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 **2426 - 2450** of **7942** in total

« First

‹ Prev

…

94

95

96

97

98

99

100

101

102

…

Next ›

Last »
Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼
DOID:0110822	hereditary spastic paraplegia 77 Aliases: SPG77 autosomal recessive spastic paraplegia 77	B4GALNT1 CYP2B6 CYP2U1 CYP39A1 CYP7B1 FAR1 GBA2 L1CAM MAG PCYT2 PLA2G6 PNPLA6 SELENOI SLC33A1 ST3GAL5	10908 113612 1555 2583 3897 4099 51302 57704 5833 8398 84188 85465 8869 9197 9420	Homo sapiens (human)
DOID:0060911	karyomegalic interstitial nephritis Aliases: KIN KMIN	LIPA	3988	Homo sapiens (human)
DOID:327	syringomyelia	CD38 CNTN2 CYP2U1 ERLEC1 GNPTAB HPRT1 IL18RAP PTGS2 SMUG1 TMTC1	113612 23583 27248 3251 5743 6900 79158 83857 8807 952	Homo sapiens (human)
DOID:0080508	Cornelia de Lange syndrome 4 Aliases: CDLS4 Cornelia De Lange syndrome 4 with or without midline brain defects	EXT1	2131	Homo sapiens (human)
DOID:0080575	Larsen-like syndrome B3GAT3 type Aliases: Larsen-like syndrome, B3GAT3 type multiple joint dislocations-short stature-craniofacial dysmorphism-congenital heart defects syndrome	B3GAT3 B4GALT7 CHST3	11285 26229 9469	Homo sapiens (human)
DOID:0080561	congenital disorder of glycosylation Ii Aliases: congenital disorder of glycosylation 1i	ALG2 COG1 COG4 COG8 MAN1B1 SLC39A8	11253 25839 64116 84342 85365 9382	Homo sapiens (human)
DOID:0111029	hemochromatosis type 1 Aliases: HFE1 symptomatic form of HFE-related hereditary hemochromatosis symptomatic form of classic hemochromatosis symptomatic form of hemochromatosis type 1	ACO1 AKR1B1 AKR1D1 ALDH2 CALR CD14 FADS2 FUT1 FUT2 GNPAT GPC1 GPC3 GPC5 HJV HPGDS ICAM1 LGALS3 PIK3CA PIK3CB PIK3CD PIK3CG PNPLA3 SELE SELL STS SULT1E1 TUSC3 UGT1A1 VCAM1	148738 217 2262 231 2523 2524 2719 27306 2817 3383 3958 412 48 5290 5291 5293 5294 54658 6401 6402 6718 6783 7412 7991 80339 811 8443 929 9415	Homo sapiens (human)
DOID:0110196	Charcot-Marie-Tooth disease type 4G Aliases: CMT4G Charcot-Marie-Tooth neuropathy type 4G HMSNR autosomal recessive Charcot-Marie-Tooth disease type 4G hereditary motor and sensory neuropathy Russe type	ACE AMACR ARSA CANX CAT CD44 CYP4F3 DGAT2 FIG4 GBA1 GPX2 HADHB HK1 HPSE LCAT LPIN1 MAG MTM1 MTMR2 PGK1 PGM1 PLCB4 PLCE1 PRNP PRPS1 PTGS2 SIGLEC7 SPTLC1 SPTLC2	10558 10855 1636 23175 23600 2629 27036 2877 3032 3098 3931 4051 4099 410 4534 51196 5230 5236 5332 5621 5631 5743 821 84649 847 8898 9517 960 9896	Homo sapiens (human)
