GlyCosmos Portal

Source	Last Updated
Alliance of Genome Resources	January 28, 2025
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **301 - 325** of **5716** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▲	Organism	Source
DOID:13270	erythropoietic protoporphyria Aliases: EPP Protoporphyria	CLPX	10845	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060998	striatal degeneration 2	PDE10A	10846	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111358	Floating-Harbor syndrome Aliases: FLHS	SRCAP	10847	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080652	calcium oxalate nephrolithiasis	CASR FN1 IL1RN OXGR1 SLC26A1	10861 2335 27199 3557 846	Homo sapiens (human)	Alliance of Genome Resources
DOID:3910	lung adenocarcinoma Aliases: bronchogenic lung adenocarcinoma nonsmall cell adenocarcinoma	ADAM28 ALX4 CALR CHD4 CHRNA3 CHRNA5 CHRNB4 CLPTM1L CYP24A1 EGF EGFR ERBB2 ERBB3 ERBB4 ESCO2 FGFR4 KMT2C KRAS LRP1B MAP4K4 MIER3 MSH2 MYC PRDM1 PTCH1 PTPN13 PTPRJ RARB RBM10 RNF43 SETD2 SPOP TERT UBR5 XRCC1 ZFHX3	10863 1108 1136 1138 1143 157570 1591 166968 1950 1956 2064 2065 2066 2264 29072 3845 4436 4609 463 51366 53353 54894 5727 5783 5795 58508 5915 60529 639 7015 7515 81037 811 8241 8405 9448	Homo sapiens (human)	Alliance of Genome Resources
DOID:3008	invasive ductal carcinoma Aliases: Infiltrating ductal carcinoma of breast Invasive ductal carcinoma, NST ductal adenocarcinoma	ABCB1 ADAM28 AKT1 DLG1 NEFL RUNX3 UBR5 XRCC1	10863 1739 207 4747 51366 5243 7515 864	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060075	estrogen-receptor positive breast cancer	ADAM28 PIK3CA	10863 5290	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080301	atypical hemolytic-uremic syndrome	C3 CD46 CFB CFH CFHR1 CFHR3 CFI THBD	10878 3075 3078 3426 4179 629 7056 718	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110014	age related macular degeneration 1 Aliases: ARMD1 age related maculopathy 1	APOE CFHR1 CFHR3 HMCN1	10878 3078 348 83872	Homo sapiens (human)	Alliance of Genome Resources
DOID:3969	papillary thyroid carcinoma Aliases: Papillary carcinoma of the Thyroid gland Papillary carcinoma of thyroid thyroid gland papillary carcinoma	ATM HABP2 HRAS KMT2D MINPP1 NKX2-1 NRAS SRGAP1 TP53 WDR3 XRCC1	10885 3026 3265 472 4893 57522 7080 7157 7515 8085 9562	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050588	muscular dystrophy-dystroglycanopathy type B1 Aliases: CMD due to dystroglycanopathy Muscular dystrophy-dystroglycanopathy congenital with impaired intellectual development B1	B4gat1 Fkrp Fktn Large1 Pomgnt1 Pomt1	108902 16795 243853 246179 68273 99011	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080208	metabolic dysfunction-associated steatotic liver disease Aliases: MAFLD MASLD NAFLD metabolic dysfunction-associated fatty liver disease metabolic dysfunction-related steatotic liver disease metabolic-associated fatty liver disease non-alcoholic fatty liver disease nonalcoholic fatty liver disease	ABCC2 ADIPOQ ADRB3 AKT1 ALDH2 CCR2 DGAT2 HFE IL6 LEPR PNPLA3 PPARGC1A SAMM50 SOD2 TG	10891 1244 155 207 217 25813 3077 3569 3953 6648 7038 729230 80339 84649 9370	Homo sapiens (human)	Alliance of Genome Resources
DOID:1287	cardiovascular system disease Aliases: disease of subdivision of hemolymphoid system	ADIPOQ AGER CFH ENPP1 FGB FTO GIPR GPX1 GYS1 LIPG MPO PPARG PPARGC1A PTGS2 TLR9 UBR1	10891 177 197131 2244 2696 2876 2997 3075 4353 5167 54106 5468 5743 79068 9370 9388	Homo sapiens (human)	Alliance of Genome Resources
DOID:12858	Huntington's disease Aliases: HD Huntington disease Huntington's chorea	ABAT BDNF EIF2AK2 GLUL GRIK2 GRIN2A GRIN2B HSF1 HTT IL6 IL6R NOG NPY2R NRF1 PPARGC1A PRKAA1 SIRT1 TFAM	10891 18 23411 2752 2898 2903 2904 3064 3297 3569 3570 4887 4899 5562 5610 627 7019 9241	Homo sapiens (human)	Alliance of Genome Resources
DOID:4448	macular degeneration Aliases: Macular degeneration of retina	ABCA4 APOE C2 C3 CFB CFH CFI ESR1 IL17A KDR MMP2 NFE2L2 PON1 PPARGC1A PRPH2 SERPING1 TLR4	10891 2099 24 3075 3426 348 3605 3791 4313 4780 5444 5961 629 7099 710 717 718	Homo sapiens (human)	Alliance of Genome Resources
DOID:1907	malignant fibrous histiocytoma Aliases: Fibroxanthosarcoma MFH	PPARGC1A	10891	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060058	lymphoma Aliases: lymphoid cancer	CHD4 MALT1 PAFAH1B2 RELA	10892 1108 5049 5970	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060060	non-Hodgkin lymphoma	CD40 CD79B CTLA4 FCGR2A GPX1 KMT2A MALT1 PON1 PRF1 TMEM260	10892 1493 2212 2876 4297 5444 54916 5551 958 974	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111988	immunodeficiency 12 Aliases: IMD12 combined immunodeficiency due to MALT1 deficiency	MALT1	10892	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110612	primary ciliary dyskinesia 10 Aliases: CILD10 primary ciliary dyskinesia 10 with or without situs inversus	Dnaaf2	109065	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080695	Burn-McKeown syndrome Aliases: Choanal atresia - deafness - cardiac defects - dysmorphism syndrome	TXNL4A	10907	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111265	Boucher-Neuhauser syndrome Aliases: ataxia-hypogonadism-choroidal dystrophy syndrome	PNPLA6	10908	Homo sapiens (human)	Alliance of Genome Resources
DOID:1930	Laurence-Moon syndrome Aliases: LNMS	PNPLA6	10908	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111271	Oliver-McFarlane syndrome Aliases: OMCS eyelashes long mental retardation long eyelashes-intellectual disability syndrome trichomegaly-retina pigmentary degeneration-dwarfism syndrome	PNPLA6	10908	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110790	hereditary spastic paraplegia 39 Aliases: NTE-related motor neuron disorder NTEMND SPG39 autosomal recessive spastic paraplegia 39 autosomal recessive spastic paraplegia type 39 spastic paraplegia due to NTE mutation spastic paraplegia due to neuropathy target esterase mutation	PNPLA6	10908	Homo sapiens (human)	Alliance of Genome Resources

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