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 **6576 - 6600** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism
DOID:0110294	autosomal recessive limb-girdle muscular dystrophy type 2T Aliases: LGMD2T MDDGC14 muscular dystrophy limb-girdle type 2T muscular dystrophy-dystroglycanopathy (limb-girdle) type C14 muscular dystrophy-dystroglycanopathy limb-girdle GMPPB-related	Gmppb	40599	Drosophila melanogaster (fruit fly)
DOID:0111459	classic galactosemia Aliases: GALT deficiency galactose-1-phosphate uridyltransferase deficiency galactosemia type 1	Galt	14430	Mus musculus (house mouse)
DOID:11624	penile benign neoplasm Aliases: Penile tumor neoplasm of penis	PIK3CA PIK3CB PIK3CD PIK3CG PTGES SMUG1	23583 5290 5291 5293 5294 9536	Homo sapiens (human)
DOID:12337	varicocele Aliases: Scrotal varices	CAT CHPT1 DHDDS FASN HPGDS LYPD5 MGLL OGG1 PIK3CA PTEN	11343 2194 27306 284348 4968 5290 56994 5728 79947 847	Homo sapiens (human)
DOID:14453	farmer's lung Aliases: Farmers lung farmer lung	Tnf	24835	Rattus norvegicus (Norway rat)
DOID:0110307	hypertrophic cardiomyopathy 1 Aliases: CMH1 cardiomyopathy, familial hypertrophic 1 hypertrophic cardiomyopathy 19	ACE APRT CALR3 GLA GNS HGSNAT ICAM1 NAGLU PKD1 PNPLA3 PRKAA2 SGSH	125972 138050 1636 2717 2799 3383 353 4669 5310 5563 6448 80339	Homo sapiens (human)
DOID:0070285	primary autosomal recessive microcephaly 1 Aliases: MCPH1	SDHB SDHD	6390 6392	Homo sapiens (human)
DOID:10591	pre-eclampsia Aliases: gestational hypertension hypertension induced by pregnancy pre-eclamptic toxaemia preeclampsia preeclampsia/eclampsia pregnancy associated hypertension pregnancy toxemia proteinuric hypertension of pregnancy toxaemia of pregnancy	Chi3l1 Comt Lep Lepr Ogg1 Pgf Rbp4 Tlr4 Tnf	12654 12846 16846 16847 18294 18654 19662 21898 21926	Mus musculus (house mouse)
DOID:13948	bladder neck obstruction Aliases: Obstruction of bladder neck or vesicourethral orifice	Htr2a	15558	Mus musculus (house mouse)
DOID:0111416	trichohepatoenteric syndrome 2 Aliases: THES2	CYP21A2	1589	Homo sapiens (human)
DOID:1520	colon carcinoma Aliases: Colonic carcinoma carcinoma of colon	Braf	109880	Mus musculus (house mouse)
DOID:1036	chronic leukemia	HMMR	3161	Homo sapiens (human)
DOID:10588	adrenoleukodystrophy Aliases: ALD Bronze Schilder disease Encephalitis periaxialis concentrica Encephalitis periaxialis, Schilder's Siemerling-Creutzfeldt Disease X-linked adrenoleukodystrophy diffuse sclerosis sudanophilic cerebral sclerosis	ACE ACHE ACSBG1 ACSBG2 ADH1C ADH5 AKR1A1 AKR1B1 ALDH2 ALDH7A1 APRT ARSB CD14 CD1D CD38 CD44 CH25H CHAT CHI3L1 CHIT1 CHKB CHST3 COLGALT1 COMT CPT1B CYP1A2 CYP21A2 CYP2B6 CYP2C9 CYP2E1 CYP3A4 CYP4F2 DLAT EBP ECHS1 ELOVL1 ELOVL7 EPM2A FUT1 G6PD GAD2 GALNT14 GGT1 GLB1 GLUL GPAT2 GPC5 HADH HADHB HPGDS HS6ST3 HSD11B1 HSD17B4 HSPG2 ICAM1 IDH2 IDS IDUA L1CAM LPIN1 MAG MBL2 MBOAT2 MBOAT7 MDGA2 MGAT1 MGLL NAMPT NCAM1 NCAN NDST3 NYX PARP1 PIK3CA PIK3CB PIK3CD PIK3CG PLA2R1 PLB1 PNPLA3 PRKAA2 PRNP PTEN RTN4R SGSH SIRT6 SLC17A5 SLC27A5 SPHK1 SPHK2 ST8SIA4 SUMF1	10135 10327 10682 10998 1103 1116 1118 1120 11343 126 128 129642 1312 1375 142 1463 150763 151056 1544 1555 1559 1571 1576 1589 161357 1636 1737 1892 217 2262 22925 231 23175 23205 2523 2539 2572 26503 266722 2678 2720 27306 2752 285362 3032 3033 3290 3295 3339 3383 3418 3423 3425 353 3897 4099 411 4153 4245 43 4684 501 51548 5290 5291 5293 5294 5563 5621 56848 5728 60506 6448 64834 65078 7903 79143 7957 79623 79709 79993 80339 81616 8529 8877 9023 912 929 9348 9469 952 960	Homo sapiens (human)
