GlyCosmos Portal

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

Displaying entries **2776 - 2800** of **4621** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼
DOID:0060574	von Willebrand's disease 2 Aliases: VWD type 2 VWD2 von Willebrand disease type 2 von Willebrand disease type II	ACADVL HADHA OTOA	146183 3030 37	Homo sapiens (human)
DOID:0080204	renal hypoplasia	B3GLCT COMT	1312 145173	Homo sapiens (human)
DOID:161	keratosis	CAT HPGDS OGG1 PIK3CA SDHD SPTLC1	10558 27306 4968 5290 6392 847	Homo sapiens (human)
DOID:0090049	paroxysmal nonkinesigenic dyskinesia 1	CD14 CEACAM7 ST3GAL5 UGP2	1087 7360 8869 929	Homo sapiens (human)
DOID:8997	polycythemia vera Aliases: Osler-Vaquez syndrome Polycythaemia rubra vera Proliferative polycythaemia chronic erythremia	ACE ACO1 ACSL6 AKR1C4 ALOX5 BPGM CALR CAT CD177 CD33 CD38 CEL CH25H CHI3L1 CHIT1 CYB5R3 CYP1A1 CYP2B6 ENPP1 FH FUT1 G6PD HPGDS ICAM1 IDH1 IDH2 IL18R1 ISYNA1 LGALS1 LGALS3 LPL PCYT1A PIGA PIK3CA PIK3CB PIK3CD PIK3CG PKLR PLAUR PTEN SDC1 SMUG1 SOAT1	1056 1109 1116 1118 1543 1555 1636 1727 2271 23305 23583 240 2523 2539 27306 3383 3417 3418 3956 3958 4023 48 5130 51477 5167 5277 5290 5291 5293 5294 5313 5329 57126 5728 6382 6646 669 811 847 8809 9023 945 952	Homo sapiens (human)
DOID:0110449	dilated cardiomyopathy 1M Aliases: CMD1M	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:0050156	idiopathic pulmonary fibrosis Aliases: FIBROCYSTIC PULMONARY DYSPLASIA IDIOPATHIC PULMONARY FIBROSIS, FAMILIAL cryptogenic fibrosing alveolitis	ACE AKT1 ALOX5 ALPI ALPP ANXA5 ATP6AP2 B3GAT3 CD248 CD55 CEACAM5 CEACAM7 CEL CEMIP CHI3L1 CTSA CYP2C9 DCN ELOVL6 ENPP2 FCGR3B FOLR2 GGT1 GLB1 HK2 HS6ST1 HS6ST2 ICAM1 IL18R1 IL1RL1 KL KLRK1 L1CAM LCLAT1 LDHA LGALS1 LGALS3 LTA4H MICA MPG MRC1 NEU1 NT5E PARP1 PARP9 PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PKD2 PRKAA2 PTEN PTGS1 PTGS2 SDC1 SDC2 SDC4 SEMA7A SFTPA1 SFTPA2 SFTPC SFTPD SHMT2 SIRT6 SLC27A5 SLC2A10 SLC2A5 SMUG1 SOAT1 SPHK1 SULF2 TM7SF2 VCAM1 VCAN	100507436 10159 1048 1056 1087 10998 1116 142 1462 1559 1604 1634 1636 207 2215 22914 2350 23583 240 248 250 253558 26229 2678 2720 308 3099 3383 3897 3939 3956 3958 4048 4350 4360 4758 4907 51548 5168 5290 5291 5293 5294 5310 5311 5476 5563 55959 57124 57214 5728 5742 5743 6382 6383 6385 6440 6441 6472 6518 653509 6646 7108 729238 7412 79071 81031 83666 8482 8809 8877 90161 9173 9365 9394	Homo sapiens (human)
DOID:2431	glomus tumor Aliases: Glomus neoplasm Glomus tumour	C1GALT1C1 CALR CD14 CTSA DPM1 GAS1 GPC6 HSD17B2 IDH1 IDH2 IGF2R IL18R1 MAG PIGF PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PNPLA2 PNPLA6 PTEN SDHB SDHD	10082 10908 2619 29071 3294 3417 3418 3482 4099 5281 5290 5291 5293 5294 5310 5476 57104 5728 6390 6392 811 8809 8813 929	Homo sapiens (human)
DOID:0050451	Brugada syndrome Aliases: Bangungut Brugada type idiopathic ventricular fibrillation Dream disease Pokkuri death syndrome SUNDS sudden unexplained nocturnal death syndrome	APRT CACNA2D1 GPD1L IDS SCD	23171 3423 353 6319 781	Homo sapiens (human)
DOID:8970	subacute sclerosing panencephalitis Aliases: Immunosuppressive measles encephalitis Van Bogaert's sclerosing leukoencephalitis subacute sclerosing leukoencephalopathy	ACE CD38 GLO1 PGM3 SDC1	1636 2739 5238 6382 952	Homo sapiens (human)
DOID:1923	disorder of sexual development Aliases: sex development disorder sex differentiation disease	AKR1C1 AKR1C2 AKR1C3 AKR1C4 CDIPT CYP11A1 CYP11B1 CYP17A1 CYP19A1 CYP21A2 CYP2B6 DHCR24 DHRS11 GAS1 HSD17B3 HSD17B7 HSD3B1 HSD3B2 MECR PGD PKD2 PRSS21 SRD5A2	10423 10942 1109 1555 1583 1584 1586 1588 1589 1645 1646 1718 2619 3283 3284 3293 51102 51478 5226 5311 6716 79154 8644	Homo sapiens (human)
