GlyCosmos Portal

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Displaying entries **1976 - 2000** of **4621** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▲	Organism
DOID:0111148	isolated ectopia lentis Aliases: IEL familial ectopia lentis	B3GALT6 HSPG2	126792 3339	Homo sapiens (human)
DOID:0112198	spondyloepimetaphyseal dysplasia with joint laxity type 1 Aliases: SEMDJL1 spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures	B3GALT6	126792	Homo sapiens (human)
DOID:0060294	cold-induced sweating syndrome Aliases: Crisponi syndrome Sohar-Crisponi syndrome	CNTFR	1271	Homo sapiens (human)
DOID:0080329	cold-induced sweating syndrome 1	CNTFR	1271	Homo sapiens (human)
DOID:12377	spinal muscular atrophy	ACHE ALPI ALPP ARSF ASAH1 CALR CANX CAT CHODL CNTN1 FCN2 FUT1 GAPDH GM2A HEXA HEXB HSPG2 KDSR LGALS3 PGK1 PRNP PTEN PTGS2	1272 140578 2220 248 250 2523 2531 2597 2760 3073 3074 3339 3958 416 427 43 5230 5621 5728 5743 811 821 847	Homo sapiens (human)
DOID:12842	Guillain-Barre syndrome Aliases: Infectious neuronitis Post-infectious polyneuritis Postinfectious polyneuritis acute infective polyneuritis acute inflammatory demyelinating polyradiculopathy acute postinfectious polyneuropathy	CNTN1 CNTN2 CSGALNACT1 ENO2 FCGR3B GALE GBE1 GLO1 HPRT1 ICAM1 ISYNA1 MAG MBL2 MRC1 PKD1 PLA2G1B PLB1 PTGDS PTGS1 PTGS2 SIGLEC7 SIGLEC9 SMPD2 SMPD3 ST6GALNAC4	1272 151056 2026 2215 2582 2632 27036 27090 27180 2739 3251 3383 4099 4153 4360 51477 5310 5319 55512 55790 5730 5742 5743 6610 6900	Homo sapiens (human)
DOID:12889	Miller Fisher syndrome Aliases: Fisher's syndrome Miller-Fisher variant of Guillain-Barre syndrome	CNTN1 CSGALNACT1 ENO2 FCGR3B GALE GLO1 HPRT1 ICAM1 ISYNA1 MBL2 MRC1 PLB1 PTGS1 PTGS2 SIGLEC7 SIGLEC9 SMPD2 SMPD3 ST6GALNAC4	1272 151056 2026 2215 2582 27036 27090 27180 2739 3251 3383 4153 4360 51477 55512 55790 5742 5743 6610	Homo sapiens (human)
DOID:0111377	fetal akinesia deformation sequence syndrome 1 Aliases: FADS1	AGRN CNTN1 DPAGT1 GBA1 GBE1 PDHA1 PIGS	1272 1798 2629 2632 375790 5160 94005	Homo sapiens (human)
DOID:0111375	fetal akinesia deformation sequence syndrome Aliases: FADS Pena-Shokeir syndrome type 1 arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome fetal akinesia sequence foetal akinesia deformation sequence syndrome foetal akinesia sequence	AGRN CNTN1 DPAGT1 GBA1 GBE1 PDHA1 PIGS	1272 1798 2629 2632 375790 5160 94005	Homo sapiens (human)
DOID:5213	chronic inflammatory demyelinating polyradiculoneuropathy	CNTN1 CNTN2 GBE1 HPRT1 MAG PTGS2	1272 2632 3251 4099 5743 6900	Homo sapiens (human)
DOID:2536	chronic inflammatory demyelinating polyneuritis	CNTN1 CNTN2 GBE1 HPRT1 MAG PTGS2	1272 2632 3251 4099 5743 6900	Homo sapiens (human)
DOID:0080101	Compton-North congenital myopathy Aliases: congenital myopathy 12	CNTN1	1272	Homo sapiens (human)
DOID:12450	pancytopenia	ADH5 ALDH2 CALR CD1D CD48 COG6 CPT2 DGKZ FUT1 G6PC3 G6PD GBA1 GLB1 GPI IDS KLRK1 LIPA MMUT PCCA PCCB PGM3 PTEN PTGDS SLC17A5 TALDO1 TBXAS1 VCAM1	128 1376 217 22914 2523 2539 2629 26503 2720 2821 3423 3988 4594 5095 5096 5238 5728 5730 57511 6888 6916 7412 811 8525 912 92579 962	Homo sapiens (human)
