GlyCosmos Portal

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

Displaying entries **2326 - 2350** of **4621** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▼	Organism
DOID:3302	chordoma Aliases: notochordoma	ACAN CBR1 CSPG4 FCGR3B IDH1 LGALS9 PARP1 PIK3CA PIK3CB PIK3CD PIK3CG PTEN SIGLEC7	142 1464 176 2215 27036 3417 3965 5290 5291 5293 5294 5728 873	Homo sapiens (human)
DOID:1967	leiomyosarcoma Aliases: Leiomyosarcomas	ACSL4 DHCR24 DPEP1 FASN FCGR3B FH GGT1 HMMR IL1R1 MRC1 PARP1 PIK3CA PIK3CB PIK3CD PIK3CG PNPLA2 PTEN PTGS2 SLC33A1 SMUG1 VCAN	142 1462 1718 1800 2182 2194 2215 2271 23583 2678 3161 3554 4360 5290 5291 5293 5294 57104 5728 5743 9197	Homo sapiens (human)
DOID:5268	myxoid leiomyosarcoma	ACSL4 DHCR24 DPEP1 FASN FCGR3B FH GGT1 HMMR IL1R1 MRC1 PARP1 PIK3CA PIK3CB PIK3CD PIK3CG PNPLA2 PTEN PTGS2 SLC33A1 SMUG1 VCAN	142 1462 1718 1800 2182 2194 2215 2271 23583 2678 3161 3554 4360 5290 5291 5293 5294 57104 5728 5743 9197	Homo sapiens (human)
DOID:5264	epithelioid leiomyosarcoma	ACSL4 DHCR24 DPEP1 FASN FCGR3B FH GGT1 HMMR IL1R1 MRC1 PARP1 PIK3CA PIK3CB PIK3CD PIK3CG PNPLA2 PTEN PTGS2 SLC33A1 SMUG1 VCAN	142 1462 1718 1800 2182 2194 2215 2271 23583 2678 3161 3554 4360 5290 5291 5293 5294 57104 5728 5743 9197	Homo sapiens (human)
DOID:9953	acute biphenotypic leukemia Aliases: mixed phenotype acute leukemia	ABO ACE CALR CD14 CD22 CD33 CD38 CD55 CRYL1 CYP1A1 CYP2B6 CYP3A4 CYP3A5 FUT4 HACD1 HPGDS HPRT1 HPSE2 IDH1 IDH2 IDUA INPP5D LGALS1 NAAA NCAM1 OGG1 PARP1 PIGL PIK3CA PIK3CB PIK3CD PIK3CG PLA2R1 SELE SIGLEC7 SMUG1 SOAT1 STS UNG VCAN XYLT2	142 1462 1543 1555 1576 1577 1604 1636 22925 23583 2526 27036 27163 27306 28 3251 3417 3418 3425 3635 3956 412 4684 4968 51084 5290 5291 5293 5294 60495 6401 64132 6646 7374 811 9200 929 933 945 9487 952	Homo sapiens (human)
DOID:10941	intracranial aneurysm Aliases: brain aneurysm	ACE ACSM3 ATP6V0A2 CBR1 CD14 CYP2C19 GBA1 HSPG2 LGALS9 NTM PARP1 PCYT1A PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PKD2 PTEN PTGES PTGS2 SELE SLC35F3 TM7SF2 TNF VCAM1 VCAN	142 1462 148641 1557 1636 23545 2629 3339 3965 50863 5130 5290 5291 5293 5294 5310 5311 5728 5743 6296 6401 7108 7124 7412 873 929 9536	Homo sapiens (human)
DOID:0070329	mitochondrial DNA depletion syndrome Aliases: mtDNA depletion syndrome	ACO2 CD44 CS DGKB DGKE PARP1 PIK3CA PIK3CB PIK3CD PIK3CG SLC25A10 SUCLA2 SUCLG1	142 1431 1468 1607 50 5290 5291 5293 5294 8526 8802 8803 960	Homo sapiens (human)
DOID:0060473	Kabuki syndrome Aliases: KMS Kabuki make up syndrome Niikawa-Kuroki syndrome	MACROD2	140733	Homo sapiens (human)
DOID:14042	bipolar I disorder	CACNA2D2 FADS1 FADS2 MACROD2 NCAN PARP10	140733 1463 3992 84875 9254 9415	Homo sapiens (human)
DOID:0111141	delayed sleep phase syndrome Aliases: DSPD	CRY1	1407	Homo sapiens (human)
DOID:14261	fragile X syndrome Aliases: FRAGILE X MENTAL RETARDATION SYNDROME MARKER X SYNDROME MARTIN-BELL SYNDROME	ALPI ALPP APRT ARSD CAT CD44 DGKK DLD G6PD HSPG2 ICAM5 IDS INPP5K LGALS4 PGD PIK3CA PIK3CB PIK3CD PIK3CG PLCG1 PTEN SDC2 ST8SIA4	139189 1738 248 250 2539 3339 3423 353 3960 414 51763 5226 5290 5291 5293 5294 5335 5728 6383 7087 7903 847 960	Homo sapiens (human)
