GlyCosmos Portal

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Alliance of Genome Resources	July 29, 2024
DisGeNET	July 29, 2024
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **2726 - 2750** of **4621** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲
DOID:0112347	hereditary spastic paraplegia 84 Aliases: SPG84 spastic paraplegia 84 autosomal recessive	PI4KA	5297	Homo sapiens (human)
DOID:3179	inverted papilloma Aliases: Inverted papilloma, squamous cell	PIK3CA PIK3CD PIK3CG PTEN	5290 5293 5294 5728	Homo sapiens (human)
DOID:4137	common bile duct disease	SLC25A12 SLC25A13	10165 8604	Homo sapiens (human)
DOID:0060185	Clostridium difficile colitis Aliases: Pseudomembranous colitis	ABO ACACB ACE ACHE ACSBG1 AGA AKR1B1 ARSA CAT CD14 CEACAM6 CHGA COMT CYP2B6 CYP4F3 FCN1 GLB1 GLUL GM2A HSD11B1 HSD11B2 ICAM1 IL18R1 KLB LCT MBL2 NCAM1 PDIA3 PIK3CA PIK3CB PIK3CD PIK3CG PKM PTGS2 SELE SELL SFTPC SI SLC26A2	1113 1312 152831 1555 1636 175 1836 2219 231 23205 2720 2752 2760 28 2923 32 3290 3291 3383 3938 4051 410 4153 43 4680 4684 5290 5291 5293 5294 5315 5743 6401 6402 6440 6476 847 8809 929	Homo sapiens (human)
DOID:9839	accommodative esotropia	ELOVL6	79071	Homo sapiens (human)
DOID:0111350	Laurin-Sandrow syndrome Aliases: MIPduplication of fibuland ulna with absence of tibia and radius Sandrow syndrome TMIP miccor hands and feet with nasal defects mirror hands and feets-nasal defects syndrome mirror-image polydactyly tetramelic mirror-image polydactyly	AGXT COL9A2	1298 189	Homo sapiens (human)
DOID:14089	root caries Aliases: Cementum caries Dental caries of root surface	NDUFAB1	4706	Homo sapiens (human)
DOID:3315	lipoma Aliases: Lipomatous neoplasm Lipomatous tumor benign lipomatous tumor benign tumor of Adipose tissue tumor of adipose tissue	ACAN ALPP AMACR ATRNL1 BAAT CPM DCN PIK3CA PTEN PYGM SDHB SDHC SDHD SIRT6 SMUG1	1368 1634 176 23583 23600 250 26033 51548 5290 570 5728 5837 6390 6391 6392	Homo sapiens (human)
DOID:10595	Charcot-Marie-Tooth disease Aliases: CMT - Charcot-Marie-Tooth disease	ACE AMACR ARSA CANX CAT CD44 CYP4F3 DGAT2 FIG4 GBA1 GPX2 HADHB HK1 HPSE LCAT LPIN1 MAG MTM1 MTMR1 MTMR2 MTMR3 MTMR4 MTMR6 MTMR7 MTMR8 PGK1 PGM1 PLCB4 PLCE1 PRNP PRPS1 PTGS2 SGPL1 SIGLEC7 SPTLC1 SPTLC2	10558 10855 1636 23175 23600 2629 27036 2877 3032 3098 3931 4051 4099 410 4534 51196 5230 5236 5332 55613 5621 5631 5743 821 84649 847 8776 8879 8897 8898 9107 9108 9110 9517 960 9896	Homo sapiens (human)
DOID:0111391	mucopolysaccharidosis IVA Aliases: GALNS deficiency MPS IVA MPS4A Morquio A disease Morquio syndrome A	APRT ARSB GALNS GLB1 IDS IDUA NAGLU ST3GAL1 ST3GAL2 ST3GAL4 SUMF1	2588 2720 285362 3423 3425 353 411 4669 6482 6483 6484	Homo sapiens (human)
DOID:8946	severe nonproliferative diabetic retinopathy Aliases: High risk non proliferative diabetic retinopathy Severe NPDR	DPEP1	1800	Homo sapiens (human)
DOID:6458	cerebellar liponeurocytoma Aliases: Lipomatous Medulloblastoma	IDH1	3417	Homo sapiens (human)
