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GlyCosmos Diseases

List of diseases involving glycan related genes. The information of each database of Glyco-Disease Genes Database (GDGDB) and Alliance of Genome Resources is integrated into one list.

Source	Last Updated
Alliance of Genome Resources	October 9, 2024
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **551 - 575** of **15957** in total

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Disease ID	Disease Name	Gene Symbol ▲	Gene ID	Organism	Source
DOID:11396	pulmonary edema	ADRB2 AGT ALOX5 CCL2 IL13 NOS2 NOS3 SFTPA1 SGMS1 TNF VEGFA	154 183 240 259230 3596 4843 4846 6347 653509 7124 7422	Homo sapiens (human)	Alliance of Genome Resources
DOID:1459	hypothyroidism Aliases: Thyroid deficiency Thyroid insufficiency	ADRB2 ANXA1 ANXA2 ANXA5 APOA5 APOC3 APOE AQP3 ARSA BAD BDNF CAT COL1A2 COL2A1 CS CYP19A1 DPYSL2 DUOX1 DUOX2 ENTPD1 F7 GPX1 GRK3 GSN HLA-DQB1 HLA-DRB1 HSD3B1 IFNG IGFBP2 IL10 IL4 L1CAM LIPC MAP1A MAP1B MBP MSTN MYH7 NCAM1 NCOA1 NCOR1 ND3 NEFH NEFL NEFM NGF NOS2 NOS3 NR1D1 PAM PCNA PCSK1 PHKA1 PITX2 PLOD1 PLOD2 PLOD3 PNPLA3 RELN SERPINA7 SHH SLC26A5 SLC2A1 SLC34A1 SLC9A1 SOD1 SOD2 SRD5A1 TG THBD THRA TSHB UCP2 UCP3 WNT3A	116519 1278 1280 1431 154 157 1588 1808 2155 2660 2876 2934 301 302 308 3119 3123 3283 345 3458 348 3485 3565 3586 360 375611 3897 3990 410 4130 4131 4155 4537 4625 4684 4741 4744 4747 4803 4843 4846 50506 5066 5111 5122 5255 5308 5351 5352 53905 5649 572 627 6469 6513 6548 6569 6647 6648 6715 6906 7038 7056 7067 7252 7351 7352 80339 847 8648 89780 8985 953 9572 9611	Homo sapiens (human)	Alliance of Genome Resources
DOID:13810	familial hypercholesterolemia Aliases: Fredrickson type IIa hyperlipoproteinemia Fredrickson type IIa lipidaemia familial hyperbetalipoproteinaemia familial hypercholesteremia hyperbetalipoproteinemia type II hyperlipidemia	ADRB2 APOA1 APOB APOE EPHX2 GHR GK LDLR MMP9 PCSK9 PON2 RBP4 SERPINE1	154 2053 255738 2690 2710 335 338 348 3949 4318 5054 5445 5950	Homo sapiens (human)	Alliance of Genome Resources
DOID:1067	open-angle glaucoma Aliases: Wide-angle glaucoma glaucoma simplex open angle glaucoma pigmentary glaucoma	ADRB2 APOC3 APOE GMDS IL10 IL2 MYOC OPTN PON1 TAP1 TNF	10133 154 2762 345 348 3558 3586 4653 5444 6890 7124	Homo sapiens (human)	Alliance of Genome Resources
DOID:0014667	disease of metabolism Aliases: metabolic disease	ADRB2 BAAT DLD HSPA8 INS LDHA LDHAL6A LDHAL6B LDHB LDHC NBN PDHA1 PDHA2 PFKL PFKM PFKP PKLR PKM PTEN PTPN11 RHEB SREBF1 TJP2 YTHDF1 YTHDF2 YTHDF3	154 160287 1738 253943 3312 3630 3939 3945 3948 4683 51441 5160 5161 5211 5213 5214 5313 5315 54915 570 5728 5781 6009 6720 92483 9414	Homo sapiens (human)	Alliance of Genome Resources
