SHH, sonic hedgehog signaling molecule, 6469

N. diseases: 303; N. variants: 44
Disease: MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 5 (disorder) ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1968843
Disease: MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 5 (disorder)
MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 5 (disorder) 		0.500 Biomarker disease GENOMICS_ENGLAND Single-nucleotide variants in two Hedgehog genes, SHH and HHIP, as genetic cause of combined pituitary hormone deficiency. 22897141 2013
CUI: C1968843
Disease: MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 5 (disorder)
MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 5 (disorder) 		0.500 Biomarker disease GENOMICS_ENGLAND Previously undescribed nonsense mutation in SHH caused autosomal dominant holoprosencephaly with wide intrafamilial variability. 12567406 2003
CUI: C1968843
Disease: MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 5 (disorder)
MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 5 (disorder) 		0.500 Biomarker disease GENOMICS_ENGLAND Novel mutation in sonic hedgehog in non-syndromic colobomatous microphthalmia. 12503095 2003
CUI: C1968843
Disease: MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 5 (disorder)
MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 5 (disorder) 		0.500 Biomarker disease CTD_human