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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 **9051 - 9075** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼	Source
DOID:0080432	developmental and epileptic encephalopathy 60 Aliases: DEE60 early infantile epileptic encephalopathy 60	CNPY3	10695	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111140	IGSF1 deficiency syndrome Aliases: CHTE X-linked central congenital hypothyroidism with late-onset macroorchidism X-linked central congenital hypothyroidism with late-onset testicular enlargement central hypothyroidism and testicular enlargement	IGSF1	3547	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111453	2-aminoadipic 2-oxoadipic aciduria Aliases: AMOXAD alpha-aminoadipic aciduria	DHTKD1	55526	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060713	autosomal recessive congenital ichthyosis 4B Aliases: ARCI4B harlequin ichthyosis harlequin type ichthyosis congenita harlequin type ichthyosis fetalis	ABCA12 CST6 PIGA PRSS8	1474 26154 5277 5652	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060669	cerebral cavernous malformation Aliases: cavernous angiomatous malformations cerebral capillary malformations familial cavernous angioma	CCM2 CDC42 CDC42BPA CDC42BPB CDC42BPG FLT1 KDR PIK3CA PON1 PTEN RNF213 STK24	2321 3791 5290 5444 55561 5728 57674 83605 8428 8476 9578 998	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081203	autosomal recessive intellectual developmental disorder 38	HERC2	8924	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111403	mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations Aliases: MCCCHCM	MAST1	22983	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111902	thrombophilia due to activated protein C resistance Aliases: APC resistance PCCF deficiency PROC cofactor deficiency THPH2 activated protein C resistance thrombophilia V thrombophilia due to deficiency of activated protein C cofactor	F5 PROC	2153 5624	Homo sapiens (human)	Alliance of Genome Resources
DOID:3883	Lynch syndrome Aliases: COCA 1 HNPCC - hereditary nonpolyposis colon cancer 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 CA12 CA9 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 768 771 8635 92	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060050	autoimmune disease of blood	C1GALT1	56913	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112307	sarcosinemia Aliases: SARCOS SARD deficiency SARDH deficiency demethylation defect of N-methylglycine sarcosine dehydrogenase complex deficiency	SARDH	1757	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050461	aspartylglucosaminuria Aliases: aspartylglucosaminidase deficiency aspartylglycosaminuria glycosylasparaginase deficiency	AGA	175	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:1389	polyneuropathy	APOA4 FCGR3A HLA-DRB1 IL6 SERPINE1 SOD2 SOD3	2214 3123 337 3569 5054 6648 6649	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080096	myofibrillar myopathy 5 Aliases: filaminopathy	FLNA FLNB FLNC	2316 2317 2318	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110344	osteogenesis imperfecta type 5 Aliases: OI5 osteogenesis imperfecta type V	SUCO	51430	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070286	primary autosomal recessive microcephaly 3 Aliases: MCPH3	CDK5RAP2	55755	Homo sapiens (human)	Alliance of Genome Resources
