GlyCosmos Portal

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

Displaying entries **6226 - 6250** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism
DOID:2978	carbohydrate metabolic disorder Aliases: disorder of carbohydrate transport and metabolism inborn carbohydrate metabolism disorder inborn errors of carbohydrate metabolism	tpi1	100038162	Xenopus tropicalis (tropical clawed frog)
DOID:0110542	autosomal dominant nonsyndromic deafness 10 Aliases: DFNA10 autosomal dominant deafness 10	ACO2 ACOX1 ARSA CD109 CHSY1 COG4 LRTOMT OTOA OTOG PSAP TECTA	135228 146183 220074 22856 25839 340990 410 50 51 5660 7007	Homo sapiens (human)
DOID:14498	lipoid proteinosis Aliases: Lipid proteinosis URBACH-WIETHE DISEASE	SFTPC	6440	Homo sapiens (human)
DOID:0060713	autosomal recessive congenital ichthyosis 4B Aliases: ARCI4B harlequin ichthyosis harlequin type ichthyosis congenita harlequin type ichthyosis fetalis	piga	100158632	Xenopus tropicalis (tropical clawed frog)
DOID:5614	eye disease	Tl	43222	Drosophila melanogaster (fruit fly)
DOID:0050575	D-2-hydroxyglutaric aciduria	Idh1	24479	Rattus norvegicus (Norway rat)
DOID:4948	gallbladder carcinoma Aliases: cancer of the gallbladder carcinoma gallbladder carcinoma of gallbladder	Abo Tymp	72962 80908	Mus musculus (house mouse)
DOID:9282	ocular hypertension	Tpi1	21991	Mus musculus (house mouse)
DOID:0110640	congenital muscular dystrophy due to LMNA mutation Aliases: L-CMD LMNA-related congenital muscular dystrophy congenital muscular dystrophy LMNA-related	ACACA ACHE ALDH2 B4GAT1 CD38 CHKB CNTN1 FKRP FKTN GBE1 HACD1 HK1 LARGE1 MTM1 MTMR14 POMGNT1 POMT1 PRKAA2	10585 11041 1120 1272 217 2218 2632 3098 31 43 4534 55624 5563 64419 79147 9200 9215 952	Homo sapiens (human)
DOID:0090075	hypogonadotropic hypogonadism 15 with or without anosmia	Hs6st1	316325	Rattus norvegicus (Norway rat)
DOID:4090	agnosia Aliases: Dyspraxia Dyspraxia syndrome	ACADSB ACAT1 ACE AGK AGRN ALDH2 ALDH5A1 ALG13 ALG14 ALG2 ARSA ASAH1 ATP6AP2 ATP6V0A2 ATP6V1A B3GALNT2 B3GAT1 CACNA2D2 CAT CHAT CHI3L1 CHKB CHST14 CHST3 CLN5 COG4 COG5 COMT CRPPA CYP19A1 CYP27B1 CYP2B6 CYP2C9 CYP2R1 CYP2U1 CYP3A4 CYP3A5 DAG1 DGKK DPAGT1 EPM2A EXT2 EXTL3 FASN FCGR3B FKRP FKTN GAD2 GALT GBA1 GCK GFPT1 GMDS GMPPB GPAA1 GPX1 GPX3 HACD1 HADH HADHA HADHB HGSNAT HIBCH HPRT1 INPP5K LARGE1 LGALS1 LMAN2L MAN1B1 MBOAT7 MDH2 MGLL MTMR14 MTMR2 NDST1 PGAP1 PIGC PIK3CA PLA2G6 PLCB4 PNP PNPLA2 POMGNT1 POMK POMT1 POMT2 PRNP PRPS1 PSAP PTEN PTGS2 RPIA SDHA SDHB SDHD SLC35G1 SRD5A3 ST3GAL3 ST3GAL5 TECR TUSC3 UGT2B7	10159 10466 10585 1103 1116 1120 11253 113189 11343 113612 120227 1203 1312 138050 139189 148789 1555 1559 1576 1577 1588 159371 1594 1605 1636 1798 199857 2132 2137 217 2194 2215 2218 22934 23545 2572 25839 2592 26275 2629 2645 2673 27087 2762 2876 2878 29925 29954 3030 3032 3033 3251 3340 36 375790 38 3956 410 4191 427 4860 51763 523 5279 5290 5332 55624 55750 5621 5631 5660 57104 5728 5743 6389 6390 6392 64419 6487 729920 7364 79143 79147 7915 7957 79644 79868 7991 80055 81562 8398 84197 847 85365 8733 8869 8898 9200 9215 9254 9469 9524	Homo sapiens (human)
