GlyCosmos Portal

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Displaying entries **1476 - 1500** of **4621** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼
DOID:4658	benign mastocytoma	CD44 CD72 ENPP3 HS2ST1 HSPG2 ICAM1 IDH2 MCAT PLA2G2E	27349 30814 3339 3383 3418 5169 960 9653 971	Homo sapiens (human)
DOID:0110572	autosomal dominant nonsyndromic deafness 49 Aliases: DFNA49 autosomal dominant 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:5117	dermoid cyst of ovary Aliases: Dermoid cyst Ovarian Dermoid Cyst	AKR1C3 CS HPSE NEU1 OPCML PTEN SLC2A3 SLC2A4 TMTC3	10855 1431 160418 4758 4978 5728 6515 6517 8644	Homo sapiens (human)
DOID:0110586	autosomal dominant nonsyndromic deafness 65 Aliases: DFNA65 autosomal dominant deafness 65	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:0080561	congenital disorder of glycosylation Ii Aliases: congenital disorder of glycosylation 1i	ALG2 COG1 COG4 COG8 MAN1B1 SLC39A8	11253 25839 64116 84342 85365 9382	Homo sapiens (human)
DOID:0110163	Charcot-Marie-Tooth disease axonal type 2F Aliases: CMT2F Charcot-Marie-Tooth neuronal type 2F Charcot-Marie-Tooth neuropathy type 2F autosomal dominant Charcot-Marie-Tooth disease type 2F	ACE AMACR ARSA CANX CAT CD44 CYP4F3 DGAT2 FIG4 GBA1 GPX2 HADHB HK1 HPSE LCAT LPIN1 MAG MTM1 MTMR2 PGK1 PGM1 PLCB4 PLCE1 PRNP PRPS1 PTGS2 SIGLEC7 SPTLC1 SPTLC2	10558 10855 1636 23175 23600 2629 27036 2877 3032 3098 3931 4051 4099 410 4534 51196 5230 5236 5332 5621 5631 5743 821 84649 847 8898 9517 960 9896	Homo sapiens (human)
DOID:0110488	autosomal recessive nonsyndromic deafness 3 Aliases: DFNB3 NRSD3 autosomal recessive deafness 3, neurosensory nonsyndromic recessive deafness 3	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:0110500	autosomal recessive nonsyndromic deafness 42 Aliases: DFNB42 autosomal recessive deafness 42	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:12449	aplastic anemia	ALDH2 ATP6AP2 CD48 CD55 CYP1A1 CYP2B6 CYP2E1 DGKZ ECI2 FCGR3B GPI HACD1 HPGDS ICAM1 IMPA1 LGALS9 NCAM1 PAFAH1B1 PIGA PTGDS SMUG1 TNF	10159 10455 1543 1555 1571 1604 217 2215 23583 27306 2821 3383 3612 3965 4684 5048 5277 5730 7124 8525 9200 962	Homo sapiens (human)
DOID:1785	pituitary cancer Aliases: Pituitary gland neoplasm malignant Pituitary neoplasm malignant tumor of pituitary gland neoplasm of pituitary gland pituitary gland cancer pituitary neoplasm	CD44 CDH13 HSD11B2 IDH1 IDH2 LDHA PIK3CA PIK3CB PIK3CD PIK3CG PRKAA2 PTEN PTGS2 SCP2 SMUG1 STS TBXAS1	1012 23583 3291 3417 3418 3939 412 5290 5291 5293 5294 5563 5728 5743 6342 6916 960	Homo sapiens (human)
DOID:12375	bronchopneumonia Aliases: Chest infection - bronchopneumonia bronchial pneumonia lobular pneumonia	MBL2	4153	Homo sapiens (human)
DOID:5463	cochlear disease	TNF	7124	Homo sapiens (human)
DOID:12401	intermittent explosive disorder Aliases: explosive personality disorder	ACE APRT CACNA2D4 COMT DBT DGKH ETNPPL FADS1 G6PD GAD1 GAD2 GPC1 IMPA2 LDHA LMAN2L MCAT MPPE1 PAFAH1B1 PLCD1 PLCG1 SYNJ1	1312 160851 1629 1636 2539 2571 2572 27349 2817 353 3613 3939 3992 5048 5333 5335 64850 65258 81562 8867 93589	Homo sapiens (human)