DOID:1555	urticaria	ADRB2 BDNF CCR2 CCR3 CCR5 F2 HLA-DRB1 NGFR SOD2	1232 1234 154 2147 3123 4804 627 6648 729230	Homo sapiens (human)	Alliance of Genome Resources
DOID:2942	bronchiolitis	ADRB2 CCL11 CD40 IL17A IL1RN MUC5B	154 3557 3605 6356 727897 958	Homo sapiens (human)	Alliance of Genome Resources
DOID:13949	interstitial cystitis Aliases: ulcerative cystitis	ADRB2 CSF1 CSF2 ERBB2 ERBB4 HIF1A MAPK14 MKI67 MTOR NGF NOS2 NRG1 VCAM1 VEGFA	1432 1435 1437 154 2064 2066 2475 3084 3091 4288 4803 4843 7412 7422	Homo sapiens (human)	Alliance of Genome Resources
DOID:2723	dermatitis Aliases: eczema skin inflammation	ADRB2 HCN2 HLA-B IKBKB IL13 TNF	154 3106 3551 3596 610 7124	Homo sapiens (human)	Alliance of Genome Resources
DOID:1380	endometrial cancer Aliases: endometrial Ca endometrial neoplasm malignant endometrial neoplasm malignant neoplasm of endometrium neoplasm of endometrium primary malignant neoplasm of endometrium tumor of Endometrium	ADRB3 AFP AKT2 APC APEX1 AR ATM ATR BAD BRCA2 BST2 CD59 CD9 CDC25B CDH1 CHI3L1 COMT CYP19A1 CYP1A1 CYP1A2 EFEMP2 EGF ERRFI1 IL10 JAK1 JUP LTA MRE11 MSH6 NOTCH1 NOTCH4 PGM1 PIK3CB PIK3CD POLE PTEN RNF43 RUNX1 SHBG SPAG9 SULT1E1 TFF1 TNFRSF1A TNFRSF1B TP53 TYMP UGT1A1	1116 1312 1543 1544 155 1588 174 1890 1950 208 2956 30008 324 328 3586 367 3716 3728 4049 4361 472 4851 4855 5236 5291 5293 54206 5426 545 54658 54894 572 5728 6462 675 6783 684 7031 7132 7133 7157 861 9043 928 966 994 999	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110429	dilated cardiomyopathy 1H Aliases: dilated cardiomyopathy with conduction defect	ADRB3 AIFM1 CYP11B2 HLA-DQA1 HLA-DQB1 TNF TRPC5	155 1585 3117 3119 7124 7224 9131	Homo sapiens (human)	Alliance of Genome Resources
DOID:1115	sarcoma Aliases: connective and soft tissue neoplasm tumor of soft tissue and skeleton	ADSS2 ATRX CCL2 FUS HSPB1 KDR KNL1 MDM2 MET PDHX PTPRB SREBF2 TP53	159 2521 3315 3791 4193 4233 546 57082 5787 6347 6721 7157 8050	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080732	Ehlers-Danlos syndrome classic-like 2	AEBP1	165	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080984	X-linked intellectual developmental disorder 109 Aliases: Fragile XE syndrome fragile site on chromosome Xq28	AFF2	2334	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112383	KINSSHIP syndrome Aliases: AFF3-related mesomelic dysplasia KINS Steichen-Gersdorf type mesomelic dysplasia	AFF3	3899	Homo sapiens (human)	Alliance of Genome Resources
DOID:8923	skin melanoma Aliases: cutaneous melanoma malignant ear melanoma malignant lip melanoma malignant lower limb melanoma malignant melanoma of ear and/or external auricular canal malignant melanoma of skin of lower limb malignant melanoma of skin of trunk except scrotum malignant melanoma of skin of upper limb malignant neck melanoma malignant scalp melanoma malignant trunk melanoma malignant upper limb melanoma	AFF4 AGT BRCA2 CCL2 CD40 CHAF1B CTCF DDR1 FANCD2 GRM1 HIF1A ICAM1 MMP1 MMP2 MMP9 OCA2 PDCD4 STAT3 TYR	10664 183 2177 27125 27250 2911 3091 3383 4312 4313 4318 4948 6347 675 6774 7299 780 8208 958	Homo sapiens (human)	Alliance of Genome Resources
