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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 **9601 - 9625** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼	Source
DOID:8691	mycosis fungoides Aliases: mycosis fungoides lymphoma	CLU HIF1A HLA-DQB1 SOD2	1191 3091 3119 6648	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060751	familial temporal lobe epilepsy 7 Aliases: ETL7	RELN	5649	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110366	retinitis pigmentosa 33 Aliases: RP33	SNRNP200	23020	Homo sapiens (human)	Alliance of Genome Resources
DOID:12858	Huntington's disease Aliases: HD Huntington disease Huntington's chorea	ABAT ACHE AGTR1 APOA4 ATF2 BAX BCHE BDNF CASP9 CAT CNR2 CREB1 CREBBP CTSH DNAJB2 DRD1 E2F1 EIF2AK2 ELK1 F2 FAS FASLG FKBP11 FOXP1 GIT1 GLUL GPX1 GPX6 GRIK2 GRIN2A GRIN2B HSF1 HTT IL6 IL6R ITPR1 LCP1 LEP MAP2 MBP MMP9 MTNR1A NCOR1 ND3 NFE2L2 NGFR NOG NOS3 NPY2R NRF1 OPTN PACSIN2 PARP1 PLS1 PLS3 PPARD PPARGC1A PPP1R9A PRKAA1 PTGS2 QPRT RRS1 SETDB1 SIN3A SIRT1 SLC18A3 SLC1A2 SRSF6 SYNE3 TBP TFAM TRIP10 UCP2 WIPI1 WIPI2 YBX2 ZDHHC13	10133 10891 11252 1269 1385 1386 1387 142 1512 161176 18 1812 185 1869 2002 2147 23212 23411 23475 257202 25942 26100 27086 2752 2876 28964 2898 2903 2904 3064 3297 3300 337 355 356 3569 3570 3708 3936 3952 4133 4155 43 4318 4537 4543 4780 4804 4846 4887 4899 51087 51303 5357 5358 54503 5467 55062 55607 5562 5610 5743 581 590 627 6431 6506 6572 6908 7019 7351 842 847 9241 9322 9611 9869	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111202	autosomal dominant distal hereditary motor neuronopathy 14 Aliases: DHMN7B HMN VIIB HMN7B Harper-Young myopathy distal hereditary motor neuronopathy type 7B distal hereditary motor neuropathy type VIIB distal spinal muscular atrophy with vocal cord paralysis type 7B	DCTN1	1639	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080090	reducing body myopathy 1A	FHL1	2273	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110448	dilated cardiomyopathy 1HH Aliases: CMD1HH	BAG3	9531	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060037	developmental disorder of mental health	ASH1L DLG1 GABRB1 GABRB2 GABRB3 GABRD GABRP GABRQ GABRR1 GABRR2 GABRR3 GIGYF2 GRIN2A GRIN2B GRIN2C GRIN2D NAA15 NAA16 NCKAP1 NCOR1 NCOR2 PARD3 PLXNB1 PLXNB2 PLXNB3 PLXND1 RASAL2 RASAL3 RING1 RNF2 RUNX3 SIN3A SIN3B SRCAP SYNGAP1 TACR1 TCF12 TCF3 TCF4	10787 10847 1739 200959 23129 23309 23654 2560 2561 2562 2563 2568 2569 2570 25942 26058 2903 2904 2905 2906 5364 5365 55870 55879 56288 6015 6045 64926 6869 6925 6929 6938 79612 80155 864 8831 9462 9611 9612	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111608	distal arthrogryposis type 5 Aliases: DA5 DAIIB arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome distal arthrogryposis type IIB distal arthrogryposis with ophthalmoplegia oculomelic amyoplasia	PIEZO2	63895	Homo sapiens (human)	Alliance of Genome Resources
DOID:2997	Sertoli-Leydig cell tumor	INHA	3623	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060206	amyotrophic lateral sclerosis type 15 Aliases: ALS15 amyotrophic lateral sclerosis 15 amyotrophic lateral sclerosis 15, with or without frontotemporal dementia	UBQLN1 UBQLN2 UBQLN4	29978 29979 56893	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070418	vertebral hypersegmentation and orofacial anomalies Aliases: VHO	GDF11 MSTN	10220 2660	Homo sapiens (human)	Alliance of Genome Resources
DOID:9245	Alagille syndrome Aliases: Alagille-Watson syndrome Arteriohepatic dysplasia	JAG1 NOTCH2	182 4853	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110200	Charcot-Marie-Tooth disease dominant intermediate D Aliases: CMTDID Charcot-Marie-Tooth neuropathy dominant intermediate D DI-CMTD autosomal dominant intermediate Charcot-Marie-Tooth disease type D	MPZ	4359	Homo sapiens (human)	Alliance of Genome Resources
DOID:251	alcohol-induced mental disorder	DRD2 FOXO4	1813 4303	Homo sapiens (human)	Alliance of Genome Resources
