GlyCosmos Portal

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

Displaying entries **8376 - 8400** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼	Source
DOID:10762	portal hypertension	ALOX5 ANGPT2 AVP AVPR1A BDKRB2 CCL2 CPEB1 CPEB4 CX3CL1 DBH EDN1 EDNRA EDNRB F5 FGFR2 HSP90AA1 MTOR NGFR NOS1 NOS3 NR1D1 PRL PTEN PTGS2 REN SERPINF1 TMEM67 TNF VASH1 VEGFA	1621 1906 1909 1910 2153 2263 22846 240 2475 285 3320 4804 4842 4846 5176 551 552 5617 5728 5743 5972 624 6347 6376 64506 7124 7422 80315 91147 9572	Homo sapiens (human)	Alliance of Genome Resources
DOID:1094	attention deficit hyperactivity disorder Aliases: ADHD attention deficit disorder hyperkinetic disorder	ADGRE1 ADGRE5 ADGRL1 ADGRL2 ADGRL3 ADGRL4 ADRA2A AR BAIAP2 BDNF BRINP1 CALY CDH2 CHRNB2 COMT DBH DOCK3 DRD4 DRD5 FOXP2 GIT1 GRIN2B GRM8 HMGCR HTR1B LGALS3 MEF2A MEF2C MEF2D MMP9 NF1 NTRK2 PER1 PTCHD1 SLC6A2 SLC6A3 SLC6A4 SNAP25 TACR1 TPH1 UST VEGFA VPS4A	1000 10090 10458 1141 1312 139411 150 1620 1621 1795 1815 1816 2015 22859 23266 23284 27183 28964 2904 2918 3156 3351 367 3958 4205 4208 4209 4318 4763 4915 50632 5187 627 64123 6530 6531 6532 6616 6869 7166 7422 93986 976	Homo sapiens (human)	Alliance of Genome Resources
DOID:5683	hereditary breast ovarian cancer syndrome Aliases: BRCA1- and BRCA2-associated hereditary breast and ovarian cancer Breast and Ovarian Cancer syndrome HBOC syndrome Hereditary Breast and Ovarian Cancer syndrome Hereditary breast and ovarian cancer	BRCA1 BRCA2 PALB2 RAD51C	5889 672 675 79728	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110624	primary ciliary dyskinesia 30 Aliases: CILD30 primary ciliary dyskinesia 30 without situs inversus	ODAD3	115948	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060584	Noonan syndrome 6 Aliases: NS6	NRAS	4893	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110336	osteogenesis imperfecta type 8 Aliases: OI8 osteogenesis imperfecta type VIII	P3H1	64175	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110352	retinitis pigmentosa 59 Aliases: RP59	DHDDS	79947	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110967	brachydactyly type A4 Aliases: BDA4 Temtamy type brachydactyly brachymesophalangy II and V	HOXD13	3239	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080507	Cornelia de Lange syndrome 3 Aliases: CDLS3 Cornelia De Lange syndrome 3 with or without midline brain defects	SMC3	9126	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111396	congenital dyserythropoietic anemia type I Aliases: CDA I CDA type 1 CDA type I Congenital dyserythropoietic anaemia type 1 Congenital dyserythropoietic anemia type 1 congenital dyserythropoietic anaemia type I	CDAN1	146059	Homo sapiens (human)	Alliance of Genome Resources
DOID:9884	muscular dystrophy	CAPN3 CHKB COL6A1 COL6A3 DAG1 DMD FKRP FKTN LAMA1 LAMA2 LMNA LMNB1 LMNB2 POMGNT1 POMT1 POMT2 POPDC3 SGCA SGCB SGCD SGCG SGCZ SNTB2 SYNE1 TNF TRIM63 UTRN	10585 1120 1291 1293 137868 1605 1756 2218 23345 284217 29954 3908 4000 4001 55624 64208 6442 6443 6444 6445 6645 7124 7402 79147 825 84676 84823	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112104	Sotos syndrome 3 Aliases: SOTOS3	APC2	10297	Homo sapiens (human)	Alliance of Genome Resources
DOID:9446	cholangitis	CCL2 NRAS	4893 6347	Homo sapiens (human)	Alliance of Genome Resources
DOID:4680	breast metaplastic carcinoma Aliases: Metaplastic carcinoma of the breast	CCN6	8838	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110825	hereditary spastic paraplegia 9B Aliases: SPG9B autosomal recessive complex spastic paraplegia type 9B autosomal recessive spastic paraplegia 9B	ALDH18A1	5832	Homo sapiens (human)	Alliance of Genome Resources
DOID:11949	Creutzfeldt-Jakob disease Aliases: CJD Creutzfeldt Jacob syndrome Creutzfeldt Jakob disease Creutzfeldt-Jacob disease Jakob-Creutzfeldt disease Subacute spongiform encephalopathy Transmissible virus dementia	GALC HLA-DQB1 MAPT NEFH NEFL PRNP PTGS1 PTGS2 SERPINA3 SNCA STX1A YWHAG	12 2581 3119 4137 4744 4747 5621 5742 5743 6622 6804 7532	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060855	autosomal dominant pseudohypoaldosteronism type 1 Aliases: PHA1A autosomal dominant PHA 1	NR3C2	4306	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111431	essential tremor 4 Aliases: ETM4 hereditary essential tremor 4	FUS	2521	Homo sapiens (human)	Alliance of Genome Resources
DOID:9410	panhypopituitarism Aliases: Simmond's disease Simmonds' disease combined pituitary hormone deficiency	OTX2 RNPC3 ROBO1	5015 55599 6091	Homo sapiens (human)	Alliance of Genome Resources
DOID:12995	conduct disorder	AR DRD4 HTR1B	1815 3351 367	Homo sapiens (human)	Alliance of Genome Resources
DOID:5813	purine nucleoside phosphorylase deficiency Aliases: PNP deficiency Purine-Nucleoside Phosphorylase deficiency deficiency of inosine phosphorylase	PNP	4860	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050827	rheumatic heart disease Aliases: rheumatic carditis	ACTA2 BAX CD209 CD36 COL1A1 COL3A1 GAPDH HLA-DQA1 HLA-DQB1 HLA-DRB1 IL10 INHBA LEF1 MMP9 SNAI1 TWIST1 ZEB1	1277 1281 2597 30835 3117 3119 3123 3586 3624 4318 51176 581 59 6615 6935 7291 948	Homo sapiens (human)	Alliance of Genome Resources
DOID:2215	factor VII deficiency Aliases: deficiency, stable	F7	2155	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060305	megalocornea Aliases: anterior megalophthalmos congenital anterior megalophthalmia	LTBP2	4053	Homo sapiens (human)	Alliance of Genome Resources
DOID:4661	multiple chemical sensitivity Aliases: 20th century disease chemical AIDS environmental illness idiopathic environmental illness total allergy syndrome	CYP2C19	1557	Homo sapiens (human)	Alliance of Genome Resources

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