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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 **3926 - 3950** of **4649** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼	Source
DOID:0080137	multiple endocrine neoplasia type 4 Aliases: Multiple Endocrine Neoplasia, Type IV	CDKN1B	1027	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070376	developmental and epileptic encephalopathy 31B Aliases: DEE31B	DNM1	1759	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060299	complement component 6 deficiency	C6	729	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050797	peroxisomal acyl-CoA oxidase deficiency Aliases: Peroxisomal acyl-coenzyme A oxidase	ACOX1	51	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060158	acquired metabolic disease	IGF2BP1 IGF2BP3 PNPLA2 PNPLA3	10642 10643 57104 80339	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060213	frontotemporal dementia and/or amyotrophic lateral sclerosis 1 Aliases: ALSFTD FTDALS1 FTDMND amyotrophic lateral sclerosis and/or frontotemporal dementia frontotemporal dementia and/or motor neuron disease	C9orf72	203228	Homo sapiens (human)	Alliance of Genome Resources
DOID:2734	keratosis follicularis Aliases: DARIER-WHITE DISEASE Darier's disease	ANXA1	301	Homo sapiens (human)	Alliance of Genome Resources
DOID:12894	Sjogren's syndrome Aliases: Sicca syndrome Sjogren syndrome xerodermosteosis	APOE BDNF BST2 CAST CCR5 CCR7 CD40LG CTLA4 CYP19A1 CYP1A1 E2F1 FAS GDNF HLA-DQA1 HLA-DQB1 HLA-DRB1 HNRNPH1 ICAM1 IFNG IL10 IL13 IL1RN IL23R IL2 IL2RA IL4 IL6 LTA MMP3 MMP9 MUC16 MUC19 MUC5AC NEFL PON1 REG1A SATB1 SELP ST14 STAT4 TGFB1 THBS1 TNF TNFSF13B TRAF3IP2 VIM	10673 10758 1234 1236 149233 1493 1543 1588 1869 2668 283463 3117 3119 3123 3187 3383 3458 348 355 3557 3558 3559 3565 3569 3586 3596 4049 4314 4318 4586 4747 5444 5967 627 6304 6403 6768 6775 684 7040 7057 7124 7431 831 94025 959	Homo sapiens (human)	Alliance of Genome Resources
DOID:14228	oligospermia	TAF7	6879	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060882	renal hypomagnesemia 4 Aliases: HOMG4	EGF	1950	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110671	congenital myasthenic syndrome 6 Aliases: CMS Ia2 CMS1A2 CMS6 CMSEA FIM FIMG2 congenital myasthenic syndrome 6, presynaptic congenital myasthenic syndrome type Ia2 congenital presynaptic myasthenic syndrome associated with episodic apnea familial infantile myasthenia familial infantile myasthenia gravis 2	CHAT	1103	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111648	ectopia lentis with ectopia of pupil Aliases: ectopia lentis et pupillae	ADAMTSL4	54507	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112336	spermatogenic failure 56 Aliases: SPGF56	DNAH10	196385	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110090	short-rib thoracic dysplasia 7 with or without polydactyly Aliases: SRPS5 SRTD7 short rib-polydactyly syndrome type V	WDR35	57539	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050564	autosomal dominant nonsyndromic deafness Aliases: autosomal dominant deafness	COL11A1 EPHA10 GREB1L GRHL2 MAP1B PI4KB THOC1 TRRAP USP48	1301 284656 4131 5298 79977 80000 8295 84196 9984	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060789	hypomyelinating leukodystrophy 4 Aliases: HLD4 MitCHAP60 disease Pelizaeus-Merzbacher-like disease due to HSPD1 mutation mitochondrial HSP60 chaperonopathy	HSPD1	3329	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111070	congenital bile acid synthesis defect 3 Aliases: CBAS3 oxysterol 7-alpha-hydroxylase deficiency	CYP7B1	9420	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070216	familial hyperinsulinemic hypoglycemia 3 Aliases: HHF3 hyperinsulinemic hypoglycemia due to glucokinase deficiency hyperinsulinism due to glucokinase deficiency	GCK	2645	Homo sapiens (human)	Alliance of Genome Resources
DOID:1245	vulva cancer Aliases: Ca vulva Vulvar tumor malignant Vulvar tumor malignant neoplasm of vulva malignant tumor of vulva neoplasm of vulva vulval cancer vulval neoplasm vulvar neoplasm	AKT1 HLA-A HLA-DQB1 HLA-DRB1 MMP13 NOS3	207 3105 3119 3123 4322 4846	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081212	autosomal recessive intellectual developmental disorder 48	SLC6A17	388662	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070215	familial hyperinsulinemic hypoglycemia 4 Aliases: HHF4 hyperinsulinemic hypoglycemia due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency hyperinsulinism due to SCHAD deficiency hyperinsulinism due to glutamodehydrogenase deficiency hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency	HADH	3033	Homo sapiens (human)	Alliance of Genome Resources
DOID:399	tuberculosis	BTNL2 CCL1 CD209 CD274 CYP2B6 CYP2C19 EREG HLA-A HLA-B HLA-DQB1 HLA-DRB1 IFNG IFNGR1 IL22 IRAK3 KIR3DL1 KIR3DS1 KLRK1 NFE2L2 NRG1 PDCD1 SLC11A1 SPP1 TLR1 TLR2 TLR6 TNF TNFRSF1B	10333 11213 1555 1557 2069 22914 29126 30835 3084 3105 3106 3119 3123 3458 3459 3811 3813 4780 50616 5133 56244 6346 6556 6696 7096 7097 7124 7133	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070152	hereditary sensory and autonomic neuropathy type 1A Aliases: HSAN1A hereditary sensory and autonomic neuropathy type IA	SPTLC1	10558	Homo sapiens (human)	Alliance of Genome Resources
DOID:4972	myelodysplastic/myeloproliferative neoplasm Aliases: Myeloproliferative/Myelodysplastic syndromes myelodysplastic myeloproliferative cancer	DIDO1	11083	Homo sapiens (human)	Alliance of Genome Resources
DOID:50	thyroid gland disease	SECISBP2	79048	Homo sapiens (human)	Alliance of Genome Resources

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