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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 **7126 - 7150** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism
DOID:0060050	autoimmune disease of blood	C1galt1	65044	Rattus norvegicus (Norway rat)
DOID:0080560	congenital disorder of glycosylation Ih Aliases: congenital disorder of glycosylation 1h	Alg8	381903	Mus musculus (house mouse)
DOID:14330	Parkinson's disease Aliases: Parkinson disease paralysis agitans	Akt1 Akt2 Gpi Gsk3b Gsto2 Igf2 Lep Ogg1 Parp1 Pgk1 Ppargc1a Prkaa1	24185 24483 24644 25233 25591 25608 292804 309465 65248 81528 83516 84027	Rattus norvegicus (Norway rat)
DOID:0050959	spinocerebellar ataxia type 8	PCYT1A	5130	Homo sapiens (human)
DOID:0080218	primary spontaneous pneumothorax	CERS1	10715	Homo sapiens (human)
DOID:1682	congenital heart disease Aliases: Congenital Heart Defects Congenital anomaly of heart Heart Malformation congenital heart defect heart defect	ABO ACE ALDH2 ALG9 ARSD B3GAT3 CFC1 COG7 DGCR2 EBP ENO1 ENO2 FKRP G6PC3 GALNT1 GCK GPX3 HAS2 HPGDS HYAL2 IDUA LGALS3 NTM OPCML PIGV PIK3CA PIK3CB PIK3CD PKD1 PKD2 PLCB2 PTEN PTGS2 RTN4RL1 SC5D SELP SFTPA1 SFTPA2 SHMT1 SLC2A3 SMUG1 TNFRSF10C WDR5	10682 11091 146760 1636 2023 2026 217 23583 2589 26229 2645 27306 28 2878 3037 3425 3958 414 4978 50863 5290 5291 5293 5310 5311 5330 55650 55997 5728 5743 6309 6403 6470 6515 653509 729238 79147 79796 8692 8794 91949 92579 9993	Homo sapiens (human)
DOID:3151	skin squamous cell carcinoma Aliases: Epidermoid skin carcinoma	AKR1C3 APRT CD44 CD55 CDH13 CYP21A2 FUT1 GLB1 HPGDS HSD11B2 INPP5A MMUT NCAM1 PIK3CA PIK3CB PIK3CD PIK3CG PTEN PTGDS PTGS2 SDC1 SDC2 SIRT6 SMUG1 SOAT1 SPHK2 ST3GAL1 STT3A	1012 1589 1604 23583 2523 2720 27306 3291 353 3632 3703 4594 4684 51548 5290 5291 5293 5294 56848 5728 5730 5743 6382 6383 6482 6646 8644 960	Homo sapiens (human)
DOID:0060581	Noonan syndrome 3 Aliases: NS3	ACADS AMT ARSA ARSD B4GALT7 BAAT CAT CHPT1 CYP11A1 DAG1 DCN DHDDS FOLR1 GALNT14 GAPDH GCSH GLB1 GLDC GPI HSPG2 KL OGG1 PARP1 PGAM2 PIK3CA PIK3CB PIK3CD PIK3CG PRNP PTEN SGPL1 SMC3 STS TNKS XYLT2	11285 142 1583 1605 1634 2348 2597 2653 2720 2731 275 2821 3339 35 410 412 414 4968 5224 5290 5291 5293 5294 5621 56994 570 5728 64132 79623 79947 847 8658 8879 9126 9365	Homo sapiens (human)
DOID:0050588	muscular dystrophy-dystroglycanopathy type B1 Aliases: CMD due to dystroglycanopathy Muscular dystrophy-dystroglycanopathy congenital with impaired intellectual development B1	B4gat1 Fkrp Fktn Large1 Pomgnt1 Pomt1	108902 16795 243853 246179 68273 99011	Mus musculus (house mouse)
DOID:2394	ovarian cancer Aliases: malignant Ovarian tumor malignant tumour of ovary ovarian neoplasm ovary neoplasm primary ovarian cancer tumor of the Ovary	akt1.S	399170	Xenopus laevis (African clawed frog)
DOID:14330	Parkinson's disease Aliases: Parkinson disease paralysis agitans	Akt1 Akt2 Gba1 Gpi1 Gsk3b Gsto1 Gsto2 Igf2 Lep Mapk14 Ogg1 Pgk1 Pgk2 Ppargc1a Prkaa1	105787 11651 11652 14466 14751 14873 16002 16846 18294 18655 18663 19017 26416 56637 68214	Mus musculus (house mouse)
DOID:0060257	dyschromatosis symmetrica hereditaria Aliases: reticulate acropigmentation of Dohi	ACE ARSH	1636 347527	Homo sapiens (human)
