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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 **6801 - 6825** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲	Source
DOID:0070033	autosomal dominant intellectual developmental disorder 3 Aliases: MRD3 autosomal dominant mental retardation 3 autosomal dominant non-syndromic intellectual disability 3	CDH15	1013	Homo sapiens (human)	Alliance of Genome Resources
DOID:13452	scleritis	TNF	7124	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110849	xeroderma pigmentosum group G Aliases: XP group G XP7 XPG xeroderma pigmentosum VII	ERCC5	2073	Homo sapiens (human)	Alliance of Genome Resources
DOID:1555	urticaria	ADRB2 BDNF CCR2 CCR3 CCR5 F2 HLA-DRB1 NGFR SOD2	1232 1234 154 2147 3123 4804 627 6648 729230	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060875	isolated growth hormone deficiency type III Aliases: Fleisher syndrome IGHD III X-linked IGHD X-linked agammaglobulinemia and isolated growth hormone deficiency X-linked hypogammaglobulinemia and isolated growth hormone deficiency X-linked isolated growth hormone deficiency congenital IGHD type III congenital isolated GH deficiency type III congenital isolated growth hormone deficiency type III growth hormone deficiency with hypogammaglobulinemia	BTK	695	Homo sapiens (human)	Alliance of Genome Resources
DOID:14687	diastrophic dysplasia	SLC26A2	1836	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0050158	desquamative interstitial pneumonia Aliases: RBILD familial desquamative interstitial pneumonitis respiratory bronchiolitis-associated interstitial lung disease	SFTPC	6440	Homo sapiens (human)	Alliance of Genome Resources
DOID:11759	hypochromic anemia Aliases: ANEMIA HYPOCHROMIC	SLC11A2	4891	Homo sapiens (human)	Alliance of Genome Resources
DOID:9273	citrullinemia Aliases: ASS deficiency deficiency of citrulline-aspartate ligase	ASS1 SLC25A12 SLC25A13	10165 445 8604	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080070	mucolipidosis II alpha/beta Aliases: I-cell disease inclusion-cell disease mucolipidosis II	GNPTAB	79158	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:1852	intrahepatic cholestasis Aliases: neonatal intrahepatic cholestasis	ABCB11 ABCB4 ENTPD1 HSD3B7 SLC22A1 SLC22A2 SLC25A12 SLC25A13	10165 5244 6580 6582 80270 8604 8647 953	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050770	polycystic liver disease Aliases: congenital cystic liver disease congenital hepatic cyst fibrocystic liver disease	GANAB PKD1 PRKCSH SEC63 UCP2	11231 23193 5310 5589 7351	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111370	apolipoprotein C-III deficiency Aliases: HALP2 hyperalphalipoproteinemia 2	APOC3	345	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111345	transient bullous dermolysis of the newborn Aliases: DEB, bullous dermolysis of the newborn DEB-BDN	COL7A1	1294	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112347	hereditary spastic paraplegia 84 Aliases: SPG84 spastic paraplegia 84 autosomal recessive	PI4KA	5297	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112306	Mahvash Disease Aliases: GCGR-related hyperglucagonemia nesidioblastosis, alpha cell hyperplasia, microglucagonoma, and nonfunctioning islet cell tumor	GCGR	2642	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110242	