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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	January 28, 2025
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **2976 - 3000** of **4115** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲	Source
DOID:0070149	hereditary sensory and autonomic neuropathy type 7 Aliases: HSAN7 hereditary sensory and autonomic neuropathy type VII	SCN11A	11280	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111302	generalized epilepsy with febrile seizures plus 1 Aliases: GEFS+1 GEFSP1 generalised epilepsy with febrile seizures plus 1 generalised epilepsy with febrile seizures plus type 1 generalized epilepsy with febrile seizures plus type 1	SCN1B	6324	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112271	spermatogenic failure 49 Aliases: SPGF98	CFAP58	159686	Homo sapiens (human)	Alliance of Genome Resources
DOID:440	neuromuscular disease	GPI	2821	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060558	lethal congenital contracture syndrome	ADCY6 ADGRG6 CNTNAP1 DNM2 GLDN NEK9	112 1785 342035 57211 8506 91754	Homo sapiens (human)	Alliance of Genome Resources
DOID:1339	Diamond-Blackfan anemia Aliases: Blackfan - Diamond syndrome chronic constitutional pure red cell anaemia	HEATR3 RPS19	55027 6223	Homo sapiens (human)	Alliance of Genome Resources
DOID:1307	dementia	GRN HMGCR IGF1R LRP8 LRPAP1 MAPT NOS2 NOTCH4 NRG1 PON1 VCP VLDLR	2896 3084 3156 3480 4043 4137 4843 4855 5444 7415 7436 7804	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110384	retinitis pigmentosa 25 Aliases: RP25	EYS	346007	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111180	French Canadian Leigh disease Aliases: French Canadian type COX deficiency French Canadian type Leigh syndrome French Canadian type cytochrome c oxidase deficiency Saguenay Lac saint Jean type COX deficiency Saguenay Lac saint Jean type Leigh syndrome mitochondrial complex IV deficiency nuclear type 5	LRPPRC	10128	Homo sapiens (human)	Alliance of Genome Resources
DOID:811	lipodystrophy	AGPAT2 BSCL2 LMNA PPARG	10555 26580 4000 5468	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050816	urofacial syndrome Aliases: Ochoa syndrome hydronephrosis with peculiar facial expression	HPSE2 LRIG2	60495 9860	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070177	spermatogenic failure 22 Aliases: SPGF22	MEIOB	254528	Homo sapiens (human)	Alliance of Genome Resources
DOID:3525	middle cerebral artery infarction	ALB CSF3 EPO F12 IL1RN NCAM1 NRG1 PARK7 SHH	11315 1440 2056 213 2161 3084 3557 4684 6469	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110057	amelogenesis imperfecta type 2A1 Aliases: AI2A1 amelogenesis imperfecta pigmented hypomaturation type 1 amelogenesis imperfecta type IIA1	KLK4	9622	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080097	myofibrillar myopathy 6	BAG3	9531	Homo sapiens (human)	Alliance of Genome Resources
DOID:2566	corneal dystrophy	ELOVL4 KERA TACSTD2 TGFBI	11081 4070 6785 7045	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112038	non-syndromic X-linked intellectual disability 1 Aliases: MRX1 MRX18 MRX78 X-linked mental retardation 1 X-linked mental retardation 1/78 X-linked mental retardation 18 X-linked mental retardation 78	IQSEC2	23096	Homo sapiens (human)	Alliance of Genome Resources
DOID:14766	renal agenesis Aliases: hereditary renal aplasia hereditary urogenital adysplasia renal adysplasia renal aplasia	GFRA1 GREB1L ITGA8	2674 80000 8516	Homo sapiens (human)	Alliance of Genome Resources
DOID:4362	cervical cancer Aliases: cervical neoplasm cervix cancer cervix uteri cancer neoplasm of uterine cervix tumor of the Cervix Uteri uterine cervical neoplasm	APEX1 BRCA1 CDC25A CDH13 HLA-B HLA-DPB1 HLA-DQB1 KDM3A KMT2A KMT2E MAP2K3 MAP2K6 MMP1 SF3B4 TAP1 TNF TNFRSF10A XRCC1	1012 10262 3106 3115 3119 328 4297 4312 55818 55904 5606 5608 672 6890 7124 7515 8797 993	Homo sapiens (human)	Alliance of Genome Resources
DOID:1577	limited scleroderma Aliases: Limited cutaneous systemic sclerosis systemic sclerosis, limited	IL2 STAT4	3558 6775	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:9270	alkaptonuria Aliases: Homogentisate 1,2-dioxygenase deficiency alcaptonuria	HGD	3081	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111331	intellectual disability-severe speech delay-mild dysmorphism syndrome Aliases: FOXP1 Haploinsufficiency FOXP1 syndrome FOXP1-Related Neurodevelopmental Disorder Mental retardation with language impairment and with or without autistic features	FOXP1	27086	Homo sapiens (human)	Alliance of Genome Resources
DOID:5637	pancreatic adenosquamous carcinoma Aliases: Adenosquamous carcinoma of pancreas	TGFB2	7042	Homo sapiens (human)	Alliance of Genome Resources
DOID:289	endometriosis	ESR1 HLA-DRB1 PGR SERPINF1 TNFRSF1B	2099 3123 5176 5241 7133	Homo sapiens (human)	Alliance of Genome Resources

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