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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 **5776 - 5800** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼
DOID:10575	calcium metabolism disease	AGXT ALPL ALPP ATRNL1 CD44 CYP24A1 CYP27B1 CYP2R1 ENPP1 GALNT3 GRHPR HOGA1 HSD11B2 KL OCRL PIGT PTGS2 SLC3A1 SLC5A1 STS	112817 120227 1591 1594 189 249 250 2591 26033 3291 412 4952 51604 5167 5743 6519 6523 9365 9380 960	Homo sapiens (human)
DOID:0110737	neurodegeneration with brain iron accumulation 3 Aliases: Adult basal ganglia disease Ferritin-related neurodegeneration Hereditary ferritinopathy NBIA3 Neuroferritinopathy Neuroferritinopathy; Basal Ganglia Disease, Adult-Onset	AKR1B10 PLA2G1B PLA2G6 PLB1	151056 5319 57016 8398	Homo sapiens (human)
DOID:0070436	hyperphosphatasia with impaired intellectual development syndrome 4 Aliases: GPIBD62 HPMRS6 glycosylphosphatidylinositol biosynthesis defect 62 hyperphosphatasia with mental retardation syndrome 6	PGAP3	93210	Homo sapiens (human)
DOID:0060869	late-onset retinal degeneration Aliases: LORD autosomal dominant late-onset retinal degeneration	HKDC1	80201	Homo sapiens (human)
DOID:13381	pernicious anemia Aliases: ANEMIA PERNICIOUS Addison's anaemia Biermer's anaemia Biermer's anemia pernicious anaemia	FUT6 GAD2	2528 2572	Homo sapiens (human)
DOID:0060263	porencephaly	COLGALT1	79709	Homo sapiens (human)
DOID:12841	ancylostomiasis	CHIT1	1118	Homo sapiens (human)
DOID:0050814	temtamy preaxial brachydactyly syndrome Aliases: PREAXIAL BRACHYDACTYLY SYNDROME, TEMTAMY TYPE	CHSY1 TGDS	22856 23483	Homo sapiens (human)
DOID:0060256	Dowling-Degos disease Aliases: dark dot disease reticular pigment anomaly of flexures	ACAN COL9A2 COMT POFUT1 POGLUT1	1298 1312 176 23509 56983	Homo sapiens (human)
DOID:2533	splenic infarction Aliases: Splenic infarct	CYP1A2 SMPD1	1544 6609	Homo sapiens (human)
DOID:0060183	collagenous colitis	CHGA PTEN	1113 5728	Homo sapiens (human)
DOID:0090042	torsion dystonia 17	ALDH5A1	7915	Homo sapiens (human)
DOID:0110759	type 1 diabetes mellitus 22 Aliases: IDDM22 Insulin-Dependent Diabetes Mellitus 22	ABO ACAN ACE ACOT7 ACSL1 ADH5 AGA AGPAT1 AKR1A1 AKR1B1 ALDH2 ALDH3A2 ALOX12 ALOX15B ALOX5 AMY2A ANXA5 APRT B3GAT1 B4GALNT1 B4GALT1 BAAT CAT CBR1 CD14 CD1D CD209 CD38 CD44 CD48 CD74 CDH13 CEACAM5 CEPT1 CHAT CHST3 CLEC16A CSGALNACT1 CYP21A2 CYP24A1 CYP27A1 CYP27B1 CYP2E1 CYP2R1 CYP7A1 DCN DDOST DGCR2 DHCR7 DLAT EFNA1 ENO2 ENPP1 FASN FCER2 FCGR3B FCN2 FKRP FUT2 G6PC1 G6PC2 G6PD GAD1 GAD2 GAL3ST1 GALNT3 GBA3 GCK GLA GLB1 GLO1 GLUL GPI GPX1 GPX3 GYS1 HK1 HK2 HMGCS2 HPGDS HPRT1 HPSE2 HPSE HSD11B1 HSD11B2 HSD17B4 HSPG2 ICAM1 IGF2R IL18R1 IL18RAP IL1R1 IL1RL1 INPP5D INPPL1 IPPK ISYNA1 KL KLRC3 KLRD1 LDHC LGALS1 LGALS3 LIPC LPL LY6G6D LYPD5 MASP2 MBL2 MGAT1 MGAT5 MICA MIOX NAAA NAMPT NCAM1 OGA PARP1 PDHX PFKFB3 PGM1 PGP PIK3CA PIK3CB PIK3CD PIK3CG PIP4K2C PLA2G6 PLA2G7 PNPLA3 PRKAA2 PRKCSH PTEN PTGS2 REG1B RENBP SCD SDC2 SELE SELL SELP SIRT2 SIRT6 SLC2A12 SLC2A2 SLC2A3 SLC2A4 SLC2A8 SLC35A1 SLC35G1 SLC37A4 SLC5A1 SOAT1 ST3GAL4 SULT1E1 TKT TM7SF2 UGT1A1 UMOD VCAM1 VCAN VTCN1 XYLT1 XYLT2	100507436 1012 10135 10327 10390 1048 10554 10559 10724 10747 10855 1103 11332 120227 128 142 1462 154091 1571 1581 1589 1591 1593 159371 1594 1634 1636 1650 1717 1737 175 176 1942 2026 217 2180 2194 2208 2215 2220 224 22933 231 23274 239 240 247 2524 2538 2539 2542 2571 2572 2583 2591 2645 2683 27087 27163 2717 2720 27306 2739 2752 