Human | KRTAP5-1 | 387264 | | INFERRED, Score=800, UMLKSK CUI: C0020757 |
Human | SUMF1 | 285362 | sulfatase modifying factor 1 | |
Human | NEWENTRY | 192343 | Record to support submission of GeneRIFs for a gene not in Gene (human; man). | presented a novel form of ichthyosis in a patient, termed hepoxilin A(3) synthase-linked ichthyosis (HXALI), whose scales expressed high levels of 12R-LOX, but were deficient of HXA(3) synthase [hepoxilin A3 synthase] |
Human | ATOD5 | 117188 | Dermatitis, atopic, 5 | |
Human | ATOD3 | 117187 | Dermatitis, atopic, 3 | |
Human | ATOD6 | 114477 | Dermatitis, atopic, 6 | |
Human | ALOXE3 | 59344 | arachidonate lipoxygenase 3 | INFERRED, Score=800, UMLKSK CUI: C0020757 |
Human | SLURP1 | 57152 | secreted LY6/PLAUR domain containing 1 | |
Human | PNPLA2 | 57104 | patatin-like phospholipase domain containing 2 | Neutral lipid storage disease subgroup characterized by mild myopathy, absence of ichthyosis and mutations in both alleles of adipose triglyceride lipase |
Human | ABHD5 | 51099 | abhydrolase domain containing 5 | INFERRED, Score=800, UMLKSK CUI: C0020757 |
Human | NSDHL | 50814 | NAD(P) dependent steroid dehydrogenase-like | INFERRED, Score=800, UMLKSK CUI: C0020757 |
Human | VPS33B | 26276 | vacuolar protein sorting 33 homolog B (yeast) | The present observations indicate that VPS33B deficiency results in abnormal secretion of lamellar granules, which underlies ichthyosis in ARC syndrome |
Human | ABCA12 | 26154 | ATP-binding cassette, sub-family A (ABC1), member 12 | INFERRED, Score=800, UMLKSK CUI: C0020757 |
Human | DOLK | 22845 | dolichol kinase | |
Human | EBP | 10682 | emopamil binding protein (sterol isomerase) | |
Human | SNAP29 | 9342 | synaptosomal-associated protein, 29kDa | a SNAP29 mutation codes for a SNARE protein involved in intracellular trafficking and causes a novel neurocutaneous syndrome characterized by cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma |
Human | TGM5 | 9333 | transglutaminase 5 | transglutaminase 5 contributes, as a secondary effect, to the hyperkeratotic phenotype in ichthyosis (both vulgaris and lamellar) and in psoriasis |
Human | TGM1 | 7051 | transglutaminase 1 | INFERRED, Score=800, UMLKSK CUI: C0020757 |
Human | ST14 | 6768 | suppression of tumorigenicity 14 (colon carcinoma) | mutation in the ST14 gene is associated with recessive autosomal ichthyosis with hypotrichosis |
Human | MAP2K2 | 5605 | mitogen-activated protein kinase kinase 2 | |
Human | PHYH | 5264 | phytanoyl-CoA 2-hydroxylase | |
Human | PEX7 | 5191 | peroxisomal biogenesis factor 7 | |
Human | KRT10 | 3858 | keratin 10 | Icthyosis of scalp and flexural areas |
Human | KRT2 | 3849 | keratin 2 | novel H1 domain mutation in a family with icthyosis bullosa Siemens |
Human | KRT1 | 3848 | keratin 1 | Icthyosis of scalp and flexural areas |