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GlyCosmos Diseases

List of diseases involving glycan related genes. The information of each database of Glyco-Disease Genes Database (GDGDB), DisGeNET, and Alliance of Genome Resources is integrated into one list.

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

Displaying entries **3076 - 3100** of **4621** in total

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Disease ID	Disease Name ▼	Gene Symbol	Gene ID	Organism
DOID:8991	cervix uteri carcinoma in situ Aliases: CIN III CIN III - carcinoma in situ of cervix CIN III - severe dyskaryosis Cervix Ca in situ Severe Dysplasia of the Cervix Uteri Severe dysplasia of cervix carcinoma in situ of cervix carcinoma in situ of uterine cervix carcinoma of cervix stage 0 cervical intraepithelial neoplasia grade III with severe dysplasia squamous intraepithelial neoplasia, grade III	ACE ACSL1 AGK AKR1B10 APRT CACNA2D2 CALR CANX CAT CD44 CEACAM5 CYP1A1 CYP2B6 CYP2E1 EXT1 HACD1 HPGDS HPSE HS3ST2 KLRD1 KLRK1 LGALS3 LGALS9 LIPA LPIN1 MASP2 MBL2 MICA MMUT MPG MUTYH OGG1 PARP1 PDIA3 PIK3CA PLAUR PTEN PTGS2 SDHD SMUG1 ST6GALNAC5 ST8SIA4 STS SULF1 VTCN1	100507436 1048 10747 10855 142 1543 1555 1571 1636 2131 2180 22914 23175 23213 23583 27306 2923 353 3824 3958 3965 3988 412 4153 4350 4594 4595 4968 5290 5329 55750 57016 5728 5743 6392 7903 79679 811 81849 821 847 9200 9254 960 9956	Homo sapiens (human)
DOID:6740	cervix small cell carcinoma Aliases: small cell carcinoma of the Cervix Uteri	CHGA	1113	Homo sapiens (human)
DOID:2253	cervix disease	CAT DGCR2 HPGDS MMUT PIK3CA RECK ST6GALNAC5	27306 4594 5290 81849 8434 847 9993	Homo sapiens (human)
DOID:2893	cervix carcinoma Aliases: cancer of cervix carcinoma cervix uteri carcinoma of cervix carcinoma of the Cervix Uteri	ACE ADH1C AKR1B10 AKR1C3 ALPI ALPP ANXA5 APEX1 APRT B3GNT3 B4GALT3 CACNA2D2 CALR CAT CD38 CD44 CD55 CDH13 CEACAM5 CEACAM7 CHI3L1 CLEC10A COMT CYP19A1 CYP1A1 CYP1B1 CYP2E1 CYP4F3 DCN DHCR24 EFNA2 FBP1 FOLR1 G6PD GALNT7 GAPDH GCNT2 GLB1 GPC3 GPNMB GPX2 GPX3 HK2 HMMR HPGDS HPSE2 HPSE HS3ST2 ICAM1 IGF2R IL18R1 IL1R1 IL1RAP INPP4B ITPKC KL KLRK1 L1CAM LDHA LGALS1 LGALS3 LGALS9 LIPA LYPD5 MASP1 MASP2 MBD4 MBL2 MCAT MELTF MGLL MICA MMUT MPG MRC1 MSLN NT5E OGG1 OPCML PARP1 PARP2 PC PDIA3 PGD PIK3CA PIK3CB PIK3CD PIK3CG PIP5KL1 PKM PLA2G4A PLPP1 PRKAA2 PRSS21 PTEN PTGS1 PTGS2 RECK RGN