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 **351 - 375** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism
DOID:0060587	Noonan syndrome 9 Aliases: NS9	ACADS AMT ARSA ARSD B4GALT7 BAAT CAT CHPT1 CYP11A1 DAG1 DCN DHDDS FOLR1 GALNT14 GAPDH GCSH GLB1 GLDC GPI HSPG2 KL OGG1 PARP1 PGAM2 PIK3CA PIK3CB PIK3CD PIK3CG PRNP PTEN SGPL1 SMC3 STS TNKS XYLT2	11285 142 1583 1605 1634 2348 2597 2653 2720 2731 275 2821 3339 35 410 412 414 4968 5224 5290 5291 5293 5294 5621 56994 570 5728 64132 79623 79947 847 8658 8879 9126 9365	Homo sapiens (human)
DOID:0050432	Asperger syndrome	ARSD SLC25A12	414 8604	Homo sapiens (human)
DOID:0050650	familial atrial fibrillation Aliases: ATFB	KCNQ1	3784	Homo sapiens (human)
DOID:1924	hypogonadism	Lep	25608	Rattus norvegicus (Norway rat)
DOID:811	lipodystrophy	AGL AGPAT1 AGPAT2 APRT ATP6V0A2 ATP6V1A B4GALT7 CD38 DDOST DOLK FKTN FUCA1 GPC3 LPIN1 LPIN2 LPL PARP2 PCK1 PCYT1A PIK3CA PIK3CB PIK3CD PIK3CG PMM2 PNPLA2 SCD SDHA SMUG1 XYLT2	10038 10554 10555 11285 1650 178 2218 22845 23175 23545 23583 2517 2719 353 4023 5105 5130 523 5290 5291 5293 5294 5373 57104 6319 6389 64132 952 9663	Homo sapiens (human)
DOID:9261	nasopharynx carcinoma Aliases: Nasopharyngeal carcinoma malignant Nasopharyngeal tumor malignant neoplasm of nasopharynx nasopharynx cancer	Calr	41166	Drosophila melanogaster (fruit fly)
DOID:83	cataract	Akr1b1 G6pd Gclc Gcnt2 Ogg1 Sord	24192 24377 24788 25283 306860 81528	Rattus norvegicus (Norway rat)
DOID:0110578	autosomal dominant nonsyndromic deafness 52 Aliases: DFNA52 autosomal dominant deafness 52	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:3133	acute porphyria Aliases: hepatic porphyria	CYP2B6	1555	Homo sapiens (human)
DOID:5644	tricuspid valve prolapse	PLD1	5337	Homo sapiens (human)
DOID:0060427	chromosome Xp21 deletion syndrome Aliases: Xp21 microdeletion syndrome complex glycerol kinase deficiency monosomy Xp21	GK IL1RAPL1	11141 2710	Homo sapiens (human)
DOID:12053	cryptococcosis Aliases: Busse-Buschke's disease European cryptococcosis cryptococcal infection torula torulosis	Chia1	81600	Mus musculus (house mouse)
DOID:0050877	pancreatic agenesis Aliases: Agenesis of the dorsal pancreas partial pancreatic agenesis	Pdx1	29535	Rattus norvegicus (Norway rat)
DOID:0080575	Larsen-like syndrome B3GAT3 type Aliases: Larsen-like syndrome, B3GAT3 type multiple joint dislocations-short stature-craniofacial dysmorphism-congenital heart defects syndrome	B3gat3	293722	Rattus norvegicus (Norway rat)
DOID:0110218	Brugada syndrome 1 Aliases: BRGDA1	APRT CACNA2D1 GPD1L IDS SCD	23171 3423 353 6319 781	Homo sapiens (human)
DOID:1679	cystitis	CAT IMPA1 MBL2 NAGLU OGA PIK3CA PIK3CB PIK3CD PIK3CG PRKAA2 PTGS2 TNF	10724 3612 4153 4669 5290 5291 5293 5294 5563 5743 7124 847	Homo sapiens (human)
DOID:11266	Hantavirus hemorrhagic fever with renal syndrome Aliases: HFRS Hemorrhagic fever, Russian Hemorrhagic nephrosonephritis Puumala virus nephropathy	BAAT CAT CHI3L1 ICAM2 IL1R1 IL1RL1 LGALS3 MBD4 MRC1 MUTYH NAAA PTGS1 PTGS2 SLC35D3 TM7SF2 VCAM1	1116 27163 3384 340146 3554 3958 4360 4595 570 5742 5743 7108 7412 847 8930 9173	Homo sapiens (human)