DOID:0080470	developmental and epileptic encephalopathy 36 Aliases: congenital disorder of glycosylation, type Is early infantile epileptic encephalopathy 36	ALG12 ALG13 ALG3 ALG8 COG6 COG8 DPAGT1 EXT2 ICAM1 MPI PMM2 RFT1 SLC35A2 ST3GAL5 TMEM199	10195 147007 1798 2132 3383 4351 5373 57511 7355 79053 79087 79868 84342 8869 91869	Homo sapiens (human)
DOID:0090089	hypogonadotropic hypogonadism 10 with or without anosmia	ACSM3 ADH5 CD44 CD55 CYP17A1 CYP19A1 GAS1 GK GPC1 HJV HS6ST1 HSD17B3 L1CAM MMUT NT5E PMM2 PNPLA6 SEMA7A SMPD3 SOAT1 STS TYMP	10908 128 148738 1586 1588 1604 1890 2619 2710 2817 3293 3897 412 4594 4907 5373 55512 6296 6646 8482 9394 960	Homo sapiens (human)
DOID:3052	Balkan nephropathy Aliases: Balkan endemic nephropathy DEFN Danubian endemic familial nephropathy	CYP2B6 CYP3A5 HSPG2 IL1R1 LIPA	1555 1577 3339 3554 3988	Homo sapiens (human)
DOID:1849	cannabis dependence	ACE ADH1C CBR1 CD38 CHAT COMT CYP1A2 CYP2B6 CYP2C9 FCGR3B FDFT1 GLUL HPRT1 MGLL NCAM1 PPT1 PTGS2 SULT1E1 XYLT2	1103 11343 126 1312 1544 1555 1559 1636 2215 2222 2752 3251 4684 5538 5743 64132 6783 873 952	Homo sapiens (human)
DOID:2942	bronchiolitis	ATP6AP2 CD14 CD38 FUT2 ICAM1 IL1RL1 ISYNA1 KLRK1 MBL2 PLCG2 PTGDS SFTPA1 SFTPD	10159 22914 2524 3383 4153 51477 5336 5730 6441 653509 9173 929 952	Homo sapiens (human)
DOID:865	vasculitis Aliases: Angiitis	ACE AKR1B1 CALR CD177 CD1D CD22 CLEC6A CLEC7A CMAS CYP1A1 CYP2C19 CYP2C9 ENO1 EXT1 FCGR3B FCN1 ICAM1 MBL2 MICA NT5E PLA2G1B PLB1 SCP2 SMUG1 STS VCAM1	100507436 151056 1543 1557 1559 1636 2023 2131 2215 2219 231 23583 3383 412 4153 4907 5319 55907 57126 6342 64581 7412 811 912 933 93978	Homo sapiens (human)
DOID:3326	purpura Aliases: Purpuric disorder	CALR CAT COMT GLUL LYZ SMUG1	1312 23583 2752 4069 811 847	Homo sapiens (human)
DOID:5052	melioidosis Aliases: Nightcliff gardener's disease Pseudoglanders Whitmore's disease acute and fulminating melioidosis subacute and chronic melioidosis	CALR CD14 HSD17B6 PLAUR SELL STS	412 5329 6402 811 8630 929	Homo sapiens (human)
DOID:0110186	Charcot-Marie-Tooth disease type 4D Aliases: CMT4D Charcot-Marie-Tooth neuropathy type 4D HMSN Lom type HMSN-Lom HMSN4D HMSNL autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4D hereditary motor and sensory neuropathy LOM type	ACE AMACR ARSA CANX CAT CD44 CYP4F3 DGAT2 FIG4 GBA1 GPX2 HADHB HK1 HPSE LCAT LPIN1 MAG MTM1 MTMR2 PGK1 PGM1 PLCB4 PLCE1 PRNP PRPS1 PTGS2 SIGLEC7 SPTLC1 SPTLC2	10558 10855 1636 23175 23600 2629 27036 2877 3032 3098 3931 4051 4099 410 4534 51196 5230 5236 5332 5621 5631 5743 821 84649 847 8898 9517 960 9896	Homo sapiens (human)
