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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 **4201 - 4225** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism
DOID:2747	glycogen storage disease Aliases: glycogenosis	Gyg1 Gys2 Pfkl Pfkm Pfkp Phka1 Phka2 Phkg2 Prkag2 Pygl	108099 110094 110095 18641 18642 18679 232493 27357 56421 68961	Mus musculus (house mouse)
DOID:0110470	autosomal recessive nonsyndromic deafness 15 Aliases: DFNB15 DFNB72 DFNB95 autosomal recessive deafness 15 autosomal recessive deafness 72 autosomal recessive deafness 95	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:4988	alcoholic pancreatitis	ADH1B ADH1C ADH4 AKR1A1 ALDH2 CD14 CEL CYP2E1 HPGDS LPL UGT1A7	10327 1056 125 126 127 1571 217 27306 4023 54577 929	Homo sapiens (human)
DOID:0110499	autosomal recessive nonsyndromic deafness 40 Aliases: DFNB40 autosomal recessive deafness 40	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:12399	pathological gambling Aliases: Compulsive gambling	Comt Htr2a	24267 29595	Rattus norvegicus (Norway rat)
DOID:0080301	atypical hemolytic-uremic syndrome	BAAT DGKE G6PD GPI GRHPR MASP1 PIGA	2539 2821 5277 5648 570 8526 9380	Homo sapiens (human)
DOID:14524	senile degeneration of brain Aliases: Senile brain degen.	ACSM3 ARSB B3GALNT2 B3GAT3 B3GLCT B4GAT1 CHST3 CNTN5 CNTN6 COMT CRPPA DAG1 DHCR24 EBP EOGT FIG4 FKRP FKTN GALC GBA1 GLDC GMPPB GPC3 GUSB IDS IDUA INPP5E L1CAM LARGE1 MBOAT7 MTM1 NT5E OGDH PAFAH1B1 PDHA1 PIK3CA PIK3CB PIK3CD PIK3CG POMGNT1 POMGNT2 POMK POMT1 POMT2 PTDSS1 PTEN RXYLT1 SFTPA1 SFTPA2 SFTPC SFTPD SLC17A5 SUMF1 UGCG	10329 10585 10682 11041 1312 145173 148789 1605 1718 2218 2581 26229 2629 26503 2719 27255 2731 285203 285362 2990 29925 29954 3423 3425 3897 411 4534 4907 4967 5048 5160 5290 5291 5293 5294 53942 55624 56623 5728 6296 6440 6441 653509 729238 729920 7357 79143 79147 84197 84892 9215 9469 9791 9896	Homo sapiens (human)
DOID:998	eosinophilia-myalgia syndrome Aliases: Eosinophilia myalgia syndrome	CAT	847	Homo sapiens (human)
DOID:0050524	maturity-onset diabetes of the young Aliases: MODY Mason-type diabetes	APRT CEL CYB5R4 FBP1 FOLR2 GAD1 GCK GGT1 GPD1 HK1 HK2 HK3 HKDC1 IL18R1 INS PCK1 PDHX PDX1 PLCG1 PPP1R3B SACM1L SLC2A2	1056 2203 22908 2350 2571 2645 2678 2819 3098 3099 3101 353 3630 3651 5105 51167 5335 6514 79660 80201 8050 8809	Homo sapiens (human)
DOID:0080322	polycystic kidney disease	alg5 xylt2	448400 448472	Xenopus tropicalis (tropical clawed frog)
DOID:4448	macular degeneration Aliases: Macular degeneration of retina	Tl	43222	Drosophila melanogaster (fruit fly)
DOID:4540	dysgraphia	PIK3CA	5290	Homo sapiens (human)
DOID:0110816	hereditary spastic paraplegia 7 Aliases: SPG7 autosomal recessive spastic paraplegia 7 spastic paraplegia type 7	B4GALNT1 CYP2B6 CYP2U1 CYP39A1 CYP7B1 FAR1 FIG4 GBA2 L1CAM MAG PCYT2 PLA2G6 PNPLA6 SELENOI SLC33A1 ST3GAL5	10908 113612 1555 2583 3897 4099 51302 57704 5833 8398 84188 85465 8869 9197 9420 9896	Homo sapiens (human)
