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 **2876 - 2900** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼	Source
DOID:4783	mesangial proliferative glomerulonephritis	ALOX5 DCN PIK3CA PIK3CB PIK3CD PIK3CG PKD1	1634 240 5290 5291 5293 5294 5310	Homo sapiens (human)	DisGeNET
DOID:0070342	adult-onset type II citrullinemia Aliases: citrin deficiency	SLC25A13	10165	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110577	autosomal dominant nonsyndromic deafness 51 Aliases: DFNA51 autosomal dominant deafness 51 chromosome 9q21.11 duplication syndrome	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)	DisGeNET
DOID:10371	yaws Aliases: Bouba frambesia frambesia tropica frambosie polypapilloma tropicum thymosis	ACAT1 ACHE FUT4 ICAM1 LGALS3 SELE	2526 3383 38 3958 43 6401	Homo sapiens (human)	DisGeNET
DOID:8110	periampullary adenocarcinoma	MRC1 MTAP	4360 4507	Homo sapiens (human)	DisGeNET
DOID:0050564	autosomal dominant nonsyndromic deafness Aliases: autosomal dominant deafness	ACO2 ACOX1 ARSA CD109 CHSY1 COG4 LRTOMT OTOA OTOG PI4KB PSAP TECTA	135228 146183 220074 22856 25839 340990 410 50 51 5298 5660 7007	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:0060227	Adams-Oliver syndrome Aliases: Adams Oliver syndrome	EOGT	285203	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:2451	protein S deficiency Aliases: Protein S deficiency disease	ABO ACE ALG6 ANXA5 CEACAM5 CEACAM7 CYP2C9 DLD DPM1 DPM2 GLA HPSE LCT MBL2 MGAT2 MPI NGLY1 PC PIGA PMM2 PPP1R3B PPP1R3C PTEN SCD SDC1 SELP SMPD1 SRD5A3 STS	1048 10855 1087 1559 1636 1738 2717 28 29929 308 3938 412 4153 4247 4351 5091 5277 5373 5507 55768 5728 6319 6382 6403 6609 79644 79660 8813 8818	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET
DOID:0050635	alternating hemiplegia of childhood Aliases: AHC	ABO ACE ACHE ALDH3A2 ARSA ATP1A2 B4GALNT1 BST2 CACNA2D2 CD1D CDH13 CHI3L1 COL9A2 COMT CYB5R3 CYP1A2 CYP27A1 CYP2B6 CYP2C8 CYP2C9 DEGS1 DLD ELOVL4 ENO2 ENPP2 FCN2 GAD1 GAD2 GBA1 GBA2 GCDH GLUL GOLPH3 GPI GPX1 GUSB HK1 HPGDS HPRT1 IDH3A IDS INPPL1 KL L1CAM LYZ MAG MANBA MANEAL MGLL NAGA NCAM1 NCAN NEU3 OGA OGDH PAFAH1B1 PARP1 PGP PIGW PIK3CA PIK3CB PIK3CD PIK3CG PLA2G10 PLA2G2A PLA2G4A PLA2G6 PLB1 PNP PNPLA6 PPT1 PRNP PTEN PTGS2 SARM1 SEMA7A SHMT1 SIGLEC7 SIRT2 SLC2A4 SLC39A8 SMPD1 SMPD3 SMUG1 SPTLC1 ST8SIA4 SUCLA2 TMED9 TPI1	1012 10558 10724 10825 10908 1116 11343 1298 1312 142 1463 149175 151056 1544 1555 1558 1559 1593 1636 1727 1738 2026 2220 224 22933 23098 23583 2571 2572 2583 2629 2639 27036 27306 2752 28 2821 283871 284098 2876 2990 3098 3251 3419 3423 3636 3897 4069 4099 410 4126 43 4668 4684 477 4860 4967 5048 5168 5290 5291 5293 5294 5320 5321 54732 5538 55512 5621 5728 5743 57704 64083 64116 6470 6517 6609 6785 684 7167 7903 8398 8399 8482 8560 8803 912 9254 9365	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:0090029	CINCA Syndrome Aliases: IOMID syndrome NOMID syndrome Prieur-Griscelli syndrome chronic infantile neurological cutaneous articular syndrome chronic neurologic cutaneous and articular syndrome cryopyrin-associated periodic syndrome 3 infantile-onset multisystem inflammatory disease neonatal-onset multisystem inflammatory disease	FCGR3B PLCG2 RPE	2215 5336 6120	Homo sapiens (human)	DisGeNET