DOID:2738	pseudoxanthoma elasticum Aliases: Gronblad-Strandberg syndrome	ACE AKR1B1 ALDH3A2 ALDH7A1 ALOX12B ALPL AMY2B APRT CANX CAT CERS3 DGAT1 EBP ELOVL4 ENPP1 GBA1 GLA GNPTAB GPX1 HPGDS HSD17B6 ICAM1 LPIN2 MPDU1 NCAM1 NT5E PKD1 PLA2G1B PNPLA2 PNPLA6 POGLUT1 PTEN PTGS2 SELE SELL SELP SGPL1 SMUG1 STS SULT2B1 XYLT1 XYLT2	10682 10908 1636 204219 224 231 23583 242 249 2629 2717 27306 280 2876 3383 353 412 4684 4907 501 5167 5310 5319 56983 57104 5728 5743 6401 6402 6403 64131 64132 6785 6820 79158 821 847 8630 8694 8879 9526 9663	Homo sapiens (human)
DOID:0070195	X-linked chronic granulomatous disease Aliases: CDGX X-linked chronic cytochrome b-negative granulomatous disease	CAT CEL G6PD PARP9 PLB1 SLC27A5	1056 10998 151056 2539 83666 847	Homo sapiens (human)
DOID:9820	central gyrate choroidal dystrophy Aliases: Choroidal dystrophy, serpiginous	ACE	1636	Homo sapiens (human)
DOID:8628	Hodgkin's lymphoma, lymphocytic depletion Aliases: Hodgkin lymphoma, lymphocyte depletion Hodgkin's disease, lymphocytic depletion Hodgkin's lymphocytic depletion of unspecified site Lymphocyte-Depleted Classical Hodgkin Lymphoma	ACE ACSBG1 ALG1 ALOX15 ALOX5 ANXA5 B3GAT1 CALR CD14 CD38 CD44 CDH13 CHI3L1 CLEC16A CYP2C9 CYP3A4 ENPP2 FCER2 FCGR3B FUT4 GAPDH GLO1 HABP4 HEXA HJV HPGDS HPSE ICAM1 ISYNA1 KDSR KL KLRK1 LGALS1 LGALS3 LGALS9 LIPC LPL LY6G6D LY75 MBL2 MICA MRC1 MUTYH NAAA NAMPT NCAM1 OGG1 OPCML PAFAH1B1 PC PIK3CA PIK3CB PIK3CD PIK3CG PTEN PTGS2 RENBP SCD SDC1 SELL SIGLEC7 SIRT6 SMUG1 SOAT1 SPHK1 STS TM7SF2 UGT1A1	100507436 1012 10135 10855 1116 148738 1559 1576 1636 2208 2215 22914 22927 23205 23274 23583 240 246 2526 2531 2597 27036 27087 27163 27306 2739 3073 308 3383 3956 3958 3965 3990 4023 4065 412 4153 4360 4595 4684 4968 4978 5048 5091 51477 51548 5168 5290 5291 5293 5294 54658 56052 5728 5743 58530 5973 6319 6382 6402 6646 7108 811 8877 929 9365 952 960	Homo sapiens (human)
DOID:0090017	epidermolysis bullosa simplex with muscular dystrophy Aliases: epidermolysis bullosa simplex and limb-girdle muscular dystrophy limb-girdle muscular dystrophy with epidermolysis bullosa simplex	PLOD3	8985	Homo sapiens (human)
DOID:0110532	autosomal recessive nonsyndromic deafness 86 Aliases: DFNB86 autosomal recessive deafness 86	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:6126	anal canal carcinoma Aliases: anal canal and Perianal gland carcinoma	SMUG1	23583	Homo sapiens (human)
DOID:0110980	Joubert syndrome 1 Aliases: CORS1 CPD4 JBTS1 cerebellooculorenal syndrome 1 cerebelloparenchymal disorder IV	GYS2 INPP5B INPP5E SYNJ1 SYNJ2	2998 3633 56623 8867 8871	Homo sapiens (human)

Table Filtering

GlyTouCan

GlyComb

GlycoPOST

UniCarb-DR

All Resources

Other Information

Tools

Search Tools

International Collaboration

Acknowledgements