GlyCosmos Portal

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Displaying entries **6526 - 6550** of **7942** in total

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Disease ID	Disease Name	Gene Symbol ▼	Gene ID	Organism
DOID:1561	cognitive disorder Aliases: cognitive disease	ACHE CD14 CD38 COMT IGF2R SMUG1	1312 23583 3482 43 929 952	Homo sapiens (human)
DOID:1002	endometritis	ACHE CAT CYP2R1 GPAT3 ICAM1 PTEN PTGS2 SLC26A2	120227 1836 3383 43 5728 5743 847 84803	Homo sapiens (human)
DOID:13487	childhood disintegrative disease Aliases: Disintegrative psychosis Heller's syndrome Symbiotic psychosis	ACHE CALR COMT HPGDS	1312 27306 43 811	Homo sapiens (human)
DOID:0050458	juvenile myelomonocytic leukemia	ACHE CALR CD14 CD38 ETNK1 FCGR3B FUT1 FUT4 IL18R1 IL1R1 INPP5D LYZ MOGS PAFAH1B1 PARP1 PIK3CA PIK3CB PIK3CD PIK3CG PTEN SOAT1 XYLT2	142 2215 2523 2526 3554 3635 4069 43 5048 5290 5291 5293 5294 55500 5728 64132 6646 7841 811 8809 929 952	Homo sapiens (human)
DOID:649	prion disease Aliases: Prion disease pathway Prion protein disease Spongiform Encephalopathy prion induced disorder transmissible spongiform encephalopathy	ACHE BST1 CD14 CD44 CHI3L1 GPI LGALS1 OGG1 PDIA3 PIK3CA PIK3CB PIK3CD PIK3CG PRKAA2 PRNP PTGS2 SMUG1	1116 23583 2821 2923 3956 43 4968 5290 5291 5293 5294 5563 5621 5743 683 929 960	Homo sapiens (human)
DOID:422	congenital structural myopathy	ACHE B4GAT1 CD38 CHAT CHKB CLEC10A CYP19A1 FKRP FKTN GFPT1 GMPPB HACD1 IDS LARGE1 MTM1 MTMR14 MTMR1 MTMR2 OVGP1 POMGNT1 POMT1 SIRT4 SLC2A4	10462 10585 1103 11041 1120 1588 2218 23409 2673 29925 3423 43 4534 5016 55624 64419 6517 79147 8776 8898 9200 9215 952	Homo sapiens (human)
DOID:14717	centronuclear myopathy Aliases: myotubular myopathy	ACHE B4GAT1 CD38 CHAT CHKB CLEC10A CYP19A1 FKRP FKTN GFPT1 GMPPB HACD1 IDS LARGE1 MTM1 MTMR14 MTMR1 MTMR2 MTMR6 MTMR7 MTMR8 OVGP1 POMGNT1 POMT1 SIRT4 SLC2A4	10462 10585 1103 11041 1120 1588 2218 23409 2673 29925 3423 43 4534 5016 55613 55624 64419 6517 79147 8776 8898 9107 9108 9200 9215 952	Homo sapiens (human)
DOID:0070128	congenital nongoitrous hypothyroidism 6 Aliases: CHNG6	ACHE ASAH1 B3GLCT EFNA5 ENO2 G6PD	145173 1946 2026 2539 427 43	Homo sapiens (human)
DOID:0070125	congenital nongoitrous hypothyroidism 5 Aliases: CHNG5	ACHE ASAH1 B3GLCT EFNA5 ENO2 G6PD	145173 1946 2026 2539 427 43	Homo sapiens (human)
DOID:0070124	congenital nongoitrous hypothyroidism 2 Aliases: CHNG2 congenital hypothyroidism due to thyroid dysgenesis or hypoplasia	ACHE ASAH1 B3GLCT EFNA5 ENO2 G6PD	145173 1946 2026 2539 427 43	Homo sapiens (human)
DOID:0070126	congenital nongoitrous hypothyroidism 1 Aliases: CHNG1 TSH resistance	ACHE ASAH1 B3GLCT EFNA5 ENO2 G6PD	145173 1946 2026 2539 427 43	Homo sapiens (human)
DOID:0070127	congenital nongoitrous hypothyroidism 3 Aliases: CHNG3	ACHE ASAH1 B3GLCT EFNA5 ENO2 G6PD	145173 1946 2026 2539 427 43	Homo sapiens (human)
DOID:0111140	IGSF1 deficiency syndrome Aliases: CHTE X-linked central congenital hypothyroidism with late-onset macroorchidism X-linked central congenital hypothyroidism with late-onset testicular enlargement central hypothyroidism and testicular enlargement	ACHE ASAH1 B3GLCT EFNA5 ENO2 G6PD	145173 1946 2026 2539 427 43	Homo sapiens (human)
DOID:4249	Gerstmann-Straussler-Scheinker syndrome Aliases: Gerstmann-Straussler-Scheinker disease PRION DEMENTIA	ACHE APRT CYP7A1 G6PC1 GBE1 GYG1 GYS2 MDH1 MGAM PRNP PYGL PYGM SI SLC37A4	1581 2538 2542 2632 2992 2998 353 4190 43 5621 5836 5837 6476 8972	Homo sapiens (human)