DOID:0060712	autosomal recessive congenital ichthyosis 4A Aliases: ARCI4A ICR2B ichthyosis congenita IIB lamellar ichthyosis 2	ALDH3A2 ALOX12B CERS3 COG7 GBA1 STS SULT2B1	204219 224 242 2629 412 6820 91949	Homo sapiens (human)
DOID:1063	interstitial nephritis Aliases: renal tubulo-interstitial disease	ACE APRT CAT CYP2C9 DCN DHCR7 DPEP1 GLA HSPG2 IL18R1 MMUT PLA2R1 REG3G SDC1 SDC2 SFTPA1 SFTPA2 SFTPD SLC3A1 TM7SF2 UMOD	130120 1559 1634 1636 1717 1800 22925 2717 3339 353 4594 6382 6383 6441 6519 653509 7108 729238 7369 847 8809	Homo sapiens (human)
DOID:8515	Cor pulmonale Aliases: cardiopulmonary disease pulmonary heart disease	Tnf	21926	Mus musculus (house mouse)
DOID:3890	acute intermittent porphyria Aliases: AIP - acute intermittent porphyria Pyrroloporphyria porphyria intermittent acute	ARSA CAT CYP3A5 CYP4F3 DEGS1 DPAGT1 ENO1 SMUG1	1577 1798 2023 23583 4051 410 847 8560	Homo sapiens (human)
DOID:0080005	bone remodeling disease	Idh2	269951	Mus musculus (house mouse)
DOID:3328	temporal lobe epilepsy Aliases: epilepsy, temporal lobe	ACE ACOT7 ENO2 EPHX2 GAD1 GAD2 GLUL ICAM1 MGAT1 MICA NPY1R PLD1 PLD2 PRNP PTGS2 RGMA SC5D SEMA7A SMUG1	100507436 11332 1636 2026 2053 23583 2571 2572 2752 3383 4245 4886 5337 5338 5621 56963 5743 6309 8482	Homo sapiens (human)
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:0050777	Joubert syndrome Aliases: JBTS	ATP6V0A2 ATP6V1A B3GALNT2 B4GAT1 CRPPA DAG1 DHCR24 DLST FIG4 FKRP FKTN GYS2 HSPG2 INPP5B INPP5E LARGE1 NSDHL PAFAH1B1 PIGP PIGQ POMGNT1 POMGNT2 POMK POMT1 POMT2 RXYLT1 SDC2 STS SYNJ1 SYNJ2 TMTC3	10329 10585 11041 148789 160418 1605 1718 1743 2218 23545 29954 2998 3339 3633 412 5048 50814 51227 523 55624 56623 6383 729920 79147 84197 84892 8867 8871 9091 9215 9896	Homo sapiens (human)
DOID:2962	Cockayne syndrome Aliases: Neill-Dingwall syndrome	ACADS AKR1B1 ALDH2 AMT ANXA5 ARSA ARSD B4GALT7 BAAT CAT CD38 CHPT1 COMT CYP11A1 CYP3A5 DAG1 DCN DHDDS FOLR1 GALNT14 GAPDH GCSH GLB1 GLDC GPI HSPG2 KL OGG1 OLR1 PARP1 PCYT1A PGAM2 PIK3CA PIK3CB PIK3CD PIK3CG PKM PRNP PTEN SGPL1 SMC3 STS TNKS XYLT2	11285 1312 142 1577 1583 1605 1634 217 231 2348 2597 2653 2720 2731 275 2821 308 3339 35 410 412 414 4968 4973 5130 5224 5290 5291 5293 5294 5315 5621 56994 570 5728 64132 79623 79947 847 8658 8879 9126 9365 952	Homo sapiens (human)
DOID:519	aortitis	ABO CYP1A1 PCYT1A SMUG1	1543 23583 28 5130	Homo sapiens (human)
DOID:0050731	vitamin B12 deficiency Aliases: cobalamin deficiency hypocobalaminemia	Fut2 Sec1	14344 56546	Mus musculus (house mouse)
DOID:0080855	Parkinsonism	Eno sgg	31248 33351	Drosophila melanogaster (fruit fly)

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