GlyCosmos Portal

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

Displaying entries **2676 - 2700** of **4621** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲
DOID:1039	prolymphocytic leukemia Aliases: PLL Prolymphocytic leukaemia	CD38 FCER2 ICAM1 SIRT2	2208 22933 3383 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:0070118	Meckel syndrome 4 Aliases: MKS4 Meckel-Gruber syndrome, type 4	ALG8 ALG9 ARF4 PKD1 PKD2 UMOD	378 5310 5311 7369 79053 79796	Homo sapiens (human)
DOID:3742	bladder squamous cell carcinoma Aliases: Epidermoid carcinoma of the urinary bladder squamous cell carcinoma of bladder	PTEN	5728	Homo sapiens (human)
DOID:0060485	Mowat-Wilson syndrome Aliases: Hirschsprung disease mental retardation syndrome microcephaly, mental retardation, and distinct facial featrues, with or without Hirschprung disease	ARSD	414	Homo sapiens (human)
DOID:10573	osteomalacia	ACE ALPL APRT BAAT CEACAM5 CEACAM7 CTNS CYP24A1 CYP27A1 CYP27B1 CYP2R1 CYP3A4 CYP7A1 DHCR7 EHHADH ENPP1 GALC GGT1 HSD11B2 HSD3B7 KL MCAT OCRL PHOSPHO1 PIK3CA PIK3CB PIK3CD PIK3CG PTGS2 RGN SCD SFTPA1 SLC17A5 SLC2A2 TALDO1	1048 1087 120227 1497 1576 1581 1591 1593 1594 162466 1636 1717 1962 249 2581 26503 2678 27349 3291 353 4952 5167 5290 5291 5293 5294 570 5743 6319 6514 653509 6888 80270 9104 9365	Homo sapiens (human)
DOID:2048	autoimmune hepatitis Aliases: Autoimmune chronic active hepatitis autoimmune hepatitis with centrilobular necrosis	ACACA ACE ADIPOQ ALDOB ARSA CAT CD1D CD74 CFC1 CHST3 CYP11A1 CYP11B1 CYP17A1 CYP19A1 CYP1A2 CYP21A2 CYP2B6 CYP2C19 CYP2C9 CYP2E1 CYP3A4 DBT DLAT FH GPI GPX1 HK1 HPGDS HSD11B2 HSD17B3 HSD17B6 HSD3B2 INPP5D KLRC1 KLRK1 LGALS9 OGT PDIA3 SLC17A5 SLC2A3 SMUG1 TNF UMOD	1544 1555 1557 1559 1571 1576 1583 1584 1586 1588 1589 1629 1636 1737 2271 229 22914 23583 26503 27306 2821 2876 2923 3098 31 3284 3291 3293 3635 3821 3965 410 55997 6515 7124 7369 847 8473 8630 912 9370 9469 972	Homo sapiens (human)
DOID:0110436	dilated cardiomyopathy 1L Aliases: CMD1L	ACADVL ACE BDH1 CHKB CPT2 DAG1 DOLK FASN FKRP FKTN GLB1 GPX1 HACD1 HADH HADHA HADHB HJV HMGCL HPRT1 LDHA LGALS3 LPL MDH1 MICA MTM1 NAMPT NCAM1 NDUFAB1 PCYT1A PGM1 PIK3CA PIK3CB PIK3CD PIK3CG PLA2G7 POMT2 RENBP SDHA SDHD SLC2A10 SLC2A4	100507436 10135 1120 1376 148738 1605 1636 2194 2218 22845 2720 2876 29954 3030 3032 3033 3155 3251 37 3939 3958 4023 4190 4534 4684 4706 5130 5236 5290 5291 5293 5294 5973 622 6389 6392 6517 79147 7941 81031 9200	Homo sapiens (human)
DOID:2766	ethmoid sinus adenocarcinoma Aliases: adenocarcinoma of the ethmoid sinus	PIK3CA	5290	Homo sapiens (human)
DOID:0080094	myofibrillar myopathy 3 Aliases: LGMD 1A autosomal dominant limb-girdle muscular dystrophy type 1A myotilinopathy spheroid body myopathy	ACE ACHE AGL APRT B3GALNT2 B4GALNT2 B4GAT1 CHKA CHKB CRPPA DAG1 DCN DPEP1 DPM1 DPM2 DPM3 ENO1 FKRP FKTN GK GLB1 GMPPB HPGDS IDH2 IMPA1 INPP5B INPP5K LARGE1 LARGE2 LGALS3 MBL2 MGAM PARP1 PIK3C2A PMM2 POGLUT1 POMGNT1 POMGNT2 POMK POMT1 POMT2 PRG2 RXYLT1 SDC2 SI SYNJ1 SYNJ2	10329 10585 11041 1119 1120 120071 124872 142 148789 1605 1634 1636 178 1800 2023 2218 2710 2720 27306 29925 29954 3418 353 3612 3633 3958 4153 43 51763 5286 5373 54344 5553 55624 56983 6383 6476 729920 79147 84197 84892 8813 8818 8867 8871 8972 9215	Homo sapiens (human)
DOID:13014	shipyard eye Aliases: EKC Epidemic keratoconjunctivitis	PLD3	23646	Homo sapiens (human)
DOID:0111277	mitochondrial trifunctional protein deficiency Aliases: MTPD TFP deficiency TFPD	ACADVL CPT1A CPT2 DHDDS EHHADH GBE1 HADH HADHA HADHB PTEN	1374 1376 1962 2632 3030 3032 3033 37 5728 79947	Homo sapiens (human)
