GlyCosmos Portal

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

Displaying entries **5551 - 5575** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲	Source
DOID:5463	cochlear disease	IL6 SLC17A8 TNF	246213 3569 7124	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110448	dilated cardiomyopathy 1HH Aliases: CMD1HH	BAG3	9531	Homo sapiens (human)	Alliance of Genome Resources
DOID:11847	coronary thrombosis Aliases: Coronary artery thrombosis	GP6	51206	Homo sapiens (human)	Alliance of Genome Resources
DOID:2378	relapsing-remitting multiple sclerosis Aliases: RRMS Relapsing-remitting MS	ADAMTS14 APOA4 CD36 CD80 CSPG4 CTSS FAS GRN HAVCR1 HSPA8 MMP19 MMP9 NEFH NEFL NOD2 NOG SERPINE1 TIMP1	140766 1464 1520 26762 2896 3312 337 355 4318 4327 4744 4747 5054 64127 7076 9241 941 948	Homo sapiens (human)	Alliance of Genome Resources
DOID:10933	obsessive-compulsive disorder Aliases: Anancastic neurosis obsessive compulsive disorder	BDNF COMT CREB1 GDNF HRAS HTR2A SLC6A4	1312 1385 2668 3265 3356 627 6532	Homo sapiens (human)	Alliance of Genome Resources
DOID:628	combined T cell and B cell immunodeficiency Aliases: Congenital Combined Immunodeficiency	CD40LG IL2RG	3561 959	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060610	megacystis-microcolon-intestinal hypoperistalsis syndrome Aliases: Berdon syndrome Megacystis microcolon intestinal hypoperistalsis syndrome megacystis-microcolon-intestinal hypoperistalsis syndrome, MMIH visceral myopathy	CHRM3 LMOD1 MYH11 MYL9 MYLK	10398 1131 25802 4629 4638	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112234	microlissencephaly	TUBA1A TUBA1B TUBA1C TUBA4A	10376 7277 7846 84790	Homo sapiens (human)	Alliance of Genome Resources
DOID:10211	cholelithiasis	APOE CCKAR CFTR CYP17A1 UGT1A1	1080 1586 348 54658 886	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070250	autosomal dominant Emery-Dreifuss muscular dystrophy 5 Aliases: EDMD5 Emery-Dreifuss muscular dystrophy 5, autosomal dominant	SYNE2	23224	Homo sapiens (human)	Alliance of Genome Resources
DOID:4906	small intestine adenocarcinoma Aliases: small intestinal adenocarcinoma	MAP2K1 MAP2K2	5604 5605	Homo sapiens (human)	Alliance of Genome Resources
DOID:110	lens disease	ADAMTSL4	54507	Homo sapiens (human)	Alliance of Genome Resources
DOID:3069	malignant astrocytoma Aliases: Astrocytic tumor astrocytoma of Cerebrum astrocytoma of brain astroglioma cerebral astrocytoma	ADGRB1 AKT1 AKT2 AKT3 ANXA1 ATRX BRD7 BST2 CADM2 CAMK2G FUBP1 HRAS IL16 KRAS MAP2K3 MRE11 NF1 PCMT1 SLC7A5	10000 207 208 253559 29117 301 3265 3603 3845 4361 4763 5110 546 5606 575 684 8140 818 8880	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112051	non-syndromic X-linked intellectual disability 30 Aliases: MRX30 MRX47 X-linked mental retardation 30 X-linked mental retardation 30/47 X-linked mental retardation 47	PAK3	5063	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080665	warfarin resistance	CYP2C9	1559	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070267	congenital disorder of glycosylation type IIo Aliases: CCDC115-CDG CDG IIo CDG syndrome type IIo CDG2O CDGIIdo Carbohydrate deficient glycoprotein syndrome type IIo Congenital disorder of glycosylation type 2o	CCDC115	84317	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090116	spondylocarpotarsal synostosis syndrome Aliases: SCT congenital scoliosis with unilateral unsegmented bar congenital synspondylism spondylocarpotarsal syndrome spondylocarpotarsal synostosis vertebral fusion with carpal coalition	FLNB	2317	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110636	congenital merosin-deficient muscular dystrophy 1A Aliases: CMD1A MDC1A Merosin-negative congenital muscular dystrophy congenital muscular dystrophy due to laminin alpha2 deficiency	LAMA2	3908	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080393	nephrotic syndrome type 18	NUP133	55746	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:3443	mammary Paget's disease Aliases: Paget cell neoplasm Paget's disease Paget's disease of the breast mammary Paget disease	ERBB2	2064	Homo sapiens (human)	Alliance of Genome Resources
DOID:11394	adult respiratory distress syndrome Aliases: ARDS Non-cardiogenic pulmonary edema Shock lung acute respiratory distress syndrome adult RDS	AGER AMBP C3 C3AR1 C5 C5AR1 EDN1 F3 HSPA4 ICAM1 IL10 IL15 IL1RN IL9 LEP LTA MBL2 MMP9 MUC1 MYLK NPPB PDPN PLA2G2A PLAU RAMP2 RIPK3 SERPINA3 SERPINE1 SFTPA1 SFTPB SFTPC SFTPD SOD2 TBXA2R THBD TNF TNFRSF1A TNFRSF1B	10266 10630 11035 12 177 1906 2152 259 3308 3383 3557 3578 3586 3600 3952 4049 4153 4318 4582 4638 4879 5054 5320 5328 6439 6440 6441 653509 6648 6915 7056 7124 7132 7133 718 719 727 728	Homo sapiens (human)	Alliance of Genome Resources
DOID:326	ischemia	ABAT ADNP AKT2 ANGPT2 ANXA1 CALCA CCL2 CRHR2 CX3CL1 DLL4 HTR1B ITGAV LIPC LONP1 MMP14 MUC13 MUC2 PRKCA PTGES PTK2 SCNN1A SCNN1B SCNN1D SCNN1G SF1 THBD TNFRSF1A TP53	1395 18 208 23394 285 301 3351 3685 3990 4323 4583 54567 5578 56667 5747 6337 6338 6339 6340 6347 6376 7056 7132 7157 7536 796 9361 9536	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050475	Weill-Marchesani syndrome Aliases: GEMSS syndrome Marchesani-Weill Syndrome Mesodermal Dysmorphodystrophy, Congenital Spherophakia Brachymorphia Syndrome congenital mesodermal dystrophy	ADAMTS10 ADAMTS17 FBN1 LTBP2 TNF	170691 2200 4053 7124 81794	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110414	retinitis pigmentosa 3 Aliases: RP3	RPGRIP1L	23322	Homo sapiens (human)	Alliance of Genome Resources

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