GlyCosmos Portal

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

Displaying entries **3926 - 3950** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲	Source
DOID:0050629	Aicardi-Goutieres syndrome Aliases: AGS Cree encephalitis	ADAR SAMHD1	103 25939	Homo sapiens (human)	Alliance of Genome Resources
DOID:2377	multiple sclerosis Aliases: Generalized multiple sclerosis insular sclerosis	A2M ACAN ACHE ADIPOQ AGER AGT APOA1 APOC2 B4GALT5 B4GALT6 BDNF CACNA1B CCL1 CCL2 CCL5 CCL7 CCR3 CCR5 CD24 CD28 CD40 CD46 CD86 CIITA CLEC16A COL1A1 CTLA4 CTSB EDN1 FAS FASLG FCGR2A FCGR3A GABRA3 GC GLI1 GRM8 GRN H6PD HDAC1 HLA-DPB1 HLA-DQA1 HLA-DQB1 HLA-DRA HLA-DRB1 HLA-DRB3 HSP90AB1 HSPA8 IFNB1 IFNG IGF2 IL13 IL17A IL21R IL23R IL2RA IL4 IL4R IL6 IRF5 JAG1 KIF1B LRCH1 MAG MBP MMP12 MMP9 MOG MPHOSPH9 NECTIN2 NEFH NEFL NGFR NOTCH4 PDCD1 PHACTR2 PLA2G7 PRF1 PTPRC RGMA RHOA SHH SLC11A1 SPP1 TLR4 TNF TNFRSF1A	100133941 10198 1232 1234 1277 149233 1493 1508 176 177 182 183 1906 2 2212 2214 23095 23143 23274 2556 2638 2735 2896 2918 3065 3115 3117 3119 3122 3123 3125 3312 3326 335 344 3456 3458 3481 355 3559 356 3565 3566 3569 3596 3605 3663 387 4099 4155 4179 4261 43 4318 4321 4340 4744 4747 4804 4855 50615 5133 5551 56963 5788 5819 627 6346 6347 6352 6354 6469 6556 6696 7099 7124 7132 774 7941 9331 9334 9370 940 942 9563 958 9749	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080443	developmental and epileptic encephalopathy 21 Aliases: DEE21 early infantile epileptic encephalopathy 21	NECAP1	25977	Homo sapiens (human)	Alliance of Genome Resources
DOID:5154	borna disease Aliases: Enzootic encephalomyelitis	ALDOC ATF4 ATF6 BDNF CD44 CX3CL1 EIF2A IL16 MIF NGF NTF3 NTRK2 NTRK3 PARG PARP1 SLC6A4	142 22926 230 3603 4282 468 4803 4908 4915 4916 627 6376 6532 83939 8505 960	Homo sapiens (human)	Alliance of Genome Resources
DOID:14179	X-linked agammaglobulinemia Aliases: BTK deficiency Bruton agammaglobulinemia tyrosine kinase deficiency Bruton disease Bruton's Sex-Linked Agammaglobulinemia Bruton's agammaglobulinaemia Bruton's type agammaglobulinemia Bruton-type agammaglobulinemia	BTK	695	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:4556	lung large cell carcinoma Aliases: large cell carcinoma of lung large cell lung carcinoma	CHRNA5 DLL4 NOTCH1 PTPN13	1138 4851 54567 5783	Homo sapiens (human)	Alliance of Genome Resources
DOID:13689	prostate calculus Aliases: Prostatic lithiasis Prostatic stone Stone of prostate calculus of prostate	LTF	4057	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070264	congenital disorder of glycosylation type IIl Aliases: CDG IIl CDG syndrome type IIL CDG2L CDGIIdl COG6-CGD Congenital disorder of glycosylation type 2l	COG6	57511	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0070304	multiple epiphyseal dysplasia 3 Aliases: EDM3 multiple epiphyseal dysplasia 3 with or without myopathy	COL9A3	1299	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110247	cataract 36 Aliases: CATC4 CTRCT36 autosomal recessive congenital cataract 4	TDRD7	23424	Homo sapiens (human)	Alliance of Genome Resources
DOID:5688	Werner syndrome Aliases: WS Werner's syndrome adult premature ageing syndrome adult progeria	BLM LMNA	4000 641	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080943	46,XX sex reversal 5	NR2F2	7026	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111536	Buschke-Ollendorff syndrome Aliases: BOS dermatofibrosis lenticularis disseminata with osteopoikilosis dermatoosteopoikilosis disseminated dermatofibrosis with osteopoikilosis osteopathia condensans disseminata	ELN LEMD3	2006 23592	Homo sapiens (human)	Alliance of Genome Resources
DOID:2696	Leydig cell tumor Aliases: Leydig cell neoplasm	CGA ESR1 FLT1 INHA LHCGR PDGFA PDGFB PDGFRA PDGFRB PRMT5	10419 1081 2099 2321 3623 3973 5154 5155 5156 5159	Homo sapiens (human)	Alliance of Genome Resources
DOID:5212	congenital disorder of glycosylation Aliases: carbohydrate-deficient glycoprotein syndrome	ALG1 ALG1L2 ALG3 ATP6AP2 B4GALT1 NUS1 PMM2	10159 10195 116150 2683 5373 56052 644974	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111887	Diamond-blackfan anemia 3 Aliases: DBA3 RPS24-related Diamond-Blackfan anemia	RPS24	6229	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112007	growth hormone secreting pituitary adenoma 2 Aliases: GH-secreting pituitary adenoma 2 PITA2 X-linked acromegaly acromegaly due to pituitary adenoma 2	GPR101	83550	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070340	classic citrullinemia	ASS1	445	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090082	hypogonadotropic hypogonadism 20 with or without anosmia	FGF17	8822	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080547	metabolic dysfunction-associated steatohepatitis Aliases: MASH NASH non-alcoholic steatohepatitis nonalcoholic steatohepatitis	ACACA ACER3 ADRA2A APOA1 AZGP1 CCL2 CCL5 CD68 CLDN1 COL1A1 CPT1A CYP27A1 CYP7A1 GPBAR1 HSPA5 HTR2B ICAM1 IL10 IL6 IRF5 KRT18 LEPR MC4R MLXIPL NFE2L2 NFKB1 NOX4 PCK1 PDGFRB RIPK3 SCD SERPINF1 SMAD4 SOD1 SOD2 SPHK2 SREBF1 TIMP1 TNF	11035 1277 1374 150 151306 1581 1593 31 3309 335 3357 3383 3569 3586 3663 3875 3953 4089 4160 4780 4790 50507 5105 51085 5159 5176 55331 563 56848 6319 6347 6352 6647 6648 6720 7076 7124 9076 968	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111862	congenital bilateral absence of vas deferens Aliases: CAVD CBAVD congenital bilateral agenesis of vas deferens congenital bilateral aplasia of vas deferens	CFTR	1080	Homo sapiens (human)	Alliance of Genome Resources
DOID:11555	Fuchs' endothelial dystrophy Aliases: FCED Fuchs' corneal dystrophy Fuchs' endothelial corneal dystrophy	AGBL1 C3 CLU COL8A2 LOXHD1 SLC4A11 TCF4 ZEB1	1191 123624 125336 1296 6925 6935 718 83959	Homo sapiens (human)	Alliance of Genome Resources
DOID:8649	tongue cancer Aliases: malignant neoplasm of tongue	FGFR3 RICTOR	2261 253260	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050922	gastrointestinal carcinoma	GRB7 NOD2	2886 64127	Homo sapiens (human)	Alliance of Genome Resources

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