SDC1 SDHA SDHD SIRT2 SMUG1 SOAT1 SPHK1 ST3GAL3 ST3GAL4 ST6GAL1 ST6GALNAC5 STS STT3A TIPARP TKT TKTL1 TM7SF2 TNFRSF10C TYMP UGCG VTCN1 XPNPEP2	10038 100507436 1012 10232 10331 10457 10462 1048 10747 10855 1087 10942 1116 11343 126 1312 138429 142 1543 1545 1571 1588 1604 1634 1636 1718 1890 1943 2203 22914 22933 2348 23583 248 250 2539 2597 25976 2651 2719 2720 27306 27349 284348 2877 2878 2923 308 3099 3161 328 3383 3482 353 3554 3556 3703 3897 3939 3956 3958 3965 3988 4051 412 4153 4241 4350 4360 4594 4907 4968 4978 5091 51809 5226 5290 5291 5293 5294 5315 5321 5563 5648 57016 5728 5742 5743 60495 6382 6389 6392 6480 6484 6487 6646 7086 7108 7357 7512 79679 80271 811 81849 8277 8434 847 8611 8644 8703 8794 8809 8821 8877 8930 9104 9254 9365 952 960 9956	Homo sapiens (human)
DOID:2568	cervicitis	LGALS3 MSLN	10232 3958	Homo sapiens (human)
DOID:3744	cervical squamous cell carcinoma Aliases: squamous cell carcinoma of cervix squamous cell carcinoma of the Cervix Uteri	AGA AGK ANXA5 CALR CANX CD109 CD44 CHPT1 DHDDS EPHX2 FOLR1 HPSE IL18R1 ITPKC LGALS1 MSLN MUTYH OGG1 PDIA3 PIK3CA PIK3CB PIK3CD PIK3CG PTEN SELE SMUG1 ST3GAL1 ST3GAL3 ST3GAL4 ST6GAL1 TM7SF2 TP53 TYMP UGT1A1	10232 10855 135228 175 1890 2053 2348 23583 2923 308 3956 4595 4968 5290 5291 5293 5294 54658 55750 56994 5728 6401 6480 6482 6484 6487 7108 7157 79947 80271 811 821 8809 960	Homo sapiens (human)
DOID:5830	cervical endometrioid adenocarcinoma Aliases: endometrioid carcinoma of the Cervix Uteri	PTEN	5728	Homo sapiens (human)
DOID:5303	cervical clear cell adenocarcinoma Aliases: Clear cell carcinoma of the Cervix Uteri	PIK3CA PIK3CB PIK3CD PIK3CG	5290 5291 5293 5294	Homo sapiens (human)
DOID:4362	cervical cancer Aliases: cervical neoplasm cervix cancer cervix uteri cancer neoplasm of uterine cervix tumor of the Cervix Uteri uterine cervical neoplasm	ACE ADH1C AKR1B10 AKR1C1 AKR1C3 ALPI ALPP ANXA5 APEX1 APRT B3GNT3 B4GALT2 B4GALT3 BAAT CACNA2D2 CALR CAT CBR1 CD38 CD44 CD55 CDH13 CEACAM5 CEACAM7 CHI3L1 CLEC10A COMT CYP19A1 CYP1A1 CYP1B1 CYP2E1 CYP4F3 DCN DHCR24 EFNA2 FBP1 FOLR1 G6PD GALNT7 GAPDH GCNT2 GLB1 GPC1 GPC3 GPNMB GPX2 GPX3 HK2 HMMR HPGDS HPSE2 HPSE HS3ST2 ICAM1 IGF2R IL18R1 IL1R1 IL1RAP INPP4B ITPKC KL KLRK1 L1CAM LDHA LGALS1 LGALS3 LGALS9 LIPA LYPD5 MASP1 MASP2 MBD4 MBL2 MCAT MELTF MGLL MICA MMUT MPG MRC1 MSLN NT5E OGG1 OPCML PARP1 PARP2 PC PDIA3 PGD PGM3 PIK3CA PIK3CB