DOID:1725	peritoneum cancer	GP1BA PRG2	2811 5553	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110862	congenital stationary night blindness autosomal dominant 1 Aliases: CSNBAD1 rhodopsin-related congenital stationary night blindness	RHO	6010	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111903	thrombophilia due to HRG deficiency Aliases: THPH11 hereditary thrombophilia due to congenital HRG deficiency hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency	HRG	3273	Homo sapiens (human)	Alliance of Genome Resources
DOID:3209	junctional epidermolysis bullosa Aliases: congenital junctional epidermolysis bullosa	COL17A1 ITGA3 ITGA6 ITGB4 LAMA3 LAMB3 LAMC2	1308 3655 3675 3691 3909 3914 3918	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070526	PLACK syndrome Aliases: peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads	CAST	831	Homo sapiens (human)	Alliance of Genome Resources
DOID:10283	prostate cancer Aliases: NGP - new growth of prostate hereditary prostate cancer malignant tumor of the prostate prostate cancer, familial prostate neoplasm prostatic cancer prostatic neoplasm tumor of the prostate	ACP3 ACSL3 AFP AGAP2 AGER AKR1C3 AKT1 AKT2 AKT3 ALOX12 ANXA7 APC AR ATF3 AZGP1 BAX BMP2 BMP6 BMP7 BRCA1 BRCA2 CADM1 CBX5 CCNE2 CD44 CD55 CD82 CDC25A CDC25B CDH13 CDH1 CDK13 CHAF1B CHD1 CHD2 CHEK2 CHGA CHUK COMT CTNNA1 CTNNB1 CXCR4 CYP17A1 CYP1A1 CYP51A1 DAXX DNMT1 E2F1 E2F2 EEF2 EGFR EIF3H ELAC2 ENG ENO2 EP300 EPHB1 ERBB2 ERBB3 ERBB4 ESR1 EZH2 FABP5 FAS FGF7 FGFR1 FGFR2 FGFR4 FLT3 FOXO1 FOXO3 GOLM1 GRB2 GRP HDLBP HIF1A HLA-DRB1 HNRNPK HRAS ICAM1 IGF1R IGFBP3 IKBKB IL16 INHA INS JAK1 JUP KDM3A KDM4C KDM5B KDM6A KLK10 KLK13 KLK4 KLK6 KMT2A KMT2B KMT2C KMT2D KMT2E KRAS LEF1 MAGT1 MAP3K7 MAPK7 MEP1A MEP1B MMP13 MMP15 MMP2 MSH2 MSR1 MTOR MUC1 MXI1 MYC MYO6 NBN NCOA1 NCOA2 NCOA3 NCOA4 NFKB1 NOS3 NRAS OGG1 P4HA3 PDGFRB PDPK1 PEBP1 PHF8 PHLPP1 PIK3CB PLAU PNLIPRP1 POLE PON1 PREX1 PRPF8 PTEN PTGS2 PTK2 RAF1 RB1 RBL2 RNASEL SETD5 SETDB1 SIRT1 SKP2 SLCO1B3 SMARCA2 SMARCA4 SNRPE SOS1 SRC SRD5A1 SRD5A2 SREBF2 STAT3 STAT5A STAT6 SULT2A1 TCF3 TERT TFF1 TFF2 TFRC TGFB1 TGFBR2 THBS1 TIMP3 TLR2 TMEFF2 TNF TOP2A TP53 TUSC3 VDAC1 VEGFA WIF1 WNT2 XIAP XRCC1 ZFHX3	10000 1012 10499 10594 10765 1105 1106 1113 11197 11200 1147 116986 1312 1495 1499 1543 1586 1595 1604 1616 174 177 1786 1869 1870 1938 1956 2022 2026 2033 2047 2064 2065 2066 207 208 2099 2146 2171 2181 2252 2260 2263 2264 2308 23081 2309 23133 2322 23239 23411 23468 23671 23705 239 2475 26085 28234 283208 2885 2922 3069 3091 310 3123 3190 324 3265 331 3383 3480 3486 355 3551 3603 3623 3630 367 3716 3728 3732 3845 4224 4225 4297 4313 4322 4324 4436 4481 4582 4601 4609 463 4646 467 4683 4790 4846 4893 4968 5037 51176 51280 5159 5170 5291 5328 5407 5426 5444 55 55209 55818 55904 5598 563 5653 5655 5728 5743 5747 57580 581 58508 5894 5925 5934 6041 60528 650 6502 654 655 6595 6597 6635 6654 6714 6715 6716 672 6721 675 6774 6776 6778 6822 6885 6929 7015 7031 7032 7037 7040 7048 7057 7078 7097 7124 7153 7157 7403 7416 7422 7472 7515 7852 7991 8031 8085 8202 8208 84061 8621 8644 8648 8667 9134 960 9622 9757 9869 993 994 999	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070128	congenital nongoitrous hypothyroidism 6 Aliases: CHNG6	THRA	7067	Homo sapiens (human)	Alliance of Genome Resources
DOID:10024	migraine with aura Aliases: classic migraine	ATP1A2 CACNA1A DBH DRD2	1621 1813 477 773	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111807	syndromic microphthalmia 9 Aliases: Matthew-Wood syndrome anophthalmia-pulmonary hypoplasia syndrome anophthalmia/microphthalmia and pulmonary hypoplasia clinical anophthalmia mild facial dysmorphism lung heart and diaphragm malformations pulmonary agenesis microphthalmi and diaphragmatic defect spear syndrome	STRA6	64220	Homo sapiens (human)	Alliance of Genome Resources

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