DOID:5815	cerebral lymphoma Aliases: brain primary lymphoma primary Lymphoma of Cerebrum primary cerebral lymphoma	SMUG1	23583	Homo sapiens (human)
DOID:0070433	hyperphosphatasia with impaired intellectual development syndrome 1 Aliases: GPIBD2 HPMRS1 glycosylphosphatidylinositol biosynthesis defect 2 hyperphosphatasia with mental retardation syndrome 1	pigv	100148642	Danio rerio (zebrafish)
DOID:9854	lingual-facial-buccal dyskinesia Aliases: Oro-facial dyskinesia	ACE ACHE ACO2 AGA ALDH5A1 ALDH7A1 ATP6V1A B3GALNT2 B4GALNT1 COMT CYB5R3 CYP17A1 CYP1A2 CYP21A2 CYP2B6 CYP3A4 CYP3A5 CYP4F3 DHCR7 DHDDS ECHS1 FOLR2 G6PD GAD1 GBA1 GCDH GFRA2 GLUL GPX1 HEXA HEXD HPGDS HPRT1 HSPG2 INPP5K LMAN2L MAN1B1 MAN2B1 MBOAT7 MECR MYORG NDST1 NGLY1 NTNG1 OGA OGDH PAFAH1B1 PDHA1 PGAP1 PGAP3 PGP PIGC PIGN PIGP PIGQ PIK3CA PIP4K2A PIP4K2C PLB1 PMM2 PPT1 PRNP PSAP PTEN RENBP SGSH SLC26A2 SLC2A3 SLC35A1 ST3GAL3 ST3GAL5 SUCLA2 SYNJ1 TECR TPI1 TUSC3	10559 10724 11253 1312 148789 151056 1544 1555 1576 1577 1586 1589 1636 1717 1727 175 1836 1892 22854 2350 23556 2539 2571 2583 2629 2639 2675 27306 2752 283871 284004 2876 3073 3251 3339 3340 4051 4125 43 4967 50 501 5048 51102 51227 5160 51763 523 5279 5290 5305 5373 5538 55768 5621 5660 5728 57462 5973 6448 6487 6515 7167 79143 7915 79837 7991 79947 80055 81562 8803 8867 8869 9091 93210 9524	Homo sapiens (human)
DOID:0080693	Noonan syndrome-like disorder with loose anagen hair 2	Ppp1cb	25594	Rattus norvegicus (Norway rat)
DOID:11252	microcytic anemia	ACO1 BDH2 CACNA2D3 CAT CD55 HJV IDUA LALBA LPIN2 PLA2G4A PLA2G6 SMPD1 SRD5A3	148738 1604 3425 3906 48 5321 55799 56898 6609 79644 8398 847 9663	Homo sapiens (human)
DOID:9409	diabetes insipidus	has2	260350	Danio rerio (zebrafish)
DOID:0080561	congenital disorder of glycosylation Ii Aliases: congenital disorder of glycosylation 1i	Alg2	56737	Mus musculus (house mouse)
DOID:0110555	autosomal dominant nonsyndromic deafness 25 Aliases: DFNA25 autosomal dominant deafness 25	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:3213	demyelinating disease Aliases: demyelinating disorder	Myc	17869	Mus musculus (house mouse)
DOID:0090065	familial cold autoinflammatory syndrome 4	HPSE PLCG2	10855 5336	Homo sapiens (human)
DOID:2129	atypical teratoid rhabdoid tumor Aliases: Atypical teratoid/rhabdoid tumor Atypical teratoid/rhabdoid tumour Rhabdoid tumor of the CNS Rhabdoid tumour of the CNS atypical teratoid rhabdoid tumour	ACACA CNTN2 GPC3 PIK3CA PIK3CB PIK3CD PIK3CG PTGS2 SMUG1	23583 2719 31 5290 5291 5293 5294 5743 6900	Homo sapiens (human)
DOID:8677	perinatal necrotizing enterocolitis Aliases: ENTEROCOLITIS NECROTIZING Necrotizing enterocolitis in fetus OR newborn Perinatal necrotising enterocolitis Pseudomembranous enterocolitis in newborn necrotizing enterocolitis	ABO ACACB ACADM ACE AKR1A1 ALDH2 CAT CD14 CRYL1 ENO1 FCN1 GM2A ICAM1 LGALS2 MBL2 NCAM1 PARP1 PIK3CA PIK3CB PIK3CD PIK3CG PLAUR PTGS2 SELE SELL SFTPC SORD TLR1 TLR2 TLR4 TLR6 TNF	10327 10333 142 1636 2023 217 2219 2760 28 32 3383 34 3957 4153 4684 51084 5290 5291 5293 5294 5329 5743 6401 6402 6440 6652 7096 7097 7099 7124 847 929	Homo sapiens (human)
DOID:0050433	fatal familial insomnia	CHI3L1 MDH1 PRNP	1116 4190 5621	Homo sapiens (human)

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