GlyCosmos Portal

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

Displaying entries **4651 - 4675** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism
DOID:0080558	congenital disorder of glycosylation If Aliases: congenital disorder of glycosylation 1f	CG3792	33717	Drosophila melanogaster (fruit fly)
DOID:0080094	myofibrillar myopathy 3 Aliases: LGMD 1A autosomal dominant limb-girdle muscular dystrophy type 1A myotilinopathy spheroid body myopathy	ACE ACHE AGL APRT B3GALNT2 B4GALNT2 B4GAT1 CHKA CHKB CRPPA DAG1 DCN DPEP1 DPM1 DPM2 DPM3 ENO1 FKRP FKTN GK GLB1 GMPPB HPGDS IDH2 IMPA1 INPP5B INPP5K LARGE1 LARGE2 LGALS3 MBL2 MGAM PARP1 PIK3C2A PMM2 POGLUT1 POMGNT1 POMGNT2 POMK POMT1 POMT2 PRG2 RXYLT1 SDC2 SI SYNJ1 SYNJ2	10329 10585 11041 1119 1120 120071 124872 142 148789 1605 1634 1636 178 1800 2023 2218 2710 2720 27306 29925 29954 3418 353 3612 3633 3958 4153 43 51763 5286 5373 54344 5553 55624 56983 6383 6476 729920 79147 84197 84892 8813 8818 8867 8871 8972 9215	Homo sapiens (human)
DOID:13014	shipyard eye Aliases: EKC Epidemic keratoconjunctivitis	PLD3	23646	Homo sapiens (human)
DOID:0111277	mitochondrial trifunctional protein deficiency Aliases: MTPD TFP deficiency TFPD	ACADVL CPT1A CPT2 DHDDS EHHADH GBE1 HADH HADHA HADHB PTEN	1374 1376 1962 2632 3030 3032 3033 37 5728 79947	Homo sapiens (human)
DOID:0050441	mucosulfatidosis Aliases: Sulfatidosis, Juvenile, Austin Type multiple sulfatase deficiency disease	ARSA ARSH CAT SGSH STS SUMF1	285362 347527 410 412 6448 847	Homo sapiens (human)
DOID:0111630	familial erythrocytosis 8 Aliases: BPGM deficiency DPGM deficiency ECYT8 bisphosphoglycerate mutase deficiency bisphosphoglyceromutase deficiency diphosphoglycerate mutase deficiency of erythrocyte hemolytic anemia due to diphosphoglycerate mutase deficiency	GPM1	853705	Saccharomyces cerevisiae S288C
DOID:9893	periodontosis	ALOX5 CD14 CYP1A1 DGKA FCGR3B GLT6D1 IL1R1 MBL2 MMP25 PAFAH1B1 PTGS2 SELE SIGLEC5 SMPD3 VCAM1	1543 1606 2215 240 3554 360203 4153 5048 55512 5743 6401 64386 7412 8778 929	Homo sapiens (human)
DOID:0111843	Paganini-Miozzo syndrome Aliases: MRXSPM	Hs6st2	302489	Rattus norvegicus (Norway rat)
DOID:0080197	congenital muscular dystrophy with cataracts and intellectual disability	INPP5K	51763	Homo sapiens (human)
DOID:12705	Friedreich ataxia Aliases: Friedreich's ataxia Friedreich's tabes	ACO2 CAT COG5 DLD GAA GPAA1 GPX1 HPGDS HSD17B4 ICAM1 LPL PIP5K1B PRKAA2 PRNP PTGS2 VCAM1	10466 1738 2548 27306 2876 3295 3383 4023 50 5563 5621 5743 7412 8395 847 8733	Homo sapiens (human)
DOID:0060790	hypomyelinating leukodystrophy 3 Aliases: HLD3 Pelizaeus-Merzbacher-like disease due to AIMP1 mutation	GBA1	2629	Homo sapiens (human)
DOID:14464	neuroleptic malignant syndrome	CPT2 PIK3C2A RENBP	1376 5286 5973	Homo sapiens (human)
DOID:0110658	congenital myasthenic syndrome 15 Aliases: CMS15 congenital myasthenic syndrome 15 without tubular aggregates	algn-14	187398	Caenorhabditis elegans
DOID:676	juvenile rheumatoid arthritis Aliases: Pauciarticular onset juvenile chronic arthritis Still's disease acute juvenile rheumatoid arthritis juvenile chronic polyarthritis juvenile idiopathic arthritis monarticular juvenile rheumatoid arthritis pauciarticular juvenile arthritis systemic juvenile rheumatoid arthritis	ACACA ACAN ALOX12 CAT CD14 CHIT1 CLEC16A COG6 DAG1 FCN2 FUT2 HYAL1 ICAM1 LACC1 LYZ MBL2 NAMPT NCAM1 OLR1 PCYT1B PLAUR PRNP SELP SLC26A2 SLC2A3 TNFRSF10C VTCN1	10135 1118 144811 1605 176 1836 2220 23274 239 2524 31 3373 3383 4069 4153 4684 4973 5329 5621 57511 6403 6515 79679 847 8794 929 9468	Homo sapiens (human)