DOID:0050441	mucosulfatidosis Aliases: Sulfatidosis, Juvenile, Austin Type multiple sulfatase deficiency disease	ARSA ARSH CAT SGSH STS SUMF1	285362 347527 410 412 6448 847	Homo sapiens (human)
DOID:9893	periodontosis	ALOX5 CD14 CYP1A1 DGKA FCGR3B GLT6D1 IL1R1 MBL2 MMP25 PAFAH1B1 PTGS2 SELE SIGLEC5 SMPD3 VCAM1	1543 1606 2215 240 3554 360203 4153 5048 55512 5743 6401 64386 7412 8778 929	Homo sapiens (human)
DOID:0080197	congenital muscular dystrophy with cataracts and intellectual disability	INPP5K	51763	Homo sapiens (human)
DOID:12705	Friedreich ataxia Aliases: Friedreich's ataxia Friedreich's tabes	ACO2 CAT COG5 DLD GAA GPAA1 GPX1 HPGDS HSD17B4 ICAM1 LPL PIP5K1B PRKAA2 PRNP PTGS2 VCAM1	10466 1738 2548 27306 2876 3295 3383 4023 50 5563 5621 5743 7412 8395 847 8733	Homo sapiens (human)
DOID:0060790	hypomyelinating leukodystrophy 3 Aliases: HLD3 Pelizaeus-Merzbacher-like disease due to AIMP1 mutation	GBA1	2629	Homo sapiens (human)
DOID:14464	neuroleptic malignant syndrome	CPT2 PIK3C2A RENBP	1376 5286 5973	Homo sapiens (human)
DOID:676	juvenile rheumatoid arthritis Aliases: Pauciarticular onset juvenile chronic arthritis Still's disease acute juvenile rheumatoid arthritis juvenile chronic polyarthritis juvenile idiopathic arthritis monarticular juvenile rheumatoid arthritis pauciarticular juvenile arthritis systemic juvenile rheumatoid arthritis	ACACA ACAN ALOX12 CAT CD14 CHIT1 CLEC16A COG6 DAG1 FCN2 FUT2 HYAL1 ICAM1 LACC1 LYZ MBL2 NAMPT NCAM1 OLR1 PCYT1B PLAUR PRNP SELP SLC26A2 SLC2A3 TNFRSF10C VTCN1	10135 1118 144811 1605 176 1836 2220 23274 239 2524 31 3373 3383 4069 4153 4684 4973 5329 5621 57511 6403 6515 79679 847 8794 929 9468	Homo sapiens (human)
DOID:0080567	congenital disorder of glycosylation Ip Aliases: congenital disorder of glycosylation 1p	ALG11	440138	Homo sapiens (human)
DOID:0110447	dilated cardiomyopathy 1DD Aliases: CMD1DD	ACADVL ACE BDH1 CHKB CPT2 DAG1 DOLK FASN FKRP FKTN GLB1 GPX1 HACD1 HADH HADHA HADHB HJV HMGCL HPRT1 LDHA LGALS3 LPL MDH1 MICA MTM1 NAMPT NCAM1 NDUFAB1 PCYT1A PGM1 PIK3CA PIK3CB PIK3CD PIK3CG PLA2G7 POMT2 RENBP SDHA SDHD SLC2A10 SLC2A4	100507436 10135 1120 1376 148738 1605 1636 2194 2218 22845 2720 2876 29954 3030 3032 3033 3155 3251 37 3939 3958 4023 4190 4534 4684 4706 5130 5236 5290 5291 5293 5294 5973 622 6389 6392 6517 79147 7941 81031 9200	Homo sapiens (human)
DOID:5016	hepatocellular clear cell carcinoma Aliases: Clear cell carcinoma of the Liver cells Hepatocellular carcinoma, clear cell type	IDH1 IDH2 LEP LEPR	3417 3418 3952 3953	Homo sapiens (human)
DOID:731	urinary system benign neoplasm Aliases: neoplasm of urinary system tumor of the urinary system tumor of urinary tract urinary tract neoplasm	ACE ACSS2 CEACAM5 CEACAM7 COMT OGG1 PIK3CA PLA2G15	1048 1087 1312 1636 23659 4968 5290 55902	Homo sapiens (human)
DOID:0110148	Charcot-Marie-Tooth disease type 1A Aliases: CMT1A Charcot-Marie-Tooth neuropathy type 1A HMSN1A autosomal dominant Charcot-Marie-Tooth disease with focally folded myelin sheaths type 1A hereditary motor and sensory neuropathy 1A microduplication 17p12	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:0060359	Sakati-Nyhan syndrome Aliases: ACPS with leg hypoplasia Sakati syndrome Sakati-Nyhan-Tisdale syndrome acrocephalopolysyndactyly Type III acrocephalopolysyndactyly type 3	AKR1C4 CNTN3 COG1 CYP2B6 DGCR2 FREM1 G6PD GAS1 GYS2 LSS NT5E SLC26A2	1109 1555 158326 1836 2539 2619 2998 4047 4907 5067 9382 9993	Homo sapiens (human)

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