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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 **12376 - 12400** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼	Source
DOID:0050436	mulibrey nanism Aliases: MUL Mulibrey growth disorder Muscle-Liver-Brain-Eye Nanism PERICARDIAL CONSTRICTION AND GROWTH FAILURE Perheentupa Syndrome	TRIM37	4591	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111015	Newfoundland cone-rod dystrophy Aliases: NFRCD	RLBP1	6017	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080770	autosomal dominant beta thalassemia Aliases: inclusion body beta-thalassemia	HBB	3043	Homo sapiens (human)	Alliance of Genome Resources
DOID:14400	capillary leak syndrome	PON1	5444	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081220	autosomal recessive intellectual developmental disorder 58	ELP2	55250	Homo sapiens (human)	Alliance of Genome Resources
DOID:4972	myelodysplastic/myeloproliferative neoplasm Aliases: Myeloproliferative/Myelodysplastic syndromes myelodysplastic myeloproliferative cancer	DIDO1	11083	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111498	combined oxidative phosphorylation deficiency 22 Aliases: COXPD22	ATP5F1A	498	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050753	cerebellar ataxia	AARS1 AARS2 CACNA1A GEMIN5 L2HGDH PNPLA6 PNPLA7 RPGRIP1L SYNE1 VPS13A VPS13C	10908 16 23230 23322 23345 25929 375775 54832 57505 773 79944	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110435	dilated cardiomyopathy 1GG Aliases: CMD1GG	SDHA	6389	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111605	distal arthrogryposis type 2A Aliases: DA2A distal arthrogryposis type 2A (Freeman-Sheldon)	MYH15 MYH1 MYH7	22989 4619 4625	Homo sapiens (human)	Alliance of Genome Resources
DOID:6132	bronchitis Aliases: CI - Chest infection Chest infection acute Bronchitis chest cold chronic bronchitis recurrent wheezy bronchitis	CYP1A1 HDAC2	1543 3066	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111206	autosomal dominant distal hereditary motor neuronopathy 2 Aliases: HMN II HMN IIA HMN2 HMN2A autosomal dominant adult spinal muscular atrophy IIA distal hereditary motor neuronopathy type 2 distal hereditary motor neuronopathy type 2A distal hereditary motor neuropathy type II distal hereditary motor neuropathy type IIA spinal Charcot-Marie-Tooth disease IIA	CRYAA HSPB8	1409 26353	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060774	congenital diarrhea	ACSL5 PLVAP WNT2B	51703 7482 83483	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081120	Graves ophthalmopathy Aliases: Graves orbitopathy Thyroid associated ophthalmopathy thyroid eye disease	CAT CCL2 CTLA4 ICAM1 IFNG IL10 IL1A IL1RN IL23R IL2 IL3 PPARG SERPINE1 TNF TSHR	149233 1493 3383 3458 3552 3557 3558 3562 3586 5054 5468 6347 7124 7253 847	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111636	autosomal recessive nonsyndromic deafness 113 Aliases: DFNB113 autosomal recessive deafness 113	CEACAM16	388551	Homo sapiens (human)	Alliance of Genome Resources
DOID:790	ocular hypotension Aliases: Hypotony of eye	ACE	1636	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050466	Loeys-Dietz syndrome	TGFB2 TGFBR1 TGFBR2	7042 7046 7048	Homo sapiens (human)	Alliance of Genome Resources
DOID:10763	hypertension Aliases: HTN hyperpiesia vascular hypertensive disorder	ABAT ABCC8 ABCC9 ABO ACE2 ACE ACSM3 ACTC1 ADAMTS16 ADCY5 ADD1 ADD2 ADD3 ADM ADORA1 ADORA2A ADRA1A ADRA2A ADRB1 ADRB2 ADRB3 AGER AGT AGTR1 AGTR2 AHR AKT1 AKT2 ALDH2 ALOX12 ALOX5 ANGPT1 ANXA1 APOA1 APOE APP AQP1 AQP2 AQP4 AR ARNT ATF2 ATP1A1 ATP1A2 ATP2A3 ATP5F1A ATP6AP2 AVP AVPR1A AVPR2 B2M BAD BAX BCHE BDKRB1 BDKRB2 BMP2 BRCA1 C3 CACNB2 CASP9 CAST CAT CCL28 CCL2 CCL5 CCR5 CD14 CD36 CD82 CHGA CHI3L1 CHST12 CLCNKB CLOCK CLU CNR1 COL6A3 COMT CORIN CPS1 CREB1 CRHR1 CTSC CYBB CYP11A1 CYP11B1 CYP11B2 CYP19A1 CYP1A1 CYP1B1 CYP2C18 CYP2C9 CYP2J2 CYP2R1 CYP4A11 CYP4A22 CYP4F12 CYP4F2 CYP4F8 DBH DRD1 DRD2 DRD3 ECE1 EDN1 EDN2 EDNRA EDNRB EGFR EIF4G2 ENG ENO1 ENO2 ENTPD2 EP300 EPHX2 EPOR F11R F2R F3 F7 FADD FADS1 FBN1 