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 **5951 - 5975** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼
DOID:0111458	galactose epimerase deficiency Aliases: GALE deficiency GALE-D UDP-galactose-4-epimerase deficiency epimerase deficiency galactosemia galactosemia III galactosemia type 3 uridine diphosphate galactose-4-epimerase deficiency	GALE GALK1 GALT	2582 2584 2592	Homo sapiens (human)
DOID:0110766	hereditary spastic paraplegia 13 Aliases: SPG13 autosomal dominant spastic paraplegia 13	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:0110495	autosomal recessive nonsyndromic deafness 37 Aliases: DFNB37 autosomal recessive deafness 37	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:2860	hemoglobinopathy Aliases: hemoglobinopathies	ABO ALDOA CD55 FUT1 G6PD GPI HK1 NT5E PKLR SCD TPI1 UGT1A1	1604 226 2523 2539 28 2821 3098 4907 5313 54658 6319 7167	Homo sapiens (human)
DOID:2411	granular cell tumor Aliases: neoplasm of granular cell	ATP6AP2 FASN PTEN	10159 2194 5728	Homo sapiens (human)
DOID:0111228	Sveinsson chorioretinal atrophy Aliases: HPCD SCRA atrophia areata helicoid peripapillary chorioretinal degeneration peripapillary chorioretinal degeneration, Icelandic type	CAT CYP1B1 CYP2C19 ENO2 GAD1 GPNMB GPX3 IDS IGF2R MRC1 PIK3CA PIK3CD PIK3CG RPE	10457 1545 1557 2026 2571 2878 3423 3482 4360 5290 5293 5294 6120 847	Homo sapiens (human)
DOID:4267	akinetic mutism Aliases: Coma vigilans	PRNP	5621	Homo sapiens (human)
DOID:11247	disseminated intravascular coagulation Aliases: DIC Defibrination syndrome Diffuse or disseminated intravascular coagulation	ANXA5 CD14 COLEC11 MASP1 MBL2 NCAM1 PC PLD1 SDC1 SELL SLC17A5 TNF	26503 308 4153 4684 5091 5337 5648 6382 6402 7124 78989 929	Homo sapiens (human)
DOID:0111058	platelet-type bleeding disorder 12 Aliases: BDPLT12 PGHS1 deficiency platelet COX1 deficiency platelet cyclooxygenase 1 deficiency platelet prostaglandin-endoperoxide synthase 1 deficiency	PTGS1	5742	Homo sapiens (human)
DOID:0060768	Smith-Magenis syndrome Aliases: 17p11.2 microdeletion syndrome chromosome 17p11.2 deletion syndrome	CYP11A1 FREM1 GAD2 NT5M PAFAH1B1 PRNP STS	1583 158326 2572 412 5048 5621 56953	Homo sapiens (human)
DOID:8691	mycosis fungoides Aliases: mycosis fungoides lymphoma	ACSBG1 CD44 FUT4 LGALS1 MTAP NCAM1 PIK3CA PIK3CB PIK3CD PIK3CG PKM PLA2G4D PTEN PTGS2 SELL SMUG1	23205 23583 2526 283748 3956 4507 4684 5290 5291 5293 5294 5315 5728 5743 6402 960	Homo sapiens (human)
DOID:203	exostosis Aliases: bone spur bony outgrowth orbital exostosis osteophyte swimmer's exostosis	ACAN ACLY ADH1B APRT B3GALT6 B3GAT1 CD14 CD44 DCN EXT1 EXT2 EXTL3 FMOD HPSE HSPG2 IDH1 IDH2 KL PLCG2 PTEN PTGS2 SMUG1 TNKS	10855 125 126792 1634 176 2131 2132 2137 2331 23583 27087 3339 3417 3418 353 47 5336 5728 5743 8658 929 9365 960	Homo sapiens (human)
DOID:7997	thyrotoxicosis	ABO ACACA ACE ALG1 ANXA5 APRT ATP6AP2 B3GNT2 BAAT BDH1 CALR CAT CD14 CMAS COMT CS CYP19A1 CYP1A1 CYP21A2 CYP27B1 CYP2C9 CYP2R1 CYP7A1 DEGS1 ENPP2 FCER2 FCGR3B FUT2 GAD1 GAD2 GLO1 GLUL GPX1 ICAM1 IL18R1 IL18RAP IL1RL1 KLRC1 LGALS9 LYZ MBL2 NAMPT NCAM1 NT5E OGG1 PARP1 PC PCYT1A PIK3CA PIK3CB PIK3CD PIK3CG PLA2G1B PLA2G2A PLA2G6 PPT1 PRKAA2 PTEN PTGDS SCD SELE SELL SIGLEC1 SLC2A3 SLC2A4 SMUG1 ST3GAL1 ST6GAL1 TM7SF2 UGDH UGT1A1 UGT2B17 VCAM1	10135 10159 10678 120227 1312 142 1431 1543 1559 1581 1588 1589 1594 1636 2208 2215 23583 2524 2571 2572 2739 2752 28 2876 308 31 3383 353 3821 3965 4069 4153 4684 4907 4968 5091 5130 5168 5290 5291 5293 5294 5319 5320 54658 5538 5563 55907 56052 570 5728 5730 622 6319 6401 6402 6480 6482 6515 6517 6614 7108 7358 7367 7412 811 8398 847 8560 8807 8809 9173 929	Homo sapiens (human)
