GlyCosmos Portal

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

Displaying entries **6726 - 6750** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼
DOID:0060055	popliteal pterygium syndrome Aliases: facio-genito-popliteal syndrome popliteal web syndrome	B3GLCT POFUT2	145173 23275	Homo sapiens (human)
DOID:2615	papilloma Aliases: papillomatosis	ALDH3A2 AMACR ARSF B3GAT1 CALR CAT CEACAM5 DCN EBP GLB1 GOLPH3 ICAM1 PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PLA2G4A PTEN PTGES PTGS2 SDC1 SDHB SDHC SDHD ST8SIA4 STS TM7SF2 XYLT2	1048 10682 1634 224 23600 27087 2720 3383 412 416 5290 5291 5293 5294 5310 5321 5728 5743 6382 6390 6391 6392 64083 64132 7108 7903 811 847 9536	Homo sapiens (human)
DOID:14177	congenital hypogammaglobulinemia Aliases: Congenital hypogammaglobulinaemia	CD14 FCER2 FCGR3B GLA NT5E PIK3CA PIK3CB PIK3CD PIK3CG	2208 2215 2717 4907 5290 5291 5293 5294 929	Homo sapiens (human)
DOID:0080302	mixed sleep apnea Aliases: complex sleep apnea	ACE CYP1A2 CYP2J2 ENOSF1 GNE GNPTAB IDS LGALS3 NANS PTEN PTGS2	10020 1544 1573 1636 3423 3958 54187 55556 5728 5743 79158	Homo sapiens (human)
DOID:0111418	familial apolipoprotein C-II deficiency Aliases: C-II anapolipoproteinemia familial APOC2 deficiency familial apoC-II deficiency hyperlipoproteinemia, type 1b hyperlipoproteinemia, type Ib	LPL	4023	Homo sapiens (human)
DOID:0111147	angioimmunoblastic T-cell lymphoma	DLAT GAPDH IDH1 IDH2 PIK3CA PIK3CB PIK3CD PIK3CG PLCG1 SMUG1 STS	1737 23583 2597 3417 3418 412 5290 5291 5293 5294 5335	Homo sapiens (human)
DOID:9553	adrenal gland disease	SDHB	6390	Homo sapiens (human)
DOID:0110539	autosomal recessive nonsyndromic deafness 97 Aliases: DFNB97 autosomal recessive deafness 97	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:0111154	postural orthostatic tachycardia syndrome Aliases: familial orthostatic tachycardia due to norepinephrine transporter deficiency irritable heart mitral valve prolapse syndrome orhtostatic intolerance orthostatic intolerance due to NET deficiency postural tachycardia syndrome due to NET deficiency soldiers heart	ABO ACE B3GAT3 CHST3 CYP11B2 DSE ENPP1 HEXB OLR1 PAFAH1B1 PLD1 PRKAA2 SCD XYLT1 XYLT2	1585 1636 26229 28 29940 3074 4973 5048 5167 5337 5563 6319 64131 64132 9469	Homo sapiens (human)
DOID:0111253	neurofibromatosis 1 Aliases: NF1 Peripheral Neurofibromatosis Recklinghausen's neurofibromatosis neurofibromatosis type I von Recklinghausen Disease	APRT CD14 CD38 CEL CNTN2 DHDDS ENO2 FH G6PD HSD17B6 IDH1 IDH2 MRC1 PGD PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PTEN SDHB SDHC SDHD SMUG1 SORD	1056 2026 2271 23583 2539 3417 3418 353 4360 5226 5290 5291 5293 5294 5310 5728 6390 6391 6392 6652 6900 79947 8630 929 952	Homo sapiens (human)
DOID:0111263	combined malonic and methylmalonic acidemia Aliases: CMAMMA combined malonic and methylmalonic aciduria	ACSF3	197322	Homo sapiens (human)
DOID:2073	perinatal intestinal perforation	ENPP1	5167	Homo sapiens (human)
DOID:8590	acute vascular insufficiency of intestine Aliases: acute GIT vascular insuffic. acute gastrointestinal tract vascular insuffic. acute intestinal Ischemia acute intestinal vascular insufficiency	PCYT1A	5130	Homo sapiens (human)