cataract 13 with adult i phenotype Aliases: CTRCT13	GCNT2	2651	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081003	Cowden syndrome 7	SEC23B	10483	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070352	stress-induced childhood-onset neurodegeneration with variable ataxia and seizures Aliases: CONDSIAS	ADPRS BPHL PARG	54936 670 8505	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070514	neurodevelopmental disorder with dysmorphic facies and distal limb anomalies Aliases: NEDDFL	BPTF	2186	Homo sapiens (human)	Alliance of Genome Resources
DOID:4450	renal cell carcinoma Aliases: RCC adenocarcinoma of kidney hypernephroma	ABCB1 ABCG2 ADGRB1 AFP AGTR1 AGTR2 AKT1 AKT3 ALOX12 AMACR ANGPT1 ANXA1 ANXA2 APC ARNT BAD BIRC2 BMP4 BMP6 BMP7 BSG BTG2 C4A C4B CA9 CAD CD44 CD46 CDH1 CDKN1B COMT CSF1R CTLA4 CTNNA1 CTNNB1 CYP1A1 DLL4 EGFR EPAS1 ERBB2 ERBB4 FAS FGFR1 FLCN FLT1 FN1 FRS2 FTO HAVCR1 HAVCR2 HIF1A HLA-DRB1 HNF1A IGF1R IGFBP3 IGFBP7 IL1RN IL2 IL4R INSR JUN JUP KANK1 KCNH1 KDM4C KDM6A KDM6B KIT KLK6 KRAS LEP LNPEP LTF MAP2K1 MET MLH1 MMP1 MMP2 MMP3 MMP9 MSH2 MTOR MUC1 MYC NME1 NR3C1 NRP1 OGG1 PAK1 PBRM1 PCNA PDCD1 PDGFRA PDGFRB PDPN PFAS PGF PLAU PLD2 PPAT PTEN PTGS1 PTGS2 RB1 RELA SFRP1 SKP2 SLC49A4 SMAD4 SMARCC1 SPARC ST14 STAT3 TERT TFE3 TFRC TGFB1 THRA TIMP1 TIMP3 TLR9 TNF TNFRSF10A TNFRSF1A TNFRSF1B TP53 TSC2 TYMP VEGFA VEGFC VWF WIF1 WNT11 XIAP XRCC1	10000 1027 10630 10818 11197 1312 1436 1493 1495 1499 1543 174 185 186 1890 1956 201163 2034 2064 2066 207 2260 23081 23135 23189 2321 2335 23600 239 2475 26762 284 2908 301 302 3091 3123 324 329 331 3480 3486 3490 355 3557 3558 3566 3643 3725 3728 3756 3815 3845 3952 4012 405 4057 4089 4179 4233 4292 4312 4313 4314 4318 4436 4582 4609 4830 4968 5058 5111 5133 5156 5159 5198 5228 5243 5328 5338 54106 54567 5471 55193 5604 5653 572 5728 5742 5743 575 5925 5970 6422 6502 652 654 655 6599 6678 6768 6774 682 6927 7015 7030 7037 7040 7067 7076 7078 7124 7132 7133 7157 720 721 7249 7403 7422 7424 7450 7481 7515 768 7832 790 79068 84868 84925 8797 8829 9429 960 999	Homo sapiens (human)	Alliance of Genome Resources
DOID:2340	craniosynostosis Aliases: Premature closure of cranial sutures	ALX4 BBS9 FGFR2 FGFR3 FLNA NELL1 NOG SKI TCF12 TWIST1	2261 2263 2316 27241 4745 60529 6497 6938 7291 9241	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:0080572	congenital disorder of glycosylation Iw Aliases: congenital disorder of glycosylation 1w	STT3A STT3B	201595 3703	Homo sapiens (human)	Alliance of Genome Resources
DOID:557	kidney disease Aliases: impaired renal function disease nephropathy	ABCC3 ADRB2 AMN APOL1 APOL3 BMP7 CASP9 CCL2 CCL5 CDC42 COL4A1 CTLA4 CUBN F7 FGR G6PD GBA3 HAVCR1 HCK HNF1A KAT2A KAT2B KIRREL1 KIRREL2 KL KLB LCN2 LCT LCTL LIPC MIF MKI67 MLXIPL MMP9 MYH9 NFATC1 NPHS1 PALS1 PPP3CA RAC1 RAC2 RAC3 RAMP2 RELB SRC SREBF1 SREBF2 STOM TGFBI TGFBR1 TGFBR2 TNF TNFRSF1A TRPC6 UMOD VPS33B XYLT1	10266 1282 1493 152831 154 197021 2040 2155 2268 2539 26276 2648 26762 3055 3934 3938 3990 4282 4288 4318 4627 4772 4868 51085 55243 5530 57733 5879 5880 5881 5971 6347 6352 64131 64398 655 6714 6720 6721 6927 7045 7046 7048 7124 7132 7225 7369 8029 80833 81693 84063 842 8542 8714 8850 9365 998	Homo sapiens (human)	Alliance of Genome Resources

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