GlyCosmos Portal

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Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **3826 - 3850** of **4621** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲
DOID:0110960	Gaucher's disease perinatal lethal Aliases: Fetal Gaucher Disease Gaucher Disease, Collodion Type	GBA1	2629	Homo sapiens (human)
DOID:0111008	X-linked cone-rod dystrophy 1 Aliases: COD1 CORDX1 X-linked cone dystrophy 1	CD48	962	Homo sapiens (human)
DOID:0080162	lupus nephritis	ACE AGA ALG1 CALR CD38 CD44 CD74 CLEC7A CYP2B6 CYP2C19 CYP3A5 ENO1 EPHX2 EXT1 EXT2 FCGR3B FCN1 FCN2 FCN3 HPSE HSPG2 ICAM1 LGALS3 LGALS9 MBL2 OGG1 PGM1 PIK3CA PIK3CB PIK3CD PIK3CG PLA2R1 PTEN PTGDS PTGS1 PTGS2 SDC2 TNF VCAM1 VTCN1	10855 1555 1557 1577 1636 175 2023 2053 2131 2132 2215 2219 2220 22925 3339 3383 3958 3965 4153 4968 5236 5290 5291 5293 5294 56052 5728 5730 5742 5743 6383 64581 7124 7412 79679 811 8547 952 960 972	Homo sapiens (human)
DOID:0080506	Cornelia de Lange syndrome 2	SMC3	9126	Homo sapiens (human)
DOID:6195	conjunctivitis	ART4 CD14 IMPA1 LGALS1 MBL2 PLD3	23646 3612 3956 4153 420 929	Homo sapiens (human)
DOID:1969	cerebral palsy Aliases: infantile cerebral palsy	ACHE ACSM1 ACSM2A ALDH3A2 ALPP ARSA ARSD ATRNL1 CAT CD109 CYP24A1 CYP3A4 EFNA5 GAD1 GCDH GLUL GMDS GPX1 HPRT1 IDH1 IDH2 IDUA MBL2 MECR MRC1 PDHA1 PIK3CA PIK3CB PIK3CD PIK3CG PMM2 PNP PTGS1 PTGS2 RENBP SOAT1 ST3GAL5 TIGAR TKTL1 UGT1A1	116285 123876 135228 1576 1591 1946 224 250 2571 26033 2639 2752 2762 2876 3251 3417 3418 3425 410 414 4153 43 4360 4860 51102 5160 5290 5291 5293 5294 5373 54658 57103 5742 5743 5973 6646 8277 847 8869	Homo sapiens (human)
DOID:12053	cryptococcosis Aliases: Busse-Buschke's disease European cryptococcosis cryptococcal infection torula torulosis	ATP6V0A2 CD44 CHIA CHIT1 CLEC6A CLEC7A CYP51A1 FBP1 FCGR3B HACD1 HK2 ICAM1 LGALS3 MIOX MPI PCK1 PLB1 PRKAA2 SLC35A2 SMUG1 SOAT1 UGGT1 UGT1A10 UGT1A1 UGT1A3 UGT1A4 UGT1A5 UGT1A6 UGT1A7 UGT1A8 UGT1A9	1118 151056 1595 2203 2215 23545 23583 27159 3099 3383 3958 4351 5105 54575 54576 54577 54578 54579 54600 54657 54658 54659 55586 5563 56886 64581 6646 7355 9200 93978 960	Homo sapiens (human)
DOID:0111232	congenital muscular dystrophy-dystroglycanopathy type A9 Aliases: MDDGA9 Walker-Warburg syndrome or muscle-eye-brain disease DAG1-related congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A9	DAG1	1605	Homo sapiens (human)
DOID:0060710	autosomal recessive congenital ichthyosis 2 Aliases: ARCI2 BROCQ congenital ichthyosiform erythroderma nonbullous form NCIE1 nonbullous congenital ichthyosiform erythroderma 1	ALDH3A2 ALOX12B CERS3 COG7 GBA1 STS SULT2B1	204219 224 242 2629 412 6820 91949	Homo sapiens (human)
DOID:2799	bronchiolitis obliterans Aliases: Bronchiolitis exudativa Bronchiolitis fibrosa obliterans Obliterative bronchiolitis	ACE CHI3L1 ICAM1 KLRK1 MBL2 PIK3CD SELE SFTPA1 SFTPD VCAN	1116 1462 1636 22914 3383 4153 5293 6401 6441 653509	Homo sapiens (human)
DOID:10541	microinvasive gastric cancer Aliases: Surface gastric cancer early gastric cancer	ACE CD44 CEACAM5 CEACAM7 FASN L1CAM MDGA2 PTEN PTGS2 SMUG1	1048 1087 161357 1636 2194 23583 3897 5728 5743 960	Homo sapiens (human)
