GlyCosmos Portal

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

Displaying entries **10876 - 10900** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼	Source
DOID:0112187	thyroid dyshormonogenesis 3 Aliases: TDH3 genetic defect in thyroid hormonogenesis 3	TG	7038	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111797	autosomal recessive congenital nystagmus Aliases: autosomal recessive congenital motor nystagmus	ROBO1	6091	Homo sapiens (human)	Alliance of Genome Resources
DOID:811	lipodystrophy	AGPAT2 BSCL2 CCL2 LMNA LPIN1 PPARG	10555 23175 26580 4000 5468 6347	Homo sapiens (human)	Alliance of Genome Resources
DOID:7614	meninges sarcoma Aliases: Meningeal sarcoma sarcoma of meninges	TP53	7157	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060466	gingival fibromatosis Aliases: hereditary gingival fibromatosis hereditary gingival hyperplasia	SOS1	6654	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080128	mitochondrial DNA depletion syndrome 9 Aliases: fatal infantile lactic acidosis	SUCLG1	8802	Homo sapiens (human)	Alliance of Genome Resources
DOID:399	tuberculosis	BTNL2 CCL1 CD209 CD274 CYP2B6 CYP2C19 EREG HLA-A HLA-B HLA-DQB1 HLA-DRB1 IFNG IFNGR1 IL22 IRAK3 KIR3DL1 KIR3DS1 KLRK1 NFE2L2 NRG1 PDCD1 SLC11A1 SPP1 TLR1 TLR2 TLR6 TNF TNFRSF1B	10333 11213 1555 1557 2069 22914 29126 30835 3084 3105 3106 3119 3123 3458 3459 3811 3813 4780 50616 5133 56244 6346 6556 6696 7096 7097 7124 7133	Homo sapiens (human)	Alliance of Genome Resources
DOID:3165	skin benign neoplasm Aliases: neoplasm of skin neoplasm of skin by site skin neoplasm tumor of the skin	HRAS	3265	Homo sapiens (human)	Alliance of Genome Resources
DOID:8725	vascular dementia Aliases: Multi Infarct Dementia multifocal dementia	ATP5F1A AVP BDNF CDK5 CREB1 EIF4E EPO FGFR1 FLT1 GPX1 GRIN1 GRIN2A GRIN2B GSK3B HSPA1A IGF1R LPA MAPT MMP2 MTOR NEFL NOX1 PON2 RPGRIP1L RPS6 SNCA SNCG SREBF2 TNF TP53	1020 1385 1977 2056 2260 2321 23322 2475 27035 2876 2902 2903 2904 2932 3303 3480 4018 4137 4313 4747 498 5445 551 6194 627 6622 6623 6721 7124 7157	Homo sapiens (human)	Alliance of Genome Resources
DOID:589	congenital hemolytic anemia Aliases: congenital hemolytic anaemia hereditary hemolytic anaemia hereditary hemolytic anemia	GPI HBB SLC4A1	2821 3043 6521	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060319	cardiac arrest Aliases: cardiopulmonary arrest circulatory arrest	ABCC8 CCL5 EP300 ITPR1 TNF TRPM4	2033 3708 54795 6352 6833 7124	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080821	exercise-induced bronchoconstriction Aliases: exercise-induced asthma	ALOX5 CCL5 TACR1	240 6352 6869	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070242	primary coenzyme Q10 deficiency 5 Aliases: COQ10D5 coenzyme Q10 deficiency, primary, 5 encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome	COQ9	57017	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110375	retinitis pigmentosa 40 Aliases: RP40	PDE6B	5158	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111596	distal arthrogryposis type 1 Aliases: DA1 digitotalar dysmorphism	MYH15 MYH1 MYH7	22989 4619 4625	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111946	immunodeficiency 31C Aliases: CANDF7 IMD31C autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome autosomal dominant chronic mucocutaneous familial candidiasis autosomal dominant immunodeficiency 31C familial candidiasis 7	STAT1	6772	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080771	beta-thalassemia major Aliases: Cooley's anemia	PON1	5444	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111013	cone-rod dystrophy 3 Aliases: CORD3	ABCA4	24	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110942	autosomal recessive osteopetrosis 1 Aliases: OPTB1 autosomal recessive Albers-Schonberg disease infantile malignant osteopetrosis 1	ATP6V0A1 ATP6V0A2 ATP6V0A4	23545 50617 535	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050941	spastic ataxia 2	KIF1C	10749	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080001	bone disease	CCN2 FGFR1 FGFR2 FGFR3 FGFR4 NPR3 PON1	1490 2260 2261 2263 2264 4883 5444	Homo sapiens (human)	Alliance of Genome Resources
DOID:14175	von Hippel-Lindau disease Aliases: Hippel Lindau syndrome von Hippel-Lindau syndrome	EPAS1 MMP3 SLC18A1	2034 4314 6570	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081271	Smith-McCort dysplasia 2	RAB33B	83452	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070459	hereditary spastic paraplegia 90A Aliases: SPG90A autosomal dominant spastic paraplegia 90A	SPTSSA	171546	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112343	hereditary spastic paraplegia 82 Aliases: SPG82 spastic paraplegia 82 autosomal recessive	PCYT2	5833	Homo sapiens (human)	Alliance of Genome Resources

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