DOID:0050167	autoimmune polyendocrine syndrome type 1 Aliases: Autoimmune Polyglandular Syndrome I Whitaker syndrome autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy	ADH1A CD1D CLEC7A CYP1A2 CYP2B6 DLAT FCGR3B LYZ VCAM1	124 1544 1555 1737 2215 4069 64581 7412 912	Homo sapiens (human)
DOID:2801	nonspecific interstitial pneumonia Aliases: NSIP	SFTPC	6440	Homo sapiens (human)
DOID:9643	babesiosis Aliases: Babesiasis Infection by babesia piroplasmosis	UMOD	7369	Homo sapiens (human)
DOID:2476	hereditary spastic paraplegia Aliases: French settlement disease Strumpell-Lorrain disease familial spastic paraplegia hereditary spastic paraparesis	B4GALNT1 CYP2B6 CYP2U1 CYP39A1 CYP7B1 FAR1 GBA2 L1CAM L2HGDH MAG PCYT2 PLA2G6 PNPLA6 PNPLA7 SELENOI SLC33A1 ST3GAL5	10908 113612 1555 2583 375775 3897 4099 51302 57704 5833 79944 8398 84188 85465 8869 9197 9420	Homo sapiens (human)
DOID:456	ascariasis Aliases: Ascariasis - roundworm	CAT CHIT1 CYP1A1 SIGLEC1	1118 1543 6614 847	Homo sapiens (human)
DOID:14224	tracheal calcification Aliases: Calcification of trachea	EBP	10682	Homo sapiens (human)
DOID:2024	placental choriocarcinoma Aliases: Choriocarcinoma of the Placenta	CYP19A1 STS	1588 412	Homo sapiens (human)
DOID:0111158	SADDAN Aliases: SADDAN dysplasia severe achondroplasia with developmental delay and acanthosis nigricans	ACAN CYP2C19 DCN PLCG1	1557 1634 176 5335	Homo sapiens (human)
DOID:8866	actinic keratosis Aliases: SK - Solar keratosis Senile hyperkeratosis Solar keratosis actinic (Solar) Keratosis	ACAN ACE AKR1B10 ALOX12 ALOX12B B3GAT1 CALR CAT CD14 CD1D CD44 CHI3L1 CNTN2 CYP1A1 CYP24A1 CYP2B6 DCN DHCR24 EBP ENPP2 FH GALNTL5 GBA1 HK2 HSD11B1 IL1R1 INPP5A KDSR KL LGALS3 LYZ MCAT MINPP1 MMUT MOGS MRC1 MSMO1 NDUFAB1 NTHL1 NTM OGG1 OLR1 PFKFB3 PGM1 PIK3CA PIK3CB PIK3CD PIK3CG PLA2G4A PLCD1 PLD2 POFUT1 PPT1 PRSS8 PTEN PTGS1 PTGS2 SCD SDC1 SDC4 SDHD SIRT6 SOAT1 SPHK2 STS VCAM1	10682 1116 1543 1555 1591 1634 1636 168391 1718 176 2271 23509 239 242 2531 2629 27087 27349 3099 3290 3554 3632 3958 4069 412 4360 4594 4706 4913 4968 4973 50863 51548 5168 5209 5236 5290 5291 5293 5294 5321 5333 5338 5538 5652 56848 57016 5728 5742 5743 6307 6319 6382 6385 6392 6646 6900 7412 7841 811 847 912 929 9365 9562 960	Homo sapiens (human)
DOID:14040	autoimmune polyendocrine syndrome Aliases: Autoimmune polyglandular failure Lloyd's syndrome autoimmune polyendocrinopathy	ADH1A AKR1A1 ANXA5 APRT CD1D CLEC7A CYP1A2 CYP2B6 DLAT FCGR3B GPI LCT LYZ MBL2 NT5E PC PIK3CA PLA2G2A PLA2G6 PTGS1 SELE SLC17A5 VCAM1	10327 124 1544 1555 1737 2215 26503 2821 308 353 3938 4069 4153 4907 5091 5290 5320 5742 6401 64581 7412 8398 912	Homo sapiens (human)
DOID:0081023	retinal cone dystrophy 4	CACNA2D4	93589	Homo sapiens (human)
DOID:0110305	autosomal dominant limb-girdle muscular dystrophy type 1 Aliases: LGMD1D autosomal dominant limb-girdle muscular dystrophy type 1E muscular dystrophy limb-girdle type 1D muscular dystrophy limb-girdle type 1E	ACAN ACE ACHE AGK AGL ALDH7A1 ALOX12 ALPP APRT ATRNL1 B3GALNT2 B4GALNT2 B4GAT1 CD44 CHKA CHKB CRPPA CTNS DAG1 DCN DPEP1 DPM1 DPM2 DPM3 ENO1 FKRP FKTN GAA GK GLB1 GMPPB GNE HACD1 HPGDS HSPG2 IDH2 IMPA1 INPP5B INPP5K LARGE1 LARGE2 LGALS3 MBL2 MGAM PARP1 PIK3C2A PMM2 POGLUT1 POMGNT1 POMGNT2 POMK POMT1 POMT2 PRG2 PRKAA2 PYGM RGN RXYLT1 SDC2 SI SIRT2 SLC3A1 ST3GAL4 SYNJ1 SYNJ2	10020 10329 10585 11041 1119 1120 120071 124872 142 148789 1497 1605 1634 1636 176 178 1800 2023 2218 22933 239 250 2548 26033 2710 2720 27306 29925 29954 3339 3418 353 3612 3633 3958 4153 43 501 51763 5286 5373 54344 5553 55624 5563 55750 56983 5837 6383 6476 6484 6519 729920 79147 84197 84892 8813 8818 8867 8871 8972 9104 9200 9215 960	Homo sapiens (human)

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