DOID:1040	chronic lymphocytic leukemia Aliases: B-cell chronic lymphocytic leukaemia B-cell chronic lymphocytic leukemia CLL chronic lymphatic leukaemia chronic lymphatic leukemia chronic lymphocytic leukaemia lymphoplasmacytic leukaemia lymphoplasmacytic leukemia	Myc	17869	Mus musculus (house mouse)
DOID:0050670	ataxic cerebral palsy Aliases: hypotonic cerebral palsy	CEL CYP2E1 NDUFAB1	1056 1571 4706	Homo sapiens (human)
DOID:5572	Beckwith-Wiedemann syndrome	ARSD ASAH1 CD48 CSPG5 GPC3 IGF2R IL1RL1 LGALS1 PGAP2 PIK3CA SMUG1	10675 23583 2719 27315 3482 3956 414 427 5290 9173 962	Homo sapiens (human)
DOID:9406	hypopituitarism Aliases: Pituitary insufficiency pituitary hormone 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:0060592	B-cell adult acute lymphocytic leukemia Aliases: B-cell adult acute lymphocytic leukaemia adult B acute lymphoblastic leukaemia adult B acute lymphoblastic leukemia adult B-lymphoblastic leukaemia adult B-lymphoblastic leukemia adult b-cell acute lymphoblastic leukaemia adult b-cell acute lymphoblastic leukemia adult b-cell lymphocytic leukaemia adult b-cell lymphocytic leukemia	CD22 FCN2 FUT4 MBL2 PIK3CA PIK3CB PIK3CD PIK3CG PTEN	2220 2526 4153 5290 5291 5293 5294 5728 933	Homo sapiens (human)
DOID:0110463	autosomal recessive nonsyndromic deafness 102 Aliases: DFNB102 autosomal recessive deafness 102	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:0110676	congenital myasthenic syndrome 13 Aliases: CMS13 CMSTA2 congenital myasthenic syndrome 13 with tubular aggregates congenital myasthenic syndrome with tubular aggregates 2	Alg7	34711	Drosophila melanogaster (fruit fly)
DOID:0070194	autosomal recessive chronic granulomatous disease 3 Aliases: CDG3 autosomal recessive chronic granulomatous disease cytochrome b-positive type III autosomal recessive cytochrome b-positive CGD type III chronic granulomatous disease due to NCF4 deficiency	MGAT2	4247	Homo sapiens (human)
DOID:8534	gastroesophageal reflux disease Aliases: Acid reflux GERD GERD - Gastro-esophageal reflux disease Gastresophageal reflux Gastro-esophageal reflux Gastroesophageal reflux	ABAT ACE AGRN ALPP ARSA ATP6V1A ATRNL1 CALR CHAT COG7 COMT CYP2C19 DDOST DEGS1 ECI1 EXT2 FCSK FUT3 GNE HPGDS IL18R1 IL1R1 MCEE NT5E NTM NTNG1 OCRL PGM3 PIGA PIGN PIK3CA PIK3CB PIK3CD PIK3CG PLA2G2A PLB1 PLCE1 PRKCSH PTGES PTGS1 PTGS2 SFTPA1 SFTPA2 SFTPC SLC2A10 SLC35A2 SMC3 SYNJ1 TLR2	10020 1103 1312 151056 1557 1632 1636 1650 18 197258 2132 22854 23556 250 2525 26033 27306 3554 375790 410 4907 4952 50863 51196 523 5238 5277 5290 5291 5293 5294 5320 5589 5742 5743 6440 653509 7097 729238 7355 81031 811 84693 8560 8809 8867 9126 91949 9536	Homo sapiens (human)
DOID:3748	esophagus squamous cell carcinoma Aliases: SCC of esophagus SCC of oesophagus oesophagus squamous cell carcinoma	Akt1 Idh2 Tp53	24185 24842 361596	Rattus norvegicus (Norway rat)
DOID:11506	suppurative otitis media Aliases: Otitis media with effusion - purulent Purulent otitis media	CAT TLR2 TLR4	7097 7099 847	Homo sapiens (human)
DOID:0060000	infective endocarditis	Tlr6	21899	Mus musculus (house mouse)

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