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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 **4051 - 4075** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲	Source
DOID:0081030	central conducting lymphatic anomaly Aliases: lymphatic malformation-7	EPHB4	2050	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110773	hereditary spastic paraplegia 2 Aliases: SPG2 X-linked spastic paraplegia 2 spastic paraplegia type 2	PLP1	5354	Homo sapiens (human)	Alliance of Genome Resources
DOID:9252	amino acid metabolic disorder Aliases: inborn errors of amino acid metabolism	ALDH18A1 CTH ECHS1 GCSH GLUL HIBADH HIBCH HMGCL HMGCLL1 KMO MAT2A PCCA PCCB PHGDH SHMT1 SHMT2 TARS1 TARS2 TARS3	11112 123283 1491 1892 26227 26275 2653 2752 3155 4144 5095 5096 54511 5832 6470 6472 6897 80222 8564	Homo sapiens (human)	Alliance of Genome Resources
DOID:3121	gallbladder cancer Aliases: gallbladder Ca gallbladder neoplasm localized malignant gallbladder neoplasm malignant neoplasm of gallbladder malignant tumor of the gallbladder malignant tumour of gallbladder tumor of the gallbladder	APC APOB APOE BUB1B CALR CCR5 CYP17A1 CYP1A1 DPYD EGF GLI1 JUNB KEAP1 LRP1B RBP4 RICTOR XRCC1	1234 1543 1586 1806 1950 253260 2735 324 338 348 3726 53353 5950 701 7515 811 9817	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111598	distal arthrogryposis type 1B Aliases: DA1B	MYBPC1	4604	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112000	immunodeficiency 34 Aliases: AMCBX2 IMD34 X-linked MSMD due to CYBB deficiency X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency familial atypical mycobacteriosis X-linked 2 immunodeficiency 34, mycobacteriosis, X-linked	CYBB	1536	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110181	Charcot-Marie-Tooth disease axonal type 2Z Aliases: CMT2Z Charcot-Marie-Tooth neuropathy type 2Z autosomal dominant axonal Charcot-Marie-Tooth disease type 2Z	MORC2	22880	Homo sapiens (human)	Alliance of Genome Resources
DOID:1003	pelvic inflammatory disease Aliases: PID	IL4 PTX3	3565 5806	Homo sapiens (human)	Alliance of Genome Resources
DOID:2596	larynx cancer	CXCR4 ERCC5 ERCC6 GPX1 NOD2 VEGFA	2073 2074 2876 64127 7422 7852	Homo sapiens (human)	Alliance of Genome Resources
DOID:2237	hepatitis Aliases: acute and subacute liver necrosis acute hepatitis acute/subac. necrosis of liver animal hepatitis chronic hepatitis chronic persistent hepatitis	ABO AFP ATP7B F5 GOLM1 IFNG LIPC NOS2 OGG1 PDCD1 SPP1 TF	174 2153 28 3458 3990 4843 4968 51280 5133 540 6696 7018	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080940	hereditary angioedema type III	F12	2161	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110150	Charcot-Marie-Tooth disease type 1D Aliases: CMT1D Charcot-Marie-Tooth neuropathy type 1D HMSN ID HMSN1D hereditary motor and sensory neuropathy 1D	EGR2	1959	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060597	atypical chronic myeloid leukemia, BCR-ABL1 negative Aliases: aCML atypical CML atypical chronic myeloid leukaemia atypical chronic myeloid leukaemia BCR-ABL1 negative atypical chronic myeloid leukemia BCR-ABL1 negative subacute myeloid leukemia	FGFR1	2260	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:0111594	distal arthrogryposis type 5D Aliases: DA5D distal arthrogryposis type 5 without ophthalmoparesis distal arthrogryposis type 5 without ophthalmoplegia	ECEL1	9427	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070062	Arboleda-Tham syndrome Aliases: ARTHS MRD32 autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome autosomal dominant mental retardation 32 autosomal dominant non-syndromic intellectual disability 32	KAT6A	7994	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050650	familial atrial fibrillation Aliases: ATFB	ABCC9 KCNE2 KCNQ1 NPPA NUP155 SCN1B SCN2B SCN5A ZFHX3	10060 3784 463 4878 6324 6327 6331 9631 9992	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080076	Neu-Laxova syndrome 1	PHGDH	26227	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081128	mandibuloacral dysplasia type A lipodystrophy	LMNA	4000	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110248	cataract 30 Aliases: CTRCT30 Dusty cataract cataract 30 pulverulent cataract Coppock-like	VIM	7431	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112233	lissencephaly 8 Aliases: LIS8	TMTC3	160418	Homo sapiens (human)	Alliance of Genome Resources
DOID:8158	complement component 5 deficiency Aliases: C5 deficiency	C5	727	Homo sapiens (human)	Alliance of Genome Resources
DOID:9669	senile cataract	ATM CAT CDKN1B HSPA1B MT2A OGG1 SIRT1 XRCC1	1027 23411 3304 4502 472 4968 7515 847	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110964	brachydactyly type A1 Aliases: BDA1 Farabee type brachydactyly	GDF5 IHH	3549 8200	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081015	congenital fibrosis of the extraocular muscles 1	KIF21A	55605	Homo sapiens (human)	Alliance of Genome Resources

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