GlyCosmos Portal

Source	Last Updated
Alliance of Genome Resources	October 9, 2024
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **151 - 175** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source
DOID:83	cataract	ADAM10 AKR1B1 ALDH18A1 ANXA1 B2M BCOR BRCA2 CASP9 CAT CCK CCL11 CDKN1B CRIM1 CRYAA CRYAB CTH DNASE2B FAS FDFT1 G6PD GALK1 GCLC GCNT2 GPX1 HSF4 INTS1 LIM2 LSS MAP2K1 MMP3 NFE2L2 NR3C1 OGG1 PIK3C2A PIKFYVE PON1 PSMC3 RBM24 SIPA1L3 SLC2A14 SLC2A3 SLC45A2 SLC9A1 SOD1 SORD TRPM3 VPS13B WFS1	102 1027 1409 1410 144195 1491 157680 200576 221662 2222 23094 231 2539 2584 26173 2651 2729 2876 2908 301 3299 355 3982 4047 4314 4780 4968 51151 51232 5286 5444 54880 5604 567 5702 5832 58511 6356 6515 6548 6647 6652 675 7466 80036 842 847 885	Homo sapiens (human)	Alliance of Genome Resources
DOID:8725	vascular dementia Aliases: Multi Infarct Dementia multifocal dementia	fgfr1 pon2	448598 548648	Xenopus tropicalis (tropical clawed frog)	Alliance of Genome Resources
DOID:5223	infertility	csf1ra	64274	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:0060285	parietal foramina Aliases: Caitlin marks enlarged parietal foramina hereditary cranium bifidum	ALX4	60529	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060639	permanent neonatal diabetes mellitus Aliases: PDMI PNDM permanent diabetes mellitus of infancy	ABCC8 GCK INS KCNJ11	2645 3630 3767 6833	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110415	retinitis pigmentosa 2 Aliases: RP2	ARL3	403	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080415	developmental and epileptic encephalopathy 23 Aliases: DEE23 Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome Epilepsy-cortical blindness-intellectual disability-facial dysmorphism syndrome early infantile epileptic encephalopathy 23	DOCK7	85440	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090093	hypogonadotropic hypogonadism 21 with or without anosmia	Flrt3	366205	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:1800	neuroendocrine carcinoma	enol-1	174423	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0110146	Bartter disease type 4b Aliases: BARTS4B Bartter syndrome, type 4b, digenic neonatal Bartter syndrome type 4B with sensorineural deafness	Clcnkb	79430	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0110144	Bartter disease type 3 Aliases: BARTS3 Bartter syndrome type 3 classic Bartter syndrome	CLCNKB	1188	Homo sapiens (human)	Alliance of Genome Resources
DOID:856	biotinidase deficiency Aliases: BTD deficiency Juvenile-onset multiple carboxylase deficiency Late-onset multiple carboxylase deficiency deficiency of biotinidase	Btd	26363	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:9513	plasma cell leukemia Aliases: plasma cell leukaemia plasmacytic leukaemia plasmacytic leukemia	Cd40	21939	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:3526	cerebral infarction Aliases: CVA - Cerebral infarction Cerebral infarct	ace pon1	447803 565980	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:0014667	disease of metabolism Aliases: metabolic disease	ADRB2 BAAT DLD HSPA8 INS LDHA LDHAL6A LDHAL6B LDHB LDHC NBN PDHA1 PDHA2 PFKL PFKM PFKP PKLR PKM PTEN PTPN11 RHEB SREBF1 TJP2 YTHDF1 YTHDF2 YTHDF3	154 160287 1738 253943 3312 3630 3939 3945 3948 4683 51441 5160 5161 5211 5213 5214 5313 5315 54915 570 5728 5781 6009 6720 92483 9414	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111139	mitochondrial complex III deficiency	Uqcrfs1	291103	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0080554	congenital disorder of glycosylation Ib Aliases: congenital disorder of glycosylation 1b	PMI40	856720	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0090070	hypogonadotropic hypogonadism Aliases: congenital idiopathic hypogonadotropic hypogonadism hypogonadotropism isolated congenital gonadotropin deficiency	NDNF TCF12	6938 79625	Homo sapiens (human)	Alliance of Genome Resources
DOID:13270	erythropoietic protoporphyria Aliases: EPP Protoporphyria	Abcg2	312382	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:12132	granulomatosis with polyangiitis Aliases: Necrotizing respiratory granulomatosis Wegener granulomatosis, formerly	Ccr5 Cd40lg Il10	117029 25325 84349	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0060836	isolated microphthalmia 4 Aliases: MCOP4	Gdf6	252834	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:14018	alcoholic liver cirrhosis Aliases: Alcoholic Cirrhosis Alcoholic cirrhosis of liver Laennec's cirrhosis Laennec's cirrhosis, alcoholic Portal cirrhosis	ALDH2 CYP2E1 DDR1 DDR2 GABRG2 IL18BP LEP MMP13 NR1D1 PLAU SERPINE1 SERPINF1 SOD2 TG TLR9	10068 1571 217 2566 3952 4322 4921 5054 5176 5328 54106 6648 7038 780 9572	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110274	autosomal recessive limb-girdle muscular dystrophy	lam-3	172952	Caenorhabditis elegans	Alliance of Genome Resources
DOID:10941	intracranial aneurysm Aliases: brain aneurysm	W01F3.2 cpi-1 cpr-3 cpr-4 cpr-6 cri-2 pkd-2 timp-1 zmp-2 zmp-4	175383 177372 178424 179053 179197 179199 179991 180033 180351 180931	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0111136	congenital generalized lipodystrophy type 2 Aliases: Berardinelli-Seip congenital lipodystrophy type 2 Berardinelli-Seip syndrome Brunzell syndrome BSCL2-related CGL2 congenital lipoatrophic diabetes total lipodystrophy and acromegaloid gigantism	BSCL2 PPARG	26580 5468	Homo sapiens (human)	Alliance of Genome Resources

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