GlyCosmos Portal

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Alliance of Genome Resources	July 29, 2024
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **4351 - 4375** of **4621** in total

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Disease ID	Disease Name ▼	Gene Symbol	Gene ID	Organism
DOID:13636	Fanconi anemia Aliases: Fanconi anaemia Fanconi pancytopenia Fanconi panmyelopathy Fanconi's anaemia Fanconi's anemia	ADH5 ALDH2 ANXA7 CAT CD33 CD38 CD44 CD48 CTNS CYP11A1 CYP2B6 ELOVL6 ENO1 FUT1 GCK HPGDS HPRT1 ICAM1 LPL ME1 MRC1 NCAM1 NEIL1 NEIL3 NTHL1 OCRL PARP1 PFKFB3 PRKAA2 PTEN SOAT1 TIGAR TNF VCAM1	128 142 1497 1555 1583 2023 217 2523 2645 27306 310 3251 3383 4023 4199 4360 4684 4913 4952 5209 55247 5563 57103 5728 6646 7124 7412 79071 79661 847 945 952 960 962	Homo sapiens (human)
DOID:0111083	Fanconi anemia complementation group D2 Aliases: FA4 FAD2 FANCD2 Fanconi pancytopenia type 4	FUT1 NTHL1	2523 4913	Homo sapiens (human)
DOID:0111087	Fanconi anemia complementation group C Aliases: FA3 FACC FANCC Fanconi pancytopenia type 3	GCK	2645	Homo sapiens (human)
DOID:0111095	Fanconi anemia complementation group A Aliases: FANCA	ALDH2 ANXA7 CAT CD33 CD44 CD48 CYP2B6 ELOVL6 FUT1 HPGDS HPRT1 ICAM1 LPL ME1 MRC1 NCAM1 NEIL1 PARP1 PFKFB3 PRKAA2 PTEN SOAT1 TIGAR VCAM1	142 1555 217 2523 27306 310 3251 3383 4023 4199 4360 4684 5209 5563 57103 5728 6646 7412 79071 79661 847 945 960 962	Homo sapiens (human)
DOID:14499	Fabry disease Aliases: Alpha-galactosidase A deficiency Angiokeratoma Corporis Diffusum Fabry Disease, Cardiac Variant Fabry's disease alpha galactosidase deficiency deficiency of melibiase	ACE AGA ARSA ARSB ASAH1 CHIT1 CTSA CYP27A1 FADS2 G6PC1 G6PD GAA GALC GBA1 GBE1 GDPD3 GLA GLB1 GNPTAB GNPTG GUSB ICAM1 IDS IDUA LGALS3 LPL LSS MANBA MGAM NAGA NAGPA NT5E OGA PTGDS SCD SELE SFTPD SI SLC2A3 SMPD1 SMUG1 UGCG UGT1A1 UMOD VCAM1	10724 1118 1593 1636 175 23583 2538 2539 2548 2581 2629 2632 2717 2720 2990 3383 3423 3425 3958 4023 4047 410 411 4126 427 4668 4907 51172 54658 5476 5730 6319 6401 6441 6476 6515 6609 7357 7369 7412 79153 79158 84572 8972 9415	Homo sapiens (human)
DOID:3369	Ewing sarcoma Aliases: Ewing's family localized tumor Ewing's sarcoma/peripheral primitive neuroectodermal tumor Ewing's tumor Ewings sarcoma Ewings sarcoma-primitive neuroectodermal tumor PNET of Thoracopulmonary Region localized Ewing sarcoma localized Ewing's sarcoma localized Ewing's sarcoma/peripheral primitive neuroectodermal tumor localized Ewing's tumor localized peripheral primitive neuroectodermal tumor peripheral primitive neuroectodermal tumor	ABO ACSS2 AMACR ASAH1 B3GAT1 CD248 CD38 CEACAM5 CHGA CYP2C8 ENO2 GAPDH HMMR HPRT1 KLRK1 LDHA MRC1 MTAP NAMPT NCAM1 NPL PAFAH1B1 PARP1 PGP PIK3CA PIK3CB PIK3CD PIK3CG PLA2G15 PTEN PTGS2 SMUG1 XYLT2	10135 1048 1113 142 1558 2026 22914 23583 23600 23659 2597 27087 28 283871 3161 3251 3939 427 4360 4507 4684 5048 5290 5291 5293 5294 55902 57124 5728 5743 64132 80896 952	Homo sapiens (human)
DOID:3368	Ewing sarcoma of bone Aliases: Ewing's sarcoma/bone peripheral primitive neuroectodermal tumor bone Ewing sarcoma bone localized Ewing sarcoma bone localized Ewing's sarcoma localized Skeletal Ewing's sarcoma	NEU1 SMUG1	23583 4758	Homo sapiens (human)
DOID:8931	Evans' syndrome	ABO ACSBG1 CD38 CD44 CD72 CLEC1B FCGR3B FCN2 GALC HPSE2 HPSE IL1R1 KLRD1 LGALS9 MBD4 MBL2 MICA MRC1 NCAM1 PNP PTEN PTGS1 PTGS2 SELE SELP SMPD1 STS VNN1	100507436 10855 2215 2220 23205 2581 28 3554 3824 3965 412 4153 4360 4684 4860 51266 5728 5742 5743 60495 6401 6403 6609 8876 8930 952 960 971	Homo sapiens (human)
