GlyCosmos Portal

Source	Last Updated
Alliance of Genome Resources	January 28, 2025
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **201 - 225** of **5716** in total

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Disease ID	Disease Name	Gene Symbol ▲	Gene ID	Organism	Source
DOID:0081113	Baraitser-Winter syndrome 2	ACTG1	71	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110550	autosomal dominant nonsyndromic deafness 20 Aliases: DFNA20 DFNA26 autosomal dominant deafness 20	ACTG1	71	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111053	platelet-type bleeding disorder 15 Aliases: BDPLT15 autosomal dominant macrothrombocytopenia ACTN1-related	ACTN1	87	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050431	arrhythmogenic right ventricular cardiomyopathy Aliases: ARVC ARVC cardiomyopathy ARVD arrhythmogenic right ventricular dysplasia arrhythmogenic right ventricular dysplasia/cardiomyopathy right ventricular ACM	ACTN2 CDH2 DES DSC2 DSG2 DSP LMNA PKP2 RYR2 TGFB3 TMEM43	1000 1674 1824 1829 1832 4000 5318 6262 7043 79188 88	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081342	congenital myopathy 8	ACTN2	88	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110428	dilated cardiomyopathy 1AA Aliases: CMD1AA dilated cardiomyopathy 1AA with or without left ventricular noncompaction	ACTN2	88	Homo sapiens (human)	Alliance of Genome Resources
DOID:1312	focal segmental glomerulosclerosis Aliases: FGS FSGS focal glomerular sclerosis focal glomerulosclerosis	ACTN4 CD2AP TRPC6	23607 7225 81	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111128	focal segmental glomerulosclerosis 1 Aliases: FSGS1	ACTN4	81	Homo sapiens (human)	Alliance of Genome Resources
DOID:1070	primary open angle glaucoma Aliases: chronic simple glaucoma	ACVR1 ADIPOQ ADRB2 APOE COL6A3 CYP1B1 LAMB2 LOXL1 MMP1 MYOC NOS3 OGG1 OPTN PON1 SOD2 THBS1 TLR4 TNF TP53 WDR36	10133 1293 134430 154 1545 348 3913 4016 4312 4653 4846 4968 5444 6648 7057 7099 7124 7157 90 9370	Homo sapiens (human)	Alliance of Genome Resources
DOID:13641	exfoliation syndrome Aliases: Pseudoexfoliation glaucoma Pseudoexfoliation syndrome	ACVR1 APOE CLU LOXL1 TLR4	1191 348 4016 7099 90	Homo sapiens (human)	Alliance of Genome Resources
DOID:1405	primary angle-closure glaucoma Aliases: primary Angle Closure Glaucoma	ACVR1 COL18A1 MYRF	745 80781 90	Homo sapiens (human)	Alliance of Genome Resources
DOID:13374	fibrodysplasia ossificans progressiva Aliases: Stone Man Syndrome myositis ossificans progressiva progressive myositis ossificans progressive ossifying myositis	ACVR1	90	Homo sapiens (human)	Alliance of Genome Resources
DOID:5409	lung small cell carcinoma	ACVR1B ATM ATRX CHRNA3 CHRNA9 CYP24A1 E2F1 FAT1 KDM6A KMT2D LAMA3 LAMB3 LAMC2 MTOR PBRM1 PTK2 RARB RICTOR XPO5	1136 1591 1869 2195 2475 253260 3909 3914 3918 472 546 55193 55584 5747 57510 5915 7403 8085 91	Homo sapiens (human)	Alliance of Genome Resources
DOID:1790	malignant mesothelioma Aliases: Diffuse malignant Mesothelioma advanced malignant mesothelioma asbestos-related malignant mesothelioma malignant tumor of Mesothelium	ACVR1B NAT2 SETD2 XRCC1	10 29072 7515 91	Homo sapiens (human)	Alliance of Genome Resources
