HEPHL1, hephaestin like 1, 341208

N. diseases: 21; N. variants: 0
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1849811
Disease: Pili torti developmental delay neurological abnormalities
Pili torti developmental delay neurological abnormalities 		0.300 GeneticVariation phenotype UNIPROT Biallelic HEPHL1 variants impair ferroxidase activity and cause an abnormal hair phenotype. 31125343 2019
CUI: C0263485
Disease: Clastothrix
Clastothrix 		0.110 GeneticVariation disease BEFREE Here we report a child with compound heterozygous mutations in HEPHL1 (NM_001098672) who presented with abnormal hair (pili torti and trichorrhexis nodosa) and cognitive dysfunction. 31125343 2019
CUI: C0263485
Disease: Clastothrix
Clastothrix 		0.110 Biomarker disease HPO
CUI: C0026266
Disease: Mitral Valve Insufficiency
Mitral Valve Insufficiency 		0.100 Biomarker phenotype HPO
CUI: C0039075
Disease: Syndactyly
Syndactyly 		0.100 Biomarker disease HPO
CUI: C0040961
Disease: Tricuspid Valve Insufficiency
Tricuspid Valve Insufficiency 		0.100 Biomarker disease HPO
CUI: C0086437
Disease: Joint laxity
Joint laxity 		0.100 Biomarker phenotype HPO
CUI: C0240340
Disease: Microdontia (disorder)
Microdontia (disorder) 		0.100 Biomarker disease HPO
CUI: C0263491
Disease: Pili Torti
Pili Torti 		0.100 Biomarker phenotype HPO
CUI: C0263523
Disease: Micronychia (disorder)
Micronychia (disorder) 		0.100 Biomarker phenotype HPO
CUI: C0265610
Disease: Clinodactyly of fingers
Clinodactyly of fingers 		0.100 Biomarker disease HPO
CUI: C0332606
Disease: Elfin facies
Elfin facies 		0.100 Biomarker phenotype HPO
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.100 Biomarker disease HPO
CUI: C1832446
Disease: Sparse eyebrow
Sparse eyebrow 		0.100 Biomarker phenotype HPO
CUI: C1848207
Disease: Poor speech
Poor speech 		0.100 Biomarker phenotype HPO
CUI: C1855478
Disease: Increased carrying angle
Increased carrying angle 		0.100 Biomarker phenotype HPO
CUI: C1856963
Disease: Fragile nails
Fragile nails 		0.100 Biomarker phenotype HPO
CUI: C4025296
Disease: Brittle scalp hair
Brittle scalp hair 		0.100 Biomarker phenotype HPO
CUI: C4551485
Disease: Clinodactyly
Clinodactyly 		0.100 Biomarker disease HPO
CUI: C0018500
Disease: Hair Diseases
Hair Diseases 		0.010 AlteredExpression group BEFREE These results enhance our understanding of the function of HEPHL1 and implicate altered ferroxidase activity in hair growth and hair disorders. 31125343 2019
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		0.010 GeneticVariation disease BEFREE Here we report a child with compound heterozygous mutations in HEPHL1 (NM_001098672) who presented with abnormal hair (pili torti and trichorrhexis nodosa) and cognitive dysfunction. 31125343 2019
CUI: C1608408
Disease: Malignant transformation
Malignant transformation 		0.010 Biomarker phenotype BEFREE MiRNA-mRNA network and mRNA-mRNA network analysis showed that hsa-miR-320a, hsa-miR-331-3p, hsa-miR-26a-5p, hsa-miR-196a-5p, hsa-miR-221-3p, coiled-coil domain containing 180 (CCDC180), melanoma antigen gene family member D1 (MAGED1), membrane spanning 4-domains A7 (MS4A7), hephaestin like 1 (HEPHL1), BH3 (Bcl-2 homology 3)-like motif containing, cell death inducer (BLID), matrix metallopeptidase 13 (MMP13), guanylate binding protein 5 (GBP5), adipogenesis regulatory factor (ADIRF), formin homology 2 domain containing 1 (FHDC1), protein kinase CAMP-dependent type II regulatory subunit beta (PRKAR2B), nodium leak channel, non-selective (NALCN), myosin light chain kinase 3 (MYLK3), epidermal growth factor receptor (EGFR) and zinc finger protein 704 (ZNF704) were key miRNAs and genes in the malignant transformation induced by MC-LR in L02 cells. 29518473 2018