GlyCosmos Portal

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

Displaying entries **12776 - 12800** of **15957** in total

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Disease ID	Disease Name	Gene Symbol ▼	Gene ID	Organism	Source
DOID:0111957	immunodeficiency 11A Aliases: CARD11 deficiency IMD11A SCID due to CARD11 deficiency severe combined immunodeficiency due to CARD11 deficiency	CARD11	84433	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111958	immunodeficiency 11B Aliases: IMD11B atopic dermatitis, elevated IgE, and eosinophilia immunodeficiency 11B with atopic dermatitis	CARD11	84433	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050745	diffuse large B-cell lymphoma Aliases: DLBCL	CARD11 CD22 CD40 CD79B DICER1 EZH2 FCGR2A ICAM1 IL21R IRF4 MKI67 MYD88 PRDM1 SMURF2 TP53	2146 2212 23405 3383 3662 4288 4615 50615 639 64750 7157 84433 933 958 974	Homo sapiens (human)	Alliance of Genome Resources
DOID:674	cleft palate Aliases: Palatoschisis	CAPZB CDC42 COL11A2 COL2A1 COLEC11 FLNB GDF6 GOLGB1 MTHFD1 NECTIN1 ROR2 SDC2 SPECC1L UFD1	1280 1302 2317 23384 2804 392255 4522 4920 5818 6383 7353 78989 832 998	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110275	autosomal recessive limb-girdle muscular dystrophy type 2A Aliases: LGMD2A Leyden-Moebius muscular dystrophy limb-girdle muscular dystrophy due to calpain deficiency muscular dystrophy, limb-girdle, type 2A pelvofemoral muscular dystrophy primary calpainopathy	CAPN3	825	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110273	autosomal dominant limb-girdle muscular dystrophy	CAPN3	825	Homo sapiens (human)	Alliance of Genome Resources
DOID:9884	muscular dystrophy	CAPN3 CHKB COL6A1 COL6A3 DAG1 DMD FKRP FKTN LAMA1 LAMA2 LMNA LMNB1 LMNB2 POMGNT1 POMT1 POMT2 POPDC3 SGCA SGCB SGCD SGCG SGCZ SNTB2 SYNE1 TNF TRIM63 UTRN	10585 1120 1291 1293 137868 1605 1756 2218 23345 284217 29954 3908 4000 4001 55624 64208 6442 6443 6444 6445 6645 7124 7402 79147 825 84676 84823	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110821	hereditary spastic paraplegia 76 Aliases: SPG76 autosomal recessive spastic paraplegia 76	CAPN1 CAPN3	823 825	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070302	multiple epiphyseal dysplasia 7 Aliases: EDM7	CANT1	124583	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060462	Desbuquois dysplasia Aliases: Desbuquois syndrome micromelic dwarfism with vertebral and metaphyseal abnormalities and advanced carpotarsal ossification	CANT1 XYLT1	124583 64131	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050998	nonprogressive cerebellar ataxia with mental retardation	CAMTA1	23261	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060858	hypotonia-cystinuria syndrome Aliases: cystinuria with mitochondrial disease	CAMKMT	79823	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080230	autosomal dominant intellectual developmental disorder 54 Aliases: autosomal dominant mental retardation 54	CAMK2B	816	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081224	autosomal recessive intellectual developmental disorder 63	CAMK2A	815	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080228	autosomal dominant intellectual developmental disorder 53 Aliases: autosomal dominant mental retardation 53	CAMK2A	815	Homo sapiens (human)	Alliance of Genome Resources
DOID:169	neuroendocrine tumor Aliases: neuroendocrine neoplasm	CALR DAXX	1616 811	Homo sapiens (human)	Alliance of Genome Resources
DOID:1520	colon carcinoma Aliases: Colonic carcinoma carcinoma of colon	CALR CRKL EFNB2 FLT3LG FOXA1 HLA-DQA1 IGF2R KMT2D PRF1 SLCO1B3 SRC TGFB1 TGFB2 TLR3 TNFRSF17 TNFRSF1A TNFRSF1B TYMS UBA52 VEGFA	1399 1948 2323 28234 3117 3169 3482 5551 608 6714 7040 7042 7098 7132 7133 7298 7311 7422 8085 811	Homo sapiens (human)	Alliance of Genome Resources
DOID:2228	thrombocytosis Aliases: Thrombocythaemia	CALR CPB2 MPL THPO	1361 4352 7066 811	Homo sapiens (human)	Alliance of Genome Resources
DOID:2224	essential thrombocythemia Aliases: Essential thrombocythaemia familial thrombocytosis hemorrhagic thrombocythemia hereditary thrombocythemia primary Thrombocytosis	CALR CD36 CD40LG ELANE MPL THPO VCAM1 VWF	1991 4352 7066 7412 7450 811 948 959	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050731	vitamin B12 deficiency Aliases: cobalamin deficiency hypocobalaminemia	CALR CBS CD40LG CFL1 FUT2 GPX3 MTR PON1	1072 2524 2878 4548 5444 811 875 959	Homo sapiens (human)	Alliance of Genome Resources
DOID:76	stomach disease Aliases: Gastropathy stomach disorder	CALCA HLA-DQB1 MUC5AC PTEN	3119 4586 5728 796	Homo sapiens (human)	Alliance of Genome Resources
DOID:768	retinoblastoma Aliases: RB RB - Retinoblastoma neuroblastoma of Retina	CADM2 FAS IFNB1 KDM1B MGMT MTR RB1 SERPINF1 SNCG	221656 253559 3456 355 4255 4548 5176 5925 6623	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080419	developmental and epileptic encephalopathy 50 Aliases: CDG syndrome type Iz CDG-Iz Carbohydrate deficient glycoprotein syndrome type Iz Congenital disorder of glycosylation type 1z DEE50 early infantile epileptic encephalopathy 50	CAD	790	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050833	orotic aciduria	CAD UMPS	7372 790	Homo sapiens (human)	Alliance of Genome Resources
DOID:9280	carbamoyl phosphate synthetase I deficiency disease Aliases: CPS I deficiency	CAD CPS1	1373 790	Homo sapiens (human)	Alliance of Genome Resources

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