DOID:9432	renal glycosuria Aliases: renal diabetes	HNRNPF SLC5A2	3185 6524	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110383	retinitis pigmentosa 7 Aliases: RP7	PRPH2 ROM1	5961 6094	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111446	progressive myoclonus epilepsy 3 Aliases: CLN14 disease EPM3 PME type 3 Progressive myoclonic epilepsy due to KCTD7 deficiency Progressive myoclonus epilepsy type 3 neuronal ceroid lipofuscinosis 14	GPATCH1	55094	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080026	otospondylomegaepiphyseal dysplasia, autosomal recessive Aliases: CHONDRODYSTROPHY WITH SENSORINEURAL DEAFNESS NANCE-INSLEY SYNDROME NANCE-SWEENEY CHONDRODYSPLASIA OSMEDB	COL11A2	1302	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050156	idiopathic pulmonary fibrosis Aliases: FIBROCYSTIC PULMONARY DYSPLASIA IDIOPATHIC PULMONARY FIBROSIS, FAMILIAL cryptogenic fibrosing alveolitis	AKT1 APOA1 BRD4 DDR1 EHMT2 EP300 F3 FGFR2 FOSL2 HLA-DRB1 IL1RL1 IL2RA MMP1 MMP3 MUC1 MUC5B NTRK2 PARP1 PTGS2 SETD2 SFTPA2 SMAD6 STAT3 TERT TFPI THBD TNF	10919 142 2033 207 2152 2263 23476 2355 29072 3123 335 3559 4091 4312 4314 4582 4915 5743 6774 7015 7035 7056 7124 727897 729238 780 9173	Homo sapiens (human)	Alliance of Genome Resources
DOID:1459	hypothyroidism Aliases: Thyroid deficiency Thyroid insufficiency	ADRB2 ANXA1 ANXA2 ANXA5 APOA5 APOC3 APOE AQP3 ARSA BAD BDNF CAT COL1A2 COL2A1 CS CYP19A1 DPYSL2 DUOX1 DUOX2 ENTPD1 F7 GPX1 GRK3 GSN HLA-DQB1 HLA-DRB1 HSD3B1 IFNG IGFBP2 IL10 IL4 L1CAM LIPC MAP1A MAP1B MBP MSTN MYH7 NCAM1 NCOA1 NCOR1 ND3 NEFH NEFL NEFM NGF NOS2 NOS3 NR1D1 PAM PCNA PCSK1 PHKA1 PITX2 PLOD1 PLOD2 PLOD3 PNPLA3 RELN SERPINA7 SHH SLC26A5 SLC2A1 SLC34A1 SLC9A1 SOD1 SOD2 SRD5A1 TG THBD THRA TSHB UCP2 UCP3 WNT3A	116519 1278 1280 1431 154 157 1588 1808 2155 2660 2876 2934 301 302 308 3119 3123 3283 345 3458 348 3485 3565 3586 360 375611 3897 3990 410 4130 4131 4155 4537 4625 4684 4741 4744 4747 4803 4843 4846 50506 5066 5111 5122 5255 5308 5351 5352 53905 5649 572 627 6469 6513 6548 6569 6647 6648 6715 6906 7038 7056 7067 7252 7351 7352 80339 847 8648 89780 8985 953 9572 9611	Homo sapiens (human)	Alliance of Genome Resources
DOID:13366	Stiff-Person syndrome Aliases: Stiff-man syndrome stiff man syndrome	HSD17B4 TRAK1	22906 3295	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050865	tongue squamous cell carcinoma	ADIPOQ BIRC2 BRINP3 ERBB3 ERBB4 FANCB FANCG FANCM FOS FOSB FOSL2 FUBP1 HGF IFNG IL10 IL1RL1 IL2 JAK3 JUN JUNB JUND MAP2K4 MET MMP9 SLC1A5 SLC3A2 SLC7A11 SLC7A5 SOX2 TP53	2065 2066 2187 2189 2353 2354 2355 23657 3082 329 339479 3458 3558 3586 3718 3725 3726 3727 4233 4318 57697 6416 6510 6520 6657 7157 8140 8880 9173 9370	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060074	ductal carcinoma in situ	AKR1C3 ANXA1 AR AREG BRCA1 BRCA2 CASP6 ERBB2 ERBB3 ERBB4 FLT1 HIF1A KLK10 MMP2 MMP9 NOTCH4 PAK2 PGR PRKCA PTGES PTGS2 PTK2 RB1 RELA SOCS3 SRC ST14 STAT5A TERT TFF1 TOP2A TP53 TYMP VEGFA	1890 2064 2065 2066 2321 301 3091 367 374 4313 4318 4855 5062 5241 5578 5655 5743 5747 5925 5970 6714 672 675 6768 6776 7015 7031 7153 7157 7422 839 8644 9021 9536	Homo sapiens (human)	Alliance of Genome Resources
DOID:8577	ulcerative colitis Aliases: Left-sided ulcerative colitis	ABCB1 ACSM3 ADIPOQ ADRB2 ALOX12 ALPI APOA4 BRINP3 BTNL2 CCL7 CCR3 CD40 CHRNA7 COL18A1 COL1A1 COL6A3 CXCR3 CXCR4 CYP24A1 DUOX2 EPHB2 F2 FAS FASLG FCGR2A FGF7 GC GPX1 GPX2 HLA-DQB1 HSPA4 ICAM1 IGF1R IGF2 IL10 IL1RN IL23R KDR MMP1 MUC2 PON1 PON3 PTGER4 PTGS1 PTGS2 RHOA RHOB RHOC SELL SELP SLC11A1 STAT3 THBD TNF TNFAIP3 VEGFA VIPR1	1139 1232 1277 1293 149233 154 1591 2048 2147 2212 2252 239 248 2638 2833 2876 2877 3119 3308 337 3383 339479 3480 3481 355 3557 356 3586 3791 387 388 389 4312 4583 50506 5243 5444 5446 56244 5734 5742 5743 6296 6354 6402 6403 6556 6774 7056 7124 7128 7422 7433 7852 80781 9370 958	Homo sapiens (human)	Alliance of Genome Resources

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