GlyCosmos Portal

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

Displaying entries **4226 - 4250** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲
DOID:10873	Kuhnt-Junius degeneration Aliases: Exudative senile macular degeneration of retina Neovascular age-related macular degeneration Senile macular degeneration, wet Wet senile macular retinal degeneration	ACE ANXA5 ARSF B3GLCT CALR CD93 CHI3L1 CYP21A2 ELOVL4 FUT6 GPX3 HPGDS LIPC MASP2 PLA2G12A PNPLA2 TLR2	10747 1116 145173 1589 1636 22918 2528 27306 2878 308 3990 416 57104 6785 7097 811 81579	Homo sapiens (human)
DOID:2739	Gilbert syndrome Aliases: Constitutional hyperbilirubinemia Gilbert's disease Gilbert's syndrome Gilbert-Meulengracht syndrome hereditary nonhemolytic jaundice	ABO AKR1D1 ALDOB AMACR COG6 CYP2B6 ENO2 FH G6PD HK1 HSD3B7 LPL NT5E PGK1 PRKAA2 SELP SLC17A5 SLC35A2 UGGT1 UGT1A10 UGT1A1 UGT1A3 UGT1A4 UGT1A5 UGT1A6 UGT1A7 UGT1A8 UGT1A9 UMPS XYLT2	1555 2026 2271 229 23600 2539 26503 28 3098 4023 4907 5230 54575 54576 54577 54578 54579 54600 54657 54658 54659 5563 56886 57511 6403 64132 6718 7355 7372 80270	Homo sapiens (human)
DOID:0060255	rippling muscle disease 2 Aliases: autosomal dominant limb-girdle muscular dystrophy type 1C	ACE ACHE AGL APRT B3GALNT2 B4GALNT2 B4GAT1 CHKA CHKB CHPT1 CRPPA DAG1 DCN DHDDS DPEP1 DPM1 DPM2 DPM3 ENO1 FASN 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 2194 2218 2710 2720 27306 29925 29954 3418 353 3612 3633 3958 4153 43 51763 5286 5373 54344 5553 55624 56983 56994 6383 6476 729920 79147 79947 84197 84892 8813 8818 8867 8871 8972 9215	Homo sapiens (human)
DOID:14501	Sjogren-Larsson syndrome Aliases: FALDH deficiency SLS Sjogren Larsson syndrome Sjogren-Larsson's syndrome fatty acid alcohol oxidoreductase deficiency	ACSL3 ACSL4 ADH5 ALDH3A1 ALDH3A2 ALDH3B1 ALDH3B2 ALOX12B CERS3 EBP ELOVL4 GBA1 HSD17B6 MRC1 NSDHL STS SULT2B1	10682 128 204219 218 2181 2182 221 222 224 242 2629 412 4360 50814 6785 6820 8630	Homo sapiens (human)
DOID:461	muscle benign neoplasm Aliases: Myomatous neoplasm Myomatous tumor muscle neoplasm muscle tissue neoplasm neoplasm of muscle	CDH13 FH	1012 2271	Homo sapiens (human)
DOID:0110645	long QT syndrome 2 Aliases: LQT2	ALG10 ALG10B SCD	144245 6319 84920	Homo sapiens (human)
DOID:2754	glycogen storage disease VI Aliases: Glycogen storage disease 6 Hers' disease glycogen storage disease type VI hepatic glycogen phosphorylase deficiency hepatophosphorylase deficiency glycogenosis	APRT ENO2 G6PC1 GAA GBE1 IMPA1 PFKM PYGL PYGM	2026 2538 2548 2632 353 3612 5213 5836 5837	Homo sapiens (human)
DOID:2368	gangliosidosis	GLB1 HEXA HEXB OGA PNP	10724 2720 3073 3074 4860	Homo sapiens (human)
