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GlyCosmos Diseases

List of diseases involving glycan related genes. The information of each database of Glyco-Disease Genes Database (GDGDB), DisGeNET, and Alliance of Genome Resources is integrated into one list.

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

Displaying entries **6026 - 6050** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism
DOID:0080325	tuberous sclerosis 2	NTHL1 PKD1 PTEN	4913 5310 5728	Homo sapiens (human)
DOID:10003	sensorineural hearing loss Aliases: High Frequency Hearing Loss High frequency deafness Perceptive deafness Perceptive hearing loss Perceptive hearing loss or deafness Sensorineural Deafness Sensory hearing loss central hearing loss high-frequency hearing loss	Tnf	21926	Mus musculus (house mouse)
DOID:3241	lipid pneumonia Aliases: Exogenous lipoid pneumonia Lipoid pneumonitis	SMUG1	23583	Homo sapiens (human)
DOID:1059	intellectual disability	il1rapl1a il1rapl1b ndst1a ndst1b ndst2a ndst2b ndst3	100317129 100329944 557801 568868 570459 793524 798226	Danio rerio (zebrafish)
DOID:5850	inferior myocardial infarction	SULT1E1	6783	Homo sapiens (human)
DOID:0080176	meningococcal meningitis	MBL2 TLR2 TLR4	4153 7097 7099	Homo sapiens (human)
DOID:3277	thymus cancer Aliases: Thymic tumor neoplasm of thymus thymic neoplasm	LGALS1 PTEN	3956 5728	Homo sapiens (human)
DOID:2877	larynx sarcoma Aliases: sarcoma of larynx	CD38	952	Homo sapiens (human)
DOID:0050144	Kartagener syndrome Aliases: Kartagener's syndrome	INPP5E MBL2 NTM	4153 50863 56623	Homo sapiens (human)
DOID:0070433	hyperphosphatasia with impaired intellectual development syndrome 1 Aliases: GPIBD2 HPMRS1 glycosylphosphatidylinositol biosynthesis defect 2 hyperphosphatasia with mental retardation syndrome 1	pigv	100148642	Danio rerio (zebrafish)
DOID:0060898	Parkinson's disease 20 Aliases: early-onset Parkinson disease 20 early-onset Parkinson's disease 20	SYNJ1	8867	Homo sapiens (human)
DOID:10937	impulse control disorder	APRT COMT PAFAH1B1 PLCD1 PLCG1	1312 353 5048 5333 5335	Homo sapiens (human)
DOID:0110274	autosomal recessive limb-girdle muscular dystrophy	Poglut1 Pomt2	217734 224143	Mus musculus (house mouse)
DOID:0060301	type I complement component 8 deficiency	ACE CALR CD55 FCN3 MASP2	10747 1604 1636 811 8547	Homo sapiens (human)
DOID:0050597	intestinal schistosomiasis Aliases: Katayama fever Schistosoma japonicum infection Schistosoma mansoni infectious disease schistosomiasis japonica	ABO CD38 CD44 COLEC11 FCER2 FCN2 GAPDH HPGDS ICAM1 IL1RL1 LGALS3 LYPD5 MBL2 MICA PC	100507436 2208 2220 2597 27306 28 284348 3383 3958 4153 5091 78989 9173 952 960	Homo sapiens (human)
DOID:0050884	triosephosphate isomerase deficiency Aliases: Triose phosphate-isomerase deficiency	tpi1.S	380168	Xenopus laevis (African clawed frog)
DOID:4866	salivary gland adenoid cystic carcinoma Aliases: Cylindroma	ACACA ACACB CD44 CNTN6 GPC3 HSPG2 ICAM5 IDH1 ISYNA1 LGALS3 LYZ NCAM1 PIK3CA PIK3CB PIK3CD PIK3CG PTEN PTGS2 PYGB RECK SDC1 SMUG1 ST3GAL4 VCAN	1462 23583 2719 27255 31 32 3339 3417 3958 4069 4684 51477 5290 5291 5293 5294 5728 5743 5834 6382 6484 7087 8434 960	Homo sapiens (human)
DOID:10611	protein-losing enteropathy Aliases: Enteropathy, exudative Exudative enteropathy	ALG8 CD55 COG8 DGAT1 MPI PIK3C2A PTEN	1604 4351 5286 5728 79053 84342 8694	Homo sapiens (human)
