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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 **15026 - 15050** of **15957** in total

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Disease ID	Disease Name	Gene Symbol ▼	Gene ID	Organism	Source
DOID:0060227	Adams-Oliver syndrome Aliases: Adams Oliver syndrome	ARHGAP31 DLL4 DOCK6 EOGT NOTCH1 RBPJ	285203 3516 4851 54567 57514 57572	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080311	X-linked mental retardation with cerebellar hypoplasia and distinctive facial appearance	ARHGAP26 OPHN1	23092 4983	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081082	acute myelomonocytic leukemia	ARHGAP26 CBFB FLT3 GMPS	23092 2322 865 8833	Homo sapiens (human)	Alliance of Genome Resources
DOID:9408	acute myocardial infarction	ARHGAP17 BAX C3 CACNG4 CASP7 DSC2 FOS GP6 GPX3 GSK3B IFNG IL10 IL17A IL1RL1 IL4 IL6 ITGAM NDUFB5 PLCG1 PTEN RHOA SDHB SERPING1 TNF ZEB1	1824 2353 27092 2878 2932 3458 3565 3569 3586 3605 3684 387 4711 51206 5335 55114 5728 581 6390 6935 710 7124 718 840 9173	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112258	N-acetylglutamate synthase deficiency Aliases: N-acetyl glutamate synthetase deficiency N-acetylglutamate synthetase deficiency NAG synthetase deficiency NAGS deficiency hyperammonemia due to N-acetylglutamate synthase deficiency	ARG2	853374	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:9252	amino acid metabolic disorder Aliases: inborn errors of amino acid metabolism	ARG2 EHD3	851606 853374	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0050454	periventricular nodular heterotopia Aliases: periventricular heterotopia	ARFGEF2 FLNA MAP1B NEDD4L	10564 2316 23327 4131	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050856	oppositional defiant disorder	AR	367	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080776	partial androgen insensitivity syndrome Aliases: Reifenstein syndrome	AR	367	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:4674	androgen insensitivity syndrome Aliases: Androgen resistance syndrome Androgen-Insensitivity Syndrome Feminisation - testicular Goldberg - Maxwell syndrome Goldberg-Maxwell syndrome testicular Feminization syndrome testicular feminization	AR FKBP4 KAT7	11143 2288 367	Homo sapiens (human)	Alliance of Genome Resources
DOID:12995	conduct disorder	AR DRD4 HTR1B	1815 3351 367	Homo sapiens (human)	Alliance of Genome Resources
DOID:10892	hypospadias Aliases: familial hypospadias	AR CYP1A1 FGF10 FGF8 FGFR2 FOS GLI3 HOXD13 HSD3B2 MAMLD1 SRD5A2	10046 1543 2253 2255 2263 2353 2737 3239 3284 367 6716	Homo sapiens (human)	Alliance of Genome Resources
DOID:127	leiomyoma Aliases: leiomyomatous neoplasm leiomyomatous tumor	AR BAX COMT EZH2 FASLG FGF7 FZD2 IGFBP6 KAT6B LNPEP MKI67 MMP2 MYC NOS3 PARP1 PCNA PDGFA PDGFB PGR PTEN PTGER3 PTK2 SFRP1 TGFBR1 TSC2 WNT5B WNT7A XRCC1	1312 142 2146 2252 23522 2535 3489 356 367 4012 4288 4313 4609 4846 5111 5154 5155 5241 5728 5733 5747 581 6422 7046 7249 7476 7515 81029	Homo sapiens (human)	Alliance of Genome Resources
DOID:289	endometriosis	AR BAX CCL11 CCL2 CCL5 CD36 CSF1 CTNNB1 CYP19A1 CYP1A1 DNMT1 EGR1 ESR1 EZH2 FGFR2 GC HDAC2 HDAC3 HLA-DRB1 IFNG IL10 KDR KRAS MDK MMP2 MMP9 PGR PLK1 PTGES PTGS2 PTK2 RUNX1 SELL SERPINF1 TNF TNFRSF1B VAV1 VEGFA	1435 1499 1543 1588 1786 1958 2099 2146 2263 2638 3066 3123 3458 3586 367 3791 3845 4192 4313 4318 5176 5241 5347 5743 5747 581 6347 6352 6356 6402 7124 7133 7409 7422 861 8841 948 9536	Homo sapiens (human)	Alliance of Genome Resources
DOID:11132	prostatic hypertrophy	AR BAD CASP6 CFTR CLU ESR1 FADD FGF7 FGF8 IGF1R IL13 IL3 IL5 KDR MYC NME2 PDGFB PDGFD PTGS2 RELA SRD5A1	1080 1191 2099 2252 2253 3480 3562 3567 3596 367 3791 4609 4831 5155 572 5743 5970 6715 80310 839 8772	Homo sapiens (human)	Alliance of Genome Resources
DOID:12377	spinal muscular atrophy	AR ATP7A ATP7B DPP6 HEXB KIF5B VAPB	1804 3074 367 3799 538 540 9217	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111707	Bothnian type palmoplantar keratoderma Aliases: PPKB diffuse palmoplantar keratoderma, Bothnian type	AQP5	362	Homo sapiens (human)	Alliance of Genome Resources
DOID:3275	thymoma	AQP4	361	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080122	Alpers-Huttenlocher syndrome Aliases: Alper's syndrome Alpers disease Alpers progressive infantile poliodystrophy Alpers syndrome Alpers' disease or gray-matter degeneration Diffuse Cerebral Sclerosis of Schilder mitochondrial DNA depletion syndrome 4a progressive sclerosing poliodystrophy	AQP4	361	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080743	transverse myelitis	AQP4 IL6	3569 361	Homo sapiens (human)	Alliance of Genome Resources
DOID:9849	Meniere's disease Aliases: Meniere disease Mnire's vertigo Otogenic vertigo	AQP4 HLA-B HLA-DRB1 HSPA1A	3106 3123 3303 361	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080315	megalencephalic leukoencephalopathy with subcortical cysts Aliases: megalencephalic leukodystrophy megalencephaly-cystic leukodystorphy syndrome vacuolating megalencephalic leukoencephalopathy with subcortical cysts	AQP4 GPRC5B HEPACAM	220296 361 51704	Homo sapiens (human)	Alliance of Genome Resources
DOID:8869	neuromyelitis optica Aliases: Devic's disease Devic's syndrome	AQP4 CD59 HLA-DQB1 HLA-DRB1 IL21 IL6 MMP9 NEFH NEFL	3119 3123 3569 361 4318 4744 4747 59067 966	Homo sapiens (human)	Alliance of Genome Resources
DOID:1210	optic neuritis	AQP4 CAT CCR5 HLA-DQB1 HLA-DRB1 MOG NEFH SOD2	1234 3119 3123 361 4340 4744 6648 847	Homo sapiens (human)	Alliance of Genome Resources

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