GlyCosmos Portal

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Alliance of Genome Resources	July 29, 2024
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Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **926 - 950** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism
DOID:0060873	isolated growth hormone deficiency type IA Aliases: IGHD IA Illig-type growth hormone deficiency autosomal recessive isolated growth hormone deficiency pituitary dwarfism I primordial dwarfism sexual ateleiotic dwarfism	ACSM3 ADH5 CD44 CD55 CYP17A1 CYP19A1 GAS1 GK GPC1 HJV HS6ST1 HSD17B3 L1CAM MMUT NT5E PMM2 PNPLA6 SEMA7A SMPD3 SOAT1 STS TYMP	10908 128 148738 1586 1588 1604 1890 2619 2710 2817 3293 3897 412 4594 4907 5373 55512 6296 6646 8482 9394 960	Homo sapiens (human)
DOID:9119	acute myeloid leukemia Aliases: AML - acute Myeloid Leukemia Leukemia, Myelocytic, acute acute myeloblastic leukaemia acute myeloblastic leukemia acute myelogenous leukaemia acute myelogenous leukemia acute myeloid leukaemia	AACS ABO ACACA ACE ACER3 ACHE ACLY ACOT7 ACSL5 ACSL6 ADH4 AGRN AKR1B1 AKR1C3 AKR1C4 ALG3 ALOX12 ALOX5 ALPI ALPP AMACR ANXA4 ANXA5 APRT ARSD ASAH1 ATRNL1 B3GALT5 BAAT BST1 CACNA2D1 CACNA2D3 CALR CAT CBR1 CBR3 CD14 CD177 CD22 CD33 CD38 CD44 CD48 CD55 CD74 CDH13 CEL CEMIP CHI3L1 CHIT1 CHST9 CLC CLEC12A CLEC7A COLEC10 CPT1A CRYL1 CYP1A1 CYP1A2 CYP1B1 CYP2B6 CYP2E1 CYP3A4 CYP7A1 DAG1 DHDDS DLAT EBP EFNA2 EFNA5 ELOVL6 ENO2 ENPP3 EXTL3 FCER2 FCGR3B FH FOLR2 FUT1 FUT4 G6PC3 G6PD GALNT14 GALNT2 GBE1 GDPD5 GGT1 GLB1L2 GLUL GP2 GPAT3 GPI GPX1 GPX3 GUSB HK2 HMMR HPGDS HPRT1 HPSE2 ICAM1 IDH1 IDH2 IDUA IL18R1 IL1R1 IL1RAP IL1RL1 INPP4B INPP5D ITPK1 KLRD1 KLRK1 LGALS1 LGALS3 LGALS9 LYZ MACROD2 MBD4 MCAT ME3 MICA MOGS MPI MTMR3 NAMPT NCAM1 NT5E NTM OARD1 OGG1 PAFAH1B1 PARG PARP1 PARP9 PCYT1A PDIA3 PFKFB3 PGP PGS1 PIGA PIGN PIK3CA PIK3CB PIK3CD PIK3CG PIP4K2A PIP4K2B PKD1 PKM PLA2G4A PLA2G5 PLA2R1 PLAUR PLB1 PLCB1 PLCB4 PLCE1 PLCG1 PLCG2 PMM2 PNLIP POGLUT1 POMGNT2 PRKAA2 PTEN PTGES3 PTGS1 PTGS2 QPRT RPN1 RTN4R RTN4RL1 SDC4 SELL SHMT1 SIGLEC5 SIGLEC7 SIRT2 SIRT6 SLC27A5 SLC2A3 SLC2A5 SLC35F3 SLC35G1 SMC3 SMPD3 SMUG1 SOAT1 SPACA3 SPHK1 SRGN ST3GAL4 ST8SIA3 STS TIGAR TMEM260 TNFRSF10C TNKS TP53 UGCG UGT1A1 ULBP2 UMOD UNG VCAM1 VCAN XYLT1	100507436 1012 10135 10195 10317 1056 10584 10682 10728 10873 10998 1109 1116 1118 11332 1178 124912 127 1374 140733 142 1462 146760 148641 151056 1543 1544 1545 1555 1571 1576 1581 159371 160364 1604 1605 1636 1737 1943 1946 2026 2137 2208 221443 2215 2271 22914 22925 22933 231 23236 23305 23475 2350 23556 23583 23600 239 240 248 250 2523 2526 2539 2590 26033 2632 2678 27036 27306 27349 2752 28 2813 2821 283871 2876 2878 2923 2990 307 308 3099 31 3161 3251 3383 3417 3418 3425 353 3554 3556 3635 3705 375790 3824 3956 3958 3965 4069 412 414 427 43 4351 4684 47 4907 4968 5048 50863 51046 51084 51196 5130 51548 5169 51703 5209 5277 5290 5291 5293 5294 5305 5310 5315 5321 5322 5329 5332 5335 5336 5373 5406 54658 54916 55331 55512 5552 5563 55799 56983 570 57103 57126 57214 5728 5742 5743 60495 6184 6385 6402 64131 64581 6470 6484 65078 6515 6518 65985 6646 683 7157 7357 7369 7374 7412 781 7841 79071 79623 79947 80328 811 81544 83539 83666 8396 847 84803 84892 8505 8644 8658 873 874 8778 8794 8809 8821 8877 8897 8930 89944 9126 9173 92579 929 933 945 9489 952 960 962 972	Homo sapiens (human)
DOID:2913	acute pancreatitis	Lep	25608	Rattus norvegicus (Norway rat)
DOID:0040091	autoimmune pancreatitis	ALPI ALPP AMY2A ENO1 PKD1 SMUG1	2023 23583 248 250 279 5310	Homo sapiens (human)
DOID:12894	Sjogren's syndrome Aliases: Sicca syndrome Sjogren syndrome xerodermosteosis	Tnf	24835	Rattus norvegicus (Norway rat)
