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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 **8026 - 8050** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼	Source
DOID:0070529	Sifrim-Hitz-Weiss syndrome Aliases: CHD4 Neurodevelopmental Disorder CHD4-related neurodevelopmental disorder CHD4-related neurodevelopmental syndrome SIFRIM-HITZ-WEISS MULTIPLE CONGENITAL ANOMALIES-MENTAL RETARDATION SYNDROME SIHIWES	CHD4	1108	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050812	spondyloepimetaphyseal dysplasia, Pakistani type Aliases: spondyloepimetaphyseal dysplasia Pakistani type	PAPSS2	9060	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0040091	autoimmune pancreatitis	HLA-DQB1	3119	Homo sapiens (human)	Alliance of Genome Resources
DOID:303	substance-related disorder	CDH13 FASLG GSK3B HTR2C KCNMA1 KCNU1 PTEN SLC18A2	1012 157855 2932 3358 356 3778 5728 6571	Homo sapiens (human)	Alliance of Genome Resources
DOID:5410	pulmonary neuroendocrine tumor	RNASET2	8635	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070474	childhood-onset neurodegeneration with brain atrophy Aliases: CONDBA childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder	UBTF	7343	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110639	congenital muscular dystrophy due to integrin alpha-7 deficiency Aliases: congenital muscular dystrophy with ITGA7 deficiency congenital muscular dystrophy with integrin alpha-7 deficiency congenital myopathy due to integrin alpha-7 deficiency	ITGA7	3679	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080505	Cornelia de Lange syndrome 1	NIPBL	25836	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081419	childhood-onset dystonia with optic atrophy and basal ganglia abnormalities Aliases: DYSTONIA 29, CHILDHOOD-ONSET DYTOABG MECR-related neurologic disorder MEPAN syndrome Mitochondrial Enoyl CoA Reductase Protein-Associated Neurodegeneration	MECR	51102	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080448	developmental and epileptic encephalopathy 48 Aliases: DEE48 early infantile epileptic encephalopathy 48	AP3B2	8120	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050958	spinocerebellar ataxia type 7	ATXN7 ATXN7L1	222255 6314	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050445	X-linked dominant hypophosphatemic rickets Aliases: Hypophosphatemia, Vitamin D-Resistant Rickets Vitamin D-Resistant Rickets, X-Linked X-linked hypophosphatemia hypophosphatemic rickets X-linked dominant	FAM20C PHEX	5251 56975	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:3328	temporal lobe epilepsy Aliases: epilepsy, temporal lobe	ABCB1 ACTB ADD1 AGT AK2 AQP4 AVP AZGP1 CACNA1A CDC42 CRHBP CXCR4 CYFIP1 DBN1 DTNBP1 FOS FOXO3 GDNF GLUD1 GLUD2 GLUL GRIK5 GRIN2B GRM1 HCN1 HDAC2 KCNA1 KCNN4 MAP2 MAPT MBP MMP9 MTOR NOS1 NPY1R NPY2R NTRK2 PGF PRICKLE1 PTPRZ1 RASGRF1 RELN RGMA SHH SLC32A1 SLC6A1 VDAC2	118 1393 140679 144165 1627 183 204 2309 23191 2353 2475 2668 2746 2747 2752 2901 2904 2911 3066 348980 361 3736 3783 4133 4137 4155 4318 4842 4886 4887 4915 5228 5243 551 563 5649 56963 5803 5923 60 6469 6529 7417 773 7852 84062 998	