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GlyCosmos Diseases

List of diseases involving glycan related genes. The information of each database of Glyco-Disease Genes Database (GDGDB), DisGeNET, and Alliance of Genome Resources is integrated into one list.

Source	Last Updated
Alliance of Genome Resources	July 29, 2024
DisGeNET	July 29, 2024
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **4926 - 4950** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▼	Organism
DOID:114	heart disease	Gpi1 Gsk3b Kat2a Kat2b Ppargc1a	14534 14751 18519 19017 56637	Mus musculus (house mouse)
DOID:11716	prediabetes syndrome Aliases: Prediabetes impaired glucose tolerance prediabetic state	Gcg Kcnj11 Ppargc1a	14526 16514 19017	Mus musculus (house mouse)
DOID:0080520	Tn polyagglutination syndrome Aliases: galactosyltransferase deficiency	B3GLCT C1GALT1 C1GALT1C1	145173 29071 56913	Homo sapiens (human)
DOID:0060055	popliteal pterygium syndrome Aliases: facio-genito-popliteal syndrome popliteal web syndrome	B3GLCT POFUT2	145173 23275	Homo sapiens (human)
DOID:0080201	Peters plus syndrome Aliases: Krause-Kivlin syndrome Peters anomaly-short limb dwarfism syndrome Peters-plus syndrome	B3GALT1 B3GLCT POFUT2	145173 23275 8708	Homo sapiens (human)
DOID:0070128	congenital nongoitrous hypothyroidism 6 Aliases: CHNG6	ACHE ASAH1 B3GLCT EFNA5 ENO2 G6PD	145173 1946 2026 2539 427 43	Homo sapiens (human)
DOID:0070125	congenital nongoitrous hypothyroidism 5 Aliases: CHNG5	ACHE ASAH1 B3GLCT EFNA5 ENO2 G6PD	145173 1946 2026 2539 427 43	Homo sapiens (human)
DOID:0111140	IGSF1 deficiency syndrome Aliases: CHTE X-linked central congenital hypothyroidism with late-onset macroorchidism X-linked central congenital hypothyroidism with late-onset testicular enlargement central hypothyroidism and testicular enlargement	ACHE ASAH1 B3GLCT EFNA5 ENO2 G6PD	145173 1946 2026 2539 427 43	Homo sapiens (human)
DOID:0070126	congenital nongoitrous hypothyroidism 1 Aliases: CHNG1 TSH resistance	ACHE ASAH1 B3GLCT EFNA5 ENO2 G6PD	145173 1946 2026 2539 427 43	Homo sapiens (human)
DOID:0070124	congenital nongoitrous hypothyroidism 2 Aliases: CHNG2 congenital hypothyroidism due to thyroid dysgenesis or hypoplasia	ACHE ASAH1 B3GLCT EFNA5 ENO2 G6PD	145173 1946 2026 2539 427 43	Homo sapiens (human)
DOID:0070127	congenital nongoitrous hypothyroidism 3 Aliases: CHNG3	ACHE ASAH1 B3GLCT EFNA5 ENO2 G6PD	145173 1946 2026 2539 427 43	Homo sapiens (human)
DOID:0070123	congenital nongoitrous hypothyroidism 4 Aliases: CHNG4 isolated thyrotropin deficiency	ACE ACHE ASAH1 B3GLCT EFNA5 ENO2 G6PD HJV	145173 148738 1636 1946 2026 2539 427 43	Homo sapiens (human)
DOID:1407	anterior uveitis	LACC1 TLR2 TLR4 TNF	144811 7097 7099 7124	Homo sapiens (human)
DOID:1787	pericarditis	CAT LACC1 NT5E PMM2 SMUG1	144811 23583 4907 5373 847	Homo sapiens (human)
DOID:0050486	exanthem	ALPP BST2 CD44 CLEC7A CYP27B1 CYP2C9 CYP2E1 ENO1 ENOSF1 ENPP1 GLUL HPGDS IDH1 IDH2 KDSR LACC1 LDHB LGALS3 LGALS9 LYZ PIK3CA PIK3CB PIK3CD PIK3CG PTEN PTGS2 SDHA SDHB SDHC SDHD SIRT6 SMUG1 TPI1	144811 1559 1571 1594 2023 23583 250 2531 27306 2752 3417 3418 3945 3958 3965 4069 51548 5167 5290 5291 5293 5294 55556 5728 5743 6389 6390 6391 6392 64581 684 7167 960	Homo sapiens (human)
DOID:0110959	Gaucher's disease type III Aliases: GD III Gaucher Disease, Chronic Neuronopathic Type Gaucher Disease, Juvenile And Adult, Cerebral Gaucher Disease, Subacute Neuronopathic Type	Gba1	14466	Mus musculus (house mouse)
DOID:0060892	late onset Parkinson's disease Aliases: late onset Parkinson disease	Gba1	14466	Mus musculus (house mouse)
DOID:0110958	Gaucher's disease type II Aliases: GD II GD2 Gaucher Disease, Acute Neuronopathic Type Infantile Cerebral Gaucher Disease	Gba1	14466	Mus musculus (house mouse)
DOID:0110960	Gaucher's disease perinatal lethal Aliases: Fetal Gaucher Disease Gaucher Disease, Collodion Type	Gba1	14466	Mus musculus (house mouse)
DOID:0050474	Netherton syndrome	Gba1	14466	Mus musculus (house mouse)
DOID:0110957	Gaucher's disease type I Aliases: Acid Beta-Glucosidase Deficiency GD I GD1 Gaucher Disease, Noncerebral Juvenile Gba Deficiency Glucocerebrosidase Deficiency	Gba1	14466	Mus musculus (house mouse)
DOID:0112250	Gaucher's disease type IIIC Aliases: GD3C Gaucher disease type 3C Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome Gaucher-like disease cardiovascular Gaucher disease	Gba1	14466	Mus musculus (house mouse)
DOID:1926	Gaucher's disease Aliases: Gaucher disease acid beta-glucosidase deficiency glocucerebrosidase deficiency glucosylceramide beta-glucosidase deficiency kerasin thesaurismosis	Gba1 Tnf	14466 21926	Mus musculus (house mouse)
DOID:12217	Lewy body dementia Aliases: Dementia with Lewy bodies Diffuse Lewy body disease Lewy body disease Senile dementia of the Lewy body type	Gba1 Igf2 Pcna	14466 16002 18538	Mus musculus (house mouse)
DOID:0050827	rheumatic heart disease Aliases: rheumatic carditis	Gapdh	14433	Mus musculus (house mouse)

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