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 **1476 - 1500** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism
DOID:0060563	Char syndrome	TFAP2B	7021	Homo sapiens (human)
DOID:0111182	familial hemiplegic migraine 2 Aliases: FHM2 Familial hemiplegic migraine-2 MHP2	Atp1a2	98660	Mus musculus (house mouse)
DOID:5463	cochlear disease	Tnf	24835	Rattus norvegicus (Norway rat)
DOID:1657	ventricular septal defect Aliases: Interventricular septal defect Ventricular septal abnormality	ACADVL ARSA ARSD ARSH B3GALT6 B3GLCT CHST3 COMT DGCR2 DHCR7 ECHS1 EXT2 FIG4 GPC3 GPC6 HAS2 IGF2 MASP1 MGAT2 NSDHL PDHA1 PFKL PIGL PIGP PIGQ PIK3CA SDHA SMC3 SOAT1 TALDO1 TGDS TKT TMEM260 XYLT1 XYLT2	10082 126792 1312 145173 1717 1892 2132 23483 2719 3037 347527 3481 37 410 414 4247 50814 51227 5160 5211 5290 54916 5648 6389 64131 64132 6646 6888 7086 9091 9126 9469 9487 9896 9993	Homo sapiens (human)
DOID:3362	coronary aneurysm Aliases: Aneurysm of coronary vessels Aneurysmal lesion of coronary artery Arteriovenous aneurysm of coronary vessels	Adipoq	11450	Mus musculus (house mouse)
DOID:1852	intrahepatic cholestasis Aliases: neonatal intrahepatic cholestasis	Slc25a13	50799	Mus musculus (house mouse)
DOID:0060673	Peters anomaly	B3GALNT2 B3GLCT B4GAT1 CHST14 CRPPA CYP1B1 DAG1 EBP FKRP FKTN HSPG2 LARGE1 POMGNT1 POMGNT2 POMK POMT1 POMT2 RXYLT1 SC5D SMC3	10329 10585 10682 11041 113189 145173 148789 1545 1605 2218 29954 3339 55624 6309 729920 79147 84197 84892 9126 9215	Homo sapiens (human)
DOID:4448	macular degeneration Aliases: Macular degeneration of retina	Bad Ppargc1a Tlr4	12015 19017 21898	Mus musculus (house mouse)
DOID:0110644	long QT syndrome 1 Aliases: LQT1 ventricular fibrillation with prolonged QT interval	Kcnq1	16535	Mus musculus (house mouse)
DOID:12098	trigeminal neuralgia Aliases: Trifacial neuralgia trifocal neuralgia	ACLY DHCR24 PARP1 PRNP	142 1718 47 5621	Homo sapiens (human)
DOID:4608	common bile duct neoplasm Aliases: neoplasm of common bile duct	Tymp	315219	Rattus norvegicus (Norway rat)
DOID:2256	osteochondrodysplasia Aliases: Cartilage Development disorder Congenital anomaly of cartilage Osteochondrodysplasia syndrome chondrodystrophy skeletal dysplasia	ACAN ACHE AKR1B1 ALDH3A2 ALG9 ALPL ARSB B3GAT3 B4GALT7 CD38 CHST1 CHST3 COL9A2 CTSA CYP27B1 CYP2B6 CYP2C19 CYP2C9 DCN EBP ENPP1 EXTL3 GALNS GLB1 GNPTAB GNPTG HS6ST1 HSPG2 HYAL1 IDS IDUA LFNG MICA NAGLU NANS NEU1 PAPSS2 PGM3 PTEN SGSH SLC26A2 SLC35A3 SLC35D1 SMUG1 SPAM1 XYLT1	100507436 10682 11285 1298 1555 1557 1559 1594 1634 176 1836 2137 224 231 23169 23443 23583 249 2588 26229 2720 3339 3373 3423 3425 3955 411 43 4669 4758 5167 5238 54187 5476 5728 64131 6448 6677 79158 79796 84572 8534 9060 9394 9469 952	Homo sapiens (human)
