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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 **14976 - 15000** of **15957** in total

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Disease ID	Disease Name	Gene Symbol ▼	Gene ID	Organism	Source
DOID:0070340	classic citrullinemia	ASS1	445	Homo sapiens (human)	Alliance of Genome Resources
DOID:9273	citrullinemia Aliases: ASS deficiency deficiency of citrulline-aspartate ligase	ASS1 SLC25A12 SLC25A13	10165 445 8604	Homo sapiens (human)	Alliance of Genome Resources
DOID:4239	alveolar soft part sarcoma	ASPSCR1	79058	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070280	primary autosomal recessive microcephaly 5 Aliases: MCPH5	ASPM	259266	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070296	primary autosomal recessive microcephaly Aliases: MCPH	ASPM DYNC1I2 KIF14 KNL1 LMNB1 LMNB2 NCAPD2 NCAPD3 PDCD6IP TRAPPC14 WDR62	10015 1781 23310 259266 284403 4001 55262 57082 84823 9918 9928	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070515	chromosome 16p11.2 deletion syndrome, 593-kb Aliases: Proximal 16p11.2 microdeletion syndrome	ASPH ATXN2 ATXN2L CDIPT DOC2B KIF3C PAGR1 PPP4C TAOK1 TAOK2 TBX6	10423 11273 3797 444 5531 57551 6311 6911 79447 8447 9344	Homo sapiens (human)	Alliance of Genome Resources
DOID:10123	pigmentation disease	ASIP ELN HERC2 IRF4 KITLG MC1R MMP9 OCA2 SLC24A4 SLC45A2 TPCN2 TYR TYRP1	123041 2006 219931 3662 4157 4254 4318 434 4948 51151 7299 7306 8924	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080231	autosomal dominant intellectual developmental disorder 52 Aliases: autosomal dominant mental retardation 52	ASH1L	55870	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060037	developmental disorder of mental health	ASH1L DLG1 GABRB1 GABRB2 GABRB3 GABRD GABRP GABRQ GABRR1 GABRR2 GABRR3 GIGYF2 GRIN2A GRIN2B GRIN2C GRIN2D NAA15 NAA16 NCKAP1 NCOR1 NCOR2 PARD3 PLXNB1 PLXNB2 PLXNB3 PLXND1 RASAL2 RASAL3 RING1 RNF2 RUNX3 SIN3A SIN3B SRCAP SYNGAP1 TACR1 TCF12 TCF3 TCF4	10787 10847 1739 200959 23129 23309 23654 2560 2561 2562 2563 2568 2569 2570 25942 26058 2903 2904 2905 2906 5364 5365 55870 55879 56288 6015 6045 64926 6869 6925 6929 6938 79612 80155 864 8831 9462 9611 9612	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060308	autosomal recessive intellectual developmental disorder Aliases: autosomal recessive mental retardation autosomal recessive non-syndromic mental retardation	ASCC3 CNTNAP1 CNTNAP2 CNTNAP3 CNTNAP3B CNTNAP4 CNTNAP5 TPR ZC3H14	10973 129684 26047 7175 728577 79882 79937 8506 85445	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050464	Farber lipogranulomatosis Aliases: Farber disease N-laurylsphingosine deacylase deficiency acid ceramidase deficiency	ASAH1	427	Homo sapiens (human)	Glyco-Disease Genes Database Glyco-Disease Genes Database Glyco-Disease Genes Database Glyco-Disease Genes Database Glyco-Disease Genes Database Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0111527	spinal muscular atrophy with progressive myoclonic epilepsy Aliases: Jankovic-Rivera syndrome SMA-PME SMAPME hereditary myoclonus-progressive distal muscular atrophy syndrome	ASAH1	427	Homo sapiens (human)	Alliance of Genome Resources
DOID:1927	sphingolipidosis Aliases: sphingolipidoses	ASAH1 SPNS1 SPNS2	124976 427 83985	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080468	developmental and epileptic encephalopathy 1 Aliases: DEE1 X-linked infantile spasm syndrome 1 early infantile epileptic encephalopathy 1	ARX	170302	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112238	X-linked lissencephaly 2 Aliases: X-linked lissencephaly with abnormal genitalia X-linked lissencephaly with ambiguous genitalia X-linked lissencephaly-corpus callosum agenesis-genital anomalies syndrome XLAG XLAG (X-linked lissencephaly with abnormal genitalia) syndrome XLIS2	ARX	170302	Homo sapiens (human)	Alliance of Genome Resources
DOID:14744	Partington syndrome Aliases: X-linked Russell-Silver syndrome	ARX	170302	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112151	corpus callosum agenesis-abnormal genitalia syndrome Aliases: ACC with abnormal genitalia Proud syndrome Proud-Levine-Carpenter syndrome corpus callosum agenesis with abnormal genitalia microcephaly-corpus callosum agenesis-abnormal genitalia syndrome	ARX	170302	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112021	non-syndromic X-linked intellectual disability ARX-related Aliases: ARX-related intellectual disability MRXARX X-linked mental retardation 29 X-linked mental retardation 29 and others X-linked mental retardation 32 X-linked mental retardation 33 X-linked mental retardation 38 X-linked mental retardation 43 X-linked mental retardation 52 X-linked mental retardation 54 X-linked mental retardation 76 X-linked mental retardation 87 X-linked mental retardation with or without seizures ARX-related	ARX	170302	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050709	early infantile epileptic encephalopathy Aliases: Early Infantile Epileptic Encephalopathy with Burst-Suppression	ARX IDH3A IDH3B IDH3G SCN8A STXBP1	170302 3419 3420 3421 6334 6812	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050453	lissencephaly	ARX CDK15 CDK5 CDK5R2 DAG1 DYNC1H1 NOS1 NOS2 NOS3 PAFAH1B1 POMGNT1 POMT1 POMT2 TUBA1A TUBA1B TUBA1C TUBA4A WDR75	1020 10376 10585 1605 170302 1778 29954 4842 4843 4846 5048 55624 65061 7277 7846 84128 84790 8941	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060806	syndromic X-linked intellectual disability Hedera type Aliases: MRXE MRXSH X-linked mental retardation with epilepsy mental retardation, X-linked, syndromic, Hedera type	ARX ATP6AP2	10159 170302	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060309	syndromic X-linked intellectual disability Aliases: syndromic X-linked mental retardation	ARX ATP6AP2 CASK DDX3X HUWE1 NKAP PHF2 PHF8 ZFX	10075 10159 1654 170302 23133 5253 7543 79576 8573	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080417	developmental and epileptic encephalopathy 38 Aliases: DEE38 early infantile epileptic encephalopathy 38	ARV1	850943	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:9455	lipid storage disease Aliases: Lipoid storage diseas inborn lipid storage disorder lipoidosis	ARV1 HNM1	850943 852803	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:574	peripheral nervous system disease	ARTN LTC4S TLR3	4056 7098 9048	Homo sapiens (human)	Alliance of Genome Resources

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