279 28 2821 283871 284348 2876 2878 2997 29988 308 30835 3098 3099 3158 3251 3290 3291 3295 3339 3383 3482 353 3554 3635 3636 3823 3824 3948 3956 3958 3990 4023 4153 4245 4249 4684 51477 51548 5167 5209 5236 5290 5291 5293 5294 54658 55586 5563 55790 5589 570 5728 5743 57733 57818 58530 5968 5973 60495 6319 6383 6401 6402 6403 64131 64132 64768 6484 6514 6515 6517 6523 6646 6783 7086 7108 7369 7412 79147 7941 79679 79837 80339 8050 8398 847 873 8807 8809 912 9173 929 9365 9469 9514 952 960 962 972 9993	Homo sapiens (human)
DOID:0060194	amyotrophic lateral sclerosis type 2 Aliases: ALS2 amyotrophic lateral sclerosis 2 amyotrophic lateral sclerosis 2, juvenile	ACHE APRT ASAH1 CAT CLEC10A FCN2 FIG4 GFRA1 HEXB HK2 NT5E OGA PNPLA6 SARM1 TIGAR TMED9	10462 10724 10908 2220 23098 2674 3074 3099 353 427 43 4907 54732 57103 847 9896	Homo sapiens (human)
DOID:0112300	spondylometaphyseal dysplasia with cone-rod dystrophy Aliases: SMD-CRD SMDCRD spondylometaphyseal dysplasia-cone-rod dystrophy syndrome	PCYT1A	5130	Homo sapiens (human)
DOID:3405	histiocytosis Aliases: Hand Schuller Christian disease chronic Histiocytosis X	HPRT1 PPT2 PTGS1	3251 5742 9374	Homo sapiens (human)
DOID:3265	chronic granulomatous disease Aliases: Bridges-Good syndrome CGD Congenital dysphagocytosis Quie syndrome	CAT CEL CYP27B1 EFNA2 G6PD MGAT2 PARP9 PIK3CD PLB1 PMM2 SLC27A5 SLC35A2	1056 10998 151056 1594 1943 2539 4247 5293 5373 7355 83666 847	Homo sapiens (human)
DOID:0060340	ciliopathy	PKD2	5311	Homo sapiens (human)
DOID:2211	factor XIII deficiency Aliases: Factor XIII deficiency disease Hereditary factor XIII deficiency disease deficiency, Laki-Lorand factor	LMAN1	3998	Homo sapiens (human)
DOID:10966	lipoid nephrosis Aliases: Minimal Change Glomerulonephritis Minimal change disease Nephrotic syndrome with lesion of minimal change glomerulonephritis Nephrotic syndrome with lesion of minimal change nephrotic syndrome	ACAT1 ACE ALOX5 CALR CHST14 CNTN1 CYP2C19 CYP3A4 CYP3A5 DGAT1 DGKE EXT1 FCGR3B GLA GLO1 GPAM GPC3 GPC5 HPGDS HPSE HSD11B2 HSPG2 IL1R1 KL LCAT LGALS1 LIPC LTA4H LYZ MLYCD NAGLU OGA PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PLA2G7 PLA2R1 PLB1 PLCE1 PLCG2 PMM2 PTGS2 SDC1 SDC2 SGPL1 SLC17A5 STS TREH VCAM1	10724 10855 11181 113189 1272 151056 1557 1576 1577 1636 2131 2215 2262 22925 23417 240 26503 2717 2719 27306 2739 3291 3339 3554 38 3931 3956 3990 4048 4069 412 4669 51196 5290 5291 5293 5294 5310 5336 5373 5743 57678 6382 6383 7412 7941 811 8526 8694 8879 9365	Homo sapiens (human)
DOID:11503	diabetic autonomic neuropathy	ACE ACSL1 AKR1B1 CAT ENO2 GLO1 GPX1 PARP1 PMM2 PNPLA6 PTEN PTGS2 RENBP SMPD1 ST3GAL4 TKT	10908 142 1636 2026 2180 231 2739 2876 5373 5728 5743 5973 6484 6609 7086 847	Homo sapiens (human)
DOID:13902	white piedra Aliases: Tinea blanca	ABO ATP6V1A CAT CD14 CD209 CLEC1A CLEC7A CYP2C19 CYP51A1 LGALS1 MBL2 MRC1	1557 1595 28 30835 3956 4153 4360 51267 523 64581 847 929	Homo sapiens (human)
DOID:0060854	autosomal recessive pseudohypoaldosteronism type 1 Aliases: PHA1B autosomal recessive PHA 1	MRC1	4360	Homo sapiens (human)
DOID:0110574	autosomal dominant nonsyndromic deafness 4B Aliases: DFNA4B autosomal dominant deafness 4B	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:0111898	CK syndrome Aliases: X-linked intellectual disability-microcephaly-cortical malformation-thin habitus syndrome	NSDHL	50814	Homo sapiens (human)

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