GlyCosmos Portal

Source	Last Updated
Alliance of Genome Resources	October 9, 2024
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **9976 - 10000** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼	Source
DOID:0081157	dilated cardiomyopathy 1LL	PRDM16	63976	Homo sapiens (human)	Alliance of Genome Resources
DOID:1245	vulva cancer Aliases: Ca vulva Vulvar tumor malignant Vulvar tumor malignant neoplasm of vulva malignant tumor of vulva neoplasm of vulva vulval cancer vulval neoplasm vulvar neoplasm	AKT1 HLA-A HLA-DQB1 HLA-DRB1 MMP13 NOS3	207 3105 3119 3123 4322 4846	Homo sapiens (human)	Alliance of Genome Resources
DOID:10534	stomach cancer Aliases: gastric cancer gastric neoplasm	ABL1 ACE ACVR1B ADAR ADGRB1 ADM AKR1B1 ANXA1 APC ARID1A ARPC1B ASPM ATM ATP4B BAMBI BAX BCOR BGN BRCA1 BST2 CALR CASP9 CCL5 CCN3 CD1D CD274 CD8A CDK12 CES1 CHRNA3 COL6A3 CSF1R CTNNB1 CUX1 CXCR4 CYP1A1 CYP2E1 DAXX DDR2 DICER1 DOCK6 EEF1E1 EEF2 EFNB1 EFNB2 EPHB1 ERBB2 ERCC5 ERCC6 EZH2 FGFR2 FGFR4 FOXA1 FOXM1 FUBP1 FUT11 GDA GLDC GPX1 GPX3 GSE1 HDAC2 HLA-DQA1 IDH2 IGFBP3 IL10 IL1RN IL5 IL6 IL6R IL6ST IL7R JAK1 KDM6A KDR KIF18A KMT2C KMT2D KRAS LRP1B LRRN1 MAP3K1 MAP4K4 MKI67 MMP9 MUTYH NBEA NCOA2 NFKB1 NTRK3 NUF2 PARP1 PCNA PDCD1 PIK3CA PTCH1 PTEN PTPN11 RAC1 RGN RICTOR RNF43 RUNX1 RUNX3 SETD2 SGCE SHH SLC7A5 SMO SOD2 SPOP SRC STAT3 STIM1 TBX3 TEP1 TERT TET2 TFF1 TMEM260 TNFRSF11A TP53 TTR UBR5 XPO1 XRCC1	10095 103 10499 1066 1136 1293 133 142 1436 1499 1523 1543 1571 1616 1636 170384 1938 1947 1948 2047 2064 2073 2074 2146 2263 2264 2305 231 23199 23405 25 253260 25805 259266 26960 2731 2876 2878 29072 29126 301 3066 3117 3169 324 3418 3486 3557 3567 3569 3570 3572 3575 3586 3716 3791 3845 4214 4288 4318 4595 472 4790 4856 4916 4921 496 5111 5133 51366 51755 5290 53353 54790 54880 54894 54916 5727 5728 575 57572 57633 5781 581 58508 5879 633 6352 6469 6608 6648 6714 672 6774 6786 684 6926 7011 7015 7031 7157 7276 7403 7514 7515 7852 8085 811 8140 81930 8289 83540 8405 842 861 864 8792 8880 8910 91 9104 912 925 9448 9521 9615	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110953	Waardenburg syndrome type 4A Aliases: WS4A Waardenburg syndrome type IVA Waardenburg syndrome with Hirschsprung disease type 4A	EDNRB	1910	Homo sapiens (human)	Alliance of Genome Resources
DOID:3450	cutaneous Paget's disease Aliases: Paget's disease of skin cutaneous Paget disease extramammary Paget's disease	PIK3CA	5290	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111625	ventriculomegaly - cystic kidney disease Aliases: VMCKD congenital nephrosis-cerebral ventriculomegaly syndrome cystic kidney disease with ventriculomegaly ventriculomegaly with cystic kidney disease	CRB2	286204	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060708	lymphoproliferative syndrome 2 Aliases: CD27 deficiency LPFS2	CD27	939	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070379	developmental and epileptic encephalopathy 6B Aliases: DEE6B	SCN1A	6323	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110180	Charcot-Marie-Tooth disease axonal type 2CC Aliases: CMT2CC Charcot-Marie-Tooth neuropathy type 2CC	NEFH	4744	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070374	leukoencephalopathy with vanishing white matter 1	EIF2B1	1967	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060686	autosomal dominant nocturnal frontal lobe epilepsy 5 Aliases: ENFL5 nocturnal frontal lobe epilepsy 5	KCNT1	57582	Homo sapiens (human)	Alliance of Genome Resources
DOID:8454	riboflavin deficiency Aliases: ariboflavinosis vitamin B2 deficiency	SLC52A1	55065	Homo sapiens (human)	Alliance of Genome Resources
DOID:5773	oral submucous fibrosis Aliases: Oral cavity Submucous Fibrosis Oral submucosal fibrosis Oral submucosal fibrosis, including of tongue	CYP3A5 TGFB1 TP53	1577 7040 7157	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110703	hypotrichosis 6 Aliases: Hypotrichosis, Localized, Autosomal Recessive 1 Hypt6 Lah1 Monilethrix-like hypotrichosis autosomal recessive localized hypotrichosis	DSG4	147409	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110895	inflammatory bowel disease 14 Aliases: IBD14	IRF5	3663	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080960	amelogenesis imperfecta type 2A6 Aliases: Amelogenesis imperfecta, hypomaturation type, IIA6	GPR68	8111	Homo sapiens (human)	Alliance of Genome Resources
DOID:3390	palmoplantar keratosis Aliases: Keratosis palmaris et plantaris Palmoplantar Keratoderma palmo-plantar keratodermas	JUP	3728	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:11212	hydrophthalmos	CYP1B1	1545	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080265	nephrotic syndrome type 14	SGPL1	8879	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070143	autosomal recessive cutis laxa type III Aliases: De Barsy syndrome cutis laxa-corneal clouding-intellectual disability syndrome	ALDH18A1	5832	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070051	autosomal dominant intellectual developmental disorder 21 Aliases: MRD21 autosomal dominant mental retardation 21 autosomal dominant non-syndromic intellectual disability 21	CTCF	10664	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111243	acromicric dysplasia Aliases: ACMICD acromicric skeletal dysplasia	FBN1	2200	Homo sapiens (human)	Alliance of Genome Resources
DOID:10923	sickle cell anemia Aliases: Hb SC disease Hb-S/Hb-C disease Hb-SS disease without crisis Hemoglobin S disease without crisis Sickle-cell/Hb-C disease without crisis drepanocytosis haemoglobin SC disease hemoglobin SC disease sickle cell anaemia	APOB BCL11A C3 CD36 CD40LG CFB CYP2C19 F2 F3 GPX1 HBB HK1 HLA-DQB1 NOS3 NPPB PECAM1 PGF PON1 SPTA1 TGFB1 TNF	1557 2147 2152 2876 3043 3098 3119 338 4846 4879 5175 5228 53335 5444 629 6708 7040 7124 718 948 959	Homo sapiens (human)	Alliance of Genome Resources
DOID:2537	inflammatory and toxic neuropathy	HTR2A	3356	Homo sapiens (human)	Alliance of Genome Resources

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