DOID:4329	Erdheim-Chester disease	ASAH1 PIK3CA PIK3CB PIK3CD PIK3CG SMUG1	23583 427 5290 5291 5293 5294	Homo sapiens (human)
DOID:2938	Epstein-Barr virus infectious disease Aliases: EBV Infection Epstein-Barr virus infection	PTEN	5728	Homo sapiens (human)
DOID:11726	Emery-Dreifuss muscular dystrophy Aliases: EDMD	G6PD	2539	Homo sapiens (human)
DOID:5050	Ehrlich tumor carcinoma Aliases: Ehrlich tumour carcinoma Ehrlich's tumor Ehrlich's tumour	DHDDS HACD1	79947 9200	Homo sapiens (human)
DOID:13359	Ehlers-Danlos syndrome Aliases: Cutis hyperelastica elastic skin	ACAN ALPL ATP6V0A2 B3GALT4 B3GALT6 B4GALT7 BAAT CD38 CD44 CHST14 COL9A2 CYP21A2 CYP27B1 CYP2R1 DCN DSE ENPP1 FAM20B MTAP OCRL PAPSS2 PNPLA2 PTGS2 SMPD3 XYLT1	11285 113189 120227 126792 1298 1589 1594 1634 176 23545 249 29940 4507 4952 5167 55512 570 57104 5743 64131 8705 9060 952 960 9917	Homo sapiens (human)
DOID:0050802	Ehlers-Danlos syndrome spondylodysplastic type 2 Aliases: EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 2 Ehlers-Danlos syndrome progeroid type	B3GALT6 B4GALT7 DCN HSPG2 PRG2 VCAN	11285 126792 1462 1634 3339 5553	Homo sapiens (human)
DOID:0080738	Ehlers-Danlos syndrome spondylodysplastic type 1	B4GALT7	11285	Homo sapiens (human)
DOID:0080737	Ehlers-Danlos syndrome musculocontractural type 2	DSE	29940	Homo sapiens (human)
DOID:0080736	Ehlers-Danlos syndrome musculocontractural type 1	CHST14	113189	Homo sapiens (human)
DOID:14757	Ehlers-Danlos syndrome hypermobility type Aliases: Ehlers-Danlos syndrome, type 3 type III Ehlers-Danlos syndrome	CYP21A2	1589	Homo sapiens (human)
DOID:1085	Edwards syndrome Aliases: Complete trisomy 18 syndrome E3 Trisomy trisomy 18	CD38 FUT1	2523 952	Homo sapiens (human)
DOID:4325	Ebola hemorrhagic fever Aliases: Ebola virus disease	ANXA5 BST2 CD209 CLEC10A CLEC4G DAG1 DPAGT1 FOLR2 GNPTAB GP2 LGALS1 SFTPD SIGLEC1 TPI1	10462 1605 1798 2350 2813 308 30835 339390 3956 6441 6614 684 7167 79158	Homo sapiens (human)
DOID:0060782	EEC syndrome Aliases: Rudiger syndrome 1 Walker-Clodius syndrome ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome ectrodactyly-ectodermal dysplasia-clefting syndrome	ENO1 LCT MRC1 PIK3CA PIK3CB PIK3CD PIK3CG PTEN	2023 3938 4360 5290 5291 5293 5294 5728	Homo sapiens (human)
DOID:0060484	EAST syndrome Aliases: SeSAME syndrome epilepsy, ataxia, sensorineural deafness and tubulopathy seizures, sensorineural deafness, ataxia, mental retardation and electrolyte imbalance	PI4KB	5298	Homo sapiens (human)
DOID:0111167	Dyggve-Melchior-Clausen disease Aliases: DMC disease pseudo-Morquio disease type I	PTGS2	5743	Homo sapiens (human)
DOID:11723	Duchenne muscular dystrophy Aliases: Muscular dystrophy, Duchenne	ACE ACHE ACOT7 ACSL4 AGL ALDH7A1 ALOX12 ALPP APRT ATRNL1 B3GALNT2 B4GALNT2 B4GAT1 CD38 CHKA CHKB CRPPA DAG1 DCN DPEP1 DPM1 DPM2 DPM3 ENO1 FKRP FKTN G6PD GAA GK GLB1 GMPPB GPC1 GPX3 HJV HPGDS HPRT1 HSPG2 IDH2 IGF2R IL1RL1 IMPA1 INPP5B INPP5K KL LARGE1 LARGE2 LGALS1 LGALS3 LIPG MBL2 MGAM MRC1 PARP1 PIK3C2A PKD1 PLA2G6 PMM2 POGLUT1 POMGNT1 POMGNT2 POMK POMT1 POMT2 PRG2 PRKAA2 RGN RXYLT1 SDC2 SDC3 SI ST8SIA4 SYNJ1 SYNJ2 TM7SF2 VCAM1 VCAN XYLT1	10329 10585 11041 1119 1120 11332 120071 124872 142 1462 148738 148789 1605 1634 1636 178 1800 2023 2182 2218 239 250 2539 2548 26033 2710 2720 27306 2817 2878 29925 29954 3251 3339 3418 3482 353 3612 3633 3956 3958 4153 43 4360 501 51763 5286 5310 5373 54344 5553 55624 5563 56983 6383 64131 6476 7108 729920 7412 7903 79147 8398 84197 84892 8813 8818 8867 8871 8972 9104 9173 9215 9365 9388 952 9672	Homo sapiens (human)
DOID:14796	Dubowitz syndrome Aliases: Dubowitz's syndrome	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)

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