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GlyCosmos Diseases

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

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

Displaying entries **3151 - 3175** of **7942** in total

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Disease ID	Disease Name ▼	Gene Symbol	Gene ID	Organism
DOID:1459	hypothyroidism Aliases: Thyroid deficiency Thyroid insufficiency	cs plod3	322339 556077	Danio rerio (zebrafish)
DOID:1459	hypothyroidism Aliases: Thyroid deficiency Thyroid insufficiency	cs plod3	550067 734090	Xenopus tropicalis (tropical clawed frog)
DOID:1459	hypothyroidism Aliases: Thyroid deficiency Thyroid insufficiency	C14B9.8 cts-1	176149 176437	Caenorhabditis elegans
DOID:1931	hypothalamic disease	AMY1A AMY1B AMY1C APRT CAT CYP17A1 CYP19A1 HPGDS L1CAM PIK3CA PIK3CB PIK3CD PIK3CG PRNP	1586 1588 27306 276 277 278 353 3897 5290 5291 5293 5294 5621 847	Homo sapiens (human)
DOID:10892	hypospadias Aliases: familial hypospadias	ALG12 ARSD B3GLCT CD44 COG1 COMT CYP11A1 CYP17A1 CYP19A1 CYP1A1 CYP1B1 CYP21A2 CYP27B1 DGKK DHCR7 DHRS11 FIG4 HSD17B3 HSD17B7 HSD3B2 LFNG OGT PIGN PIK3CA PIK3CB PIK3CG PLA2G15 PTDSS1 SMC3 SRD5A1 SRD5A2	1312 139189 145173 1543 1545 1583 1586 1588 1589 1594 1717 23556 23659 3284 3293 3955 414 51478 5290 5291 5294 6715 6716 79087 79154 8473 9126 9382 960 9791 9896	Homo sapiens (human)
DOID:9955	hypoplastic left heart syndrome	ACE ACSS2 B3GLCT MGAT4A PKD1L2	11320 114780 145173 1636 55902	Homo sapiens (human)
DOID:9406	hypopituitarism Aliases: Pituitary insufficiency pituitary hormone deficiency	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:0050336	hypophosphatemia	ACOT8 ALDOB ALG13 CTNS CYP27B1 CYP2R1 ENPP1 KL NAMPT OCRL SLC2A2 SUCLG1	10005 10135 120227 1497 1594 229 4952 5167 6514 79868 8802 9365	Homo sapiens (human)
DOID:14213	hypophosphatasia Aliases: deficiency of alkaline phosphatase	ALDH7A1 ALPL ALPP ATRNL1 PIGT	249 250 26033 501 51604	Homo sapiens (human)
DOID:8533	hypopharynx cancer Aliases: Hypopharyngeal cancer malignant Hypopharyngeal tumor malignant neoplasm of hypopharynx malignant tumor of hypopharynx malignant tumour of hypopharynx	ACACB ADH1B AKR1A1 ALDH2 CALR CD44 CYP1A1 GAPDH SMUG1	10327 125 1543 217 23583 2597 32 811 960	Homo sapiens (human)
DOID:0060878	hypoparathyroidism-deafness-renal disease syndrome Aliases: Barakat syndrome HDR syndrome hypoparathyroidism, sensorineural deafness, and renal disease	DGCR2 PARP1 STS	142 412 9993	Homo sapiens (human)
DOID:11199	hypoparathyroidism	ADH1A AGA APRT ASAH1 COMT CYP27B1 CYP2R1 DGCR2 HADHA HADHB ST8SIA4 STS	120227 124 1312 1594 175 3030 3032 353 412 427 7903 9993	Homo sapiens (human)
DOID:0060786	hypomyelinating leukodystrophy Aliases: HLD	DEGS1	8560	Homo sapiens (human)
DOID:0060791	hypomyelinating leukodystrophy 9 Aliases: HLD9 RARS-related autosomal recessive hypomyelinating leukodystrophy	GBA1	2629	Homo sapiens (human)
DOID:0060798	hypomyelinating leukodystrophy 6 Aliases: H-ABC HABC HLD6 hypomyelinating leukodystrophy with atrophy of the basal ganglia and cerebellum hypomyelination with atrophy of basal ganglia and cerebellum	GBA1	2629	Homo sapiens (human)
DOID:0060789	hypomyelinating leukodystrophy 4 Aliases: HLD4 MitCHAP60 disease Pelizaeus-Merzbacher-like disease due to HSPD1 mutation mitochondrial HSP60 chaperonopathy	GBA1	2629	Homo sapiens (human)
DOID:0060790	hypomyelinating leukodystrophy 3 Aliases: HLD3 Pelizaeus-Merzbacher-like disease due to AIMP1 mutation	GBA1	2629	Homo sapiens (human)
DOID:0070403	hypomyelinating leukodystrophy 26 Aliases: HLD26	sll	42115	Drosophila melanogaster (fruit fly)
DOID:0070403	hypomyelinating leukodystrophy 26 Aliases: HLD26	SLC35B2	347734	Homo sapiens (human)
DOID:0060787	hypomyelinating leukodystrophy 2 Aliases: HLD2 PMLD1 Pelizaeus-Merzbacher-like disease 1 Pelizaeus-Merzbacher-like disease due to GJC2 mutation	GBA1 PI4KA	2629 5297	Homo sapiens (human)
DOID:0070399	hypomyelinating leukodystrophy 18 Aliases: HLD18	DEGS1	8560	Homo sapiens (human)
DOID:3156	hypomelanosis of Ito Aliases: Bloch-Siemans syndrome Incontinentia pigmenti achromians syndrome Ito's nevus incontinentia pigmenti achromians nevus of Ito	ACACA CD38 CEL CHIT1 CLEC7A COLEC11 CYP1B1 CYP51A1 G6PD IL1R1 MASP1 MPG NSDHL PARP9 SFTPD SLC27A5 SMUG1	1056 10998 1118 1545 1595 23583 2539 31 3554 4350 50814 5648 6441 64581 78989 83666 952	Homo sapiens (human)
DOID:1387	hypolipoproteinemia Aliases: Hypolipoproteinaemia	EFNA5 GPLD1 HADHA HADHB HSD11B1 HSPG2 IL18R1 LCAT LGALS1 LPL PIK3C2A PLA2G10 PLA2G2A PLA2G7 ST8SIA4	1946 2822 3030 3032 3290 3339 3931 3956 4023 5286 5320 7903 7941 8399 8809	Homo sapiens (human)
DOID:14452	hypokalemic periodic paralysis Aliases: Hypokalemic familial periodic paralysis Periodic paralysis I Westphal disease familial hypokalemic periodic paralysis periodic hypokalemic paralysis	PRKAA2	5563	Homo sapiens (human)
DOID:4500	hypokalemia Aliases: hypopotassemia potassium deficiency disorder	Akr1b1	11677	Mus musculus (house mouse)

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