DOID:0080567	congenital disorder of glycosylation Ip Aliases: congenital disorder of glycosylation 1p	ALG11	440138	Homo sapiens (human)
DOID:0110447	dilated cardiomyopathy 1DD Aliases: CMD1DD	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:5016	hepatocellular clear cell carcinoma Aliases: Clear cell carcinoma of the Liver cells Hepatocellular carcinoma, clear cell type	IDH1 IDH2 LEP LEPR	3417 3418 3952 3953	Homo sapiens (human)
DOID:731	urinary system benign neoplasm Aliases: neoplasm of urinary system tumor of the urinary system tumor of urinary tract urinary tract neoplasm	ACE ACSS2 CEACAM5 CEACAM7 COMT OGG1 PIK3CA PLA2G15	1048 1087 1312 1636 23659 4968 5290 55902	Homo sapiens (human)
DOID:0060284	paroxysmal nocturnal hemoglobinuria	piga-1	174386	Caenorhabditis elegans
DOID:0080176	meningococcal meningitis	Tlr4	29260	Rattus norvegicus (Norway rat)
DOID:0110148	Charcot-Marie-Tooth disease type 1A Aliases: CMT1A Charcot-Marie-Tooth neuropathy type 1A HMSN1A autosomal dominant Charcot-Marie-Tooth disease with focally folded myelin sheaths type 1A hereditary motor and sensory neuropathy 1A microduplication 17p12	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)
DOID:10762	portal hypertension	Nr1d1 Pik3r1 Tnf	18708 217166 21926	Mus musculus (house mouse)
DOID:0060359	Sakati-Nyhan syndrome Aliases: ACPS with leg hypoplasia Sakati syndrome Sakati-Nyhan-Tisdale syndrome acrocephalopolysyndactyly Type III acrocephalopolysyndactyly type 3	AKR1C4 CNTN3 COG1 CYP2B6 DGCR2 FREM1 G6PD GAS1 GYS2 LSS NT5E SLC26A2	1109 1555 158326 1836 2539 2619 2998 4047 4907 5067 9382 9993	Homo sapiens (human)
DOID:9521	Laron syndrome Aliases: Laron-type isolated somatotropin defect	ACAN ACER3 AGA AGL ALDH3A2 ALDOA ALOX12B ALPL ALPP ARSB ASAH1 ATP6V0A2 ATP6V1A ATRNL1 B3GALT6 B3GAT3 B4GALT7 CD38 CERS3 CHST3 CHSY1 COG4 COG5 COG7 COL9A2 COLEC10 COMT CRYL1 CSGALNACT1 CTNS CTSA CYP11B1 CYP17A1 CYP19A1 CYP27B1 CYP2B6 CYP2C19 CYP2C9 CYP2R1 DDOST DGCR2 DHCR24 DHCR7 DHDDS EBP EHHADH ENPP1 EXT1 EXT2 FIG4 FUCA1 FUT8 G6PC1 GALNS GAPDH GAS1 GBA1 GCK GFPT1 GK GLA GLB1 GM2A GMPPA GNPTAB GNPTG GPC3 GPD1 GUSB GYS2 H6PD HACD1 HPRT1 HSD11B2 HSD17B4 HSPG2 HYAL1 IDH1 IDH2 IDS IDUA INPP5K INPPL1 KDSR L1CAM LARGE1 LFNG MGAT2 MLYCD MSMO1 NEU1 OCRL OGDH PAPSS2 PCCA PCCB PCYT1A PGAP1 PGM1 PGM3 PIK3C2A PIK3CA PNPLA2 PNPLA6 PRPS1 PTDSS1 PTEN PYGL RFT1 SDHA SDHB SDHC SDHD SIRT6 SLC26A2 SLC2A2 SLC35A2 SLC35C1 SLC35G1 SLC37A4 SLC39A8 SMC3 SMPD1 SMPD3 SOAT1 STS SUCLA2 SULT1E1 SULT2B1 SUMF1 SYNJ1 TGDS TMEM165 UGDH VCAM1 XYLT1	10466 10584 10682 10908 11285 120227 126792 1298 1312 1497 1555 1557 1559 1584 1586 1588 159371 1594 1650 1717 1718 175 176 178 1836 1962 204219 2131 2132 224 226 22856 23417 23483 23545 242 249 250 2517 2530 2531 2538 2542 25839 2588 2597 26033 2619 26229 2629 2645 2673 2710 2717 2719 2720 2760 2819 285362 2990 29926 2998 3251 3291 3295 3339 3373 3417 3418 3423 3425 3636 3897 3955 411 412 4247 427 4758 4952 4967 5095 5096 51084 5130 51548 5167 51763 523 5236 5238 5286 5290 5476 55331 55343 55512 55790 55858 5631 57104 5728 5836 6307 6389 6390 6391 6392 64116 64131 6514 6609 6646 6783 6820 7355 7358 7412 79158 79947 80055 84572 8803 8867 9060 9126 91869 91949 9200 9215 9469 952 9563 9791 9896 9993	Homo sapiens (human)
DOID:1798	pancreatic endocrine carcinoma Aliases: Islet cell carcinoma carcinoma of endocrine pancreas malignant neoplasm of islets of Langerhans pancreatic neuroendocrine carcinoma	Pgf	94203	Rattus norvegicus (Norway rat)

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