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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 **5226 - 5250** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲	Source
DOID:0112135	severe congenital neutropenia 8 Aliases: SCN8 SDSL Shwachman-Diamond syndrome-like autosomal dominant severe congenital neutropenia 8 with or without pancreatic dysfunction and/or neurological abnormalities	SRP54	6729	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110448	dilated cardiomyopathy 1HH Aliases: CMD1HH	BAG3	9531	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050156	idiopathic pulmonary fibrosis Aliases: FIBROCYSTIC PULMONARY DYSPLASIA IDIOPATHIC PULMONARY FIBROSIS, FAMILIAL cryptogenic fibrosing alveolitis	AKT1 APOA1 BRD4 DDR1 EHMT2 EP300 F3 FGFR2 FOSL2 HLA-DRB1 IL1RL1 IL2RA MMP1 MMP3 MUC1 MUC5B NTRK2 PARP1 PTGS2 SETD2 SFTPA2 SMAD6 STAT3 TERT TFPI THBD TNF	10919 142 2033 207 2152 2263 23476 2355 29072 3123 335 3559 4091 4312 4314 4582 4915 5743 6774 7015 7035 7056 7124 727897 729238 780 9173	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050604	acrocapitofemoral dysplasia	IHH	3549	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090045	childhood onset GLUT1 deficiency syndrome 2	SLC2A1	6513	Homo sapiens (human)	Alliance of Genome Resources
DOID:4166	syphilis Aliases: syphilitic chancre	CCR5 KIR3DS1 NEFL TREM2	1234 3813 4747 54209	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081288	white sponge nevus 2	KRT13	3860	Homo sapiens (human)	Alliance of Genome Resources
DOID:9955	hypoplastic left heart syndrome	CHCHD3 CHCHD6 FOXP1 MYH7 SAP130	27086 4625 54927 79595 84303	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060587	Noonan syndrome 9 Aliases: NS9	SOS2	6655	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110814	hereditary spastic paraplegia 63 Aliases: SPG63 autosomal recessive spastic paraplegia 63 spastic paraplegia 63	AMPD2	271	Homo sapiens (human)	Alliance of Genome Resources
DOID:11263	chlamydia Aliases: Chlamydia trachomatis infectious disease Chlamydial Infection chlamydial disease	TGFB1	7040	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070415	brachycephaly, trichomegaly, and developmental delay Aliases: BTDD MCINS Macinnes syndrome	RPS23	6228	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111020	cone-rod dystrophy 9 Aliases: CORD9	ADAM9	8754	Homo sapiens (human)	Alliance of Genome Resources
DOID:10322	berylliosis Aliases: beryllium poisoning	BTNL2 CCR5 TGFB1	1234 56244 7040	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060178	familial hemiplegic migraine	ATP1A1 ATP1A2 CACNA1A	476 477 773	Homo sapiens (human)	Alliance of Genome Resources
DOID:11512	Budd-Chiari syndrome Aliases: hepatic vein thrombosis	APOA1 F5	2153 335	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090075	hypogonadotropic hypogonadism 15 with or without anosmia	HS6ST1	9394	Homo sapiens (human)	Alliance of Genome Resources
DOID:5804	discrete subaortic stenosis	FADS2	9415	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110876	holoprosencephaly 7 Aliases: HPE7	PTCH1	5727	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111315	idiopathic generalized epilepsy 14 Aliases: EIG14	SLC12A5	57468	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080566	congenital disorder of glycosylation In Aliases: congenital disorder of glycosylation 1n	RFT1	91869	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0060366	Hennekam syndrome Aliases: Hennekam lymphangiectasia-lymphedema syndrome lymphedem-lymphangiectasia-intellectual disability syndrome	ADAMTS3 CCBE1 FAT4	147372 79633 9508	Homo sapiens (human)	Alliance of Genome Resources
DOID:4195	hyperglycemia	ADRB1 AKR1B1 AVP CBL CCL11 CYP11A1 CYP2C9 DRD1 EPAS1 F2 F7 GCK GIPR GLP1R GPX1 HCRTR2 HK2 HK3 HKDC1 HP HRH3 HSPD1 HSPG2 HTR2A ICAM1 IL1A IL1RN IL6 ITGAM ITGAV LDHA LEPR MMP9 PCSK1 PDX1 PKLR PLA2G4A PON1 PPARGC1A PRNP PTCH1 SDC1 SOD1 TF TSHB	10891 11255 153 1559 1583 1812 2034 2147 2155 231 2645 2696 2740 2876 3062 3099 3101 3240 3329 3339 3356 3383 3552 3557 3569 3651 3684 3685 3939 3953 4318 5122 5313 5321 5444 551 5621 5727 6356 6382 6647 7018 7252 80201 867	Homo sapiens (human)	Alliance of Genome Resources
DOID:11383	cryptorchidism Aliases: Cryptorchism Undescended testicle Undescended testis undescended testicles	ADAMTS16 ANXA5 AR ESR1 FAS GFER HOXD13 HSF1 IGF1R NGF RXFP2 STS SYNE2	122042 170690 2099 23224 2671 308 3239 3297 3480 355 367 412 4803	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112277	immunodeficiency 79 Aliases: IMD79	CD4	920	Homo sapiens (human)	Alliance of Genome Resources

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