GlyCosmos Portal

Source	Last Updated
Alliance of Genome Resources	October 9, 2024
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **8626 - 8650** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼	Source
DOID:0110032	autosomal dominant Alport syndrome	COL4A3 MYH9	1285 4627	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110272	cataract 40 Aliases: CTRCT40 cataract 40 X-linked cataract 40 with or without microcornea	NHS	4810	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060475	myoclonic-atonic epilepsy Aliases: EEOC childhood onset epileptic encephalopathy	CHD2 FMR1 ROBO1 ROBO2 ROBO3 SLC25A10 SLC6A1 VARS1	1106 1468 2332 6091 6092 64221 6529 7407	Homo sapiens (human)	Alliance of Genome Resources
DOID:14069	cerebral malaria Aliases: Malarial encephalitis	ACE2 NRG1	3084 59272	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050637	Finnish type amyloidosis Aliases: AGel amyloidosis AMYLOIDOSIS, MERETOJA TYPE Lattice corneal dystrophy type II gelsolin amyloidosis	GSN	2934	Homo sapiens (human)	Alliance of Genome Resources
DOID:9428	intracranial hypertension Aliases: Raised intracranial pressure	AQP1 HTR5A KCNS1	3361 358 3787	Homo sapiens (human)	Alliance of Genome Resources
DOID:12387	nephrogenic diabetes insipidus	AQP2 AQP3 AVPR2 CLCNKB GRN RNF40 SIRT1 SLC4A4 STIM1	1188 23411 2896 359 360 554 6786 8671 9810	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060583	Noonan syndrome 5 Aliases: NS5	RAF1	5894	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060895	Parkinson's disease 4 Aliases: autosomal dominant Lewy body Parkinson disease 4 autosomal dominant Parkinson disease 4 autosomal dominant Parkinson's disease 4	SNCA	6622	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111332	Pitt-Hopkins-like syndrome 2 Aliases: PTHSL2	NRXN1	9378	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110243	cataract 46 juvenile-onset Aliases: CTRCT46 juvenilae cataract Hutterite type	LEMD2 LEMD3	221496 23592	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111866	trichothiodystrophy Aliases: TTD	AARS1 MARS1	16 4141	Homo sapiens (human)	Alliance of Genome Resources
DOID:14784	olivopontocerebellar atrophy Aliases: Dejerine-Thomas syndrome Thomas' syndrome WADIA-SWAMI SYNDROME	APTX	54840	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090100	ocular albinism with sensorineural deafness Aliases: WS2-OA autosomal recessive Waardenburg syndrome type 2 with ocular albinism digenic Waardenburg syndrome/albinism digenic Waardenburg syndrome/ocular albinism	MITF	4286	Homo sapiens (human)	Alliance of Genome Resources
DOID:3343	glycoproteinosis Aliases: Mucolipidosis type I sialidosis	GNPTAB GNPTG MCOLN1 MCOLN3 NEU1	4758 55283 57192 79158 84572	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 Glyco-Disease Genes Database Glyco-Disease Genes Database Alliance of Genome Resources
DOID:9261	nasopharynx carcinoma Aliases: Nasopharyngeal carcinoma malignant Nasopharyngeal tumor malignant neoplasm of nasopharynx nasopharynx cancer	ARID1A ATM ATR BRCA1 CALR CD163 CHRNA5 CLPTM1L CR2 CSF1R CXCR4 CYP2E1 DDR2 EFNB2 ERBB3 EZH2 FGFR4 FLT1 FOSL2 FUBP1 GPX1 GRIN2A KDM3A KDR KMT2C MAP2K4 MAPK14 MST1R MUC5B PPIA RAC1 SNRPD1 SNRPE SPEN SRC STAT3 TERT TET2 TNFAIP3 TP53 VEGFA XRCC1	1138 1380 1432 1436 1571 1948 2065 2146 2264 23013 2321 2355 2876 2903 3791 4486 472 4921 545 5478 54790 55818 58508 5879 6416 6632 6635 6714 672 6774 7015 7128 7157 727897 7422 7515 7852 81037 811 8289 8880 9332	Homo sapiens (human)	Alliance of Genome Resources
DOID:11077	brucellosis Aliases: Maltese fever undulant fever	CD163 IFNG	3458 9332	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111926	spermatogenic failure 39 Aliases: SPGF39	DNAH17	8632	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070058	Helsmoortel-Van Der Aa Syndrome Aliases: HVDAS MRD28 autosomal dominant mental retardation 28	ADNP	23394	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110665	congenital myasthenic syndrome 3B Aliases: CMS3B congenital myasthenic syndrome 3B, fast-channel	CHRND	1144	Homo sapiens (human)	Alliance of Genome Resources
DOID:6088	acute stress disorder Aliases: traumatic stress disorder	ACHE	43	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111675	neurooculocardiogenitourinary syndrome Aliases: NOCGUS	WDR37	22884	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080420	developmental and epileptic encephalopathy 62 Aliases: DEE62 early infantile epileptic encephalopathy 62	SCN3A	6328	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112332	pontocerebellar hypoplasia type 13 Aliases: PCH13	VPS51	738	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110660	congenital myasthenic syndrome 12 Aliases: CMS12 congenital myasthenia 12 with tubular aggregates	GFPT1	2673	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources

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