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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 **4001 - 4025** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲	Source
DOID:0080773	delta beta-thalassemia	HBB	3043	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111896	Diamond-Blackfan anemia 18 Aliases: DBA18 RPL18-related Diamond-Blackfan anemia	RPL18	6141	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111131	focal segmental glomerulosclerosis 6 Aliases: FSGS6	MYO1E	4643	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081030	central conducting lymphatic anomaly Aliases: lymphatic malformation-7	EPHB4	2050	Homo sapiens (human)	Alliance of Genome Resources
DOID:3121	gallbladder cancer Aliases: gallbladder Ca gallbladder neoplasm localized malignant gallbladder neoplasm malignant neoplasm of gallbladder malignant tumor of the gallbladder malignant tumour of gallbladder tumor of the gallbladder	APC APOB APOE BUB1B CALR CCR5 CYP17A1 CYP1A1 DPYD EGF GLI1 JUNB KEAP1 LRP1B RBP4 RICTOR XRCC1	1234 1543 1586 1806 1950 253260 2735 324 338 348 3726 53353 5950 701 7515 811 9817	Homo sapiens (human)	Alliance of Genome Resources
DOID:8997	polycythemia vera Aliases: Osler-Vaquez syndrome Polycythaemia rubra vera Proliferative polycythaemia chronic erythremia	CD36 ELANE EPOR HFE	1991 2057 3077 948	Homo sapiens (human)	Alliance of Genome Resources
DOID:14453	farmer's lung Aliases: Farmers lung farmer lung	TNF	7124	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070482	spinal neurofibromatosis Aliases: FNSF SNF familial spinal neurofibromatosis	NF1	4763	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090032	Silverman-Handmaker type dyssegmental dysplasia	HSPG2	3339	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060319	cardiac arrest Aliases: cardiopulmonary arrest circulatory arrest	ABCC8 CCL5 EP300 ITPR1 TNF TRPM4	2033 3708 54795 6352 6833 7124	Homo sapiens (human)	Alliance of Genome Resources
DOID:3969	thyroid gland papillary carcinoma Aliases: Papillary carcinoma of the Thyroid gland	ATM BRD4 CAT CDH1 CTNNB1 HABP2 HRAS KMT2D LEF1 MINPP1 MYC NKX2-1 NRAS PLAU RUNX3 SRGAP1 TP53 WDR3 XRCC1	10885 1499 23476 3026 3265 4609 472 4893 51176 5328 57522 7080 7157 7515 8085 847 864 9562 999	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060577	3MC syndrome 3	COLEC10	10584	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050889	non-syndromic intellectual disability	TECR	9524	Homo sapiens (human)	Alliance of Genome Resources
DOID:7474	malignant pleural mesothelioma Aliases: malignant mesothelioma of pleura	BAP1 CHRNA7 EZH2 FMR1 FXR1 FXR2 IL7R KDM6A MLH1 NCOA2 SETD2 SLC7A5 SMO	10499 1139 2146 2332 29072 3575 4292 6608 7403 8087 8140 8314 9513	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070365	nevoid basal cell carcinoma syndrome 1 Aliases: basal cell nevus syndrome 1	PTCH1	5727	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081119	benign familial infantile seizures 6 Aliases: Autosomal dominant nocturnal frontal lobe epilepsy Benign Familial Infantile Seizures, 6 nocturnal frontal lobe epilepsy-4	CHRNA2	1135	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070054	Vulto-van Silfout-de Vries syndrome Aliases: IDDISBAS MRD24 VSVS autosomal dominant mental retardation 24 autosomal dominant non-syndromic intellectual disability 24 intellectual developmental disorder with impaired expressive speech and behavioral abnormalities, with or without seizures	DEAF1	10522	Homo sapiens (human)	Alliance of Genome Resources
DOID:3021	acute kidney failure	ACE ADRB2 AGER ALOX5 AMBP ANXA1 AR AVPR1A AZGP1 B2M BAD BAX CAPN1 CDKN1B CLU CYP27B1 CYP2E1 ECE1 EGF EGFR EPAS1 EPO FAS FGA FN1 GFER GPX3 HAVCR1 HBEGF HDAC3 HES1 HIF1A HP HPR HSPA8 ICAM1 IGF1R IL1RN IL6 LCN2 LGALS3 MET MPO MTOR NDUFB8 NES NFE2L2 NOS1 NOS3 NPPA NPPB PKD2 PLAT PPARG PROC PROCR PTAFR PTGER4 PTGS2 RB1 REN SERPINC1 SIRT1 SLC22A1 SLC22A2 TGFA THBD TLR4 TNFRSF1A TNFRSF1B UTS2R WNT4	1027 10544 10763 1191 154 1571 1594 1636 177 1839 1889 1950 1956 2034 2056 2243 2335 23411 240 2475 259 2671 26762 2837 2878 301 3091 3240 3250 3280 3312 3383 3480 355 3557 3569 367 3934 3958 4233 4353 462 4714 4780 4842 4846 4878 4879 5311 5327 54361 5468 552 5624 563 567 572 5724 5734 5743 581 5925 5972 6580 6582 7039 7056 7099 7132 7133 823 8841	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080943	46,XX sex reversal 5	NR2F2	7026	Homo sapiens (human)	Alliance of Genome Resources
DOID:1725	peritoneum cancer	GP1BA PRG2	2811 5553	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050873	follicular lymphoma	CD40 CD40LG CD79B IRF4 KDSR RARRES1 RRAGC	2531 3662 5918 64121 958 959 974	Homo sapiens (human)	Alliance of Genome Resources
DOID:3317	hepatic angiomyolipoma	TSC2	7249	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080770	autosomal dominant beta thalassemia Aliases: inclusion body beta-thalassemia	HBB	3043	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050752	amyotrophic lateral sclerosis type 8 Aliases: ALS8 amyotrophic lateral sclerosis 8	VAPA VAPB	9217 9218	Homo sapiens (human)	Alliance of Genome Resources
DOID:8649	tongue cancer Aliases: malignant neoplasm of tongue	FGFR3 RICTOR	2261 253260	Homo sapiens (human)	Alliance of Genome Resources

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