 11031 12 2252 23529 2488 28 290 3106 3122 3123 3240 3458 3554 3569 3586 3674 3972 4481 5175 5327 5443 5617 59272 6347 6352 671 6772 7040 7056 7097 7124 7252 728 842 920 928 929 968	Homo sapiens (human)	Alliance of Genome Resources
DOID:12305	Bloch-Sulzberger syndrome Aliases: Incontinentia pigmenti Incontinentia pigmenti syndrome	NSDHL	50814	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111155	autosomal recessive spinocerebellar ataxia 21 Aliases: SCAR21 acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome autosomal recessive spinocerebellar ataxia 21 with hepatopathy	SCYL1	57410	Homo sapiens (human)	Alliance of Genome Resources
DOID:1577	limited scleroderma Aliases: Limited cutaneous systemic sclerosis systemic sclerosis, limited	IL2 KDR PGF STAT4	3558 3791 5228 6775	Homo sapiens (human)	Alliance of Genome Resources
DOID:10881	hand, foot and mouth disease Aliases: Vesicular stomatitis and exanthem	ACTB REN	5972 60	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112230	lissencephaly 5 Aliases: LIS5	LAMB1	3912	Homo sapiens (human)	Alliance of Genome Resources
DOID:2747	glycogen storage disease Aliases: glycogenosis	GYG1 GYS2 PFKL PFKM PFKP PHKA1 PHKA2 PHKG2 PRKAG2 PYGL SLC2A2	2992 2998 51422 5211 5213 5214 5255 5256 5261 5836 6514	Homo sapiens (human)	Alliance of Genome Resources
DOID:8886	chorioretinitis Aliases: retinochoroiditis	COL2A1	1280	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:0080599	Coronavirus infectious disease	ACE CCR1 CCR2 CCR5 CD209 EGFR MBL2 MUC4 MYD88 SERPINE1 SFTPD	1230 1234 1636 1956 30835 4153 4585 4615 5054 6441 729230	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112379	muscular dystrophy-dystroglycanopathy type B4 Aliases: MDDGB4 congenital muscular dystrophy FKTN-related	FKTN	2218	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110463	autosomal recessive nonsyndromic deafness 102 Aliases: DFNB102 autosomal recessive deafness 102	EPS8	2059	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112300	spondylometaphyseal dysplasia with cone-rod dystrophy Aliases: SMD-CRD SMDCRD spondylometaphyseal dysplasia-cone-rod dystrophy syndrome	PCYT1A	5130	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081421	familial focal epilepsy with variable foci 1	DEPDC5	9681	Homo sapiens (human)	Alliance of Genome Resources
DOID:2913	acute pancreatitis	CCK CD163 CX3CL1 F3 F7 IL10 KIT LEP MTNR1B REG3G SERPINA1 TREM1	130120 2152 2155 3586 3815 3952 4544 5265 54210 6376 885 9332	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060806	syndromic X-linked intellectual disability Hedera type Aliases: MRXE MRXSH X-linked mental retardation with epilepsy mental retardation, X-linked, syndromic, Hedera type	ARX ATP6AP2	10159 170302	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110245	cataract 38 Aliases: CATC5 CTRCT38 autosomal recessive congenital cataract 5	AGK	55750	Homo sapiens (human)	Alliance of Genome Resources
DOID:1067	open-angle glaucoma Aliases: Wide-angle glaucoma glaucoma simplex open angle glaucoma pigmentary glaucoma	ADRB2 APOC3 APOE GMDS IL10 IL2 MYOC OPTN PON1 TAP1 TNF	10133 154 2762 345 348 3558 3586 4653 5444 6890 7124	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111366	familial hepatic adenoma Aliases: familial liver cell adenomas	HNF1A	6927	Homo sapiens (human)	Alliance of Genome Resources
DOID:1496	echinococcosis Aliases: Echinococcosis of liver echinococcal disease hepatic echinococcosis hydatid disease hydatidosis liver echinococcus pulmonary echinococcosis	ABO	28	Homo sapiens (human)	Alliance of Genome Resources
DOID:11963	esophagitis Aliases: acute esophagitis	BMP4 IL4R PTGS2 SLC7A5 TNF	3566 5743 652 7124 8140	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060786	hypomyelinating leukodystrophy Aliases: HLD	DEGS1 POLR3A POLR3B	11128 55703 8560	Homo sapiens (human)	Alliance of Genome Resources

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