PIK3CD PIK3CG PIP5KL1 PKM PLA2G4A PLPP1 PRKAA2 PRSS21 PTEN PTGS1 PTGS2 RECK SDC1 SDHA SDHD SIRT2 SMUG1 SOAT1 SPHK1 ST3GAL3 ST3GAL4 ST6GAL1 ST6GALNAC5 STS STT3A TIPARP TKT TKTL1 TM7SF2 TNF TNFRSF10C TYMP UGCG VTCN1 XPNPEP2	10038 100507436 1012 10232 10331 10457 10462 1048 10747 10855 1087 10942 1116 11343 126 1312 138429 142 1543 1545 1571 1588 1604 1634 1636 1645 1718 1890 1943 2203 22914 22933 2348 23583 248 250 2539 2597 25976 2651 2719 2720 27306 27349 2817 284348 2877 2878 2923 308 3099 3161 328 3383 3482 353 3554 3556 3703 3897 3939 3956 3958 3965 3988 4051 412 4153 4241 4350 4360 4594 4907 4968 4978 5091 51809 5226 5238 5290 5291 5293 5294 5315 5321 5563 5648 570 57016 5728 5742 5743 60495 6382 6389 6392 6480 6484 6487 6646 7086 7108 7124 7357 7512 79679 80271 811 81849 8277 8434 847 8611 8644 8703 8704 873 8794 8809 8821 8877 8930 9254 9365 952 960 9956	Homo sapiens (human)
DOID:3702	cervical adenocarcinoma Aliases: adenocarcinoma cervix uteri adenocarcinoma of cervix adenocarcinoma of the uterine Cervix	ACE ADH1C AKR1B10 AKR1C3 ALPI ALPP ANXA5 APRT B3GNT3 B4GALT3 CACNA2D2 CALR CAT CD38 CD44 CD55 CDH13 CEACAM5 CEACAM7 CHI3L1 CLEC10A COMT CYP19A1 CYP1A1 CYP1B1 CYP2E1 CYP4F3 DCN DHCR24 EFNA2 FBP1 G6PD GALNT7 GCNT2 GLB1 GPC3 GPNMB GPX2 GPX3 HK2 HMMR HPGDS HPSE2 HPSE HS3ST2 ICAM1 IGF2R IL18R1 IL1R1 IL1RAP INPP4B ITPKC KL KLRK1 L1CAM LDHA LGALS1 LGALS3 LGALS9 LIPA LYPD5 MASP1 MASP2 MBD4 MBL2 MCAT MGLL MICA MMUT MPG MRC1 MSLN NT5E OGG1 OPCML PARP1 PARP2 PC PDIA3 PGD PIK3CA PIK3CB PIK3CD PIK3CG PKM PLA2G4A PLPP1 PRKAA2 PRSS21 PTEN PTGS1 PTGS2 RECK RGN SDC1 SDHA SDHD SIRT2 SMUG1 SOAT1 ST3GAL3 ST3GAL4 ST6GAL1 ST6GALNAC5 STS STT3A TFF1 TKT TKTL1 TM7SF2 TNFRSF10C TP53 UGCG VTCN1 XPNPEP2	10038 100507436 1012 10232 10331 10457 10462 1048 10747 10855 1087 10942 1116 11343 126 1312 142 1543 1545 1571 1588 1604 1634 1636 1718 1943 2203 22914 22933 23583 248 250 2539 2651 2719 2720 27306 27349 284348 2877 2878 2923 308 3099 3161 3383 3482 353 3554 3556 3703 3897 3939 3956 3958 3965 3988 4051 412 4153 4350 4360 4594 4907 4968 4978 5091 51809 5226 5290 5291 5293 5294 5315 5321 5563 5648 57016 5728 5742 5743 60495 6382 6389 6392 6480 6484 6487 6646 7031 7086 7108 7157 7357 7512 79679 80271 811 81849 8277 8434 847 8611 8644 8703 8794 8809 8821 8930 9104 9254 9365 952 960 9956	Homo sapiens (human)
