Human | LIPH | 200879 | lipase, member H | individuals with an inherited form of hair loss and a hair growth defect were homozygous for a deletion in the LIPH gene on chromosome 3q27; results suggest that lipase H participates in hair growth and development |
Human | FCRL3 | 115352 | Fc receptor-like 3 | INFERRED, Score=800, UMLKSK CUI: C0002170 |
Human | DCAF17 | 80067 | DDB1 and CUL4 associated factor 17 | Mutations in C2orf37, encoding a nucleolar protein, cause hypogonadism, alopecia, diabetes mellitus, mental retardation, and extrapyramidal syndrome |
Human | DCLRE1C | 64421 | DNA cross-link repair 1C | |
Human | MCCC2 | 64087 | methylcrotonoyl-CoA carboxylase 2 (beta) | |
Human | SLC39A4 | 55630 | solute carrier family 39 (zinc transporter), member 4 | |
Human | RBM28 | 55131 | RNA binding motif protein 28 | A loss-of-function mutation is found in RBM28, encoding a nucleolar protein in patients with alopecia, progressive neurological defects, and endocrinopathy (ANE syndrome) |
Human | SOX18 | 54345 | SRY (sex determining region Y)-box 18 | Normal scalp hair at birth, then progressive hair loss |
Human | IL1F5 | 26525 | interleukin 36 receptor antagonist | INFERRED, Score=800, UMLKSK CUI: C0002170 |
Human | TINF2 | 26277 | TERF1 (TRF1)-interacting nuclear factor 2 | |
Human | PSIP1 | 11168 | PC4 and SFRS1 interacting protein 1 | INFERRED, Score=800, UMLKSK CUI: C0002170 |
Human | GJB6 | 10804 | gap junction protein, beta 6, 30kDa | Focal alopecia to complete baldness (males) |
Human | EBP | 10682 | emopamil binding protein (sterol isomerase) | |
Human | TNFSF13B | 10673 | tumor necrosis factor (ligand) superfamily, member 13b | INFERRED, Score=800, UMLKSK CUI: C0002170 |
Human | FST | 10468 | follistatin | Increased frequency of early baldness or excessive hairiness in male first-degree relatives |
Human | RECQL4 | 9401 | RecQ protein-like 4 | |
Human | TNFSF13 | 8741 | tumor necrosis factor (ligand) superfamily, member 13 | INFERRED, Score=800, UMLKSK CUI: C0002170 |
Human | TP63 | 8626 | tumor protein p63 | Premature scalp hair loss (>30 years) |
Human | OFD1 | 8481 | oral-facial-digital syndrome 1 | |
Human | FOXN1 | 8456 | forkhead box N1 | Mutation of the FOXN1 gene is associated with congenital severe combined immunodeficiency associated with alopecia |
Human | KDM5C | 8242 | lysine (K)-specific demethylase 5C | INFERRED, Score=800, UMLKSK CUI: C0002170 |
Human | ALMS1 | 7840 | Alstrom syndrome 1 | |
Human | VDR | 7421 | vitamin D (1,25- dihydroxyvitamin D3) receptor | Alopecia appears within 12 months of age and is permanent This is the first report of the association between vitamin D-resistant rickets, alopecia, and type 1 diabetes in a child with compound heterozygous mutations in the VDR gene A novel mutation in helix 12 of this receptor impairs coactivator interaction and causes hereditary 1,25-dihydroxyvitamin D-resistant rickets without alopecia Alopecia, complete, in majority of patients |
Human | UROS | 7390 | uroporphyrinogen III synthase | |
Human | TERT | 7015 | telomerase reverse transcriptase | |