DOID:14227	azoospermia	ALPI ALPP ART3 CACNA2D1 CAT CD44 CYP19A1 DPY19L2 ELOVL6 FUT1 HJV HPGDS ISYNA1 MICA NDST1 NDST2 NDST3 NDST4 OCRL PARP2 PDHA2 PGD PGK2 PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PLCH2 SCP2 SRD5A2 STS TEX101	10038 100507436 148738 1588 248 250 2523 27306 283417 3340 412 419 4952 51477 5161 5226 5232 5290 5291 5293 5294 5310 6342 64579 6716 781 79071 83639 847 8509 9348 960 9651	Homo sapiens (human)
DOID:5212	congenital disorder of glycosylation Aliases: carbohydrate-deficient glycoprotein syndrome	alg1 alg3 b4galt1.1 b4galt1.2	100127746 100145518 549418 594994	Xenopus tropicalis (tropical clawed frog)
DOID:10584	retinitis pigmentosa Aliases: pericentral pigmentary retinopathy	pomgnt1 st3gal3	100158594 402789	Xenopus tropicalis (tropical clawed frog)
DOID:0110479	autosomal recessive nonsyndromic deafness 21 Aliases: DFNB21 autosomal recessive deafness 21	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:0001816	angiosarcoma Aliases: hemangiosarcoma	DCN ICAM1 PIK3CA PIK3CB PIK3CD PIK3CG PLCG1 PTEN SMUG1 TP53	1634 23583 3383 5290 5291 5293 5294 5335 5728 7157	Homo sapiens (human)
DOID:4483	rhinitis	Il1rl1 Lep Tlr2 Tlr6 Tnf	16846 17082 21899 21926 24088	Mus musculus (house mouse)
DOID:10718	giardiasis Aliases: Infection by Giardia lamblia beaver feaver	AGL CEL CRYL1 H6PD HPRT1 MBL2 PARP9 SLC27A5 TPI1 UGDH UPP1	1056 10998 178 3251 4153 51084 7167 7358 7378 83666 9563	Homo sapiens (human)
DOID:6432	pulmonary hypertension	HXK1 RHO1	850614 856294	Saccharomyces cerevisiae S288C
DOID:1935	Bardet-Biedl syndrome	Arl6	56297	Mus musculus (house mouse)
DOID:3093	nervous system cancer Aliases: malignant neoplasm of nervous system neoplasm of nervous system nervous system neoplasm neural neoplasm neural tumor tumor of the nervous system	ENO2 IDH1 L2HGDH MUTYH NEU1 PTEN	2026 3417 4595 4758 5728 79944	Homo sapiens (human)
DOID:0110297	autosomal recessive limb-girdle muscular dystrophy type 2K Aliases: LGMD2K MDDGC1 limb-girdle muscular dystrophy-intellectual disability syndrome muscular dystrophy limb-girdle type 2K muscular dystrophy-dystroglycanopathy (limb-girdle) type C 1	Pomt1	84430	Rattus norvegicus (Norway rat)
DOID:10600	chronic tic disorder Aliases: chronic motor or vocal tic disorder	CD44 ENO2	2026 960	Homo sapiens (human)
DOID:0060222	Scheie syndrome Aliases: mucopolysaccharidosis type 1S mucopolysaccharidosis type IS mucopolysaccharidosis type V	Idua	34544	Drosophila melanogaster (fruit fly)
DOID:3193	peripheral nerve sheath neoplasm Aliases: neoplasm of the nerve Sheath nerve sheath tumour	ACHE PTEN SMUG1	23583 43 5728	Homo sapiens (human)
DOID:0110278	autosomal recessive limb-girdle muscular dystrophy type 2D Aliases: Alpha-sarcoglycanopathy DMDA2 Duchenne-like autosomal recessive muscular dystrophy type 2 LGMD2D muscular dystrophy, limb-girdle, type 2D primary adhalinopathy	Dg	36773	Drosophila melanogaster (fruit fly)
DOID:0060075	estrogen-receptor positive breast cancer	Pik3ca	18706	Mus musculus (house mouse)
DOID:9155	mucocutaneous leishmaniasis Aliases: American cutaneous leishmaniasis American mucocutaneous leishmaniasis Cutaneous leishmaniasis, American Mucocutaneous leishmaniasis, American New World cutaneous leishmaniasis	Tnf	21926	Mus musculus (house mouse)
DOID:0110164	Charcot-Marie-Tooth disease type 2D Aliases: CMT2D Charcot-Marie-Tooth disease neuronal type 2D Charcot-Marie-Tooth neuropathy type 2D autosomal dominant Charcot-Marie-Tooth disease type 2D	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:0111670	primary hyperoxaluria type 1 Aliases: HP1 alanine-glyoxylate aminotransferase deficiency glycolic aciduria hepatic AGT deficiency oxalosis I peroxisomal alanine-glyoxylate aminotransferase deficiency serine pyruvate aminotransferase deficiency	AGXT	189	Homo sapiens (human)
DOID:9743	diabetic neuropathy	Akr1b1 Bad Pgf Sord Tlr4 Tnf Ucp2	24192 24788 24835 29260 54315 64639 94203	Rattus norvegicus (Norway rat)

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