GlyCosmos Portal

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

Displaying entries **3701 - 3725** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲	Source
DOID:9869	hereditary fructose intolerance syndrome Aliases: Fructosaemia Fructose-1,6-bisphosphate aldolase B deficiency Fructosemia	ALDOB	229	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111681	glutamate-cysteine ligase deficiency Aliases: gamma-glutamylcysteine synthetase deficiency hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency	GCLC	2729	Homo sapiens (human)	Alliance of Genome Resources
DOID:1712	aortic valve stenosis Aliases: Aortic stenosis Rheumatic aortic stenosis rheumatic aortic valve stenosis	ADRB1 APOB BAMBI EGR1 ELN ENO3 LGALS3 MMP1 NFATC1 NPPC OGT SP7 TNF TNFRSF11B	121340 153 1958 2006 2027 25805 338 3958 4312 4772 4880 4982 7124 8473	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090111	PCWH syndrome Aliases: Neurologic Waardenburg-Shah syndrome PCWH Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Hirschsprung disease-Waardenburg syndrome	MPZ	4359	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070356	visual impairment and progressive phthisis bulbi	MARK2 MARK3	2011 4140	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070139	autosomal recessive cutis laxa type IC Aliases: ARCL1C autosomal recessive cutis laxa type 1C	LTBP4	8425	Homo sapiens (human)	Alliance of Genome Resources
DOID:2860	hemoglobinopathy Aliases: hemoglobinopathies	HBB	3043	Homo sapiens (human)	Alliance of Genome Resources
DOID:2580	rhizomelic chondrodysplasia punctata Aliases: Chondrodysplasia Punctata, Rhizomelic Form	AGPS	8540	Homo sapiens (human)	Alliance of Genome Resources
DOID:2957	pulmonary tuberculosis	ABCB1 ADA2 ADIPOQ AKT1 ALOX5 ATF3 C3 CCL1 CCL2 CCL5 CCR5 CD14 CD163 CD1D CD209 CD274 CD36 CD86 CLEC4M EGFR EREG GBE1 HAVCR2 HLA-DPB1 HLA-DQB1 HLA-DRB1 IL13 IL15 IL1RN IL4R IL6 IL6R ITIH4 JUN KIR3DS1 LTA MARCO MBL2 MIF NOD2 NOS2 PDCD1 PDCD1LG2 PLAUR SFTPA1 SLC11A1 TAP1 TLR1 TLR2 TLR4 TLR9 TNF TREM1	10332 1234 1956 2069 207 240 2632 29126 30835 3115 3119 3123 3557 3566 3569 3570 3596 3600 3700 3725 3813 4049 4153 4282 467 4843 5133 51816 5243 5329 54106 54210 6346 6347 6352 64127 653509 6556 6890 7096 7097 7099 7124 718 80380 84868 8685 912 929 9332 9370 942 948	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081153	common variable immunodeficiency 11	IL21	59067	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080677	otospondylomegaepiphyseal dysplasia, autosomal dominant	COL11A2	1302	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110815	hereditary spastic paraplegia 64 Aliases: SPG64 autosomal recessive spastic paraplegia 64 autosomal recessive spastic paraplegia type 64	ENTPD1	953	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111248	cerebrocostomandibular syndrome Aliases: CCM syndrome CCMS cerebro-costo-mandibular syndrome rib gap defects with micrognathia	SNRPB	6628	Homo sapiens (human)	Alliance of Genome Resources
DOID:5162	arteriolosclerosis	C3	718	Homo sapiens (human)	Alliance of Genome Resources
DOID:11212	hydrophthalmos	CYP1B1	1545	Homo sapiens (human)	Alliance of Genome Resources
DOID:6255	growth hormone secreting pituitary adenoma Aliases: Growth Hormone Producing adenoma of the Pituitary Somatotroph adenoma growth hormone secreting adenoma of pituitary	PTGS2	5743	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080233	autosomal dominant intellectual developmental disorder 50 Aliases: autosomal dominant intellectual developmental disorder-50 with behavioral abnormalities autosomal dominant mental retardation 50	NAA15	80155	Homo sapiens (human)	Alliance of Genome Resources
DOID:2747	glycogen storage disease Aliases: glycogenosis	GYG1 GYS2 PFKL PFKM PFKP PHKA1 PHKA2 PHKG2 PRKAG2 PYGL SLC2A2	2992 2998 51422 5211 5213 5214 5255 5256 5261 5836 6514	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112281	spondyloepiphyseal dysplasia Stanescu type Aliases: SED Stanescu type SEDSTN	COL2A1	1280	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110945	autosomal recessive osteopetrosis 6 Aliases: OPTB6 autosomal recessive osteopetrosis intermediate form	PLEKHM1	9842	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070157	hereditary sensory and autonomic neuropathy type 1C Aliases: HSAN1C hereditary sensory and autonomic neuropathy type IC	SPTLC2	9517	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111334	congenital leptin deficiency Aliases: LEPD leptin deficiency or dysfunction obesity due to congenital leptin deficiency	LEP	3952	Homo sapiens (human)	Alliance of Genome Resources
DOID:854	collagen disease Aliases: collagen disorder	COL4A1 COL4A3 COL4A4 COL4A5 COL4A6 DNM1 DNM2 TLR4 TLR5	1282 1285 1286 1287 1288 1759 1785 7099 7100	Homo sapiens (human)	Alliance of Genome Resources
DOID:431	myofascial pain syndrome	NGF NTRK1	4803 4914	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050851	glomerulosclerosis	ACE AGTR1 AGTR2 APOE COL3A1 HBEGF INF2 MMP1 MMP9 PLA2G7 PLEKHA7 PPARG SERPINE1 SHC1 SPP1	1281 144100 1636 1839 185 186 348 4312 4318 5054 5468 64423 6464 6696 7941	Homo sapiens (human)	Alliance of Genome Resources

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