DOID:6713	cerebrovascular disease Aliases: CVA cerebrovascular disorder stroke	ABO ACACA ACAN ACE ACHE ACOT4 ACOT7 ACOX1 ACSM3 ACSS2 ACYP2 ADH1B ADH1C ADPRS AGXT AKR1A1 AKR1B1 ALDH2 ALDH7A1 ALG1 ALOX12 ALOX5 AMACR APRT ARSA ATP6AP2 BCKDHA CALR CAT CD14 CD38 CD44 CD74 CDH13 CEACAM5 CEACAM7 CHAT CHI3L1 CHIT1 CLEC16A CLEC1B COMT CSPG4 CYP11B1 CYP11B2 CYP19A1 CYP1A1 CYP24A1 CYP2B6 CYP2C19 CYP2C8 CYP2C9 CYP2E1 CYP2J2 CYP2R1 CYP3A4 CYP3A5 CYP46A1 CYP4A11 CYP4F2 DCN DHCR24 DLD EBP EFNA5 ENO1 ENO2 ENPP1 ENPP2 EPHX2 FADS1 FADS2 FCGR3B FCN1 FCN2 FUT1 G6PD GAL3ST1 GALNT2 GALNT3 GBE1 GFRA1 GGT1 GLA GLCE GLO1 GLUL GPI GPX1 GPX3 HACD1 HADHA HJV HK2 HPGDS HPSE2 HPSE HSD11B2 HSPG2 ICAM1 IDS IL18R1 IL18RAP IL1R1 IL1RL1 IMPA1 IMPA2 INPP5D INPP5K INPPL1 ISYNA1 ITPK1 KL LCAT LDHC LGALS1 LGALS2 LGALS3 LGALS9 LIPC LPL LTA4H LTC4S MAG MAN2B2 MASP1 MASP2 MBL2 ME1 MGLL MMUT MRC1 MTAP NAAA NAMPT NANS NCAM1 NDUFAB1 NEIL1 NT5E NTNG1 OGG1 OLR1 PARP1 PC PCYT1A PFKFB3 PIK3C2B PIK3CA PIK3CB PIK3CD PIK3CG PKD1L3 PKM PLA2G15 PLA2G1B PLA2G2A PLA2G4A PLA2G6 PLA2G7 PLCG1 PLPP3 PRG3 PRKAA2 PRNP PRSS21 PTEN PTGES PTGIS PTGS1 PTGS2 QTRT1 RENBP RGMB RTN4R SACM1L SCD SDC1 SDC4 SELE SELL SELP SEMA7A SFTPA1 SFTPD SHMT1 SIGLEC7 SIRT2 SIRT6 SLC17A5 SLC2A10 SLC33A1 SLC35A1 SLC39A8 SLC5A1 SMPD1 SMUG1 SOAT1 SPHK2 ST3GAL4 ST8SIA4 STS SULT1E1 TBXAS1 TIGAR TM7SF2 TMED9 TNKS UGCG UGT1A1 UGT2B4 UMOD UNG VCAM1 VCAN XYLB XYLT1 XYLT2	1012 10135 10159 10327 10394 1048 10559 10682 10747 10855 10858 1087 10942 1103 1116 1118 11332 11343 120227 122970 125 126 1312 142 1462 1464 148738 1543 1555 1557 1558 1559 1571 1573 1576 1577 1579 1584 1585 1588 1591 1634 1636 1718 1738 176 189 1946 2023 2026 2053 217 2215 2219 2220 22854 22908 22933 231 23274 23324 23583 23600 23659 239 240 2523 2539 2590 2591 26035 2632 26503 2674 2678 27036 27163 2717 27306 2739 2752 28 2821 285704 2876 2878 3030 3099 31 3291 3339 3383 3423 342372 353 3554 3612 3613 3635 3636 3705 3931 3948 3956 3957 3958 3965 3990 3992 4023 4048 4056 4099 410 412 4153 4199 43 4360 4507 4594 4684 4706 4907 4968 4973 501 5091 51 51266 5130 51477 51548 5167 5168 51763 5209 5287 5290 5291 5293 5294 5315 5319 5320 5321 5335 54187 54658 54732 54936 5563 55902 56052 5621 5648 56848 57103 5728 5740 5742 5743 593 5973 60495 6296 6319 6382 6385 6401 6402 6403 64116 64131 64132 6441 6470 6484 65078 6523 653509 6609 6646 6783 6916 7108 7357 7363 7369 7374 7412 7903 7941 79661 81031 811 81890 8398 847 8482 8529 8613 8658 8807 8809 9173 9197 9200 929 9365 9415 9514 952 9536 960 972 98 9942	Homo sapiens (human)
