Source: HPO

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 10585
Gene Symbol: POMT1
POMT1 		protein O-mannosyltransferase 1 0.525 0.615 4.2E-17
CUI: C1857353
Disease: Posterior fossa cyst
Posterior fossa cyst 		phenotype 0.100 None 0 0
Entrez Id: 10585
Gene Symbol: POMT1
POMT1 		protein O-mannosyltransferase 1 0.525 0.615 4.2E-17
CUI: C1847117
Disease: Dilated fourth ventricle
Dilated fourth ventricle 		phenotype 0.100 None 0 0
Entrez Id: 10585
Gene Symbol: POMT1
POMT1 		protein O-mannosyltransferase 1 0.525 0.615 4.2E-17
CUI: C1846674
Disease: Thigh hypertrophy
Thigh hypertrophy 		phenotype 0.100 None 0 0
Entrez Id: 10585
Gene Symbol: POMT1
POMT1 		protein O-mannosyltransferase 1 0.525 0.615 4.2E-17
CUI: C1843700
Disease: Increased variability in muscle fiber diameter
Increased variability in muscle fiber diameter 		phenotype 0.100 None 0 0
Entrez Id: 10585
Gene Symbol: POMT1
POMT1 		protein O-mannosyltransferase 1 0.525 0.615 4.2E-17
CUI: C1843697
Disease: Axial muscle weakness
Axial muscle weakness 		phenotype 0.100 None 0 0
Entrez Id: 10585
Gene Symbol: POMT1
POMT1 		protein O-mannosyltransferase 1 0.525 0.615 4.2E-17
CUI: C1843057
Disease: Calf muscle hypertrophy
Calf muscle hypertrophy 		phenotype 0.100 None 0 0
Entrez Id: 10585
Gene Symbol: POMT1
POMT1 		protein O-mannosyltransferase 1 0.525 0.615 4.2E-17
CUI: C1842688
Disease: Hypoplasia of the brainstem
Hypoplasia of the brainstem 		phenotype 0.100 None 0 0
Entrez Id: 10585
Gene Symbol: POMT1
POMT1 		protein O-mannosyltransferase 1 0.525 0.615 4.2E-17
CUI: C1842552
Disease: Limb-girdle muscle atrophy
Limb-girdle muscle atrophy 		disease 0.100 None 0 0
Entrez Id: 10585
Gene Symbol: POMT1
POMT1 		protein O-mannosyltransferase 1 0.525 0.615 4.2E-17
CUI: C1842170
Disease: Centrally nucleated skeletal muscle fibers
Centrally nucleated skeletal muscle fibers 		phenotype 0.100 None 0 0
Entrez Id: 10585
Gene Symbol: POMT1
POMT1 		protein O-mannosyltransferase 1 0.525 0.615 4.2E-17
CUI: C1840379
Disease: Cerebellar vermis hypoplasia
Cerebellar vermis hypoplasia 		phenotype 0.100 None 0 0
Entrez Id: 10585
Gene Symbol: POMT1
POMT1 		protein O-mannosyltransferase 1 0.525 0.615 4.2E-17
CUI: C1847762
Disease: Cerebellar cyst
Cerebellar cyst 		phenotype 0.100 None 0 0
Entrez Id: 10585
Gene Symbol: POMT1
POMT1 		protein O-mannosyltransferase 1 0.525 0.615 4.2E-17
CUI: C1848207
Disease: Poor speech
Poor speech 		phenotype 0.100 None 0 0
Entrez Id: 10585
Gene Symbol: POMT1
POMT1 		protein O-mannosyltransferase 1 0.525 0.615 4.2E-17
CUI: C1855285
Disease: Protruding ear
Protruding ear 		phenotype 0.100 None 0 0
Entrez Id: 10585
Gene Symbol: POMT1
POMT1 		protein O-mannosyltransferase 1 0.525 0.615 4.2E-17
CUI: C1854882
Disease: Absent speech
Absent speech 		phenotype 0.100 None 0 0
Entrez Id: 10585
Gene Symbol: POMT1
POMT1 		protein O-mannosyltransferase 1 0.525 0.615 4.2E-17
CUI: C1854494
Disease: Slow progression
Slow progression 		phenotype 0.100 None 0 0
Entrez Id: 10585
Gene Symbol: POMT1
POMT1 		protein O-mannosyltransferase 1 0.525 0.615 4.2E-17
CUI: C1854387
Disease: Type 1 muscle fiber predominance
Type 1 muscle fiber predominance 		phenotype 0.100 None 0 0
Entrez Id: 10585
Gene Symbol: POMT1
POMT1 		protein O-mannosyltransferase 1 0.525 0.615 4.2E-17
CUI: C1854301
Disease: Motor delay
Motor delay 		phenotype 0.100 None 0 0
Entrez Id: 10585
Gene Symbol: POMT1
POMT1 		protein O-mannosyltransferase 1 0.525 0.615 4.2E-17
CUI: C1853377
Disease: Enlarged cisterna magna
Enlarged cisterna magna 		phenotype 0.100 None 0 0
Entrez Id: 10585
Gene Symbol: POMT1
POMT1 		protein O-mannosyltransferase 1 0.525 0.615 4.2E-17
CUI: C1852534
Disease: Hypoplastic male external genitalia
Hypoplastic male external genitalia 		phenotype 0.100 None 0 0
Entrez Id: 10585
Gene Symbol: POMT1
POMT1 		protein O-mannosyltransferase 1 0.525 0.615 4.2E-17
CUI: C1850794
Disease: Proximal amyotrophy
Proximal amyotrophy 		disease 0.100 None 0 0
Entrez Id: 10585
Gene Symbol: POMT1
POMT1 		protein O-mannosyltransferase 1 0.525 0.615 4.2E-17
CUI: C1849097
Disease: Loss of ability to walk
Loss of ability to walk 		phenotype 0.100 None 0 0
Entrez Id: 10585
Gene Symbol: POMT1
POMT1 		protein O-mannosyltransferase 1 0.525 0.615 4.2E-17
CUI: C1839666
Disease: Calf muscle pseudohypertrophy
Calf muscle pseudohypertrophy 		phenotype 0.100 None 0 0
Entrez Id: 10585
Gene Symbol: POMT1
POMT1 		protein O-mannosyltransferase 1 0.525 0.615 4.2E-17
CUI: C1839630
Disease: Severe muscular hypotonia
Severe muscular hypotonia 		phenotype 0.100 None 0 0
Entrez Id: 10585
Gene Symbol: POMT1
POMT1 		protein O-mannosyltransferase 1 0.525 0.615 4.2E-17
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		group 0.100 None 0 0
Entrez Id: 10585
Gene Symbol: POMT1
POMT1 		protein O-mannosyltransferase 1 0.525 0.615 4.2E-17
CUI: C0850703
Disease: Frequent falls
Frequent falls 		phenotype 0.100 None 0 0