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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	July 29, 2024
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **2776 - 2800** of **4621** in total

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Disease ID ▼	Disease Name	Gene Symbol	Gene ID	Organism
DOID:0111343	lateral meningocele syndrome Aliases: Lehman syndrome	COMT LDHA PIK3CA PIK3CB PIK3CD PIK3CG PTDSS1 PTEN SMUG1 VCAN	1312 1462 23583 3939 5290 5291 5293 5294 5728 9791	Homo sapiens (human)
DOID:0111341	primary failure of tooth eruption Aliases: PFE dental noneruption familial posterior openbite malocclusion nonsyndromic primary failure of eruption primary retention of teeth unerupted second primary molar	CYP17A1	1586	Homo sapiens (human)
DOID:0111340	dominant optic atrophy plus syndrome Aliases: DOA+ optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy	ACO2	50	Homo sapiens (human)
DOID:0111338	isolated elevated serum creatine phosphokinase levels Aliases: elevated serum CPK idiopathic hyperCKemia isolated hyperCKemia	ACADM ACADVL AGL ALG14 ALG2 B3GALNT2 B4GALT1 B4GAT1 CHKB COG7 COG8 CPT1A CPT2 CRPPA DAG1 DOLK DPAGT1 DPM1 DPM2 DPM3 ENO3 FKRP FKTN GAA GFPT1 GMPPB GNE HSPG2 INPP5K LARGE1 LDHA LPIN1 OCRL PGAM2 PIGY PKD1 PLA2G6 PNPLA2 POGLUT1 POMGNT1 POMGNT2 POMK POMT1 POMT2 PYGM SDHA SUCLA2 SYNJ1 TMEM165	10020 10585 11041 1120 1374 1376 148789 1605 178 1798 199857 2027 2218 22845 23175 2548 2673 2683 29925 29954 3339 34 37 3939 4952 51763 5224 5310 54344 55624 55858 56983 57104 5837 6389 729920 79147 8398 84197 84342 84892 84992 85365 8803 8813 8818 8867 91949 9215	Homo sapiens (human)
DOID:0111334	congenital leptin deficiency Aliases: LEPD leptin deficiency or dysfunction obesity due to congenital leptin deficiency	LEP	3952	Homo sapiens (human)
DOID:0111330	combined saposin deficiency Aliases: PSAPD combined SAP deficiency encephalopathy due to prosaposin deficiency	ASAH1 PSAP	427 5660	Homo sapiens (human)
DOID:0111313	idiopathic generalized epilepsy 12 Aliases: EIG12	SLC2A1	6513	Homo sapiens (human)
DOID:0111277	mitochondrial trifunctional protein deficiency Aliases: MTPD TFP deficiency TFPD	ACADVL CPT1A CPT2 DHDDS EHHADH GBE1 HADH HADHA HADHB PTEN	1374 1376 1962 2632 3030 3032 3033 37 5728 79947	Homo sapiens (human)
DOID:0111275	speech-language disorder-1 Aliases: CAS articulatory apraxia childhood apraxia of speech developmental apraxia of speech developmental verbal dyspraxia speech and language disorder with orofacial dyspraxia speech-language disorder type 1	ACE ALDH2 B3GAT1 CHI3L1 FASN FCGR3B GALT LGALS1	1116 1636 217 2194 2215 2592 27087 3956	Homo sapiens (human)
DOID:0111272	occipital horn syndrome Aliases: EDS IX Ehlers-Danlos syndrome type 9 Ehlers-Danlos syndrome type IX X-linked cutis laxa	PGK1 SLC35G1	159371 5230	Homo sapiens (human)
DOID:0111271	Oliver-McFarlane syndrome Aliases: OMCS eyelashes long mental retardation long eyelashes-intellectual disability syndrome trichomegaly-retina pigmentary degeneration-dwarfism syndrome	NT5E PNPLA6	10908 4907	Homo sapiens (human)
DOID:0111266	geroderma osteodysplasticum Aliases: GO Walt Disney dwarfism geroderma osteodysplastica gerodermia osteodysplastica	ATP6V0A2 B3GAT3	23545 26229	Homo sapiens (human)
