Disease: MORM syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1857802
Disease: MORM syndrome
MORM syndrome 		0.720 Biomarker disease GENOMICS_ENGLAND Whole-exome sequencing identified the likely causes of disease as a novel homozygous frameshift mutation (NM_152384.2: c.196delA; p.(Arg66Glufs*12); family 1) in BBS5, and a nonsense mutation (NM_019892.5:c.1879C>T; p.Gln627*; family 2) in INPP5E, previously reported in an extended Pakistani family with MORM syndrome. 31173343 2019
CUI: C1857802
Disease: MORM syndrome
MORM syndrome 		0.720 GeneticVariation disease BEFREE Whole-exome sequencing identified the likely causes of disease as a novel homozygous frameshift mutation (NM_152384.2: c.196delA; p.(Arg66Glufs*12); family 1) in BBS5, and a nonsense mutation (NM_019892.5:c.1879C>T; p.Gln627*; family 2) in INPP5E, previously reported in an extended Pakistani family with MORM syndrome. 31173343 2019
CUI: C1857802
Disease: MORM syndrome
MORM syndrome 		0.720 Biomarker disease GENOMICS_ENGLAND Evidence of a role of inositol polyphosphate 5-phosphatase INPP5E in cilia formation in zebrafish. 23022135 2012
CUI: C1857802
Disease: MORM syndrome
MORM syndrome 		0.720 GermlineCausalMutation disease ORPHANET In human INPP5E, we identified a mutation affecting INPP5E ciliary localization and cilium stability in a family with MORM syndrome, a condition related to Bardet-Biedl syndrome. 19668215 2009
CUI: C1857802
Disease: MORM syndrome
MORM syndrome 		0.720 Biomarker disease GENOMICS_ENGLAND Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies. 19668216 2009
CUI: C1857802
Disease: MORM syndrome
MORM syndrome 		0.720 GeneticVariation disease BEFREE In human INPP5E, we identified a mutation affecting INPP5E ciliary localization and cilium stability in a family with MORM syndrome, a condition related to Bardet-Biedl syndrome. 19668215 2009
CUI: C1857802
Disease: MORM syndrome
MORM syndrome 		0.720 Biomarker disease GENOMICS_ENGLAND In human INPP5E, we identified a mutation affecting INPP5E ciliary localization and cilium stability in a family with MORM syndrome, a condition related to Bardet-Biedl syndrome. 19668215 2009
CUI: C1857802
Disease: MORM syndrome
MORM syndrome 		0.720 CausalMutation disease CLINVAR
CUI: C1857802
Disease: MORM syndrome
MORM syndrome 		0.720 Biomarker disease CTD_human