DOID:219	colon cancer	ACVR2A AKT1 AKT3 ARID1A ATR BRCA1 BRD4 CALR CASP7 CHAF1A CRIPTO CYP24A1 HS3ST2 IL10 IL7R KDM3A LRP1B MAPK14 MRE11 MSH2 NCOA6 PPARG PRKAA1 PTPN13 RICTOR SLC7A5 SRC TGFBR2	10000 10036 1432 1591 207 23054 23476 253260 3575 3586 4361 4436 53353 545 5468 5562 55818 5783 6714 672 6997 7048 811 8140 8289 840 92 9956	Homo sapiens (human)	Alliance of Genome Resources
DOID:3883	Lynch syndrome Aliases: HNPCC Hereditary Defective Mismatch Repair syndrome Hereditary non-polyposis colon cancer Hereditary non-polyposis colon cancer syndrome Hereditary non-polyposis colorectal cancer Hereditary non-polyposis colorectal cancer syndrome Hereditary nonpolyposis colon cancer Hereditary nonpolyposis colon cancer syndrome Hereditary nonpolyposis colorectal cancer syndrome hereditary nonpolyposis colorectal cancer hereditary nonpolyposis colorectal neoplasm	ACVR2A E2F4 KRAS MARCKS MLH1 MRE11 MSH2 MSH6 PMS1 RNASEL RNASET2 SLC22A9 SMAD4 TCF4 TGFBR1 TGFBR2	114571 1874 2956 3845 4082 4089 4292 4361 4436 5378 6041 6925 7046 7048 8635 92	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050545	visceral heterotaxy Aliases: heterotaxia situs ambiguus	ACVR2B CFAP53 CFC1 CFC1B GDF1 MMP21 NODAL PKD1L1	118856 168507 220136 2657 4838 55997 653275 93	Homo sapiens (human)	Alliance of Genome Resources
DOID:1270	hereditary hemorrhagic telangiectasia Aliases: Osler hemorrhagic telangiectasia syndrome Osler-Weber-Rendu disease Rendu-Osler-Weber disease	ACVRL1 ENG GDF2 SMAD4	2022 2658 4089 94	Homo sapiens (human)	Alliance of Genome Resources
DOID:13096	Sneddon syndrome Aliases: Idiopathic livedo reticularis with systemic involvement	ADA2	51816	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060258	reticulate acropigmentation of Kitamura Aliases: RAPK	ADAM10	102	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110050	Alzheimer's disease 18 Aliases: AD18 Alzheimer disease 18 Alzheimer's disease 18, late onset	ADAM10	102	Homo sapiens (human)	Alliance of Genome Resources
DOID:8398	osteoarthritis Aliases: Osteoarthrosis and allied disorder degenerative arthritis degenerative joint disease hypertrophic arthritis osteoarthrosis	ADAM12 ADAMTS14 ADAMTS5 ASPN BAG6 BMP2 CD36 CILP CLEC3B COL2A1 DDR2 ESR1 FCGR2A FGFR1 FRZB GDF5 GHR HFE MATN3 MMP13 MMP3 NCOR2 POMC PTGS2 TNFRSF11B	11096 1280 140766 2099 2212 2260 2487 2690 3077 4148 4314 4322 4921 4982 5443 54829 5743 650 7123 7917 8038 8200 8483 948 9612	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050589	inflammatory bowel disease	ADAM17 AGT ALPI ANO6 B2M EGFR ICAM1 IGFBP3 IL10 IL1RN NPSR1 SLC11A1 TGFB1	183 1956 196527 248 3383 3486 3557 3586 387129 567 6556 6868 7040	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080434	developmental and epileptic encephalopathy 61 Aliases: DEE61 early infantile epileptic encephalopathy 61	ADAM22	53616	Homo sapiens (human)	Alliance of Genome Resources
DOID:3910	lung adenocarcinoma Aliases: bronchogenic lung adenocarcinoma nonsmall cell adenocarcinoma	ADAM28 ALX4 CALR CHD4 CHRNA3 CHRNA5 CHRNB4 CLPTM1L CYP24A1 EGF EGFR ERBB2 ERBB3 ERBB4 ESCO2 FGFR4 KMT2C KRAS LRP1B MAP4K4 MIER3 MSH2 MYC PRDM1 PTCH1 PTPN13 PTPRJ RARB RBM10 RNF43 SETD2 SPOP TERT UBR5 XRCC1 ZFHX3	10863 1108 1136 1138 1143 157570 1591 166968 1950 1956 2064 2065 2066 2264 29072 3845 4436 4609 463 51366 53353 54894 5727 5783 5795 58508 5915 60529 639 7015 7515 81037 811 8241 8405 9448	Homo sapiens (human)	Alliance of Genome Resources

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