DOID:4810	cerebrotendinous xanthomatosis Aliases: Cholestanol storage disease	B4GALNT2 CYP27A1 CYP27B1 CYP2B6 CYP3A4 HSD11B1 HSD11B2 PTGDS	124872 1555 1576 1593 1594 3290 3291 5730	Homo sapiens (human)
DOID:0111248	cerebrocostomandibular syndrome Aliases: CCM syndrome CCMS cerebro-costo-mandibular syndrome rib gap defects with micrognathia	COG1	9382	Homo sapiens (human)
DOID:7398	cerebral primitive neuroectodermal tumor Aliases: PNET of Cerebrum	ABO AMACR CD38 CHGA ENO2 HMMR HPGDS MELTF MRC1 PIK3CA PIK3CB PIK3CD PIK3CG PTEN PTGS2 SIGLEC7 UGCG	1113 2026 23600 27036 27306 28 3161 4241 4360 5290 5291 5293 5294 5728 5743 7357 952	Homo sapiens (human)
DOID:1969	cerebral palsy Aliases: infantile cerebral palsy	ACHE ACSM1 ACSM2A ALDH3A2 ALPP ARSA ARSD ATRNL1 CAT CD109 CYP24A1 CYP3A4 EFNA5 GAD1 GCDH GLUL GMDS GPX1 HPRT1 IDH1 IDH2 IDUA MBL2 MECR MRC1 PDHA1 PIK3CA PIK3CB PIK3CD PIK3CG PMM2 PNP PTGS1 PTGS2 RENBP SOAT1 ST3GAL5 TIGAR TKTL1 UGT1A1	116285 123876 135228 1576 1591 1946 224 250 2571 26033 2639 2752 2762 2876 3251 3417 3418 3425 410 414 4153 43 4360 4860 51102 5160 5290 5291 5293 5294 5373 54658 57103 5742 5743 5973 6646 8277 847 8869	Homo sapiens (human)
DOID:14069	cerebral malaria Aliases: Malarial encephalitis	ACE ALOX5 CAT CHI3L1 ENOSF1 FH ICAM1 IL1R1 ISYNA1 LGALS2 MBL2 MPPE1 PNP PRKAA2 PTGS2 SELE	1116 1636 2271 240 3383 3554 3957 4153 4860 51477 55556 5563 5743 6401 65258 847	Homo sapiens (human)
DOID:5815	cerebral lymphoma Aliases: brain primary lymphoma primary Lymphoma of Cerebrum primary cerebral lymphoma	SMUG1	23583	Homo sapiens (human)
DOID:3526	cerebral infarction Aliases: CVA - Cerebral infarction Cerebral infarct	ABO ACACA ACAN ACE ACHE ACOT4 ACOT7 ACOX1 ACSM3 ACSS2 ACYP2 ADH1B ADH1C ADPRS AGXT AKR1A1 AKR1B1 ALDH2 ALDH7A1 ALG1 ALOX12 ALOX5 AMACR APRT ARSA BCKDHA CALR CAT CD14 CD38 CD44 CD74 CDH13 CEACAM5 CEACAM7 CHAT CHI3L1 CHIT1 CLEC16A CLEC1B COMT CSPG4 CYP11B1 CYP11B2 CYP19A1 CYP1A1 CYP24A1 CYP2B6 CYP2C19 CYP2C8 CYP2C9 CYP2E1 CYP2J2 CYP2R1 CYP3A4 CYP3A5 CYP4A11 CYP4F2 DCN DHCR24 DLD EBP EFNA5 ENO1 ENO2 ENPP1 ENPP2 EPHX2 FADS1 FADS2 FCGR3B FCN1 FCN2 FUT1 G6PD GAL3ST1 GALNT2 GALNT3 GBE1 GFRA1 GGT1 GLA GLO1 GLUL GPI GPX1 GPX3 HACD1 HADHA HJV HK2 HPGDS HPSE2 HPSE HSD11B2 HSPG2 ICAM1 IDS IL18R1 IL18RAP IL1R1 IL1RL1 IMPA1 