DOID:0050457	Sertoli cell-only syndrome Aliases: DEL CASTILLO SYNDROME Germinal Cell Aplasia	ANXA5 CYP11A1 CYP17A1 CYP19A1 CYP2R1 EPHX2 GAPDH HPGDS HSD3B2 LCT LDHC PARP1 PGAM1 PIK3CA PIK3CB PIK3CD PIK3CG PRPS2 SRD5A2 SRGN STS TEX101	120227 142 1583 1586 1588 2053 2597 27306 308 3284 3938 3948 412 5223 5290 5291 5293 5294 5552 5634 6716 83639	Homo sapiens (human)
DOID:5715	functionless pituitary adenoma Aliases: Non-Functioning neoplasm of the Pituitary Non-Secretory adenoma of the Pituitary gland	HSD11B1 PIK3CA PIK3CB PIK3CD PIK3CG QTRT1	3290 5290 5291 5293 5294 81890	Homo sapiens (human)
DOID:3847	papillary craniopharyngioma Aliases: Papillary Rathke's Pouch tumor craniopharyngioma, papillary	ATP6AP2 CD44 CEL CYP2E1 GAD1 GPX1 HSD11B1 IDH1 LGALS1 NDUFAB1	10159 1056 1571 2571 2876 3290 3417 3956 4706 960	Homo sapiens (human)
DOID:0070230	benign recurrent intrahepatic cholestasis Aliases: BRIC Summerskill-Walshe-Tygstrup syndrome	GGT1	2678	Homo sapiens (human)
DOID:0080307	myofibrillar myopathy	CS PTEN	1431 5728	Homo sapiens (human)
DOID:5998	microglandular adenosis Aliases: Adenosis - breast Adenosis of the breast	ACE CEACAM5 CEACAM7 COMT CRLS1 CYP11A1 CYP17A1 CYP19A1 CYP1A1 CYP1B1 DCN GFRA1 GLA HSD17B1 INPP4B LPCAT1 MICA NCAM1 PTEN PTGS2 SDC3	100507436 1048 1087 1312 1543 1545 1583 1586 1588 1634 1636 2674 2717 3292 4684 54675 5728 5743 79888 8821 9672	Homo sapiens (human)
DOID:0110346	osteogenesis imperfecta type 10 Aliases: OI10 osteogenesis imperfecta type X	ALPL BAAT CD38 CD44 DCN PNPLA2 PTGS2 SMPD3	1634 249 55512 570 57104 5743 952 960	Homo sapiens (human)
DOID:0110506	autosomal recessive nonsyndromic deafness 49 Aliases: DFNB49 autosomal recessive deafness 49	ACO2 ACOX1 ARSA CD109 CHSY1 COG4 LRTOMT OTOA OTOG PSAP TECTA	135228 146183 220074 22856 25839 340990 410 50 51 5660 7007	Homo sapiens (human)
DOID:0110848	xeroderma pigmentosum group F Aliases: XP group F XP6 XPF xeroderma pigmentosum VI	CAT COMT CYP1B1 HPGDS HPRT1 OGG1 PTEN SMUG1 TALDO1 XYLT2	1312 1545 23583 27306 3251 4968 5728 64132 6888 847	Homo sapiens (human)
DOID:9768	heart aneurysm Aliases: cardiac aneurysm	SMUG1	23583	Homo sapiens (human)
DOID:8499	night blindness Aliases: nyctalopia	ARSG CA4 CACNA2D4 COG4 ELOVL4 HADHA HGSNAT HK1 HSD3B7 NYX PCYT1A POMGNT1	138050 22901 25839 3030 3098 5130 55624 60506 6785 762 80270 93589	Homo sapiens (human)
DOID:0112152	CHIME syndrome Aliases: PIGL-CDG Zunich neuroectodermal syndrome Zunich-Kaye syndrome coloboma-congenital heart disease-ichthyosiform dermatosis-intellectual disability-ear anomalies syndrome congenital disorder of glycosylation due to PIGL deficiency neuroectodermal dysplasia, CHIME type neuroectodermal syndrome, Zunich type	PIGL	9487	Homo sapiens (human)
DOID:4183	pseudopseudohypoparathyroidism Aliases: Normocalcemic pseudohypoparathyroidism	APRT ASAH1 GPC1	2817 353 427	Homo sapiens (human)
DOID:0070399	hypomyelinating leukodystrophy 18 Aliases: HLD18	DEGS1	8560	Homo sapiens (human)

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