DOID:0080738	Ehlers-Danlos syndrome spondylodysplastic type 1	B4GALT7	11285	Homo sapiens (human)
DOID:0110583	autosomal dominant nonsyndromic deafness 59 Aliases: DFNA59 autosomal dominant deafness 59	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:2876	laryngeal squamous cell carcinoma Aliases: Epidermoid carcinoma of the Larynx squamous cell carcinoma of larynx	ACHE ACYP2 ADH1B ALG1 ALG3 ANXA5 CAT CD44 CYP2E1 CYP3A4 CYP3A5 CYP4F3 FADS1 FADS2 GALNT7 GPX1 HK2 HPGDS HPSE INPPL1 LGALS1 LTA4H MMP25 MMUT MTAP NT5E PARP1 PIK3CA PIK3CB PIK3CD PIK3CG PKD2 PLCG1 PPP1R3A PRKAA2 PTEN PTGS2 ST8SIA4 STS UGT1A1 VCAN	10195 10855 125 142 1462 1571 1576 1577 27306 2876 308 3099 3636 3956 3992 4048 4051 412 43 4507 4594 4907 51809 5290 5291 5293 5294 5311 5335 54658 5506 5563 56052 5728 5743 64386 7903 847 9415 960 98	Homo sapiens (human)
DOID:12849	autistic disorder Aliases: Kanner's syndrome autism autistic disorder of childhood onset childhood autism infantile autism	ABAT ABO ACACA ACADSB ACAN ACE ACSL4 ACSM3 AKR1A1 ALDH1A3 ALDH2 ALDH5A1 ALG13 AMT AMY1A AMY1B AMY1C APRT ARSA ARSD ARSI ATP6AP2 ATP6V1A B3GLCT BST1 CALR CAT CD38 CDH13 CHAT CLEC7A CMAS CNTN2 CNTN3 CNTN4 CNTN5 CNTN6 COMT CS CYP11A1 CYP11B1 CYP11B2 CYP19A1 CYP1A2 CYP1B1 CYP21A2 CYP27A1 CYP2C19 CYP2E1 CYP2R1 DGCR2 DHCR24 DHCR7 DLD ELOVL2 ENO2 EPHX2 EXT1 FADS1 FADS2 FH FOLR1 FOLR2 G6PD GAD1 GAD2 GALNT14 GALNT17 GLDC GLO1 GLUL GMDS GNPAT GNPTAB GPX1 HAGH HPGDS IDS IL18RAP IL1RAP IL1RAPL1 IL1RAPL2 L1CAM LDHB LIPG LYZ MACROD2 MAN1B1 MBD4 MBOAT7 MRC1 NAGA NAGLU NCAM1 NTM NTNG1 OCRL OGG1 PAFAH1B1 PC PCYT1A PIGH PIGL PIK3CA PIK3CB PIK3CD PIK3CG PKD2 PLA2G12A PLA2G4A PLA2G4C PLAUR PLCB1 POMGNT1 PTDSS1 PTEN PTGES3 PTGES PTGS1 PTGS2 RTN4R SCD SDC2 SDC4 SDHB SDHC SDHD SHMT1 SHMT2 SLC25A12 SLC2A3 SLC33A1 SLC35A3 SLC35G1 SMC3 SOAT1 SPHK2 SRD5A3 ST8SIA2 STS SYNJ1 TM7SF2 TNF TPI1 UGT1A1 UPP2	1012 10159 10327 10728 1103 11141 11253 120227 1312 140733 1431 145173 151531 152330 1544 1545 1557 1571 1583 1584 1585 1588 1589 1593 159371 1636 1717 1718 1738 176 18 2026 2053 2131 217 2182 220 2271 22854 23236 23443 2348 2350 2539 2571 2572 26280 27255 27306 2731 2739 275 2752 276 2762 277 278 28 2876 3029 31 340075 3423 353 3556 36 3897 3945 3992 4069 410 412 414 4360 4668 4669 4684 4952 4968 5048 5067 50863 5091 5130 523 5283 5290 5291 5293 5294 5311 5321 5329 53942 54658 54898 55624 55907 56848 5728 5742 5743 6296 6319 6383 6385 6390 6391 6392 64409 64581 6470 6472 65078 6515 6646 683 6900 7108 7124 7167 79143 7915 79158 79623 79644 79868 811 8128 81579 8443 847 8604 8605 8807 8867 8930 9126 9197 9388 9415 9487 952 9536 9791 9993	Homo sapiens (human)
DOID:0110798	hereditary spastic paraplegia 46 Aliases: SPG46 autosomal recessive spastic paraplegia 46 autosomal recessive spastic paraplegia type 46	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:3490	Noonan syndrome Aliases: Turner's phenotype, karyotype normal	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:12252	obsolete Cushing's syndrome	ACAT1 ACE AKR1B1 APRT CYP11B1 CYP11B2 CYP17A1 CYP19A1 CYP3A4 CYP4F3 FASN FH HSD11B1 HSD11B2 HSD3B1 HSD3B2 SMUG1	1576 1584 1585 1586 1588 1636 2194 2271 231 23583 3283 3284 3290 3291 353 38 4051	Homo sapiens (human)

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