DOID:1883	hepatitis C Aliases: NANBH Viral hepatitis C chronic hepatitis C hepatitis C infection hepatitis nonA nonB	AFP APOA1 CCL5 CCR5 CD274 F2 HLA-DQA1 HLA-DQB1 HLA-DRB1 HLA-G IFNA2 IFNAR1 IFNG IFNL1 IL10 IL12A IL13 IL2 IL4 IL6 IRF5 KIR2DS1 KIR3DL1 KIR3DS1 KLRC1 KLRK1 LDLR MBL2 MPL MYC NCR1 NCR3 PDCD1 PTX3 SAMHD1 STAT1 STAT2 TERT TLR3 TLR9 TREM1	1234 174 2147 22914 259197 25939 282618 29126 3117 3119 3123 3135 335 3440 3454 3458 3558 3565 3569 3586 3592 3596 3663 3806 3811 3813 3821 3949 4153 4352 4609 5133 54106 54210 5806 6352 6772 6773 7015 7098 9437	Homo sapiens (human)	Alliance of Genome Resources
DOID:3308	embryonal carcinoma Aliases: primary extragonadal embryonal carcinoma	AFP CHEK2 FGF8 INHA POU5F1 RB1	11200 174 2253 3623 5460 5925	Homo sapiens (human)	Alliance of Genome Resources
DOID:1911	endodermal sinus tumor Aliases: Hepatoid yolk sac tumour Yolk Sac neoplasm Yolk sac tumour endodermal sinus tumour infantile embryonal carcinoma yolk sac tumor	AFP CTNNB1 FGF8 SALL4 WNT2B	1499 174 2253 57167 7482	Homo sapiens (human)	Alliance of Genome Resources
DOID:3305	teratocarcinoma Aliases: mixed Embryonal carcinoma and teratoma	AFP	174	Homo sapiens (human)	Alliance of Genome Resources
DOID:3211	lysosomal storage disease Aliases: disorder of lysosomal enzyme inborn lysosomal enzyme disorder lysosomal storage metabolism disorder	AGA CTSA GGA2 GGA3 GLA HEXB MITF PSAP PSAPL1 SLC17A5 SLC66A1 TFE3 TFEB VPS16	175 23062 23163 26503 2717 3074 4286 5476 54896 5660 64601 7030 768239 7942	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050461	aspartylglucosaminuria Aliases: aspartylglucosaminidase deficiency aspartylglycosaminuria glycosylasparaginase deficiency	AGA	175	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0050888	syndromic intellectual disability	AGAP1 AGAP2 AGAP5 AGAP9 AUTS2 BRPF1 DOT1L DYRK1A EZH2 FRY FRYL KDM5B OPHN1 PDZD8 PRPF19 PSMC3 UNC79 ZMYND8	10129 10765 116986 116987 118987 1859 2146 23613 26053 27339 285527 4983 5702 57578 642517 729092 7862 84444	Homo sapiens (human)	Alliance of Genome Resources
DOID:11555	Fuchs' endothelial dystrophy Aliases: FCED Fuchs' corneal dystrophy Fuchs' endothelial corneal dystrophy	AGBL1 C3 CLU COL8A2 LOXHD1 SLC4A11 TCF4 ZEB1	1191 123624 125336 1296 6925 6935 718 83959	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110361	retinitis pigmentosa 75 Aliases: RP75	AGBL5	60509	Homo sapiens (human)	Alliance of Genome Resources

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