IMPA2 INPP5D INPPL1 ISYNA1 ITPK1 KL LCAT LDHC LGALS1 LGALS2 LGALS3 LGALS9 LIPC LIPG LPL LTA4H LTC4S MAG MAN2B2 MASP1 MASP2 MBL2 ME1 MGLL MMUT MRC1 MTAP NAAA NAMPT NANS NCAM1 NDUFAB1 NEIL1 NT5E NTNG1 OGG1 OLR1 PARP1 PC PCYT1A PDX1 PFKFB3 PIK3C2B PIK3CA PIK3CB PIK3CD PIK3CG PKD1L3 PKM PLA2G15 PLA2G1B PLA2G2A PLA2G4A PLA2G6 PLA2G7 PLCG1 PLPP3 PRG3 PRKAA2 PRNP PRSS21 PTEN PTGES PTGIS PTGS1 PTGS2 QTRT1 RBP4 RENBP RGMB RTN4R SACM1L SCD SDC1 SDC4 SELE SELL SELP SEMA7A SFTPA1 SFTPD SHMT1 SIGLEC7 SIRT2 SIRT6 SLC17A5 SLC2A10 SLC33A1 SLC35A1 SLC39A8 SLC5A1 SMPD1 SMUG1 SOAT1 SPHK2 ST3GAL4 ST8SIA4 STS SULT1E1 TBXAS1 TIGAR TM7SF2 TMED9 TNF TNKS UGCG UGT1A1 UGT2B4 UMOD UNG VCAM1 VCAN XYLB XYLT1 XYLT2	1012 10135 10327 10394 1048 10559 10682 10747 10855 1087 10942 1103 1116 1118 11332 11343 120227 122970 125 126 1312 142 1462 1464 148738 1543 1555 1557 1558 1559 1571 1573 1576 1577 1579 1584 1585 1588 1591 1634 1636 1718 1738 176 189 1946 2023 2026 2053 217 2215 2219 2220 22854 22908 22933 231 23274 23324 23583 23600 23659 239 240 2523 2539 2590 2591 2632 26503 2674 2678 27036 27163 2717 27306 2739 2752 28 2821 285704 2876 2878 3030 3099 31 3291 3339 3383 3423 342372 353 3554 3612 3613 3635 3636 3651 3705 3931 3948 3956 3957 3958 3965 3990 3992 4023 4048 4056 4099 410 412 4153 4199 43 4360 4507 4594 4684 4706 4907 4968 4973 501 5091 51 51266 5130 51477 51548 5167 5168 5209 5287 5290 5291 5293 5294 5315 5319 5320 5321 5335 54187 54658 54732 54936 5563 55902 56052 5621 5648 56848 57103 5728 5740 5742 5743 593 5950 5973 60495 6296 6319 6382 6385 6401 6402 6403 64116 64131 64132 6441 6470 6484 65078 6523 653509 6609 6646 6783 6916 7108 7124 7357 7363 7369 7374 7412 7903 7941 79661 81031 811 81890 8398 847 8482 8529 8613 8658 8807 8809 9173 9197 9200 929 9365 9388 9415 9514 952 9536 960 972 98 9942	Homo sapiens (human)
DOID:0050719	cerebral folate receptor alpha deficiency Aliases: Neurodegeneration due to cerebral folate transport deficiency	FOLR1 FOLR2	2348 2350	Homo sapiens (human)
DOID:1443	cerebral degeneration Aliases: Brain degeneration	ABO ACACA ACADVL ACAT1 ACE ACER3 ACHE ACO1 ACO2 ACOT7 ACOT8 ACSL6 ACSS2 ADH1B ADPRS AGA AGPS AGRN AKR1A1 AKR1C2 AKR1C4 ALDH2 ALDH7A1 ALG11 ALG13 ALG1 ALG3 ALOX12 ALOX5 ALPI ALPP ANXA5 APRT ARSA ASAH1 ATP6AP2 ATP6V1A ATRNL1 B3GALNT2 B3GALT4 B3GAT1 B3GLCT BCAN BST1 CALR CAT CD14 CD177 CD209 CD33 CD38 CD44 CD55 CD74 CDH13 