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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 **7951 - 7975** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼	Source
DOID:0060639	permanent neonatal diabetes mellitus Aliases: PDMI PNDM permanent diabetes mellitus of infancy	ABCC8 GCK INS KCNJ11	2645 3630 3767 6833	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110415	retinitis pigmentosa 2 Aliases: RP2	ARL3	403	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080415	developmental and epileptic encephalopathy 23 Aliases: DEE23 Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome Epilepsy-cortical blindness-intellectual disability-facial dysmorphism syndrome early infantile epileptic encephalopathy 23	DOCK7	85440	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110144	Bartter disease type 3 Aliases: BARTS3 Bartter syndrome type 3 classic Bartter syndrome	CLCNKB	1188	Homo sapiens (human)	Alliance of Genome Resources
DOID:0014667	disease of metabolism Aliases: metabolic disease	ADRB2 BAAT DLD HSPA8 INS LDHA LDHAL6A LDHAL6B LDHB LDHC NBN PDHA1 PDHA2 PFKL PFKM PFKP PKLR PKM PTEN PTPN11 RHEB SREBF1 TJP2 YTHDF1 YTHDF2 YTHDF3	154 160287 1738 253943 3312 3630 3939 3945 3948 4683 51441 5160 5161 5211 5213 5214 5313 5315 54915 570 5728 5781 6009 6720 92483 9414	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090070	hypogonadotropic hypogonadism Aliases: congenital idiopathic hypogonadotropic hypogonadism hypogonadotropism isolated congenital gonadotropin deficiency	NDNF TCF12	6938 79625	Homo sapiens (human)	Alliance of Genome Resources
DOID:14018	alcoholic liver cirrhosis Aliases: Alcoholic Cirrhosis Alcoholic cirrhosis of liver Laennec's cirrhosis Laennec's cirrhosis, alcoholic Portal cirrhosis	ALDH2 CYP2E1 DDR1 DDR2 GABRG2 IL18BP LEP MMP13 NR1D1 PLAU SERPINE1 SERPINF1 SOD2 TG TLR9	10068 1571 217 2566 3952 4322 4921 5054 5176 5328 54106 6648 7038 780 9572	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111136	congenital generalized lipodystrophy type 2 Aliases: Berardinelli-Seip congenital lipodystrophy type 2 Berardinelli-Seip syndrome Brunzell syndrome BSCL2-related CGL2 congenital lipoatrophic diabetes total lipodystrophy and acromegaloid gigantism	BSCL2 PPARG	26580 5468	Homo sapiens (human)	Alliance of Genome Resources
DOID:13481	thanatophoric dysplasia	FGFR3 HSPG2	2261 3339	Homo sapiens (human)	Alliance of Genome Resources
DOID:8252	chronic rhinitis Aliases: Rhinitis - chronic	EDN1	1906	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060560	lethal congenital contracture syndrome 2 Aliases: LCCS2 multiple contracture syndrome, Israeli-Bedouin type	ERBB3	2065	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110984	Joubert syndrome 15 Aliases: JBTS15	CEP41	95681	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111715	Schaaf-Yang syndrome Aliases: MAGEL2-related PWLS MAGEL2-related Prader-Willi-like syndrome PWLS SHFYNG	CYFIP1 MAGEL2	23191 54551	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110871	congenital stationary night blindness 2A Aliases: congenital stationary night blindness 2A X-linked	CACNA1F	778	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070430	combined oxidative phosphorylation deficiency 57 Aliases: COXPD57	CRLS1	54675	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111418	familial apolipoprotein C-II deficiency Aliases: C-II anapolipoproteinemia familial APOC2 deficiency familial apoC-II deficiency hyperlipoproteinemia, type 1b hyperlipoproteinemia, type Ib	APOC2	344	Homo sapiens (human)	Alliance of Genome Resources
DOID:8557	oropharynx cancer Aliases: Oropharyngeal carcinoma malignant Oropharyngeal tumor malignant tumor of oropharynx malignant tumour of mesopharynx oropharyngeal cancer	ERN1	2081	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081020	congenital fibrosis of the extraocular muscles 5	COL25A1	84570	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070096	oculocutaneous albinism type II Aliases: OCA2 Oculocutaneous Albinism, Tyrosinase-Positive	MC1R OCA2	4157 4948	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081074	Teebi hypertelorism syndrome 2	CDH11	1009	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112306	Mahvash Disease Aliases: GCGR-related hyperglucagonemia nesidioblastosis, alpha cell hyperplasia, microglucagonoma, and nonfunctioning islet cell tumor	GCGR	2642	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110290	autosomal recessive limb-girdle muscular dystrophy type 2X Aliases: LGMD2X muscular dystrophy, limb-girdle, type 2X	POPDC1	11149	Homo sapiens (human)	Alliance of Genome Resources
DOID:9007	sudden infant death syndrome Aliases: Cot death Crib death SIDS Sudden death of nonspecific cause in infancy	SCN5A SLC6A4 VEGFA	6331 6532 7422	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050872	large cell neuroendocrine carcinoma	SLC7A5	8140	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110771	hereditary spastic paraplegia 18 Aliases: IDMDC SPG18 autosomal recessive spastic paraplegia 18 autosomal recessive spastic paraplegia type 18 intellectual disability, motor dysfunction and joint contractures	ERLIN2	11160	Homo sapiens (human)	Alliance of Genome Resources

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