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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H01938 | Hypermanganesemia with dystonia | ... disorder of manganese (Mn) homeostasis. Loss-of-function mutations in SLC30A10, a Mn efflux transporter, or SLC39A14, a Mn influx transporter, increase Mn levels in blood and brain, and induce severe neurotoxicity | Hematologic disease |
(HMNDYT1) SLC30A10 [HSA:55532] [KO:K14697] (HMNDYT2) SLC39A14 [HSA:23516] [KO:K14720] |
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| H02239 | Ehlers-Danlos syndrome, spondylodysplastic type | ... is a rare autosomal recessive connective tissue disorder, caused by biallelic B4GALT7, B3GALT6, and SLC39A13 mutations. The majority of EDSSPD patients presented with short stature, skin hyperextensibility ... | Congenital malformation |
(EDSSPD1) B4GALT7 [HSA:11285] [KO:K00733] (EDSSPD2) B3GALT6 [HSA:126792] [KO:K00734] (EDSSPD3) SLC39A13 [HSA:91252] [KO:K14719] |
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