GlyCosmos Portal

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

Displaying entries **1076 - 1100** of **15957** in total

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Disease ID	Disease Name	Gene Symbol ▲	Gene ID	Organism	Source
DOID:0080202	adenoid cystic carcinoma	ATR KDM6A KMT2C NTRK3 SLC3A2 SLC7A5 TP53 XRN2	22803 4916 545 58508 6520 7157 7403 8140	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070007	Seckel syndrome 1 Aliases: SCKL1 microcephalic primordial dwarfism I	ATR	545	Homo sapiens (human)	Alliance of Genome Resources
DOID:1799	islet cell tumor Aliases: Islet cell neoplasm endocrine pancreas cancer islet cell tumour malignant pancreatic Endocrine tumor malignant pancreatic Endocrine tumour malignant tumor of endocrine pancreas malignant tumour of endocrine pancreas pancreatic Endocrine neoplasm	ATRX DAXX PCSK1	1616 5122 546	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080982	X-linked mental retardation-hypotonic facies syndrome-1	ATRX	546	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112125	alpha-thalassemia myelodysplasia syndrome Aliases: ATMDS acquired HbH disease acquired hemoglobin H disease alpha-thalassemia-myelodysplastic syndrome	ATRX	546	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110030	alpha thalassemia-X-linked intellectual disability syndrome Aliases: ATR, nondeletion type ATR-X syndrome alpha-thalassemia/mental retardation syndrome nondeletion type	ATRX	546	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
DOID:0050954	spinocerebellar ataxia type 1	ATXN1	6310	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050955	spinocerebellar ataxia type 2	ATXN2 ATXN2L	11273 6311	Homo sapiens (human)	Alliance of Genome Resources
DOID:1440	Machado-Joseph disease Aliases: Azorean disease MJD SCA3 spinocerebellar ataxia 3 spinocerebellar ataxia type 3	ATXN3 GFPT1 GFPT2 SLC18A2	2673 4287 6571 9945	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:1319	brain cancer Aliases: BT - Brain tumour adult brain tumor adult malignant brain neoplasm brain neoplasm brain neoplasm, adult malignant brain tumour malignant primary brain neoplasm malignant primary brain tumor malignant tumor of Brain malignant tumor of adult brain neoplasm of brain primary brain neoplasm primary brain tumor primary malignant neoplasm of brain tumor of the Brain	AURKB HES1 L3MBTL1 L3MBTL4 LLGL1 LLGL2 MYC NOTCH1 NOTCH2 NOTCH3 NUMBL TERT VPS26A	26013 3280 3993 3996 4609 4851 4853 4854 7015 91133 9212 9253 9559	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070056	autosomal dominant intellectual developmental disorder 26 Aliases: MRD26 autosomal dominant mental retardation 26 autosomal dominant non-syndromic intellectual disability 26	AUTS2	26053	Homo sapiens (human)	Alliance of Genome Resources
DOID:12388	neurohypophyseal diabetes insipidus Aliases: Pituitary diabetes insipidus Vasopressin deficiency vasopressin defective diabetes insipidus	AVP	551	Homo sapiens (human)	Alliance of Genome Resources
DOID:3829	pituitary adenoma Aliases: adenoma of the Pituitary gland	AVPR1B CDKN1B SDHA	1027 553 6389	Homo sapiens (human)	Alliance of Genome Resources
DOID:7004	ACTH-secreting pituitary adenoma Aliases: ACTH-Producing Pituitary Adenoma Corticotroph adenoma Corticotropinoma	AVPR1B USP8	553 9101	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112121	nephrogenic syndrome of inappropriate antidiuresis Aliases: NSIAD	AVPR2	554	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081060	X-linked nephrogenic diabetes insipidus Aliases: nephrogenic diabetes insipidus type 1	AVPR2	554	Homo sapiens (human)	Alliance of Genome Resources
DOID:5517	stomach carcinoma Aliases: cancer of the stomach carcinoma of stomach gastric carcinoma	AZGP1 BCOR BRCA1 ERBB2 ERBB3 ERBB4 FGFR2 GRB7 KDM4C KMT2C KRAS MDC1 MMP1 MMP2 MMP9 MRE11 MUTYH PARP1 RNF43 SLC3A2 SPARC SPINT1 TNFAIP3 XPO1 XRCC1	142 2064 2065 2066 2263 23081 2886 3845 4312 4313 4318 4361 4595 54880 54894 563 58508 6520 6678 6692 672 7128 7514 7515 9656	Homo sapiens (human)	Alliance of Genome Resources
DOID:10579	leukodystrophy	Aars1 Acer3 Clcn2 Eif2s1 Eif2s3x	12724 13665 234734 26905 66190	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:10223	dermatomyositis Aliases: Polymyositis with skin involvement dermatopolymyositis	Aars1 Angptl2 Cd36 Cd40 Cd40lg Fas Hgf Ifng Il4 Mbl2 Mmp9 Robo1 Slit2 Thbd Tlr2 Tlr4 Tlr9	12491 14102 15234 15978 16189 17195 17395 19876 20563 21824 21898 21939 21947 234734 24088 26360 81897	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050753	cerebellar ataxia	Aars1 Cacna1a Gemin5 Pnpla6 Syne1 Vps13a Vps13c	12286 216766 234734 271564 320528 50767 64009	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:10595	Charcot-Marie-Tooth disease Aliases: CMT - Charcot-Marie-Tooth disease	Aars1 Cadm3 Fbln5 Itpr3 Jag1 Mpz Mtmr1 Mtmr9 Nefl Pmp22 Slc12a6 Tnfrsf11b Yars1	107271 107723 16440 16449 17528 18039 18383 18858 210376 234734 23876 53332 94332	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:10907	microcephaly Aliases: Microcephalus microencephaly	Aars1 Eftud2 Mfsd2a Psmb1 Tuba1a Tubb5	19170 20624 22142 22154 234734 76574	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111866	trichothiodystrophy Aliases: TTD	Aars1	234734	Mus musculus (house mouse)	Alliance of Genome Resources

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