DOID:9138	stomach carcinoma in situ Aliases: carcinoma in situ of stomach gastric carcinoma in situ	MUTYH PIK3CA PIP5KL1	138429 4595 5290	Homo sapiens (human)
DOID:0110389	retinitis pigmentosa 73 Aliases: RP73	HGSNAT	138050	Homo sapiens (human)
DOID:0111402	mucopolysaccharidosis type IIID Aliases: GNS deficiency MPS IIID MPS3D Mucopolysaccharidosis type 3D N-acetylglucosamine-6-sulfatase deficiency Sanfilippo syndrome D Sanfilippo syndrome type D	GNS HGSNAT NAGLU SGSH	138050 2799 4669 6448	Homo sapiens (human)
DOID:0111394	mucopolysaccharidosis type IIIB Aliases: MPS3B MPSIIIB Mucopoly-saccharidosis type 3B Mucopolysaccharidosis type 3B N-acetyl-alpha-glucosaminidase deficiency NAGLU deficiency Sanfilippo syndrome type B mucopolysaccharidosis type IIIB (Sanfilippo B)	GNS HGSNAT IDUA NAGLU NAGPA SGSH	138050 2799 3425 4669 51172 6448	Homo sapiens (human)
DOID:0110870	congenital stationary night blindness 1A Aliases: CSNB1A NBMI complete CSNB X-linked congenital stationary night blindness 1A X-linked congenital stationary night blindness with myopia hemeralopia-myopia myopia-night blindness	ARSG CA4 CACNA2D4 COG4 ELOVL4 HADHA HGSNAT HK1 HSD3B7 NYX PCYT1A POMGNT1	138050 22901 25839 3030 3098 5130 55624 60506 6785 762 80270 93589	Homo sapiens (human)
DOID:8499	night blindness Aliases: nyctalopia	ARSG CA4 CACNA2D4 COG4 ELOVL4 HADHA HGSNAT HK1 HSD3B7 NYX PCYT1A POMGNT1	138050 22901 25839 3030 3098 5130 55624 60506 6785 762 80270 93589	Homo sapiens (human)
DOID:0050534	congenital stationary night blindness Aliases: congenital essential nyctalopia	ARSG CA4 CACNA2D4 COG4 ELOVL4 HADHA HGSNAT HK1 HSD3B7 NYX PCYT1A POMGNT1	138050 22901 25839 3030 3098 5130 55624 60506 6785 762 80270 93589	Homo sapiens (human)
DOID:0111393	mucopolysaccharidosis type IIIC Aliases: Acetyl-CoA alpha-glucosaminide acetyltransferase deficiency HGSNAT deficiency Heparan-alpha-glucosaminide N-acetyltransferase deficiency MPS3C MPSIIIC Mucopolysaccharidosis type 3C Sanfilippo syndrome type C mucopolysaccharidosis type IIIC (Sanfilippo C)	EXTL2 EXTL3 GNS HGSNAT NAGLU SGSH	138050 2135 2137 2799 4669 6448	Homo sapiens (human)
DOID:14464	neuroleptic malignant syndrome	CPT2 PIK3C2A RENBP	1376 5286 5973	Homo sapiens (human)
DOID:0080108	myoglobinuria	CPT2 HADH HADHA HADHB LDHA LPIN1 LPIN2 LPIN3 PGAM2 PGK1 PYGM	1376 23175 3030 3032 3033 3939 5224 5230 5837 64900 9663	Homo sapiens (human)
DOID:0080000	muscular disease	ACACA ACACB CPT2 FASN LPL	1376 2194 31 32 4023	Homo sapiens (human)
DOID:2746	glycogen storage disease V Aliases: Glycogen storage disease 5 Glycogen storage disease, type V McArdle's disease glycogen storage disease type V myophosphorylase deficiency	ACE APRT CPT2 PGM1 PYGL PYGM SLC2A4	1376 1636 353 5236 5836 5837 6517	Homo sapiens (human)
DOID:4724	brain edema Aliases: intracranial swelling wet brain	ACADM BCKDHA BCKDHB CPT2 DBT ICAM1	1376 1629 3383 34 593 594	Homo sapiens (human)
DOID:7327	pseudosarcomatous fibromatosis Aliases: Fasciitis - nodular Pseudosarcomatous Fasciitis nodular fasciitis	ACADM ACADVL CPT2 CYP2C8 DCN DPAGT1 FKRP HADHA HADHB HSPG2 LDHA PFKM PGAM2 PGK1 PLA2G2A PLA2G6 PTGS2 PYGM SOAT1	1376 1558 1634 1798 3030 3032 3339 34 37 3939 5213 5224 5230 5320 5743 5837 6646 79147 8398	Homo sapiens (human)

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