GlyCosmos Portal

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

Displaying entries **11251 - 11275** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼	Source
DOID:848	arthritis Aliases: Inflammatory disorder of joint	B2M CD40 CNR2 FCGR3A GC HLA-DQA1 HLA-DQB1 IL23R PARP1 TLR4	1269 142 149233 2214 2638 3117 3119 567 7099 958	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081358	epidermolytic hyperkeratosis 1	KRT1	3848	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060563	Char syndrome	TFAP2B	7021	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080737	Ehlers-Danlos syndrome musculocontractural type 2	DSE	29940	Homo sapiens (human)	Alliance of Genome Resources
DOID:3443	mammary Paget's disease Aliases: Paget cell neoplasm Paget's disease Paget's disease of the breast mammary Paget disease	ERBB2	2064	Homo sapiens (human)	Alliance of Genome Resources
DOID:4644	epidermolysis bullosa simplex	CD151 DST KRT5 MMP9 PLEC	3852 4318 5339 667 977	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070130	autosomal dominant cutis laxa 1 Aliases: ADCL1	ELN	2006	Homo sapiens (human)	Alliance of Genome Resources
DOID:8997	polycythemia vera Aliases: Osler-Vaquez syndrome Polycythaemia rubra vera Proliferative polycythaemia chronic erythremia	CD36 ELANE EPOR HFE	1991 2057 3077 948	Homo sapiens (human)	Alliance of Genome Resources
DOID:1289	neurodegenerative disease Aliases: degenerative disease	ACO2 AIMP1 APLP2 BCL11A BCL11B CAT CLEC16A DEGS1 DEGS2 DVL1 DVL3 DYNC1H1 EPO FAT4 FIG4 FUS GC GGA2 GGA3 GRIA1 GRIA2 GRIA3 GRIA4 GRIK1 GRIK2 GRIK3 GRIN1 HNRNPA1 HNRNPA1L2 HNRNPA2B1 HNRNPA3 HPDL HTT KIF5B LATS1 LATS2 LRRK2 MAPT MARK2 MARK3 MARS2 MEGF10 MEGF11 MTMR10 MTMR11 NFKB1 NFKB2 NPLOC4 NRDC NUP50 PACSIN2 PEAR1 PLA2G6 PNPLA6 PNPLA7 PON1 PON2 PON3 PRKAG2 PRKAG3 PSMA3 PSMA5 PSMB1 PSMC4 PSMD2 PTCH1 PTCH2 RASA1 RHOA RHOB RHOC SARM1 SCNN1A SCNN1B SCNN1D SCNN1G SDHA SLC17A6 SLC17A8 SLC1A1 SLC1A2 SLC1A3 SLC1A4 SLC1A5 SLC1A6 SLC1A7 STK4 TARDBP TBP TPI1 TRAK1 TRAK2 TRPC4 TRPC5 TSPAN3 TSPAN7 UBQLN1 UBQLN2 UBQLN4 UBR1 UFD1 VAPA VAPB VCP YAP1 YBX2	10099 10413 10762 10903 10908 11252 120892 123099 144983 1778 1855 1857 197131 2011 2056 220988 22906 23062 23098 23163 23274 23435 246213 2521 2638 26524 2890 2891 2892 2893 2897 2898 2899 2902 29978 29979 3064 3178 3181 334 375033 375775 3799 387 388 389 4137 4140 4790 4791 4898 50 51087 51422 53335 53632 5444 5445 5446 54893 55666 5684 5686 5689 56893 5704 5708 57084 5727 5921 6337 6338 6339 6340 6389 64919 6505 6506 6507 6509 6510 6511 6512 66008 6789 6908 7102 7167 7223 7224 7353 7415 79633 8398 84465 84466 847 84842 8560 8643 9113 9217 9218 9255 92935 9896	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110779	hereditary spastic paraplegia 28 Aliases: SPG28 autosomal recessive spastic paraplegia 28 autosomal recessive spastic paraplegia type 28	DDHD1 SEC23IP	11196 80821	Homo sapiens (human)	Alliance of Genome Resources
DOID:9281	phenylketonuria Aliases: Folling's disease PKU maternal phenylketonuria phenylalaninemia	CAT DUOX1 DUOX2 G6PD HNF1A NEFH	2539 4744 50506 53905 6927 847	Homo sapiens (human)	Alliance of Genome Resources
DOID:2055	post-traumatic stress disorder Aliases: PTSD traumatic neurosis	ADCYAP1R1 BAX BDNF CASP9 GRIN2A HSPA5 IL2 MDM2 NR3C1 NTRK2 OPRM1 PDIA3 WFS1	117 2903 2908 2923 3309 3558 4193 4915 4988 581 627 7466 842	Homo sapiens (human)	Alliance of Genome Resources
DOID:2320	obstructive lung disease Aliases: respiratory airway obstruction	A2M MMP1	2 4312	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112001	immunodeficiency 50 Aliases: CID due to Moesin deficiency IMD50 MSN-related combined immunodeficiency X-linked Moesin-associated immunodeficiency combined immunodeficiency due to Moesin deficiency immunodeficiency 50 X linked recessive	MSN	4478	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050963	spinocerebellar ataxia type 13	KCNC3	3748	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060161	Kennedy's disease Aliases: Kennedy disease SBMA Spinobulbar Muscular Atrophy X-Linked Bulbo-Spinal Atrophy X-linked Spinal and Bulbar Muscular Atrophy spinal bulbar muscular atrophy	AR GDNF	2668 367	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050157	cryptogenic organizing pneumonia Aliases: BOOP Cryptogenic organising pneumonitis Cryptogenic organizing pneumonitis bronchiolitis obliterans organising pneumonia bronchiolitis obliterans organizing pneumonia cryptogenic organising pneumonia idiopathic bronchiolitis obliterans with organising pneumonia idiopathic bronchiolitis obliterans with organizing pneumonia	TNFRSF1A TNFRSF1B	7132 7133	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070442	paroxysmal nonkinesigenic dyskinesia 3 Aliases: generalized epilepsy and paroxysmal dyskinesia	KCNMA1 KCNU1	157855 3778	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060746	basal laminar drusen Aliases: cuticular drusen drusen of bruch membrane early adult-onset grouped drusen	CFH	3075	Homo sapiens (human)	Alliance of Genome Resources
DOID:446	primary hyperaldosteronism Aliases: Cushing syndrome Cushing's syndrome hyperaldosteronism	CACNA1H CLCN2 CYBB CYP11B1 CYP11B2 DRD2 KCNJ5 NR3C1 REN SERPINA1	1181 1536 1584 1585 1813 2908 3762 5265 5972 8912	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070150	hereditary sensory and autonomic neuropathy type 2B Aliases: HSAN2B hereditary sensory and autonomic neuropathy type IIB	RETREG1	54463	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050569	Seckel syndrome Aliases: Harper's syndrome Virchow-Seckel dwarfism bird-headed dwarfism microcephalic primordial dwarfism	ATR ATRIP CDK5RAP2	545 55755 84126	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060798	hypomyelinating leukodystrophy 6 Aliases: H-ABC HABC HLD6 hypomyelinating leukodystrophy with atrophy of the basal ganglia and cerebellum hypomyelination with atrophy of basal ganglia and cerebellum	TUBB4A	10382	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080286	spinocerebellar ataxia 44	GRM1	2911	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080244	Galloway-Mowat syndrome 2	LAGE3	8270	Homo sapiens (human)	Alliance of Genome Resources

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