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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 **8301 - 8325** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼	Source
DOID:8553	pyoderma gangrenosum	MMP2 MMP9	4313 4318	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111134	focal segmental glomerulosclerosis 9 Aliases: FSGS9	CRB2	286204	Homo sapiens (human)	Alliance of Genome Resources
DOID:3310	atopic dermatitis Aliases: Atopic neurodermatitis Besnier's prurigo allergic dermatitis atopic eczema	ADAM17 APOE BDNF C3 CCL28 CCR2 CCR3 CCR5 CD40 CDSN CLDN1 CMA1 CTLA4 CTSE CX3CL1 DOCK8 F2 FCGR2A HAVCR1 IFNG IL13 IL13RA1 IL13RA2 IL17A IL21R IL25 IL2 IL4 IL4R IL5 MBL2 NGF NGFR NTRK1 RELB SELP SHOC2 TGFB1 TLR2 TLR4 TNF TNFAIP6 TRAF3IP2 TSLP WASL	1041 10758 1215 1232 1234 1493 1510 2147 2212 26762 3458 348 3558 3565 3566 3567 3596 3597 3598 3605 4153 4803 4804 4914 50615 56477 5971 627 6376 6403 64806 6868 7040 7097 7099 7124 7130 718 729230 8036 81704 85480 8976 9076 958	Homo sapiens (human)	Alliance of Genome Resources
DOID:6196	reactive arthritis Aliases: Fiessinger Leroy Reiter syndrome Post-bacterial arthropathy Reiter disease Reiter's disease postdysenteric arthropathy	CYP1A1 HLA-B SOD2 TAP1	1543 3106 6648 6890	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110977	brachydactyly type A1C Aliases: BDA1C	GDF5	8200	Homo sapiens (human)	Alliance of Genome Resources
DOID:445	Bartter disease Aliases: Aldosteronism with hyperplasia of the adrenal cortex Bartter's syndrome	CLCNKB SLC12A1	1188 6557	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111234	congenital muscular dystrophy-dystroglycanopathy A7 Aliases: MDDGA7 Walker-Warburg syndrome or muscle-eye-brain disease ISPD-related congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A7	CRPPA	729920	Homo sapiens (human)	Alliance of Genome Resources
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	PTH1R	5745	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050547	familial medullary thyroid carcinoma Aliases: THYROID CARCINOMA, FAMILIAL MEDULLARY	PRLR RET	5618 5979	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111438	optic atrophy 5 Aliases: OPA5	DNM1L	10059	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090060	Wolcott-Rallison syndrome	EIF2AK3	9451	Homo sapiens (human)	Alliance of Genome Resources
DOID:13271	cutaneous porphyria Aliases: Erythropoietic porphyria	UROS	7390	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081397	Vissers-Bodmer syndrome	CNOT1	23019	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111641	autosomal recessive nonsyndromic deafness 94 Aliases: DFNB94 autosomal recessive deafness 94	NARS2	79731	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110928	nemaline myopathy 2 Aliases: NEM2 congenital myopathy 2 nemaline myopathy 2, autosomal recessive	NEB	4703	Homo sapiens (human)	Alliance of Genome Resources
DOID:13810	familial hypercholesterolemia Aliases: Fredrickson type IIa hyperlipoproteinemia Fredrickson type IIa lipidaemia familial hyperbetalipoproteinaemia familial hypercholesteremia hyperbetalipoproteinemia type II hyperlipidemia	ADRB2 APOA1 APOB APOE EPHX2 GHR GK LDLR MMP9 PCSK9 PON2 RBP4 SERPINE1	154 2053 255738 2690 2710 335 338 348 3949 4318 5054 5445 5950	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060891	Parkinson's disease 19A Aliases: juvenile onset Parkinson disease 19A juvenile onset Parkinson's disease 19A	GAK	2580	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050854	Muckle-Wells syndrome Aliases: MWS neutrophilic urticaria	IL1RN	3557	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110433	dilated cardiomyopathy 1E Aliases: CDCD2 CMD1E dilated cardiomyopathy with conduction defect 2 dilated cardiomyopathy with conduction disorder and arrhythmia	SCN5A	6331	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070400	hypomyelinating leukodystrophy 19 Aliases: HLD19	TMEM63A	9725	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111265	Boucher-Neuhauser syndrome Aliases: ataxia-hypogonadism-choroidal dystrophy syndrome	PNPLA6	10908	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110863	congenital stationary night blindness autosomal dominant 2 Aliases: CSNBAD2 Rambusch type congenital stationary night blindness	PDE6B	5158	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110865	congenital stationary night blindness 1B Aliases: CSNB1B autosomal recessive complete congenital stationary night blindness congenital stationary night blindness 1B autosomal recessive	GRM6	2916	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110764	hereditary spastic paraplegia 11 Aliases: HSP-TCC Nakamura-Osame syndrome SPG11 autosomal recessive spastic paraplegia 11 autosomal recessive spastic paraplegia complicated with thin corpus callosum autosomal recessive spastic paraplegia type 11 autosomal recessive spastic paraplegia with mental impairment and thin corpus callosum spastic paraplegia-intellectual disability-thin corpus callosum syndrome	SPG11	80208	Homo sapiens (human)	Alliance of Genome Resources
DOID:1441	autosomal dominant cerebellar ataxia Aliases: spinocerebellar ataxia	ATXN1 ATXN1L ATXN2 ATXN2L ITPR1 ITPR2 ITPR3 NPTX1 SAMD9L	11273 219285 342371 3708 3709 3710 4884 6310 6311	Homo sapiens (human)	Alliance of Genome Resources

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