GlyCosmos Portal

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

Displaying entries **9251 - 9275** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼	Source
DOID:2799	bronchiolitis obliterans Aliases: Bronchiolitis exudativa Bronchiolitis fibrosa obliterans Obliterative bronchiolitis	ACE CCL2 CCL5 CCL7 CD86 CSF2 EDN1 GZMB IL13 IL1RN IL4 MBL2 MMP9 MUC1 NOD2 NOS2 NOS3 SFTPD TLR9	1437 1636 1906 3002 3557 3565 3596 4153 4318 4582 4843 4846 54106 6347 6352 6354 64127 6441 942	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110501	autosomal recessive nonsyndromic deafness 44 Aliases: DFNB44 autosomal recessive deafness 44	ADCY1	107	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110157	Charcot-Marie-Tooth disease type 2J Aliases: CMT2J Charcot-Marie-Tooth disease type 2 with hearing loss and pupillary abnormalities Charcot-Marie-Tooth neuropathy type 2J	MPZ	4359	Homo sapiens (human)	Alliance of Genome Resources
DOID:13365	reading disorder	CNTNAP2	26047	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111918	spermatogenic failure 40 Aliases: SPGF40	CFAP65	255101	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110255	cataract 5 multiple types Aliases: CTRCT5	HSF4	3299	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050719	cerebral folate receptor alpha deficiency Aliases: Neurodegeneration due to cerebral folate transport deficiency	FOLR1	2348	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111753	infantile hypertrophic cardiomyopathy	ELAC2	60528	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110428	dilated cardiomyopathy 1AA Aliases: CMD1AA dilated cardiomyopathy 1AA with or without left ventricular noncompaction	ACTN2	88	Homo sapiens (human)	Alliance of Genome Resources
DOID:620	blood protein disease Aliases: blood protein disorder	ALB	213	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060654	lethal congenital contracture syndrome 4	MYBPC1	4604	Homo sapiens (human)	Alliance of Genome Resources
DOID:12297	Vogt-Koyanagi-Harada disease Aliases: Harada's disease Vogt-Koyanagi syndrome uveomeningoencephalitic syndrome	HLA-DQA1 HLA-DQB1 HLA-DRB1 IFNG ITGB2 STAT4 TNF	3117 3119 3123 3458 3689 6775 7124	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080337	mitochondrial DNA depletion syndrome 15	TFAM	7019	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111238	congenital muscular dystrophy-dystroglycanopathy type A13 Aliases: MDDGA13 Walker-Warburg syndrome or muscle-eye-brain disease, B3GNT1-related Walker-Warburg syndrome or muscle-eye-brain disease, B4GNT1-related congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A13	B4GAT1	11041	Homo sapiens (human)	Alliance of Genome Resources
DOID:11823	hepatorenal syndrome	TLR4 TNF	7099 7124	Homo sapiens (human)	Alliance of Genome Resources
DOID:9952	acute lymphoblastic leukemia Aliases: ALL acute lymphoblastic leukaemia acute lymphocytic leukaemia precursor lymphoblastic lymphoma/leukemia	ABCB1 ABCC2 ABCG2 ABO BAX BCR CAST CD46 CD79B CD86 CFB CREBBP CSF3 CSPG4 CYP1A1 CYP3A5 DPYD ENG EZH2 F3 FAS FGA FLT3 GNB1 GPI GPX1 HDAC1 HDAC2 HDAC4 HFE HK1 HLA-DQA1 HLA-DQB1 IFNG IKZF1 IL10 IRF4 KDM2B KDM3B KDM6A KMT2A KRAS MEFV MTR MYC NBN NOS3 NOTCH3 NRAS NUP214 PON1 PTEN SNRPE TERT TYMS XRCC1	10320 1244 1387 1440 1464 1543 1577 1806 2022 2146 2152 2243 2322 2782 28 2821 2876 3065 3066 3077 3098 3117 3119 3458 355 3586 3662 3845 4179 4210 4297 4548 4609 4683 4846 4854 4893 51780 5243 5444 5728 581 613 629 6635 7015 7298 7403 7515 8021 831 84678 942 9429 974 9759	Homo sapiens (human)	Alliance of Genome Resources
DOID:12217	Lewy body dementia Aliases: Dementia with Lewy bodies Diffuse Lewy body disease Lewy body disease Senile dementia of the Lewy body type	ANXA5 APOE CCR1 CHRNA4 CHRNA7 ELK1 GBA1 GPR37 IGF1R IGF2 KLK6 MAP2 NEFL NGFR NOS2 PCNA SNCA SNCB SNCG TARDBP	1137 1139 1230 2002 23435 2629 2861 308 348 3480 3481 4133 4747 4804 4843 5111 5653 6620 6622 6623	Homo sapiens (human)	Alliance of Genome Resources
DOID:13100	intracranial vasospasm	CCL2 RYR1 TNC	3371 6261 6347	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070124	congenital nongoitrous hypothyroidism 2 Aliases: CHNG2 congenital hypothyroidism due to thyroid dysgenesis or hypoplasia	PAX8	7849	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080832	mild cognitive impairment	AGER NEFL SLC6A3	177 4747 6531	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050968	autosomal dominant cerebellar ataxia, deafness and narcolepsy	DNMT1	1786	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081102	familial gestational hyperthyroidism	TSHR	7253	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081395	Harel-Yoon syndrome Aliases: Ocular anomalies-axonal neuropathy-developmental delay syndrome	ATAD3A	55210	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111815	low molecular weight proteinuria with hypercalciuric nephrocalcinosis	CLCN3 CLCN5	1182 1184	Homo sapiens (human)	Alliance of Genome Resources
DOID:4928	intrahepatic cholangiocarcinoma Aliases: Intrahepatic bile duct carcinoma peripheral Cholangiocarcinoma	ARID1A BAP1 FAS FASLG HSP90AA1 HSP90AB1 IDH1 IDH2 KRAS LCN2 LRP1B PBRM1 PTEN RNF43 RUNX1 SMAD4 TEP1	3320 3326 3417 3418 355 356 3845 3934 4089 53353 54894 55193 5728 7011 8289 8314 861	Homo sapiens (human)	Alliance of Genome Resources

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