CEACAM5 CEACAM6 CFC1 CH25H CHAT CHI3L1 CHIT1 CLC CLEC16A CLEC1B CLEC7A CLN5 CNTN1 CNTN2 COG1 COG4 COG5 COG6 COG7 COLGALT1 COLGALT2 COMT CPO CPT1A CRYL1 CS CSPG4 CTNS CYP11A1 CYP17A1 CYP19A1 CYP1A2 CYP27A1 CYP2B6 CYP2C9 CYP2J2 CYP3A4 CYP46A1 CYP7B1 CYP8B1 DCN DEGS1 DGKQ DHCR24 DHDDS DHRS11 DLD DLST DPEP2 DSE EDEM2 EFNA5 ENO1 ENO2 ENPP2 EPHX2 EPM2A EXT1 EXT2 FASN FBXO2 FCGR3B FCN2 FDPS FH FOLR2 FUCA1 G6PD GAD1 GAD2 GALNS GAPDH GAPDHS GBA1 GBA2 GFRA1 GGT1 GLB1 GLO1 GLUL GM2A GNE GNPAT GNPDA2 GOLPH3 GPAA1 GPC1 GPC6 GPI GPNMB GPX1 GTDC1 GUSB HAS1 HAS3 HK1 HMGCS2 HPGDS HPSE2 HPSE HS3ST1 HSD11B1 HSD17B1 HSD17B4 HSD17B6 HSD17B7 HSPG2 HYI ICAM1 IDH1 IDH2 IGF2R IL1R1 IL1RAP IL1RL1 IMPA1 INPP5D INPP5K INPPL1 ITPKB KL KLRC1 L1CAM LCAT LCT LDHA LGALS3 LGALS4 LGALS9 LIPA LIPC LIPG LMAN2L LPL LTC4S LYZ LYZL4 MAG MAN1B1 MAN2B1 MASP1 MBL2 MBOAT7 MDH2 MELTF MGAT3 MGLL MICA MMUT MOGAT3 MOGS MPDU1 MPG MPI MRC1 NAAA NAGA NAMPT NANP NANS NCAM1 NDST1 NEU1 NGLY1 NPL NT5E OGA OGDH OGDHL OGG1 OGT OLR1 PAFAH1B2 PARP1 PC PCCA PCCB PCK1 PCYT1A PCYT1B PCYT2 PDHA1 PEMT PFKFB3 PGAP1 PGD PGP PI4KA PIGC PIGG PIGL PIGN PIGT PIGU PIK3C3 PIK3CA PIK3CB PIK3CD PIK3CG PIKFYVE PKM PLA2G15 PLA2G1B PLA2G2A PLA2G4A PLA2G6 PLA2G7 PLAUR PLB1 PLCB1 PLCG2 PLD1 PLD2 PLD3 PLPP4 PMM2 PNP PNPLA2 PNPLA7 PPT1 PRG2 PRKAA2 PRNP PTDSS1 PTEN PTGDS PTGES2 PTGES3 PTGES PTGS1 PTGS2 RENBP RGN RTN4R SCD5 SCD SCP2 SDC2 SDC3 SDCBP2 SFTPA1 SFTPC SGMS2 SGSH SI SIGLEC7 SIRT2 SIRT6 SLC17A5 SLC2A3 SLC2A4 SLC33A1 SLC35A1 SLC35A2 SMPD2 SMPD3 SMUG1 SOAT1 SPHK1 SPHK2 SQLE ST3GAL3 ST3GAL4 ST6GAL1 ST8SIA1 STS SUCLA2 SUCLG1 SUCLG2 SUMF1 SYNJ1 TECR TIGAR TKT TM7SF2 TMED9 TPI1 TUSC3 UGCG UGT1A1 UMOD UNG VCAM1 VCAN	10005 10020 100507436 10082 1012 10135 10159 10195 10327 10400 10457 10466 1048 10559 10724 10728 10855 10858 1103 1109 1116 1118 11253 11332 11343 1178 1203 125 1272 128869 130749 1312 131375 132789 1374 140838 142 1431 145173 1462 1464 148789 1497 151056 1544 1555 1559 1573 1576 1582 1583 1586 1588 1593 1604 1609 1634 1636 1646 166929 1718 1738 1743 175 1946 196051 200576 2023 2026 2053 2131 2132 217 2194 2215 2220 2224 2271 22933 23127 23236 23274 23305 2350 23556 23583 23646 23659 239 240 248 250 2517 2539 2571 2572 25839 2588 2597 26033 26232 2629 26330 26503 2674 2678 27036 27087 27111 27163 2720 27306 2739 2752 2760 28 2817 2821 283871 285362 2876 2990 29940 3036 3038 308 30835 3098 31 3158 3290 