DOID:10606	blind loop syndrome Aliases: Bacterial overgrowth syndrome	CHI3L1 ICAM1 PLA2G7	1116 3383 7941	Homo sapiens (human)
DOID:1752	ocular melanoma Aliases: eye melanoma intraocular melanoma melanoma of eye	ASAH1 CD177 CYP24A1 CYP27B1 PNPLA2 SDHD	1591 1594 427 57104 57126 6392	Homo sapiens (human)
DOID:452	pleomorphic adenoma Aliases: mixed tumor of the Salivary gland	ALDH3A1 B3GAT1 CD44 FASN HPGDS HPRT1 NANS PIK3CA PTEN PTGS2 STS TM7SF2 XYLT1 XYLT2	218 2194 27087 27306 3251 412 5290 54187 5728 5743 64131 64132 7108 960	Homo sapiens (human)
DOID:0110513	autosomal recessive nonsyndromic deafness 61 Aliases: DFNB61 autosomal recessive deafness 61	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:2649	chondroblastoma Aliases: Chondroblastoma of bone	ACAN EXT1 IDH2 PTGS2	176 2131 3418 5743	Homo sapiens (human)
DOID:9988	tertiary neurosyphilis Aliases: late neurosyphilis	SMUG1	23583	Homo sapiens (human)
DOID:0111182	familial hemiplegic migraine 2 Aliases: FHM2 Familial hemiplegic migraine-2 MHP2	ATP1A2 DPEP1	1800 477	Homo sapiens (human)
DOID:0110433	dilated cardiomyopathy 1E Aliases: CDCD2 CMD1E dilated cardiomyopathy with conduction defect 2 dilated cardiomyopathy with conduction disorder and arrhythmia	ACADVL ACE BDH1 CHKB CPT2 DAG1 DOLK FASN FKRP FKTN GLB1 GPX1 HACD1 HADH HADHA HADHB HJV HMGCL HPRT1 LDHA LGALS3 LPL MDH1 MICA MTM1 NAMPT NCAM1 NDUFAB1 PCYT1A PGM1 PIK3CA PIK3CB PIK3CD PIK3CG PLA2G7 POMT2 RENBP SDHA SDHD SLC2A10 SLC2A4	100507436 10135 1120 1376 148738 1605 1636 2194 2218 22845 2720 2876 29954 3030 3032 3033 3155 3251 37 3939 3958 4023 4190 4534 4684 4706 5130 5236 5290 5291 5293 5294 5973 622 6389 6392 6517 79147 7941 81031 9200	Homo sapiens (human)
DOID:0111681	glutamate-cysteine ligase deficiency Aliases: gamma-glutamylcysteine synthetase deficiency hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency	GCLC	2729	Homo sapiens (human)
DOID:3211	lysosomal storage disease Aliases: disorder of lysosomal enzyme inborn lysosomal enzyme disorder lysosomal storage metabolism disorder	AGA ARSA ARSB ARSG ARSI ARSK ASAH1 CD1D CHIT1 CTNS CTSA FIG4 FUCA1 FUT1 GAA GALC GALNS GBA1 GLA GLB1 GNPTAB GNPTG GNS GPNMB GUSB HEXA HEXB HSD17B1 HYAL1 IDS IDUA IGF2R LIPA MAN2B1 MANBA MGAM NAGLU NEU1 OGA PIP4K2A PPT1 PRKAA2 PSAP SGSH SI SLC17A5 SMPD1 SUMF1	10457 10724 1118 1497 153642 175 22901 2517 2523 2548 2581 2588 2629 26503 2717 2720 2799 285362 2990 3073 3074 3292 3373 340075 3423 3425 3482 3988 410 411 4125 4126 427 4669 4758 5305 5476 5538 5563 5660 6448 6476 6609 79158 84572 8972 912 9896	Homo sapiens (human)
DOID:3777	granuloma annulare Aliases: Granulome annulare	ACSL4 AKR1A1 ALDH2 ALDH3A2 CLEC7A COL9A2 EBP ELOVL4 GAPDH ICAM1 KDSR NSDHL PGM3 PIGL PLCG2 PTGS2 RENBP SOAT1 ST3GAL4 SULT2B1	10327 10682 1298 217 2182 224 2531 2597 3383 50814 5238 5336 5743 5973 64581 6484 6646 6785 6820 9487	Homo sapiens (human)
DOID:0060847	Leri-Weill dyschondrosteosis	EXT1 EXT2	2131 2132	Homo sapiens (human)

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