DOID:1924	hypogonadism	ACAN ADH5 ALG1 ALPP AMACR ATRNL1 B4GALNT1 CA4 CD38 CTNS CYP11A1 CYP17A1 CYP19A1 CYP2R1 DDOST DHDDS EXT1 G6PC3 GALT GK HGSNAT HJV HS6ST1 HSD17B3 HSD3B1 IDH3A IDH3B INPP5K LEP PMM2 PNPLA6 POMGNT1 PTDSS1 SCP2 SGPL1 SLC3A1 STS TYMP	10908 120227 128 138050 148738 1497 1583 1586 1588 1650 176 1890 2131 23600 250 2583 2592 26033 2710 3283 3293 3419 3420 3952 412 51763 5373 55624 56052 6342 6519 762 79947 8879 92579 9394 952 9791	Homo sapiens (human)
DOID:62	aortic valve disease	ACAN ENPP1 KL NT5E PLA2G7 PLPP3 STS	176 412 4907 5167 7941 8613 9365	Homo sapiens (human)
DOID:0110767	hereditary spastic paraplegia 14 Aliases: SPG14 autosomal recessive spastic paraplegia 14 autosomal recessive spastic paraplegia type 14	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:14176	selective IgG deficiency disease Aliases: Immunoglobin G subclass deficiency Selective IgG Immunodeficiency Selective Immunoglobulin G Subclass deficiency Selective deficiency of IgG Selective immunoglobulin G deficiency	MBL2	4153	Homo sapiens (human)
DOID:0070433	hyperphosphatasia with impaired intellectual development syndrome 1 Aliases: GPIBD2 HPMRS1 glycosylphosphatidylinositol biosynthesis defect 2 hyperphosphatasia with mental retardation syndrome 1	PIGV	55650	Homo sapiens (human)
DOID:0110125	Bardet-Biedl syndrome 3 Aliases: BBS3	INPP5E PIGX	54965 56623	Homo sapiens (human)
DOID:3016	breast malignant phyllodes tumor Aliases: Phyllodes breast neoplasm Phyllodes tumor, malignant breast malignant phyllodes tumour malignant Mammary Phyllodes tumor malignant Mammary Phyllodes tumour malignant Phyllodes neoplasm malignant cystosarcoma phyllodes malignant phyllodes tumor malignant phyllodes tumor of breast malignant phyllodes tumour malignant phyllodes tumour of breast phyllodes breast tumor phyllodes breast tumour	DCN FASN INPP4B PIK3CA PIK3CB PIK3CD PIK3CG SDHA SDHB VTCN1	1634 2194 5290 5291 5293 5294 6389 6390 79679 8821	Homo sapiens (human)
DOID:0070230	benign recurrent intrahepatic cholestasis Aliases: BRIC Summerskill-Walshe-Tygstrup syndrome	GGT1	2678	Homo sapiens (human)
DOID:0110248	cataract 30 Aliases: CTRCT30 Dusty cataract cataract 30 pulverulent cataract Coppock-like	AGK ALDH7A1 CRYL1 CYP27A1 GALK1 GCNT2 GPC5 INPP5K LSS OCRL PIK3CA PIK3CB PIK3CD PIK3CG PTEN SLC17A5 SLC33A1 SORD	1593 2262 2584 26503 2651 4047 4952 501 51084 51763 5290 5291 5293 5294 55750 5728 6652 9197	Homo sapiens (human)
DOID:0110645	long QT syndrome 2 Aliases: LQT2	ALG10 ALG10B SCD	144245 6319 84920	Homo sapiens (human)
DOID:2365	West Nile encephalitis Aliases: West Nile Fever with encephalitis West Nile fever encephalitis	NAMPT PIK3CA PIK3CB PIK3CD	10135 5290 5291 5293	Homo sapiens (human)
DOID:6255	growth hormone secreting pituitary adenoma Aliases: Growth Hormone Producing adenoma of the Pituitary Somatotroph adenoma growth hormone secreting adenoma of pituitary	KL PKD1 PTGS2 SDHD	5310 5743 6392 9365	Homo sapiens (human)
DOID:2123	tularemia	ALOX5	240	Homo sapiens (human)
DOID:13223	uterine fibroid Aliases: Plexiform leiomyoma UTERUS FIBROMA leiomyoma of Corpus Uteri uterine leiomyoma	ACE AKR1B1 CD38 CD44 CHST3 COG5 COG6 COMT CYP17A1 CYP19A1 CYP1A1 CYP1B1 CYP24A1 CYP2B6 CYP4F3 DHCR24 EBP EDEM2 ENO1 FASN FH FMOD GLB1 HK3 HPGDS HPSE2 HSD17B1 HSD17B2 HSD17B7 IL18R1 LGALS3 OGG1 PARP1 PGAM1 PIK3CA PIK3CB PIK3CD PIK3CG PLA2G1B POGLUT3 PTEN PTGS2 RECK SDHB SLC2A4 SMUG1 SORD TKTL1 UGT1A8 VCAN	10466 10682 1312 142 143888 1462 1543 1545 1555 1586 1588 1591 1636 1718 2023 2194 2271 231 2331 23583 2720 27306 3101 3292 3294 3958 4051 4968 51478 5223 5290 5291 5293 5294 5319 54576 55741 5728 5743 57511 60495 6390 6517 6652 8277 8434 8809 9469 952 960	Homo sapiens (human)

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