DOID:14175	von Hippel-Lindau disease Aliases: Hippel Lindau syndrome von Hippel-Lindau syndrome	ACHE APRT CHGA CYP19A1 CYP1B1 CYP2B6 IDH2 KLRD1 MUTYH PIK3CA PIK3CB PIK3CD PIK3CG PNPLA6 PRKAA2 PTEN PTGS2 PYGM SDHB SDHC SDHD SLC2A3 SMUG1 SORD TUSC3	10908 1113 1545 1555 1588 23583 3418 353 3824 43 4595 5290 5291 5293 5294 5563 5728 5743 5837 6390 6391 6392 6515 6652 7991	Homo sapiens (human)
DOID:3852	Peutz-Jeghers syndrome Aliases: Colonic hamartomatous polyp Peutz Jeghers colon polyp Peutz Jeghers polyp Peutz-Jeghers polyp of small Intestine gastric Peutz-Jeghers polyp peutz-jeghers small bowel hamartoma	ACHE APRT CHGA CYP19A1 CYP1B1 CYP2B6 IDH2 KLRD1 MUTYH PIK3CA PIK3CB PIK3CD PIK3CG PNPLA6 PRKAA2 PTEN PTGS2 PYGM SDHB SDHC SDHD SLC2A3 SMUG1 SORD TUSC3	10908 1113 1545 1555 1588 23583 3418 353 3824 43 4595 5290 5291 5293 5294 5563 5728 5743 5837 6390 6391 6392 6515 6652 7991	Homo sapiens (human)
DOID:437	myasthenia gravis	ACHE APRT B3GAT1 CD55 CDIPT CDS1 CLC CNTFR CYP21A2 CYP3A5 IL18R1 LGALS1 LGALS8 NCAM1	1040 10423 1178 1271 1577 1589 1604 27087 353 3956 3964 43 4684 8809	Homo sapiens (human)
DOID:0060194	amyotrophic lateral sclerosis type 2 Aliases: ALS2 amyotrophic lateral sclerosis 2 amyotrophic lateral sclerosis 2, juvenile	ACHE APRT ASAH1 CAT CLEC10A FCN2 FIG4 GFRA1 HEXB HK2 NT5E OGA PNPLA6 SARM1 TIGAR TMED9	10462 10724 10908 2220 23098 2674 3074 3099 353 427 43 4907 54732 57103 847 9896	Homo sapiens (human)
DOID:0060196	amyotrophic lateral sclerosis type 4 Aliases: ALS 4 amyotrophic lateral sclerosis 4 amyotrophic lateral sclerosis 4, juvenile dHMN with upper motor neuron signs distal hereditary motor neuropathy with pyramidal features distal hereditary motor neuropathy with upper motor neuron signs	ACHE APRT ASAH1 CAT CLEC10A FCN2 FIG4 GFRA1 HEXB HK2 NT5E OGA PNPLA6 SARM1 TIGAR TMED9	10462 10724 10908 2220 23098 2674 3074 3099 353 427 43 4907 54732 57103 847 9896	Homo sapiens (human)
DOID:231	motor neuron disease	ACHE APRT ASAH1 CAT CLEC10A FCN2 FIG4 GAL3ST1 GFRA1 HEXB HK2 NT5E OGA PNPLA6 SARM1 SLC35A1 TIGAR TMED9	10462 10559 10724 10908 2220 23098 2674 3074 3099 353 427 43 4907 54732 57103 847 9514 9896	Homo sapiens (human)
DOID:230	lateral sclerosis Aliases: adult-onset primary lateral sclerosis primary lateral sclerosis	ACHE APRT ASAH1 CAT CLEC10A FCN2 FIG4 GAL3ST1 GFRA1 HEXB HK2 NT5E OGA PNPLA6 SARM1 SLC35A1 TIGAR TMED9	10462 10559 10724 10908 2220 23098 2674 3074 3099 353 427 43 4907 54732 57103 847 9514 9896	Homo sapiens (human)
DOID:0111064	autosomal recessive distal hereditary motor neuronopathy 1 Aliases: DSMA1 SIANRF SMARD1 autosomal recessive distal spinal muscular atrophy 1 autosomal recessive spinal muscular atrophy with respiratory distress dHMN6 diaphragmatic spinal muscular atrophy distal hereditary motor neuropathy type 6 distal spinal muscular atrophy 1 distal-HMN type 6 severe infantile axonal neuropathy with respiratory failure type 1 spinal muscular atrophy with respiratory distress type 1	ACHE APRT ASAH1 CAT CLEC10A FCN2 FIG4 FUT4 GFRA1 HEXB HK2 NT5E OGA PNPLA6 SARM1 TIGAR TMED9	10462 10724 10908 2220 23098 2526 2674 3074 3099 353 427 43 4907 54732 57103 847 9896	Homo sapiens (human)
DOID:4873	anterior horn cell disease	ACHE APRT ASAH1 CAT CLEC10A DAG1 FCN2 FIG4 GAL3ST1 GFRA1 HEXB HK2 MTMR4 NT5E OGA PNPLA6 SARM1 SLC35A1 TIGAR TMED9	10462 10559 10724 10908 1605 2220 23098 2674 3074 3099 353 427 43 4907 54732 57103 847 9110 9514 9896	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:11100	Q fever Aliases: Infection due to Coxiella burnetii	ACHE ALPI ALPP APRT CS DHCR24 LSS MTAP PTGS2 SMUG1	1431 1718 23583 248 250 353 4047 43 4507 5743	Homo sapiens (human)

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