GlyCosmos Portal

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

Displaying entries **10601 - 10625** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼	Source
DOID:0080137	multiple endocrine neoplasia type 4 Aliases: Multiple Endocrine Neoplasia, Type IV	CDKN1B	1027	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110658	congenital myasthenic syndrome 15 Aliases: CMS15 congenital myasthenic syndrome 15 without tubular aggregates	ALG14	199857	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080946	retinal dystrophy with leukodystrophy Aliases: ACBD5 deficiency	ACBD5	91452	Homo sapiens (human)	Alliance of Genome Resources
DOID:1227	neutropenia	AP3B1 C5 C5AR1 CSF2 CSF3 CSF3R FCGR2A ITGAM MKI67 PTAFR SRP54 STAT2 STAT3 TNF	1437 1440 1441 2212 3684 4288 5724 6729 6773 6774 7124 727 728 8546	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111392	mucopolysaccharidosis type IVB Aliases: MPS IVB MPS4B Morquio disease type B Morquio syndrome B beta-D-galactosidase deficiency mucopolysaccharidosis type IVB (Morquio)	GALNS GLB1	2588 2720	Homo sapiens (human)	Glyco-Disease Genes Database Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0081292	traumatic brain injury	ADAM10 AHR APP BAD CAPN1 CD163 CIT CYP2D7 DRD1 DRD2 FTO FUBP1 GRIA1 LAMP2 LCN2 MAPT MMP2 NFE2L2 NGF NOX1 PDE10A TGFB1 TP53	102 10846 11113 1564 1812 1813 196 27035 2890 351 3920 3934 4137 4313 4780 4803 572 7040 7157 79068 823 8880 9332	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050787	juvenile polyposis syndrome	ACVR2A ACVR2B BMP2 BMP4 BMPR1A BMPR1B HIVEP1 HIVEP2 HIVEP3 SMAD4 SMAD5	3096 3097 4089 4090 59269 650 652 657 658 92 93	Homo sapiens (human)	Alliance of Genome Resources
DOID:526	human immunodeficiency virus infectious disease Aliases: HIV infection	ABCB1 ABCE1 ATM C3 CCL11 CCL2 CCL5 CCR2 CCR5 CD163 CD209 CD274 CD40 CD40LG CD68 CR2 CXCR1 CYP2B6 EPHB2 FAS FCGR3A GC HLA-B HLA-C HLA-DQA1 HLA-DQB1 HLA-DRA HLA-DRB1 IFNG IL10 IL15 IL21 IL21R IL6 KIR3DL1 KIR3DS1 KMT2E LEPR MBL2 MKI67 NEFL NEFM OPRM1 PDCD1 PLA2G2A PLAUR PPIA PRF1 PTGS2 SELP SERPINA1 SOCS3 STING1 TLR3 TNF TREM1	1234 1380 1555 2048 2214 2638 29126 30835 3106 3107 3117 3119 3122 3123 340061 3458 355 3569 3577 3586 3600 3811 3813 3953 4153 4288 472 4741 4747 4988 50615 5133 5243 5265 5320 5329 54210 5478 5551 55904 5743 59067 6059 6347 6352 6356 6403 7098 7124 718 729230 9021 9332 958 959 968	Homo sapiens (human)	Alliance of Genome Resources
DOID:0040089	autoimmune optic neuritis	NEFH	4744	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110497	autosomal recessive nonsyndromic deafness 39 Aliases: DFNB39 autosomal recessive deafness 39	HGF	3082	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111347	epidermolysis bullosa with congenital localized absence of skin and deformity of nails Aliases: EBD, Bart type epidermolysis bullosa dystrophica, Bart type	COL7A1	1294	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111160	camptodactyly-tall stature-scoliosis-hearing loss syndrome Aliases: CATSHL syndrome	FGFR3	2261	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060303	complement component 9 deficiency	C9	735	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050857	Perrault syndrome	HSD17B4 LARS2	23395 3295	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060251	sclerosteosis	SOST	50964	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111025	cone-rod dystrophy 19 Aliases: CORD19	TTLL5	23093	Homo sapiens (human)	Alliance of Genome Resources
DOID:14671	multiple intestinal atresia Aliases: GIDID Multiple gastrointestinal atresias familial intestinal polyatresia syndrome gastrointestinal defects and immunodeficiency syndrome	TTC7A	57217	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112275	developmental and epileptic encephalopathy 93 Aliases: DEE93 IECEE3 infantile or early childhood epileptic encephalopathy 3	ATP6V1A	523	Homo sapiens (human)	Alliance of Genome Resources
DOID:5041	esophageal cancer Aliases: Ca lower third oesophagus Ca middle third oesophagus esophagus cancer malignant neoplasm of distal third of esophagus malignant neoplasm of lower third of oesophagus malignant neoplasm of middle third of oesophagus malignant neoplasm of proximal third of esophagus malignant neoplasm of upper third esophagus malignant tumor of Distal Third of esophagus malignant tumor of Proximal Third of esophagus malignant tumor of abdominal esophagus malignant tumor of the middle Third of the esophagus	AKT1 CTNNA1 CYP1A1 CYP24A1 GPX3 IL10 IL1R2 IL5 LZTS1 MXI1 MYD88 PIK3CA PTEN TNFAIP3 XRCC1	11178 1495 1543 1591 207 2878 3567 3586 4601 4615 5290 5728 7128 7515 7850	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080552	congenital disorder of glycosylation Ia Aliases: PMM2-congenital disorder of glycosylation congenital disorder of glycosylation 1a	IGF2 IGFALS IGFBP3 PMM1 PMM2	3481 3483 3486 5372 5373	Homo sapiens (human)	Glyco-Disease Genes Database Glyco-Disease Genes Database Glyco-Disease Genes Database Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0081158	dilated cardiomyopathy 1MM	MYBPC3	4607	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080948	agenesis of corpus callosum, cardiac, ocular, and genital syndrome	CDH2	1000	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080596	hyper IgE recurrent infection syndrome 4	IL6ST	3572	Homo sapiens (human)	Alliance of Genome Resources
DOID:8864	acute monocytic leukemia Aliases: acute Monoblastic Leukemia and acute Monocytic Leukemia acute monocytic leukaemia acute monocytic leukaemia without mention of remission acute monocytic leukemia without mention of remission acute monocytic leukemia, FAB M5 acute monocytic leukemia, morphology	MLLT10	8028	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080954	arthrogryposis multiplex congenita	SYNE1 VPS33B	23345 26276	Homo sapiens (human)	Alliance of Genome Resources

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