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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 **7401 - 7425** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲	Source
DOID:0110995	Joubert syndrome 26 Aliases: JBTS26	KATNIP	23247	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050836	focal dystonia	TOR1A	1861	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110726	neuronal ceroid lipofuscinosis 2 Aliases: CLN2 neuronal ceroid lipofuscinosis 2 variable age at onset	TPP1	1200	Homo sapiens (human)	Alliance of Genome Resources
DOID:10587	Krabbe disease Aliases: Diffuse globoid body sclerosis GLOBOID CELL LEUKOENCEPHALOPATHY Galactosylceramide beta-galactosidase deficiency Krabbe's disease Krabbe's leukodystrophy beta galactocerebrosidase deficiency globoid cell leukodystrophy	GALC PSAP	2581 5660	Homo sapiens (human)	Glyco-Disease Genes Database Glyco-Disease Genes Database Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0112349	hereditary spastic paraplegia 81 Aliases: SPG81 autosomal recessive complex SPG due to Kennedy pathway dysfunction autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction spastic paraplegia 81 autosomal recessive	SELENOI	85465	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050632	oculocutaneous albinism	DCT OCA2 SLC45A2 TYR TYRP1	1638 4948 51151 7299 7306	Homo sapiens (human)	Alliance of Genome Resources
DOID:11199	hypoparathyroidism	GATA3 TBCE	2625 6905	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111063	hyperphosphatemic familial tumoral calcinosis Aliases: HFTC HHS PHPTC cortical hyperostosis with hyperphosphatemia familial Teutschlaender disease familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome hypercalcemic tumoral calcinosis hyperostosis with hyperphosphatemia hyperphosphatemia hyperostosis hyperphosphatemia hyperostosis syndrome hyperphosphatemia tumoral calcinosis lipocalcinogranulomatosis morbus Teutschlaender primary hyperphosphatemic tumoral calcinosis tumoral calcinosis with hyperphosphatemia	GALNT3 GOLGB1 KL	2591 2804 9365	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0070005	Seckel syndrome 9 Aliases: SCKL9	TRAIP	10293	Homo sapiens (human)	Alliance of Genome Resources
DOID:9513	plasma cell leukemia Aliases: plasma cell leukaemia plasmacytic leukaemia plasmacytic leukemia	CD40 TERT	7015 958	Homo sapiens (human)	Alliance of Genome Resources
DOID:14289	Ebstein anomaly Aliases: Ebstein's anomaly Ebstein's anomaly of common atrioventricular valve Ebstein's anomaly of right atrioventricular valve Ebstein's anomaly of tricuspid valve	BMPR1A	657	Homo sapiens (human)	Alliance of Genome Resources
DOID:11336	rhinoscleroma	HLA-DQA1 HLA-DQB1	3117 3119	Homo sapiens (human)	Alliance of Genome Resources
DOID:3756	protein C deficiency	PROC	5624	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060672	Grn-related frontotemporal lobar degeneration with Tdp43 inclusions	GRN TARDBP	23435 2896	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060670	cerebral cavernous malformation 2	CCM2	83605	Homo sapiens (human)	Alliance of Genome Resources
DOID:1350	paranasal sinus benign neoplasm Aliases: neoplasm of accessory sinus tumor of Accessory sinus	ANXA1 ANXA2 TP53	301 302 7157	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110477	autosomal recessive nonsyndromic deafness 2 Aliases: DFNB2 autosomal recessive deafness 2	MYO7A	4647	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050776	non-syndromic X-linked intellectual disability Aliases: non-specific X-linked mental retardation	ACSL3 ACSL4 ALX4 ARX CSTF2 FTSJ1 IQSEC2 THADA ZMYM3	1478 170302 2181 2182 23096 24140 60529 63892 9203	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080137	multiple endocrine neoplasia type 4 Aliases: Multiple Endocrine Neoplasia, Type IV	CDKN1B	1027	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050565	autosomal recessive nonsyndromic deafness	CDH23 CLRN2 GPR156 MINAR2 PKHD1L1 TMTC4	100127206 165829 64072 645104 84899 93035	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110031	hemoglobin H disease Aliases: HBH alpha thalassemia, haemoglobin H type alpha thalassemia, hemoglobin H type alpha-thalassemia intermedia haemoglobin H disease haemoglobin H disease, deletional hemoglobin H disease, deletional	HBA1 HBA2	3039 3040	Homo sapiens (human)	Alliance of Genome Resources
DOID:5940	malignant peripheral nerve sheath tumor Aliases: malignant neoplasm of the peripheral nerve Sheath	TP53	7157	Homo sapiens (human)	Alliance of Genome Resources
DOID:8295	scabies Aliases: Infestation by Sarcoptes scabiei Infestation by Sarcoptes scabiei var hominis Sarcoptic itch	CAT	847	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110731	neuronal ceroid lipofuscinosis 3 Aliases: Batten disease CLN3 juvenile neuronal ceroid lipofuscinosis	CLCN3 CLCN6 CLN3 PPT1	1182 1185 1201 5538	Homo sapiens (human)	Alliance of Genome Resources
DOID:2526	prostate adenocarcinoma	ADIPOQ AKT1 AKT2 AKT3 AR BIN1 CD9 CLU CREB3L4 GRB2 IGF1R IKBKB INSR JUN KDR MAP2K1 MYC NCOA2 PAM PDGFA PDGFRA PIK3CB PRKCQ RAF1 RELA STAT1	10000 10499 1191 148327 207 208 274 2885 3480 3551 3643 367 3725 3791 4609 5066 5154 5156 5291 5588 5604 5894 5970 6772 928 9370	Homo sapiens (human)	Alliance of Genome Resources

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