DOID:0080476	peroxisome biogenesis disorder 1A Aliases: peroxisome biogenesis disorder 1A (Zellweger)	ACOX2 AGPS CAT GNPAT GPD1 HSD17B4 HSD17B7 PAFAH1B1	2819 3295 5048 51478 8309 8443 847 8540	Homo sapiens (human)
DOID:12305	Bloch-Sulzberger syndrome Aliases: Incontinentia pigmenti Incontinentia pigmenti syndrome	ACACA CD38 CEL CHIT1 CLEC7A COLEC11 CYP1B1 CYP51A1 G6PD IL1R1 MASP1 MPG NSDHL PARP9 SFTPD SLC27A5 SMUG1	1056 10998 1118 1545 1595 23583 2539 31 3554 4350 50814 5648 6441 64581 78989 83666 952	Homo sapiens (human)
DOID:0070224	progressive familial intrahepatic cholestasis 4 Aliases: PFIC4 TJP2 deficit	HSD3B7	80270	Homo sapiens (human)
DOID:3559	pseudomyxoma peritonei Aliases: mucinous Ascites	CEACAM5 CEACAM7 FUT8 PIK3CA PIK3CB PIK3CD PIK3CG PTGS2 SMUG1	1048 1087 23583 2530 5290 5291 5293 5294 5743	Homo sapiens (human)
DOID:0110467	autosomal recessive nonsyndromic deafness 12 Aliases: DFNB12 autosomal recessive deafness 12	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:1930	Laurence-Moon syndrome Aliases: LNMS	INPP5E PIGX PNPLA6	10908 54965 56623	Homo sapiens (human)
DOID:0111103	maturity-onset diabetes of the young type 4 Aliases: MODY type 4 MODY4	PDHX PDX1	3651 8050	Homo sapiens (human)
DOID:4449	macular retinal edema Aliases: macular edema macular oedema macular retinal oedema	ACE CALR CAT	1636 811 847	Homo sapiens (human)
DOID:962	neurofibroma	ACHE CD38 CD44 CNTN2 PTEN SDHB SDHC SMUG1 SOAT1	23583 43 5728 6390 6391 6646 6900 952 960	Homo sapiens (human)
DOID:0060398	chromosome 16p11.2 deletion syndrome, 220-kb Aliases: distal 16p11.2 microdeletion syndrome	CYP11A1 FREM1 PAFAH1B1 PRNP	1583 158326 5048 5621	Homo sapiens (human)
DOID:0050876	Caroli disease	PKD1	5310	Homo sapiens (human)
DOID:2769	tic disorder	CD44 ENO2	2026 960	Homo sapiens (human)
DOID:2383	neonatal jaundice Aliases: neonatal hyperbilirubinemia neonatal icterus	ABO CAT FBP1 G6PD GALT GGT1 GPI GPX1 HK1 HPGDS SLC35A2 UGGT1 UGT1A10 UGT1A1 UGT1A3 UGT1A4 UGT1A5 UGT1A6 UGT1A7 UGT1A8 UGT1A9	2203 2539 2592 2678 27306 28 2821 2876 3098 54575 54576 54577 54578 54579 54600 54657 54658 54659 56886 7355 847	Homo sapiens (human)
DOID:12156	arachnoiditis	APRT CAT CD248 CDS1 CHI3L1 ENOSF1 GALNS ICAM1 LYZ MBL2 NEU1 OGG1 PARP1 PRNP	1040 1116 142 2588 3383 353 4069 4153 4758 4968 55556 5621 57124 847	Homo sapiens (human)
DOID:3133	acute porphyria Aliases: hepatic porphyria	CYP2B6	1555	Homo sapiens (human)
DOID:0050788	proximal symphalangism Aliases: Cushing's symphalangism	HSPG2 SDC2	3339 6383	Homo sapiens (human)
DOID:2729	dyskeratosis congenita Aliases: DKCD	GALNT3 GOLPH3 HPSE2 TECR TP53	2591 60495 64083 7157 9524	Homo sapiens (human)

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