GlyCosmos Portal

Source	Last Updated
Alliance of Genome Resources	October 9, 2024
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **3401 - 3425** of **4649** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source ▲
DOID:14261	fragile X syndrome Aliases: FRAGILE X MENTAL RETARDATION SYNDROME MARKER X SYNDROME MARTIN-BELL SYNDROME	FMR1 FXR1 FXR2 MMP9	2332 4318 8087 9513	Homo sapiens (human)	Alliance of Genome Resources
DOID:14264	benign neonatal seizures Aliases: benign familial neonatal seizures benign neonatal convulsions	ATP1A2 KCNQ2 KCNQ3	3785 3786 477	Homo sapiens (human)	Alliance of Genome Resources
DOID:14283	primary hypertrophic osteoarthropathy Aliases: Pachydermoperiostosis of nail Pachydermoperiostosis syndrome	SLCO2A1	6578	Homo sapiens (human)	Alliance of Genome Resources
DOID:14289	Ebstein anomaly Aliases: Ebstein's anomaly Ebstein's anomaly of common atrioventricular valve Ebstein's anomaly of right atrioventricular valve Ebstein's anomaly of tricuspid valve	BMPR1A	657	Homo sapiens (human)	Alliance of Genome Resources
DOID:14291	Noonan syndrome with multiple lentigines Aliases: Capute-Rimoin-Konigsmark-Esterly-Richardson syndrome Generalized lentiginosis Gorlin syndrome II LEOPARD syndrome Lentiginosis profusa syndrome Moynahan syndrome Multiple lentigines syndrome Progressive cardiomyopathic lentiginosis	PTPN11	5781	Homo sapiens (human)	Alliance of Genome Resources
DOID:1432	blindness Aliases: vision impairment vision loss visual impairment	AQP4 ATP6V0E1 MYO15A PNPLA6 PNPLA7 RPL26 SLC7A14	10908 361 375775 51168 57709 6154 8992	Homo sapiens (human)	Alliance of Genome Resources
DOID:14320	generalized anxiety disorder	GPER1 HTR1A HTR1B HTR1D HTR1E HTR2B NR3C1 SLC6A4 ZNF462	2852 2908 3350 3351 3352 3354 3357 58499 6532	Homo sapiens (human)	Alliance of Genome Resources
DOID:14323	Marfan syndrome Aliases: Marfan's syndrome	ACVR2A ACVR2B BMP2 BMP4 BMP6 BMP7 FBN1 MATN3 MMP12 MMP14 MMP2 TGFBR2	2200 4148 4313 4321 4323 650 652 654 655 7048 92 93	Homo sapiens (human)	Alliance of Genome Resources
DOID:14330	Parkinson's disease Aliases: Parkinson disease paralysis agitans	A2M AAK1 ABL1 ACHE ACO2 ADCY5 ADH7 AFDN AGTR1 AKT1 AKT2 AKT3 ANXA5 APOA1 APOE ATG9A ATG9B ATM ATP13A2 ATP13A3 ATP13A5 B2M BDNF BMP2K CALR3 CALR CASP9 CAST CCK CCN2 CHRNB3 CREB1 CYP1A1 DBH DBN1 DLG1 DNAJC13 DNM1L DRD1 DRD2 DRD3 DRD5 EGF EGFR EIF2AK2 EIF4G1 EIF4G2 EIF4G3 EPHX2 EPO ERBB2 FAS FASLG FBXO7 FDXR FOXO1 FOXO3 FOXO4 GAK GBA1 GDF5 GDNF GIGYF2 GJC2 GLRX GPI GPR37 GRK3 GRN GSK3B GSTO1 GSTO2 HBB HCN3 HDAC6 HIPK1 HIPK2 HIPK3 HLA-DRA HLA-DRB1 HMGCR HSF1 HSPA4 HSPA8 HSPA9 HSPD1 HTR1A HTT IGF1R IGF2 INSR INSRR KLK6 LEP LRRK1 LRRK2 MAP2K3 MAP2K6 MAPK14 MAPK9 MAPT MINAR2 MXI1 ND3 NDUFB8 NEFL NGFR NOS1 NOX1 NPBWR1 NPBWR2 NR4A1 NTSR1 NUS1 OGG1 OPRD1 OPRK1 OPRL1 OPRM1 OPTN PAK4 PAK5 PARK7 PARP1 PGK1 PGK2 PHACTR2 PINK1 PISD PLA2G6 PPARGC1A PPARGC1B PPP1R9B PPRC1 PRKAA1 PRKAA2 PRLHR PTCH1 PTCH2 PTGIS PTPRN2 PTPRN RTCB SDHA SEC22B SERPINF1 SIRT1 SLC11A2 SLC17A6 SLC17A8 SLC18A2 SLC40A1 SNCA SNCB SNCG SOD1 SOD2 SPCS2 SRRM2 SSTR1 SSTR2 SSTR3 SSTR4 SSTR5 SYNJ1 SYNJ2 TARDBP TFAM TOR1A TOR1B TOR2A TOR3A TPPP3 TPPP TSPAN3 TSPAN7 VDAC1 VPS13A VPS13C YIF1B	10000 100127206 10013 10059 10099 10114 10133 10298 10891 11076 111 11315 1142 116150 119391 120892 125972 131 133522 1385 142 1432 1490 1543 157 1621 1627 1739 1812 1813 1814 1816 185 1861 1950 1956 1981 1982 2 204851 2053 2056 2064 207 208 2232 22848 2308 23082 2309 23230 23317 23400 23411 23435 23524 23761 246213 25 25793 2580 26058 2629 2668 27035 27348 27433 2745 2821 2831 2832 2834 285973 2861 2896 28996 2932 30061 3043 3064 308 3122 3123 3156 3164 3297 3308 3312 3313 3329 335 3350 344905 348 3480 3481 355 356 3643 3645 3952 4137 43 4301 4303 4537 4601 4714 472 4747 4804 4842 4891 4923 4968 4985 4986 4987 4988 50 51493 51673 5176 5230 5232 54832 55589 5562 5563 5601 5606 5608 5610 5653 567 57084 57144 57165 5727 5740 57657 5798 5799 627 6389 64222 65018 6571 6620 6622 6623 6647 6648 6751 6752 6753 6754 6755 7019 7102 7416 79065 79572 79705 811 8200 831 8398 842 84687 8643 8672 885 8867 8871 90522 9446 9554 9749 9789	Homo sapiens (human)	Alliance of Genome Resources