DOID:0070162	hereditary sensory and autonomic neuropathy type 1 Aliases: HSAN1 hereditary sensory and autonomic neuropathy type I	AGXT CYP4F3 FIG4 GAS1 SPTLC1 SPTLC2 SPTLC3	10558 189 2619 4051 55304 9517 9896	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:0080899	lung pleomorphic carcinoma	SLC3A2	6520	Homo sapiens (human)	Alliance of Genome Resources
DOID:589	congenital hemolytic anemia Aliases: congenital hemolytic anaemia hereditary hemolytic anaemia hereditary hemolytic anemia	ABO ACSL4 ALDOA CAT CD55 FUT1 G6PD GPI HK1 NDUFAB1 NT5E PKLR SCD TPI1 UGT1A1 UGT8	1604 2182 226 2523 2539 28 2821 3098 4706 4907 5313 54658 6319 7167 7368 847	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:1523	colon lymphoma Aliases: Colonic Lymphoma	NCAM1	4684	Homo sapiens (human)	DisGeNET
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)	DisGeNET DisGeNET Alliance of Genome Resources
DOID:627	severe combined immunodeficiency Aliases: SCID combined T and B cell inborn immunodeficiency	AMACR CD38 CEACAM5 CEACAM7 CYP2J2 EXTL3 FUT1 GPC5 HPSE IL18R1 LDHC LGALS1 MELTF NCAM1 NT5E PARP1 PDHX PGM3 PIK3CA PIK3CB PIK3CD PIK3CG PNP PTEN PTGS2 SOAT1 SRGN	1048 10855 1087 142 1573 2137 2262 23600 2523 3948 3956 4241 4684 4860 4907 5238 5290 5291 5293 5294 5552 5728 5743 6646 8050 8809 952	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET
DOID:0110060	amelogenesis imperfecta hypomaturation type 2A2 Aliases: AI2A2 amelogenesis imperfecta hypomaturation type IIA2 amelogenesis imperfecta pigmented hypomaturation type 2 amelogenesis imperfecta type IIA2	AKR1C1 AKR1C2 MMP25 TMEM165	1645 1646 55858 64386	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET
DOID:6084	childhood ovarian germ cell tumor Aliases: paediatric Ovarian germ cell neoplasm paediatric ovarian germ cell tumour pediatric Ovarian germ cell neoplasm pediatric ovarian germ cell tumor	PTEN	5728	Homo sapiens (human)	DisGeNET
DOID:0110969	brachydactyly type B1 Aliases: BDB1	PARP1	142	Homo sapiens (human)	DisGeNET
DOID:14239	gastrointestinal tularemia Aliases: Enteric tularemia intestinal tularaemia	MBL2	4153	Homo sapiens (human)	DisGeNET
DOID:0070262	congenital disorder of glycosylation type IIj Aliases: CDG IIj CDG syndrome type IIj CDG2J CDGIIdj COG4-CDG Carbohydrate deficient glycoprotein syndrome type IIj Congenital disorder of glycosylation type 2j	COG4	25839	Homo sapiens (human)	Glyco-Disease Genes Database DisGeNET Alliance of Genome Resources
DOID:2012	Nezelof syndrome Aliases: Nezelof's syndrome T-cell immunodeficiency with thymic aplasia TIDTA thymic aplasia thymic dysplasia with normal immunoglobulins	DGCR2 IL18R1 PNP	4860 8809 9993	Homo sapiens (human)	DisGeNET
DOID:12720	cerebral atherosclerosis	ACE ACHE IMPA1	1636 3612 43	Homo sapiens (human)	DisGeNET DisGeNET
DOID:4131	erythrasma Aliases: Infection due to Corynebacterium minutissimum	CAT	847	Homo sapiens (human)	DisGeNET
DOID:0112321	alacrima, achalasia, and impaired intellectual development syndrome Aliases: AAMR alacrima, achalasia, and mental retardation syndrome	GMPPA	29926	Homo sapiens (human)	Alliance of Genome Resources

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