DOID:0060730	torsion dystonia 1 Aliases: dystonia musculorum deformans	ALDH5A1	7915	Homo sapiens (human)
DOID:0080718	GNE myopathy Aliases: Distal myopathy, Nonaka type Hereditary Inclusion Body Myopathy Nonaka myopathy inclusion body myopathy 2	GNE	10020	Homo sapiens (human)
DOID:3651	pyruvate carboxylase deficiency disease Aliases: deficiency of pyruvic carboxylase	Pc	25104	Rattus norvegicus (Norway rat)
DOID:1588	thrombocytopenia	Gale Tnf	21926 74246	Mus musculus (house mouse)
DOID:5614	eye disease	Tlr4 Tnf	24835 29260	Rattus norvegicus (Norway rat)
DOID:0070146	hereditary sensory neuropathy type 4 Aliases: hereditary sensory neuropathy type IV insensitivity to pain, congenital, with anhidrosis	PKLR SPTLC1	10558 5313	Homo sapiens (human)
DOID:5603	T-cell acute lymphoblastic leukemia Aliases: Precursor T Lymphoblastic Leukemia T Acute Lymphoblastic Leukemia T-cell acute lymphocytic leukaemia T-cell leukemia T-cell lymphoblastic leukemia/lymphoma acute T cell leukemia precursor T-lymphoblastic lymphoma/leukemia	ABO ACE AKR1C1 AKR1C3 APRT ARSA CALR CAT CD14 CD22 CD33 CD38 CD44 CD55 CERS6 CHKA CNTN2 CRYL1 CYP1A1 CYP2B6 CYP3A4 CYP3A5 ENO2 FCER2 FCGR3B FUT1 FUT4 HACD1 HPGDS HPRT1 HPSE2 HSD17B1 ICAM1 IDH1 IDH2 IDUA IL18R1 INPP5D LCT LGALS1 LGALS3 LGALS9 MRC1 MTAP NAAA NAMPT NCAM1 OGG1 PARP1 PIGL PIK3CA PIK3CB PIK3CD PIK3CG PLA2R1 PLCG1 POGLUT1 PRKAA2 PSMD10 PTEN PTGES RENBP SACM1L SCD5 SELE SELL SIGLEC7 SMUG1 SOAT1 ST6GAL1 STS TALDO1 TIGAR TMED5 TMED9 UNG VCAM1 VCAN XYLT2	10135 1119 142 1462 1543 1555 1576 1577 1604 1636 1645 2026 2208 2215 22908 22925 23583 2523 2526 253782 27036 27163 27306 28 3251 3292 3383 3417 3418 3425 353 3635 3938 3956 3958 3965 410 412 4360 4507 4684 4968 50999 51084 5290 5291 5293 5294 5335 54732 5563 56983 57103 5716 5728 5973 60495 6401 6402 64132 6480 6646 6888 6900 7374 7412 79966 811 847 8644 8809 9200 929 933 945 9487 952 9536 960	Homo sapiens (human)
DOID:0050161	lower respiratory tract disease	PGRP-LC PGRP-LE	32534 39063	Drosophila melanogaster (fruit fly)
DOID:114	heart disease	PGI1	852495	Saccharomyces cerevisiae S288C
DOID:0110859	polycystic kidney disease 2 Aliases: Apkd2 Pkd2 Polycystic Kidney Disease, Adult, Type II	GANAB PKD1 PKD2	23193 5310 5311	Homo sapiens (human)
DOID:3633	beta-mannosidosis Aliases: Beta-D-mannosidosis beta-mannosidase deficiency lysosomal beta-mannosidase deficiency	C33G3.4	181517	Caenorhabditis elegans
DOID:10112	sleeping sickness Aliases: African sleeping sickness African trypanosomiasis	PIG-B	38446	Drosophila melanogaster (fruit fly)
DOID:0090048	dystonia 16	ALDH5A1 PLA2G6	7915 8398	Homo sapiens (human)
DOID:0110202	Charcot-Marie-Tooth disease dominant intermediate A Aliases: CMTDIA Charcot-Marie-Tooth neuropathy dominant intermediate A DI-CMTA autosomal dominant intermediate Charcot-Marie-Tooth disease type A	ACE AMACR ARSA CANX CAT CD44 CYP4F3 DGAT2 FIG4 GBA1 GPX2 HADHB HK1 HPSE LCAT LPIN1 MAG MTM1 MTMR2 PGK1 PGM1 PLCB4 PLCE1 PRNP PRPS1 PTGS2 SIGLEC7 SPTLC1 SPTLC2	10558 10855 1636 23175 23600 2629 27036 2877 3032 3098 3931 4051 4099 410 4534 51196 5230 5236 5332 5621 5631 5743 821 84649 847 8898 9517 960 9896	Homo sapiens (human)

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