DOID:0090072	hypogonadotropic hypogonadism 12 with or without anosmia Aliases: familial hypogonadotrophic eunuchoidism familial idiopathic gonadotrpin deficiency	ACSM3 ADH5 CD44 CD55 CYP17A1 CYP19A1 GAS1 GK GPC1 HJV HS6ST1 HSD17B3 L1CAM MMUT NT5E PMM2 PNPLA6 SEMA7A SMPD3 SOAT1 STS TYMP	10908 128 148738 1586 1588 1604 1890 2619 2710 2817 3293 3897 412 4594 4907 5373 55512 6296 6646 8482 9394 960	Homo sapiens (human)
DOID:10970	spastic quadriplegic cerebral palsy Aliases: inherited congenital spastic quadriplegia inherited congenital spastic tetraplegia quadriplegic infantile cerebral palsy spastic quadriplegia tetraplegic infantile cerebral palsy	ACHE ACSM1 ACSM2A ALDH3A2 ALPP ARSA ARSD ATRNL1 CAT CD109 CYP24A1 CYP3A4 EFNA5 GAD1 GCDH GLUL GMDS GPX1 HPRT1 IDH1 IDH2 IDUA MBL2 MECR MRC1 PDHA1 PIK3CA PIK3CB PIK3CD PIK3CG PMM2 PNP PTGS1 PTGS2 RENBP SOAT1 ST3GAL5 TIGAR TKTL1 UGT1A1	116285 123876 135228 1576 1591 1946 224 250 2571 26033 2639 2752 2762 2876 3251 3417 3418 3425 410 414 4153 43 4360 4860 51102 5160 5290 5291 5293 5294 5373 54658 57103 5742 5743 5973 6646 8277 847 8869	Homo sapiens (human)
DOID:936	brain disease Aliases: encephalopathy	ENO1 ENO2	853169 856579	Saccharomyces cerevisiae S288C
DOID:0050628	advanced sleep phase syndrome Aliases: familial advanced sleep-phase syndrome	PER2	8864	Homo sapiens (human)
DOID:0110066	amelogenesis imperfecta type 1G Aliases: AI1G AIGFS ERS amelogenesis imperfecta and gingival fibromatosis syndrome amelogenesis imperfecta hypoplastic with nephrocalcinosis amelogenesis imperfecta type IG enamel-renal syndrome enamel-renal-gingival syndrome	AKR1C1 AKR1C2 CACNA2D1 MMP25 TMEM165	1645 1646 55858 64386 781	Homo sapiens (human)
DOID:3008	invasive ductal carcinoma Aliases: Infiltrating ductal carcinoma of breast Invasive ductal carcinoma, NST ductal adenocarcinoma	ABO ADH4 AKT1 ALDOA ASAH1 ATP6AP2 CD14 CD44 CHI3L1 CTSA CYP19A1 DCN DHCR24 DHRS11 DPEP1 ENO1 FUT3 GAL3ST1 GPX3 HMMR HPGDS HPSE HSD17B12 HSD17B1 HSD17B7 IDH1 KL KLB LGALS1 LGALS3 MCAT MGAT5 MGLL NAMPT NEU1 PCNA PDIA3 PFKFB4 PIK3CA PIK3CB PIK3CD PIK3CG PIP5K1C PLCB2 POFUT1 PRKAA2 PSMD10 PTEN PTGS2 RGN SDC1 SELE SLC35B2 SMUG1 ST8SIA1 SULF2 UGCG VTCN1	10135 10159 10855 1116 11343 127 152831 1588 1634 1718 1800 2023 207 226 23396 23509 23583 2525 27306 27349 28 2878 2923 3161 3292 3417 347734 3956 3958 4249 427 4758 5111 51144 51478 5210 5290 5291 5293 5294 5330 5476 5563 55959 5716 5728 5743 6382 6401 6489 7357 79154 79679 9104 929 9365 9514 960	Homo sapiens (human)
DOID:11702	dysgammaglobulinemia	UNG1	854987	Saccharomyces cerevisiae S288C
DOID:0112381	muscular dystrophy-dystroglycanopathy type C12 Aliases: LGMD due to POMK deficiency Limb-girdle muscular dystrophy due to POMK deficiency MDDGC12 muscular dystrophy-dystroglycanopathy, limb-girdle, POMK-related	Pomk	306549	Rattus norvegicus (Norway rat)

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