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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 **326 - 350** of **4649** in total

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Disease ID ▲	Disease Name	Gene Symbol	Gene ID	Organism	Source
DOID:0050994	episodic ataxia type 6	SLC1A1 SLC1A3 SLC1A4 SLC1A5 SLC1A6 SLC1A7	6505 6507 6509 6510 6511 6512	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050997	cerebellar ataxia, mental retardation and dysequlibrium syndrome Aliases: CAMRQ Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 1 (CAMRQ1) Uner Tan syndrome VLDLR Cerebellar Hypoplasia	TUBB1 TUBB2A TUBB2B TUBB3 TUBB4A TUBB4B TUBB6 TUBB	10381 10382 10383 203068 347733 7280 81027 84617	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050998	nonprogressive cerebellar ataxia with mental retardation	CAMTA1	23261	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060000	infective endocarditis	TLR6	10333	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060001	withdrawal disorder	AGO2 BDNF CAMK4 COMT CREB1 DRD1 FMR1 FOSB GAD1 GAD2 GRIA1 GRIN2A GRIN2B HTR1A HTR2A HTR2C KCNMA1 KCNU1 KDM4C NGF OPRD1 OPRK1 OPRM1 PRL PTGER3 SLC6A1	1312 1385 157855 1812 23081 2332 2354 2571 2572 27161 2890 2903 2904 3350 3356 3358 3778 4803 4985 4986 4988 5617 5733 627 6529 814	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060009	MHC class I deficiency Aliases: BLS, TYPE I BLSI HLA CLASS I DEFICIENCY bare lymphocyte syndrome type I	TAP1	6890	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060010	Omenn syndrome Aliases: combined immunodeficiency with hypereosinophilia	DCLRE1C	64421	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060013	X-linked severe combined immunodeficiency Aliases: SCID-X1 XSCID gamma chain deficiency thymic epithelial hypoplasia	IL2RG	3561	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060019	coronin-1A deficiency	CORO1A	11151	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060020	reticular dysgenesis Aliases: De Vaal disease	AK2	204	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060022	CD40 ligand deficiency Aliases: HIGMX-1 X-linked hyper-IgM syndrome	CD40LG	959	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060023	immunodeficiency with hyper IgM type 3 Aliases: CD40 deficiency HIGM3 hyper-IgM syndrome due to CD40 deficiency type 3 hyper-IgM immunodeficiency	CD40	958	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060025	immunoglobulin alpha deficiency Aliases: IgA deficiency gamma-A-globulin deficiency	CTLA4 HLA-DQB1 ICOS	1493 29851 3119	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060036	intrinsic cardiomyopathy	CCT3 CCT4 CCT6A DAAM1 DSG2 MRPS33 MYH7 NPPA RPL27A RPS3	10575 1829 23002 4625 4878 51650 6157 6188 7203 908	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060037	developmental disorder of mental health	ASH1L DLG1 GABRB1 GABRB2 GABRB3 GABRD GABRP GABRQ GABRR1 GABRR2 GABRR3 GIGYF2 GRIN2A GRIN2B GRIN2C GRIN2D NAA15 NAA16 NCKAP1 NCOR1 NCOR2 PARD3 PLXNB1 PLXNB2 PLXNB3 PLXND1 RASAL2 RASAL3 RING1 RNF2 RUNX3 SIN3A SIN3B SRCAP SYNGAP1 TACR1 TCF12 TCF3 TCF4	10787 10847 1739 200959 23129 23309 23654 2560 2561 2562 2563 2568 2569 2570 25942 26058 2903 2904 2905 2906 5364 5365 55870 55879 56288 6015 6045 64926 6869 6925 6929 6938 79612 80155 864 8831 9462 9611 9612	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060038	