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090081	hypogonadotropic hypogonadism 22 with or without anosmia	FEZF1	389549	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060602	alpha-methylacyl-CoA racemase deficiency Aliases: AMACR deficiency	AMACR	23600	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111784	otopalatodigital syndrome type 2 Aliases: Andre syndrome OPD II syndrome OPD syndrome 2 OPD2 faciopalatoosseous syndrome oto-palato-digital syndrome type 2 otopalatodigital syndrome type II	FLNA	2316	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070066	autosomal dominant intellectual developmental disorder 36 Aliases: MRD36 autosomal dominant mental retardation 36 autosomal dominant non-syndromic intellectual disability 36	PPP2R1A	5518	Homo sapiens (human)	Alliance of Genome Resources
DOID:988	mitral valve prolapse Aliases: Barlow's syndrome floppy mitral valve	ACE AGT DCHS1 DES DZIP1 FBN1 FLNA HLA-B PLAU TSHR	1636 1674 183 2200 22873 2316 3106 5328 7253 8642	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111673	Saul-Wilson syndrome Aliases: SWILS microcephalic osteodysplastic dysplasia, Saul-Wilson type	COG4	25839	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112245	focal segmental glomerulosclerosis 3 Aliases: FSGS3	CD2AP	23607	Homo sapiens (human)	Alliance of Genome Resources
DOID:13564	aspergillosis Aliases: Infection due to Aspergillus	AGER CD209 CLEC1A CLEC7A IL15 TLR1 TLR6	10333 177 30835 3600 51267 64581 7096	Homo sapiens (human)	Alliance of Genome Resources
DOID:12510	retinal ischemia	HIF1A MMP9 PTGER4 THY1 VEGFA	3091 4318 5734 7070 7422	Homo sapiens (human)	Alliance of Genome Resources
DOID:1591	renovascular hypertension	ACE ADM ADRB1 AGTR1 AGTR2 AVPR1A CAMK2D CMA1 CXCR3 DYRK1A EIF4G2 FN1 G6PD HAVCR1 LAMA2 LCN2 MPO NOS1 PDGFA PRL PTGER3 PTGS1 RELA REN SLC9A1 SLC9A3 SPP1	1215 133 153 1636 185 1859 186 1982 2335 2539 26762 2833 3908 3934 4353 4842 5154 552 5617 5733 5742 5970 5972 6548 6550 6696 817	Homo sapiens (human)	Alliance of Genome Resources
DOID:2377	multiple sclerosis Aliases: Generalized multiple sclerosis insular sclerosis	A2M ACAN ACHE ADIPOQ AGER AGT APOA1 APOC2 B4GALT5 B4GALT6 BDNF CACNA1B CCL1 CCL2 CCL5 CCL7 CCR3 CCR5 CD24 CD28 CD40 CD46 CD86 CIITA CLEC16A COL1A1 CTLA4 CTSB EDN1 FAS FASLG FCGR2A FCGR3A GABRA3 GC GLI1 GRM8 GRN H6PD HDAC1 HLA-DPB1 HLA-DQA1 HLA-DQB1 HLA-DRA HLA-DRB1 HLA-DRB3 HSP90AB1 HSPA8 IFNB1 IFNG IGF2 IL13 IL17A IL21R IL23R IL2RA IL4 IL4R IL6 IRF5 JAG1 KIF1B LRCH1 MAG MBP MMP12 MMP9 MOG MPHOSPH9 NECTIN2 NEFH NEFL NGFR NOTCH4 PDCD1 PHACTR2 PLA2G7 PRF1 PTPRC RGMA RHOA SHH SLC11A1 SPP1 TLR4 TNF TNFRSF1A	100133941 10198 1232 1234 1277 149233 1493 1508 176 177 182 183 1906 2 2212 2214 23095 23143 23274 2556 2638 2735 2896 2918 3065 3115 3117 3119 3122 3123 3125 3312 3326 335 344 3456 3458 3481 355 3559 356 3565 3566 3569 3596 3605 3663 387 4099 4155 4179 4261 43 4318 4321 4340 4744 4747 4804 4855 50615 5133 5551 56963 5788 5819 627 6346 6347 6352 6354 6469 6556 6696 7099 7124 7132 774 7941 9331 9334 9370 940 942 9563 958 9749	Homo sapiens (human)	Alliance of Genome Resources

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