GlyCosmos Portal

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

Displaying entries **6676 - 6700** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲	Source
DOID:0110327	hypertrophic cardiomyopathy 26 Aliases: CMH26 cardiomyopathy familial hypertrophic 26	FLNC	2318	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050997	cerebellar ataxia, mental retardation and dysequlibrium syndrome Aliases: CAMRQ Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 1 (CAMRQ1) Uner Tan syndrome VLDLR Cerebellar Hypoplasia	TUBB1 TUBB2A TUBB2B TUBB3 TUBB4A TUBB4B TUBB6 TUBB	10381 10382 10383 203068 347733 7280 81027 84617	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080632	Fazio-Londe disease Aliases: riboflavin transporter deficiency neuronopathy	SLC52A3	113278	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050817	Stargardt disease Aliases: STARGARDT DISEASE 1	ABCA4 ELOVL4	24 6785	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:0070389	developmental and epileptic encephalopathy 103 Aliases: DEE103 early infantile epileptic encephalopathy 103	KCNC2	3747	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080239	autosomal recessive intellectual developmental disorder 61 Aliases: Alwadei syndrome autosomal recessive intellectual developmental disorder-61 autosomal recessive mental retardation 61	RUSC2	9853	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090083	hypogonadotropic hypogonadism 2 with or without anosmia	FGFR1	2260	Homo sapiens (human)	Alliance of Genome Resources
DOID:11984	hypertrophic cardiomyopathy Aliases: hypertrophic obstructive cardiomyopathy	ACE2 ACE ACTB ADGRL4 ADM AGT AHR CACNB2 CD36 CMA1 CS CTSL CYP1A1 CYP1B1 CYP2E1 DNMT1 DSP EDN1 EPHX2 FHL1 HRAS HTR2B ICAM1 IGF1R KRAS LAMP2 MAP3K7 MMP1 MMP2 MMP9 MYBPC3 MYH7 NPPA NPPB NRAS ORAI1 ORAI3 PKD1 PTPN11 SDHD SLC25A6 STIM1 STIM2 TNNI3 VCL XIRP1	1215 133 1431 1514 1543 1545 1571 1636 165904 1786 183 1832 1906 196 2053 2273 293 3265 3357 3383 3480 3845 3920 4312 4313 4318 4607 4625 4878 4879 4893 5310 57620 5781 59272 60 6392 64123 6786 6885 7137 7414 783 84876 93129 948	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110019	age related macular degeneration 7 Aliases: ARMD7	C3 CFB	629 718	Homo sapiens (human)	Alliance of Genome Resources
DOID:150	disease of mental health	CIC GNPAT SNRNP70 STX1A	23152 6625 6804 8443	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:10316	pneumoconiosis	CAT HLA-DQB1	3119 847	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111849	osteogenesis imperfecta type 20 Aliases: OI20 osteogenesis imperfecta type XX	MESD	23184	Homo sapiens (human)	Alliance of Genome Resources
DOID:9667	placental abruption Aliases: abruptio placenta abruptio placentae	PROC	5624	Homo sapiens (human)	Alliance of Genome Resources
DOID:627	severe combined immunodeficiency Aliases: SCID combined T and B cell inborn immunodeficiency	CD3D DCLRE1C IL2 IL2RG IL7R JAK3 PRKDC PTPRC RFX5 TAPBP ZAP70	3558 3561 3575 3718 5591 5788 5993 64421 6892 7535 915	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110552	autosomal dominant nonsyndromic deafness 22 Aliases: DFNA22 autosomal dominant deafness 22	MYO6	4646	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:0111108	maturity-onset diabetes of the young type 10 Aliases: MODY10	INS	3630	Homo sapiens (human)	Alliance of Genome Resources
DOID:693	dental enamel hypoplasia Aliases: enamel hypoplasia	CFTR	1080	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080754	X-linked keratosis follicularis spinulosa decalvans	MBTPS2	51360	Homo sapiens (human)	Alliance of Genome Resources
DOID:8536	herpes zoster Aliases: Shingles herpes zona	F2 IL10 IL2 IL4 TNF	2147 3558 3565 3586 7124	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080545	hyper IgE syndrome Aliases: hyper immunoglobulin E syndrome	IL6R	3570	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080066	autosomal recessive spinocerebellar ataxia 20 Aliases: SCAR20	SNX13	23161	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070243	primary coenzyme Q10 deficiency 6 Aliases: COQ10D6 coenzyme Q10 deficiency, primary, 6 familial steroid-resistant nephrotic syndrome with sensorineural deafness	COQ6	51004	Homo sapiens (human)	Alliance of Genome Resources

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