specific developmental disorder	BCL11A BCL11B FOXP1 FOXP2 FOXP4	116113 27086 53335 64919 93986	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060040	pervasive developmental disorder Aliases: Pervasive Child Development Disorders pervasive development disorder	DRD4 DRD5	1815 1816	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060041	autism spectrum disorder	ABCA3 ARHGAP32 ASH1L AVPR1B BAIAP2 BCL11A BDNF BORCS8-MEF2B BRINP1 CADM2 CAMK2A CASK CFL1 CHD1 CHD2 CHD6 CHD7 CHD8 CHD9 CHRNB2 CNTNAP1 CNTNAP2 CNTNAP3 CNTNAP3B CNTNAP4 CNTNAP5 COMT CREB1 CREBBP CSDE1 CTNNB1 CTNND1 CTNND2 CUL3 CYFIP1 DLGAP4 DSCAM DSCAML1 DYRK1A EIF4B EIF4E ELP2 EN2 EXT1 FMR1 FOXP2 FXR1 FXR2 GABRB3 GAD1 GAD2 GRIN1 HTR2A HTR2B HTR2C IHH ITGA4 ITPR3 KDM5B KMT5B KMT5C LAMC1 LAMC2 LAMC3 LRBA LRFN2 MAOA MBD5 MBD6 MEF2A MEF2B MEF2C MEF2D MET MMP9 MOCOS NAA15 NAA16 NBEA NDST1 NDST2 NDST3 NDST4 NLGN1 NLGN2 NLGN3 NLGN4X NLGN4Y NR3C2 NRCAM NRP2 NRXN1 NRXN2 NRXN3 OPRL1 OPRM1 PAK2 PDGFRB PIANP PKP2 PKP4 POGZ PREX1 PRICKLE1 PTEN RIMS1 RIMS2 SCAMP1 SCAMP2 SCN1A SCN2A SHANK1 SHANK2 SHH SLC25A12 SLC6A2 SLC6A3 SLC6A4 SLC7A5 SLC9A9 SRSF11 SSBP2 SSBP3 SSBP4 SYN1 SYN2 SYN3 SYNGAP1 TAOK1 TAOK2 TBR1 TCF20 TMPRSS9 TPH1 TRPC4 TRPC5 TSC1 TSC2 TSHZ3 UBE3A VRK3 WDFY3 WDR75 ZNF280B ZNF280D	100271849 10066 10319 10458 10716 1072 10765 1105 1106 1141 114785 129684 1312 1385 1387 140883 144165 1499 1500 1501 1620 170463 1826 1859 196500 1975 1977 2020 21 2131 22829 22839 22871 22941 22999 23001 23126 23191 2332 23635 23648 253559 2562 2571 2572 26047 26960 285195 2902 3340 3356 3357 3358 3549 360200 3676 3710 3915 3918 4128 4205 4207 4208 4209 4233 4306 4318 4897 4987 4988 5062 50944 51111 51231 5159 5318 53335 54413 54816 55034 55250 553 55636 55777 55870 5728 57453 57497 57502 57551 57555 57580 57616 57680 627 6323 6326 64579 6469 6530 6531 6532 6853 6854 6942 7166 7223 7224 7248 7249 728577 7337 7812 79612 79937 80155 80205 8087 8140 815 8224 84128 84181 8452 84787 8502 8506 8509 85445 8573 8604 8828 8831 9295 9344 9348 9369 9378 9379 93986 9513 9522 9699 9743 987	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060050	autoimmune disease of blood	C1GALT1	56913	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060058	lymphoma Aliases: lymphoid cancer	ATM CHD4 MALT1 PAFAH1B2 RELA	10892 1108 472 5049 5970	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060060	non-Hodgkin lymphoma	ANXA7 ATR CD40 CD79B CTLA4 FCGR2A GPX1 ICAM1 IGF2R KMT2A MALT1 MTSS1 PON1 PRF1 S1PR2 TMEM260	10892 1493 2212 2876 310 3383 3482 4297 5444 545 54916 5551 9294 958 974 9788	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060061	primary cutaneous T-cell non-Hodgkin lymphoma Aliases: cutaneous T cell lymphoma cutaneous T-cell lymphoma	CCR6 IL4	1235 3565	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060062	familial juvenile hyperuricemic nephropathy	MUC1 REN UMOD	4582 5972 7369	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060071	pre-malignant neoplasm	ACE ATM BAX CASP9 FAS GLI1 GLI3 INSR MAPK9 MUC2 PPM1D SFTPD SHH SMAD4 SMO STAT3 TP53	1636 2735 2737 355 3643 4089 4583 472 5601 581 6441 6469 6608 6774 7157 842 8493	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060072	benign neoplasm	DLG1 LATS1 LATS2 SCRIB	1739 23513 26524 9113	Homo sapiens (human)	Alliance of Genome Resources

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