3292 3295 3339 3340 3383 3417 3418 346606 3482 353 3554 3556 3612 3635 3636 37 3707 375775 375790 38 3821 3897 3931 3938 3939 3958 3960 3965 3988 3990 4023 4056 4069 4099 410 412 4125 4153 4191 4241 4248 427 43 4350 4351 4360 440138 4594 4668 4680 4684 4758 48 4860 4907 4967 4968 4973 50 501 5049 5091 5095 5096 5105 51084 51266 5130 51478 51548 5160 51604 5168 51763 5209 5226 523 5279 5289 5290 5291 5293 5294 5297 5315 5319 5320 5321 5329 5336 5337 5338 5373 54187 54658 54732 54872 54936 55331 5538 55512 5553 5563 55741 55753 55768 55902 55997 56052 5621 5648 56848 57103 57104 57126 5728 5730 5742 5743 57511 57704 5833 5973 60495 6319 6342 63827 6383 64083 64174 6440 6448 64581 6476 6480 6484 6487 6489 65078 6515 6517 653509 6610 6646 6713 683 6900 7086 7108 7167 7355 7357 7369 7374 7412 7841 79143 79154 7941 7957 79709 79712 79868 7991 79947 79966 80055 80142 80896 811 81562 81888 8398 8443 847 8473 8540 8560 8630 8705 8733 8801 8802 8803 8867 8877 9023 9104 9173 91949 9197 929 9365 9382 9388 9420 945 9468 9487 952 9524 9526 9536 960 9672 972 9791 9957	Homo sapiens (human)
DOID:0050800	cerebral creatine deficiency syndrome 1 Aliases: CEREBRAL CREATINE DEFICIENCY SYNDROME 1 SLC6A8 deficiency creatine transporter deficiency	CALR	811	Homo sapiens (human)
DOID:6114	cerebral convexity meningioma Aliases: Cerebral Hemispheric Convexity meningioma	ALDH1A3 ALOX5 ALPL CD33 CD44 CD55 CYP19A1 CYP1A1 CYP1B1 CYP4F3 DHCR24 ENO2 FASN FCGR3B FOLR1 GAPDH GPX1 HPGDS HPRT1 IL18R1 LARGE1 LGALS1 LGALS3 MMP25 MMUT MSLN MUTYH NT5E NTHL1 OGA PIK3CA PIK3CB PIK3CD PIK3CG PLA2G1B PLA2G2A PLA2G6 PLA2G7 PLAUR PLB1 PTEN PTGDS PTGS1 PTGS2 SDHB SDHC SDHD SMUG1 SOAT1 STS TIPARP TNKS VCAN	10232 10724 1462 151056 1543 1545 1588 1604 1718 2026 2194 220 2215 2348 23583 240 249 2597 25976 27306 2876 3251 3956 3958 4051 412 4594 4595 4907 4913 5290 5291 5293 5294 5319 5320 5329 5728 5730 5742 5743 6390 6391 6392 64386 6646 7941 8398 8658 8809 9215 945 960	Homo sapiens (human)
DOID:0060669	cerebral cavernous malformation Aliases: cavernous angiomatous malformations cerebral capillary malformations familial cavernous angioma	PIK3CA PTEN	5290 5728	Homo sapiens (human)
DOID:0060671	cerebral cavernous malformation 3	SMUG1	23583	Homo sapiens (human)
DOID:0060670	cerebral cavernous malformation 2	SMUG1	23583	Homo sapiens (human)

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