DOID:13636	Fanconi anemia Aliases: Fanconi anaemia Fanconi pancytopenia Fanconi panmyelopathy Fanconi's anaemia Fanconi's anemia	ADH5 ALDH2 ANXA7 CAT CD33 CD38 CD44 CD48 CTNS CYP11A1 CYP2B6 ELOVL6 ENO1 FUT1 GCK HPGDS HPRT1 ICAM1 LPL ME1 MRC1 NCAM1 NEIL1 NEIL3 NTHL1 OCRL PARP1 PFKFB3 PRKAA2 PTEN SOAT1 TIGAR TNF VCAM1	128 142 1497 1555 1583 2023 217 2523 2645 27306 310 3251 3383 4023 4199 4360 4684 4913 4952 5209 55247 5563 57103 5728 6646 7124 7412 79071 79661 847 945 952 960 962	Homo sapiens (human)
DOID:9279	hyperhomocysteinemia	ACE ADH5 ALOX5 ATP1A2 CAT CYP1A1 CYP2J2 FOLR1 FOLR2 G6PD GPX1 GPX7 HSD11B1 ICAM1 MBL2 OLR1 PC PIK3CA PIK3CB PIK3CD PIK3CG PKM PTGS2 SHMT1 SLC33A1 SMPD1 VCAM1	128 1543 1573 1636 2348 2350 240 2539 2876 2882 3290 3383 4153 477 4973 5091 5290 5291 5293 5294 5315 5743 6470 6609 7412 847 9197	Homo sapiens (human)
DOID:0080952	AMED syndrome Aliases: AMEDS	ADH5	128	Homo sapiens (human)
DOID:2855	hyperthyroxinemia	ADH5	128	Homo sapiens (human)
DOID:10041	dysplastic nevus syndrome Aliases: FAMM syndrome familial atypical multiple mole-melanoma	ACO1 ALPP AMACR CD44 COL9A2 CSPG4 CYP1B1 CYP21A2 CYP27B1 DERA FASN GAPDH GLT8D1 GOLPH3 HPRT1 HYAL2 ICAM1 IDH1 IGF2R INPP5K LGALS1 LGALS3 MELTF MRC1 MTAP PARP1 PDIA3 PIGU PIK3CA PLA2G1B PLA2G2A PTEN PTGS2 RECK SDC2 SMUG1 VCAM1	128869 1298 142 1464 1545 1589 1594 2194 23583 23600 250 2597 2923 3251 3383 3417 3482 3956 3958 4241 4360 4507 48 51071 51763 5290 5319 5320 55830 5728 5743 6383 64083 7412 8434 8692 960	Homo sapiens (human)
DOID:0050558	Ullrich congenital muscular dystrophy Aliases: ULLRICH DISEASE Ullrich scleroatonic muscular dystrophy	COL6A1 CSPG4	1291 1464	Homo sapiens (human)
DOID:0050663	Bethlem myopathy Aliases: benign congenital muscular dystrophy	COL6A1 DAG1 FKRP HSPG2	1291 1605 3339 79147	Homo sapiens (human)
DOID:0060258	reticulate acropigmentation of Kitamura Aliases: RAPK	ACAN COL9A2 COMT POFUT1 POGLUT1	1298 1312 176 23509 56983	Homo sapiens (human)
DOID:0060256	Dowling-Degos disease Aliases: dark dot disease reticular pigment anomaly of flexures	ACAN COL9A2 COMT POFUT1 POGLUT1	1298 1312 176 23509 56983	Homo sapiens (human)
DOID:84	osteochondritis dissecans Aliases: OCD	ACAN COL9A2 COMT TPI1	1298 1312 176 7167	Homo sapiens (human)
DOID:14004	thoracic aortic aneurysm	B3GAT3 COL9A2 PKD1 PKD2 PLOD3 SLC2A10 VCAN	1298 1462 26229 5310 5311 81031 8985	Homo sapiens (human)
DOID:0050657	Bannayan-Riley-Ruvalcaba syndrome Aliases: Bannayan-Zonana syndrome Cowden syndrome 1 Riley-Smith syndrome Ruvalcaba-Myhre-Smith syndrome	ACAN ACAT1 ACE ARSD CEACAM6 CHST3 COL9A2 CYP11A1 DGCR2 GPX1 IL18RAP INPP5E MBL2 MUTYH PIGX PIK3CA PIK3CB PIK3CD PIK3CG PTEN SCD SDC1 SDHB SDHC SDHD SORD	1298 1583 1636 176 2876 38 414 4153 4595 4680 5290 5291 5293 5294 54965 56623 5728 6319 6382 6390 6391 6392 6652 8807 9469 9993	Homo sapiens (human)

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