DOID:0080410	familial adenomatous polyposis 2 Aliases: MUTYH-associated polyposis MUTYH-related attenuated FAP MUTYH-related attenuated familial adenomatous polyposis MUTYH-related attenuated familial polyposis coli	CEACAM5 CEMIP MUTYH	1048 4595 57214	Homo sapiens (human)
DOID:3196	cellular schwannoma Aliases: cellular Neurinoma	ARSA B3GAT1 CAT CD44 CYP2E1 NCAM1 PIK3CA PIK3CB PIK3CD PIK3CG PRNP PTEN PTGS2 SIGLEC7 STS TMEM165 VCAN	1462 1571 27036 27087 410 412 4684 5290 5291 5293 5294 55858 5621 5728 5743 847 960	Homo sapiens (human)
DOID:4697	perineurioma Aliases: soft tissue Perineurioma	ACHE PTEN SMUG1	23583 43 5728	Homo sapiens (human)
DOID:10301	parotitis	CALR PIK3CD	5293 811	Homo sapiens (human)
DOID:535	sleep disorder Aliases: Non-organic sleep disorder	TFAP2B	7021	Homo sapiens (human)
DOID:4400	dermatosis papulosa nigra	LGALS3 NTHL1 PIK3CA PIK3CB PIK3CD PIK3CG	3958 4913 5290 5291 5293 5294	Homo sapiens (human)
DOID:0112282	spondyloepiphyseal dysplasia Kimberley type Aliases: SEDK	ACAN	176	Homo sapiens (human)
DOID:9395	croup Aliases: Croup syndrome Laryngotracheobronchitis acute Obstructive Laryngitis acute laryngotracheobronchitis	CD14	929	Homo sapiens (human)
DOID:5434	scrapie	PRNP	5621	Homo sapiens (human)
DOID:0050580	hereditary lymphedema	AKR1B1 NCAM1 PTEN SMUG1	231 23583 4684 5728	Homo sapiens (human)
DOID:0070145	hereditary sensory and autonomic neuropathy type 5 Aliases: HSAN5 hereditary sensory and autonomic neuropathy type V	CAT HPGDS SPTLC1	10558 27306 847	Homo sapiens (human)
DOID:13739	nutmeg liver Aliases: chronic passive congestion of liver	ABO ACACB ACADS ACAT1 ACAT2 ACE ACHE ACSS2 ADH1C AKR1A1 AKR1B1 ALDH2 ALOX15B ALOX5 ALPL ANXA5 APRT ARSA ASGR1 CAT CD14 CD44 CDH13 CEL CHI3L1 CHIT1 CLEC1B CLEC7A COMT CYP11B2 CYP17A1 CYP19A1 CYP1A1 CYP27A1 CYP2B6 CYP2C19 CYP2C8 CYP2C9 CYP2E1 CYP2J2 CYP2R1 CYP3A5 CYP4A11 CYP4F2 CYP7A1 DHCR7 EBP EFNA5 ENPP1 EPHX2 EXTL3 FADS1 FADS2 FCGR3B FDPS FUT3 GALNT2 GALNT3 GCK GGT1 GLO1 GLUL GPD1L GPIHBP1 GPLD1 GPX1 GPX3 HPGDS HPSE2 HPSE HSD11B1 HSPG2 ICAM1 IL1RL1 ISYNA1 ITLN1 KL LCAT LGALS2 LGALS3 LIPA LIPC LIPG LMAN1 LPCAT3 LPL MBL2 MCFD2 MGAM MPI MTAP NAMPT NCAM1 NDST4 NDUFAB1 NT5E OGG1 OLR1 OXCT1 PCYT1A PIK3C2A PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PLA2G10 PLA2G15 PLA2G1B PLA2G2A PLA2G5 PLA2G6 PLA2G7 PLB1 PLPP3 PRKAA2 PTEN PTGDS PTGS1 PTGS2 RENBP RPN1 SCD SELE SELL SELP SFTPD SI SIGLEC1 SIRT4 SIRT6 SLC33A1 SLC35G1 SLC5A1 SMPD1 SMUG1 SOAT1 SOAT2 SRGN ST6GALNAC5 ST8SIA4 TM7SF2 UGT1A1 UGT1A6 UMOD VCAM1	1012 10135 10162 10327 1056 10682 10855 1116 1118 120227 126 1312 151056 1543 1555 1557 1558 1559 1571 1573 1577 1579 1581 1585 1586 1588 1593 159371 1636 1717 1946 2053 2137 217 2215 2224 231 23171 23409 23583 23659 240 247 249 2525 2590 2591 2645 2678 27306 2739 2752 28 2822 2876 2878 308 32 3290 3339 3383 338328 35 353 38 39 3931 3957 3958 3988 3990 3992 3998 4023 410 4153 43 432 4351 4507 4684 4706 4907 4968 4973 5019 51266 5130 51477 51548 5167 5286 5290 5291 5293 5294 5310 5319 5320 5322 54578 54658 5552 55600 5563 55902 5728 5730 5742 5743 5973 60495 6184 6319 6401 6402 6403 6441 64579 64581 6476 6523 6609 6614 6646 7108 7369 7412 7903 7941 81849 8398 8399 8435 847 8529 8613 8972 90411 9173 9197 929 9365 9388 9415 960	Homo sapiens (human)

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