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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 **6926 - 6950** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲	Source
DOID:0060832	Griscelli syndrome type 1 Aliases: GS1 Griscelli syndrome with neurological impairment Griscelli syndrome, cutaneous and neurological type Griscelli-Prunieras syndrome type 1 hypopigmentation-neurologic impairment syndrome	MYO5A	4644	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060076	estrogen-receptor negative breast cancer	CYB5R3	1727	Homo sapiens (human)	Alliance of Genome Resources
DOID:9775	diastolic heart failure	ACE LEPR	1636 3953	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111447	progressive myoclonus epilepsy 7 Aliases: EPM7 MEAK Myoclonus epilepsy and ataxia due to potassium channel mutation PME type 7 Progressive myoclonic epilepsy due to KV3.1 deficiency Progressive myoclonus epilepsy type 7	KCNC1	3746	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050463	campomelic dysplasia Aliases: Acampomelic Campomelic Dysplasia	SOX9	6662	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060307	autosomal dominant intellectual developmental disorder Aliases: autosomal dominant mental retardation autosomal dominant non-syndromic mental retardation	AP2M1 AUTS2 CAMK2G DIP2B GRIA1 HNRNPC KMT2B LMAN2L MBD5 MED13 RFX7 SET SETD2 SRRM2 TAF4 TLK2 TRIO ZNF292	11011 1173 23036 23524 26053 2890 29072 3183 55777 57609 6418 64864 6874 7204 81562 818 9757 9969	Homo sapiens (human)	Alliance of Genome Resources
DOID:77	gastrointestinal system disease Aliases: GIT disease Gastroenteropathy alimentary system disease digestive system disorder gastrointestinal disease gastrointestinal disorder	AGER IGF2 MECP2 TF VCAM1	177 3481 4204 7018 7412	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110398	retinitis pigmentosa 51 Aliases: RP51	TTC8	123016	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111967	immunodeficiency 54 Aliases: IMD54 NKCD familial isolated natural killer cell deficiency primary immunodeficiency due to MCM4 deficiency primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency	MCM4	4173	Homo sapiens (human)	Alliance of Genome Resources
DOID:10608	celiac disease Aliases: celiac sprue coeliac disease idiopathic steatorrhea	CD14 CTLA4 F2 HLA-DQA1 HLA-DQB1 HLA-DRB1 ICOS IFNG IL10 IL21 IL23R IL6 PON1 PON3	149233 1493 2147 29851 3117 3119 3123 3458 3569 3586 5444 5446 59067 929	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080464	developmental and epileptic encephalopathy 53 Aliases: DEE53 early infantile epileptic encephalopathy 53	SYNJ1	8867	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060438	Cole-Carpenter syndrome	P4HB SEC24D	5034 9871	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070394	developmental and epileptic encephalopathy 108 Aliases: DEE108 early infantile epileptic encephalopathy 108	MAST3	23031	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080489	GM1 gangliosidosis type 3 Aliases: adult-onset GM1 gangliosidosis	GLB1	2720	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0070303	multiple epiphyseal dysplasia 1 Aliases: EDM1 MED1 multiple epiphyseal dysplasia COMP-related polyepiphyseal dysplasia type 1	COMP	1311	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070202	familial partial lipodystrophy type 2 Aliases: FPLD2 familial lipodystrophy of limbs and lower trunk familial partial lipodystrophy Dunnigan type reverse partial lipodystrophy	LMNA LMNB1 LMNB2	4000 4001 84823	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112379	muscular dystrophy-dystroglycanopathy type B4 Aliases: MDDGB4 congenital muscular dystrophy FKTN-related	FKTN	2218	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050630	Aland Island eye disease Aliases: FORSIUS-ERIKSSON TYPE OCULAR ALBINISM Forsius-Eriksson syndrome	CACNA1F	778	Homo sapiens (human)	Alliance of Genome Resources
DOID:863	nervous system disease	ATP1A1 ATP1A2 KIF1B KIF1C	10749 23095 476 477	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050567	orofacial cleft	ACSS2 CRISPLD2 LOXHD1 MYH9 SPECC1L	125336 23384 4627 55902 83716	Homo sapiens (human)	Alliance of Genome Resources
DOID:9368	keratoconjunctivitis	MUC16 MUC5AC TLR2	4586 7097 94025	Homo sapiens (human)	Alliance of Genome Resources
DOID:13533	osteopetrosis Aliases: Albers-Schonberg disease marble bone	CLCN3 CLCN5 CSF1 GHR LRRK1 MITF PLEKHM1 SLC4A2	1182 1184 1435 2690 4286 6522 79705 9842	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110859	polycystic kidney disease 2 Aliases: Apkd2 Pkd2 Polycystic Kidney Disease, Adult, Type II	PKD2 PKD2L1 PKD2L2	27039 5311 9033	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080188	chronic myelomonocytic leukemia	ASXL1 CSF3R EZH2 KDM6A TET2	1441 171023 2146 54790 7403	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111813	syndactyly type 8 Aliases: fusion of metacarpals 4 and 5 metacarpal 4-5 fusion	FGF16	8823	Homo sapiens (human)	Alliance of Genome Resources

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