DOID:0111265	Boucher-Neuhauser syndrome Aliases: ataxia-hypogonadism-choroidal dystrophy syndrome	PNPLA6	10908	Homo sapiens (human)
DOID:0111263	combined malonic and methylmalonic acidemia Aliases: CMAMMA combined malonic and methylmalonic aciduria	ACSF3	197322	Homo sapiens (human)
DOID:0111261	fumarase deficiency Aliases: FMRD fumaric aciduria	ACO2 FH	2271 50	Homo sapiens (human)
DOID:0111260	phosphoribosylpyrophosphate synthetase superactivity Aliases: PRPP synthetase superactivity PRPS1 superactivity	PNP PRPS1	4860 5631	Homo sapiens (human)
DOID:0111258	pentosuria Aliases: L-xylulose reductase deficiency L-xylulosuria PNTSU essential pentosuria xylitol dehydrogenase deficiency	DCXR	51181	Homo sapiens (human)
DOID:0111257	gamma-glutamyl transpeptidase deficiency Aliases: GGT deficiency GGT1 deficiency GTG deficiency gamma-glutamyl transferase deficiency glutathionuria	GGT1 PLOD3	2678 8985	Homo sapiens (human)
DOID:0111256	hyperferritinemia-cataract syndrome Aliases: Bonneau-Beaumont syndrome HHCS HRFTC cataract-hyperferritinemia syndrome hereditary hyperferritinemia with congenital cataracts hereditary hyperferritinemia-cataract syndrome hyperferritinemia with or without cataract	GCNT2	2651	Homo sapiens (human)
DOID:0111254	glutaric acidemia I Aliases: GA1 glutaric academia type 1 glutaric aciduria 1 glutaric aciduria type I glutaryl-coA dehydrogenase deficiency glutaryl-coenzyme A dehydrogenase deficiency	GAD1 GCDH	2571 2639	Homo sapiens (human)
DOID:0111253	neurofibromatosis 1 Aliases: NF1 Peripheral Neurofibromatosis Recklinghausen's neurofibromatosis neurofibromatosis type I von Recklinghausen Disease	APRT CD14 CD38 CEL CNTN2 DHDDS ENO2 FH G6PD HSD17B6 IDH1 IDH2 MRC1 PGD PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PTEN SDHB SDHC SDHD SMUG1 SORD	1056 2026 2271 23583 2539 3417 3418 353 4360 5226 5290 5291 5293 5294 5310 5728 6390 6391 6392 6652 6900 79947 8630 929 952	Homo sapiens (human)
DOID:0111252	vestibular schwannomatosis Aliases: ACN BANF NF2 NF2-related schwannomatosis SWN3 SWNV acoustic neurofibromatosis bilateral acoustic neurinoma bilateral acoustic neurofibromatosis bilateral acoustic schwannomas central neurofibromatosis familial acoustic neuromas neurofibromatosis 2 neurofibromatosis type II schwannomatosis 3	CAT CD44 CYP19A1 CYP2E1 FASN MTAP PIK3CA PIK3CB PIK3CD PIK3CG PTEN PTGDS PTGS2 SIRT2 TMEM165	1571 1588 2194 22933 4507 5290 5291 5293 5294 55858 5728 5730 5743 847 960	Homo sapiens (human)
DOID:0111248	cerebrocostomandibular syndrome Aliases: CCM syndrome CCMS cerebro-costo-mandibular syndrome rib gap defects with micrognathia	COG1	9382	Homo sapiens (human)
DOID:0111246	amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 Aliases: ALS-PDC Amyotrophic lateral sclerosis-parkinsonism-dementia of Guam syndrome Guam disease Lytico-Bodig disease PDALS amyotrophic lateral sclerosis-parkinsonism/dementia complex of Guam parkinsonism-dementia-ALS complex	PLA2G4A PTGS2	5321 5743	Homo sapiens (human)
DOID:0111242	congenital muscular dystrophy-dystroglycanopathy type A6 Aliases: MDDGA6 Walker-Warburg syndrome or muscle-eye-brain disease, LARGE-related congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A6	LARGE1	9215	Homo sapiens (human)

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