DOID:0110456	dilated cardiomyopathy 1R Aliases: CMD1R	ACADVL ACE BDH1 CHKB CPT2 DAG1 DOLK FASN FKRP FKTN GLB1 GPX1 HACD1 HADH HADHA HADHB HJV HMGCL HPRT1 LDHA LGALS3 LPL MDH1 MICA MTM1 NAMPT NCAM1 NDUFAB1 PCYT1A PGM1 PIK3CA PIK3CB PIK3CD PIK3CG PLA2G7 POMT2 RENBP SDHA SDHD SLC2A10 SLC2A4	100507436 10135 1120 1376 148738 1605 1636 2194 2218 22845 2720 2876 29954 3030 3032 3033 3155 3251 37 3939 3958 4023 4190 4534 4684 4706 5130 5236 5290 5291 5293 5294 5973 622 6389 6392 6517 79147 7941 81031 9200	Homo sapiens (human)
DOID:2754	glycogen storage disease VI Aliases: Glycogen storage disease 6 Hers' disease glycogen storage disease type VI hepatic glycogen phosphorylase deficiency hepatophosphorylase deficiency glycogenosis	APRT ENO2 G6PC1 GAA GBE1 IMPA1 PFKM PYGL PYGM	2026 2538 2548 2632 353 3612 5213 5836 5837	Homo sapiens (human)
DOID:0060193	amyotrophic lateral sclerosis type 1 Aliases: ALS1 amyotrophic lateral sclerosis 1	ACACA ACHE ALG1 ALPI ALPP APRT ASAH1 CAT CHI3L1 CLEC10A CNTN4 CYP27A1 FCN2 FIG4 GFRA1 GPX1 HEXB HK2 INPP4B MASP1 NT5E OGA OPCML OTOG PNPLA6 RTN4R SARM1 SLC17A5 SLC33A1 TIGAR TMED9	10462 10724 10908 1116 152330 1593 2220 23098 248 250 26503 2674 2876 3074 3099 31 340990 353 427 43 4907 4978 54732 56052 5648 57103 65078 847 8821 9197 9896	Homo sapiens (human)
DOID:5845	anterolateral myocardial infarction	ACE CAT LGALS3 SLC2A4	1636 3958 6517 847	Homo sapiens (human)
DOID:0110814	hereditary spastic paraplegia 63 Aliases: SPG63 autosomal recessive spastic paraplegia 63 spastic paraplegia 63	B4GALNT1 CYP2B6 CYP2U1 CYP39A1 CYP7B1 FAR1 GBA2 L1CAM MAG PCYT2 PLA2G6 PNPLA6 SELENOI SLC33A1 ST3GAL5	10908 113612 1555 2583 3897 4099 51302 57704 5833 8398 84188 85465 8869 9197 9420	Homo sapiens (human)
DOID:0050879	fragile X-associated tremor/ataxia syndrome Aliases: FXTAS syndrome	IGF2R PLA2G2A PLB1	151056 3482 5320	Homo sapiens (human)
DOID:0080055	achondrogenesis type IB Aliases: achondrogenesis Fraccaro type	DCN SLC26A2	1634 1836	Homo sapiens (human)
DOID:3951	acute myocarditis	LGALS3 LGALS9 PRKAA2 PTGS2 SMUG1 SULT1E1	23583 3958 3965 5563 5743 6783	Homo sapiens (human)
DOID:0060465	fibrochondrogenesis	SLC35D1	23169	Homo sapiens (human)
DOID:1827	idiopathic generalized epilepsy Aliases: Generalised epilepsy	ALDH5A1 ASAH1 CACNA2D2 GAD2 GLDC GMPPB MCAT ME2 NPL SLC2A3	2572 2731 27349 29925 4200 427 6515 7915 80896 9254	Homo sapiens (human)
DOID:11161	neonatal respiratory failure Aliases: respiratory failure of newborn	SFTPC	6440	Homo sapiens (human)
DOID:3953	adrenal gland cancer Aliases: adrenal cancer adrenal neoplasm malignant Adrenal tumor malignant neoplasm of adrenal gland neoplasm of adrenal gland tumor of the Adrenal gland	ACACA ACE ACO1 APRT CAT CD44 CHGA CHST3 CNTN4 COMT CS CYP11B1 CYP11B2 CYP17A1 CYP19A1 CYP21A2 CYP4F3 DGCR2 DHCR24 DHRS11 DLST FH G6PD GUSB HPSE HSD11B1 HSD17B7 IDH1 IDH2 L1CAM LGALS3 MDH2 PARP1 PIK3CA PIK3CB PIK3CD PIK3CG PKD2 PTEN PTGS2 SDHA SDHB SDHC SDHD SLC33A1 SMPD1 SMUG1 SORD	10855 1113 1312 142 1431 152330 1584 1585 1586 1588 1589 1636 1718 1743 2271 23583 2539 2990 31 3290 3417 3418 353 3897 3958 4051 4191 48 51478 5290 5291 5293 5294 5311 5728 5743 6389 6390 6391 6392 6609 6652 79154 847 9197 9469 960 9993	Homo sapiens (human)
DOID:0070256	congenital disorder of glycosylation type IId Aliases: CDG IId CDG2D CDGIId	B4GALT1 B4GALT7	11285 2683	Homo sapiens (human)

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