DOID:14365	systemic primary carnitine deficiency disease Aliases: carnitine transporter deficiency carnitine uptake defect deficiency of plasma-membrane carnitine transporter primary carnitine deficiency renal carnitine transport defect	SLC22A5	6584	Homo sapiens (human)	Alliance of Genome Resources
DOID:1440	Machado-Joseph disease Aliases: Azorean disease MJD SCA3 spinocerebellar ataxia 3 spinocerebellar ataxia type 3	ATXN3 GFPT1 GFPT2 SLC18A2	2673 4287 6571 9945	Homo sapiens (human)	Alliance of Genome Resources
DOID:14400	capillary leak syndrome	PON1	5444	Homo sapiens (human)	Alliance of Genome Resources
DOID:1441	autosomal dominant cerebellar ataxia Aliases: spinocerebellar ataxia	ATXN1 ATXN1L ATXN2 ATXN2L ITPR1 ITPR2 ITPR3 NPTX1 SAMD9L	11273 219285 342371 3708 3709 3710 4884 6310 6311	Homo sapiens (human)	Alliance of Genome Resources
DOID:14415	Legg-Calve-Perthes disease Aliases: Calve - Perthes' disease Coxa plana Juvenile osteochond-hip/pelvis Juvenile osteochondrosis of hip and/or pelvis Perthe's disease Perthes disease juvenile osteochondrosis of hip and pelvis osteochondrosis of Legg-Calve-Perthes pseudocoxalgia	COL2A1	1280	Homo sapiens (human)	Alliance of Genome Resources
DOID:14447	gonadal dysgenesis Aliases: Gonadal dysgenesis syndrome	CBX2 DLC1 STARD13	10395 84733 90627	Homo sapiens (human)	Alliance of Genome Resources
DOID:14448	46,XY sex reversal Aliases: 46 XY gonadal dysgenesis Pure gonadal dysgenesis 46,XY Swyer syndrome	DHX37	57647	Homo sapiens (human)	Alliance of Genome Resources
DOID:14450	46 XX gonadal dysgenesis Aliases: ovarian dysgenesis	FSHR NUP107	2492 57122	Homo sapiens (human)	Alliance of Genome Resources
DOID:14451	hyperkalemic periodic paralysis Aliases: familial hyperkalemic periodic paralysis	SCN4A	6329	Homo sapiens (human)	Alliance of Genome Resources
DOID:14452	hypokalemic periodic paralysis Aliases: Hypokalemic familial periodic paralysis Periodic paralysis I Westphal disease familial hypokalemic periodic paralysis periodic hypokalemic paralysis	CACNA1S KCNE3 SCN4A SCNN1B SCNN1D SCNN1G TUBB4A TUBB4B TUBB	10008 10382 10383 203068 6329 6338 6339 6340 779	Homo sapiens (human)	Alliance of Genome Resources
DOID:14453	farmer's lung Aliases: Farmers lung farmer lung	TNF	7124	Homo sapiens (human)	Alliance of Genome Resources
DOID:14498	lipoid proteinosis Aliases: Lipid proteinosis URBACH-WIETHE DISEASE	ECM1	1893	Homo sapiens (human)	Alliance of Genome Resources
DOID:14501	Sjogren-Larsson syndrome Aliases: FALDH deficiency SLS Sjogren Larsson syndrome Sjogren-Larsson's syndrome fatty acid alcohol oxidoreductase deficiency	ACSL3 ACSL4 ALDH3A1 ALDH3A2 ALDH3B1 ALDH3B2	218 2181 2182 221 222 224	Homo sapiens (human)	Alliance of Genome Resources
DOID:14502	cholesterol ester storage disease Aliases: CESD partial LAL deficiency partial LIPA deficiency partial cholesterol ester hydrolase deficiency partial lysosomal acid lipase deficiency	LIPA	3988	Homo sapiens (human)	Alliance of Genome Resources
DOID:14503	neuronal ceroid lipofuscinosis Aliases: hereditary ceroid lipofuscinosis	ATP13A2 ATP13A3 ATP13A5 CLN3 CTSD PPT1 PPT2 SOD2 SPNS1 SPNS2	1201 124976 1509 23400 344905 5538 6648 79572 83985 9374	Homo sapiens (human)	Alliance of Genome Resources
DOID:14504	Niemann-Pick disease Aliases: Sphingomyelinase Deficiency Disease lipoid histiocytosis sphingomyelin lipidosis	NPC1 NPC1L1 NPC2 SMPD1	10577 29881 4864 6609	Homo sapiens (human)	Alliance of Genome Resources

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