FN1 FOS FTO GABBR1 GAL GCK GLCE GLP1R GNAI2 GNAI3 GNAS GPX1 GPX3 GRK3 GSK3B GSTM2 H2AX HAVCR1 HDAC6 HGF HIF1A HK2 HLA-DQA1 HP HPR HRH3 HSD11B1 HSD11B2 HSD17B4 HSD3B1 HSD3B2 HSPA8 HSPD1 HSPG2 HTR1B HTR2A ICAM1 IGF1R IGFBP2 IKBKB IL10 IL17A IL1RN IL6 IL6R IL6ST INPPL1 INS INVS ITGA9 ITGAV JUN KCNA3 KCNJ11 KCNMB1 KCNN4 KCNQ1 KDR KL KLK1 KLKB1 LDHA LEP LEPR LGALS3 LINC02210-CRHR1 LIPG LOX LPL LRP2 LTA MAS1 MIF MME MMP1 MMP2 MMP9 MOV10 MTOR MTR MYH7 MYO6 NFE2L2 NGF NGFR NOS1 NOS2 NOS3 NOX4 NPHP3 NPPA NPPB NPPC NPR1 NPR3 NPY1R NR2F2 NR3C1 OGG1 OLR1 OPA1 OXTR PAPPA PDGFB PDGFRA PDGFRB PGF PKM PLCD1 PLEKHA7 PON1 POSTN PPARA PPARG PRKCA PRKG1 PRLHR PTGDS PTGIS PTGS2 PTK2 PTPN1 PTPRC PTPRD PTPRJ RAMP2 RBP4 RELA REN RHOA RNPEP S1PR1 SERPINA1 SERPINE1 SERPINE2 SERPINF2 SLC12A2 SLC2A14 SLC2A1 SLC2A3 SLC4A4 SLC5A2 SLC6A19 SLC6A2 SLC6A3 SLC8A1 SLC9A3 SOD1 SOD2 SOD3 SQSTM1 SRC SRF STS TACR3 TBXAS1 TF TGFB1 TGFB3 THBD TIMP1 TJP2 TNF TNFRSF11B TRHR UCP2 UCP3 UGCG UTS2R VCAM1 VEGFA VWF WNK1 XRCC1 YWHAZ	10013 10060 10159 10266 104909134 10631 10699 1075 111 1113 1116 11255 11283 118 1188 119 1191 120 120227 1234 1268 1293 1312 133 134 135 1373 1385 1386 1394 144100 144195 148 150 153 1536 154 1543 1545 155 1559 1562 157 1573 1579 1583 1584 1585 1588 1621 1636 170690 177 18 1812 1813 1814 183 185 186 1889 1901 1906 1907 1909 1910 1956 196 1982 2022 2023 2026 2033 2053 2057 207 208 2149 2152 2155 217 2200 2335 2353 239 240 2475 2550 26035 2645 26762 27031 27130 2740 2771 2773 2778 28 2834 2837 284 284541 2876 2878 2908 2932 2946 301 3014 3082 3091 3099 3117 3240 3250 3283 3284 3290 3291 3295 3312 3329 3339 335 3351 3356 3383 340024 348 3480 3485 351 3551 3557 3569 3570 3572 358 3586 359 3605 361 3630 3636 367 3680 3685 3725 3732 3738 3767 3779 3783 3784 3791 3816 3818 387 3939 3952 3953 3958 3992 4015 4023 4036 4049 405 412 4142 4282 4311 4312 4313 4318 4343 4548 4625 4646 476 477 4780 4803 4804 4842 4843 4846 4878 4879 4880 4881 4883 4886 489 4968 4973 4976 498 4982 5021 50507 5054 5069 50848 51083 5155 5156 5159 5228 5265 5270 5315 5333 5345 5444 5465 5468 551 552 554 55501 5578 5592 56477 567 572 5730 5740 5743 5747 5770 5788 5789 5795 581 590 59272 5950 5970 5972 6051 623 624 6296 6347 6352 650 65125 6513 6515 6524 6530 6531 6546 6550 6558 66002 6647 6648 6649 6714 672 6722 6833 6870 6916 70 7018 7026 7040 7043 7056 7076 7124 718 7201 7351 7352 7357 7412 7422 7450 7515 7534 783 79068 831 842 847 8529 8671 8772 8878 929 9365 9388 9414 948 954 9575	Homo sapiens (human)	Alliance of Genome Resources
DOID:14711	FG syndrome Aliases: Keller syndrome Opitz-Kaveggia syndrome	CASK MED12	8573 9968	Homo sapiens (human)	Alliance of Genome Resources
DOID:11252	microcytic anemia	DNM1 DNM2 TMPRSS6	164656 1759 1785	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090117	thiamine-responsive megaloblastic anemia syndrome Aliases: Rogers syndrome THMD1 TRMA thiamine metabolism dysfunction syndrome 1 thiamine-responsive anaemia syndrome thiamine-responsive anemia syndrome thiamine-responsive megaloblastic anaemia syndrome thiamine-responsive megaloblastic anaemia with diabetes mellitus and sensorineural deafness thiamine-responsive megaloblastic anemia with diabetes mellitus and sensorineural deafness thiamine-responsive myelodysplasia	SLC19A2	10560	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070067	White-Sutton syndrome Aliases: MRD37 WHSUS autosomal dominant mental retardation 37	POGZ	23126	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110361	retinitis pigmentosa 75 Aliases: RP75	AGBL5	60509	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070395	developmental and epileptic encephalopathy 110 Aliases: DEE110 early infantile epileptic encephalopathy 110	CACNA2D1	781	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110663	congenital myasthenic syndrome 1A Aliases: CMS IIa CMS1A congenital myasthenic syndrome 1A, slow-channel congenital myasthenic syndrome type IIa	CAST CHRNA1	1134 831	Homo sapiens (human)	Alliance of Genome Resources

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