DOID:0060055	popliteal pterygium syndrome Aliases: facio-genito-popliteal syndrome popliteal web syndrome	B3GLCT POFUT2	145173 23275	Homo sapiens (human)
DOID:11722	myotonic dystrophy type 1 Aliases: Dystrophia myotonica Steinert disease congenital myotonic dystrophy myotonic dystrophy of Steinert	ACE ALPP ATRNL1 CAT CHI3L1 CYP2B6 DAG1 DGCR2 FASN GAD2 GCK HAS2 HSPG2 LPL MGAM MRC1 MTM1 MTMR1 PGD PGP PLCB1 PRKAA2 PRNP SELE SELP SI SIRT6 SLC2A4 SLC35G1 ST8SIA4 UGT8	1116 1555 159371 1605 1636 2194 23236 250 2572 26033 2645 283871 3037 3339 4023 4360 4534 51548 5226 5563 5621 6401 6403 6476 6517 7368 7903 847 8776 8972 9993	Homo sapiens (human)
DOID:0080718	GNE myopathy Aliases: Distal myopathy, Nonaka type Hereditary Inclusion Body Myopathy Nonaka myopathy inclusion body myopathy 2	GNE	10020	Homo sapiens (human)
DOID:9266	cystinuria	ABO ACADM AGL AGXT AKR1B1 ALDOA ALG9 APRT CYP4F3 EHHADH ENO3 EPM2A FBP1 G6PC1 G6PC2 G6PC3 G6PD GAA GALE GALK1 GALT GBE1 GLA GPI GYG1 GYG2 GYS2 HADHA HK1 HPGDS ICAM1 IDS IGF2R LDHA LGALS1 LPL MGAM MGAT1 MPDU1 MTM1 NDUFAB1 PFKL PFKM PGAM2 PGK1 PGM1 PYGL PYGM SI SLC2A2 SLC35A2 SLC37A4 SLC3A1 TKT UGP2 UGT1A10 UGT1A1 UGT1A4 UGT1A6 UGT1A7 UGT1A8 UGT8 VCAM1	178 189 1962 2027 2203 226 231 2538 2539 2542 2548 2582 2584 2592 2632 2717 27306 28 2821 2992 2998 3030 3098 3383 34 3423 3482 353 3939 3956 4023 4051 4245 4534 4706 5211 5213 5224 5230 5236 54575 54576 54577 54578 54657 54658 57818 5836 5837 6476 6514 6519 7086 7355 7360 7368 7412 7957 79796 8908 8972 92579 9526	Homo sapiens (human)
DOID:1800	neuroendocrine carcinoma	Eno	33351	Drosophila melanogaster (fruit fly)
DOID:0060671	cerebral cavernous malformation 3	SMUG1	23583	Homo sapiens (human)
DOID:4362	cervical cancer Aliases: cervical neoplasm cervix cancer cervix uteri cancer neoplasm of uterine cervix tumor of the Cervix Uteri uterine cervical neoplasm	Tnf	24835	Rattus norvegicus (Norway rat)
DOID:0110777	hereditary spastic paraplegia 26 Aliases: GM2 synthase deficiency SPG26 autosomal recessive spastic paraplegia 26 autosomal recessive spastic paraplegia type 26	B4galnt1	14421	Mus musculus (house mouse)
DOID:5273	cutaneous leiomyosarcoma Aliases: leiomyosarcoma of the skin	FH	2271	Homo sapiens (human)
DOID:11247	disseminated intravascular coagulation Aliases: DIC Defibrination syndrome Diffuse or disseminated intravascular coagulation	Tnf	21926	Mus musculus (house mouse)
DOID:2526	prostate adenocarcinoma	Adipoq Akt1 Akt2 Braf Myc	109880 11450 11651 11652 17869	Mus musculus (house mouse)
DOID:0050814	temtamy preaxial brachydactyly syndrome Aliases: PREAXIAL BRACHYDACTYLY SYNDROME, TEMTAMY TYPE	chsy1	100036707	Xenopus tropicalis (tropical clawed frog)
DOID:10273	heart conduction disease Aliases: heart rhythm disease	CACNA2D3 ETNK1 ETNK2	55224 55500 55799	Homo sapiens (human)

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