MAB21L1, mab-21 like 1, 4081

N. diseases: 35; N. variants: 0
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0266470
Disease: Cerebellar Hypoplasia
Cerebellar Hypoplasia
0.400 Biomarker disease GENOMICS_ENGLAND MAB21L1 loss of function causes a syndromic neurodevelopmental disorder with distinctive cerebellar, ocular, craniofacial and genital features (COFG syndrome). 30487245 2019
CUI: C0266470
Disease: Cerebellar Hypoplasia
Cerebellar Hypoplasia
0.400 Biomarker disease HPO
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
0.300 Biomarker disease GENOMICS_ENGLAND MAB21L1 loss of function causes a syndromic neurodevelopmental disorder with distinctive cerebellar, ocular, craniofacial and genital features (COFG syndrome). 30487245 2019
CUI: C0744356
Disease: Abnormality of the genital system
Abnormality of the genital system
0.300 Biomarker phenotype GENOMICS_ENGLAND MAB21L1 loss of function causes a syndromic neurodevelopmental disorder with distinctive cerebellar, ocular, craniofacial and genital features (COFG syndrome). 30487245 2019
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.300 Biomarker group GENOMICS_ENGLAND MAB21L1 loss of function causes a syndromic neurodevelopmental disorder with distinctive cerebellar, ocular, craniofacial and genital features (COFG syndrome). 30487245 2019
CUI: C4316870
Disease: Abnormality of the eye
Abnormality of the eye
0.300 Biomarker phenotype GENOMICS_ENGLAND MAB21L1 loss of function causes a syndromic neurodevelopmental disorder with distinctive cerebellar, ocular, craniofacial and genital features (COFG syndrome). 30487245 2019
CUI: C0001807
Disease: Aggressive behavior
Aggressive behavior
0.100 Biomarker phenotype HPO
CUI: C0010964
Disease: Dandy-Walker Syndrome
Dandy-Walker Syndrome
0.100 Biomarker disease HPO
CUI: C0019572
Disease: Hirsutism
Hirsutism
0.100 Biomarker phenotype HPO
CUI: C0020302
Disease: Hydrophthalmos
Hydrophthalmos
0.100 Biomarker disease HPO
CUI: C0022575
Disease: Keratoconjunctivitis Sicca
Keratoconjunctivitis Sicca
0.100 Biomarker disease HPO
CUI: C0035304
Disease: Retinal Degeneration
Retinal Degeneration
0.100 Biomarker phenotype HPO
CUI: C0038379
Disease: Strabismus
Strabismus
0.100 Biomarker disease HPO
CUI: C0239234
Disease: Low set ears
Low set ears
0.100 Biomarker disease HPO
CUI: C0271385
Disease: Horizontal Nystagmus
Horizontal Nystagmus
0.100 Biomarker disease HPO
CUI: C0426320
Disease: Absent scrotum
Absent scrotum
0.100 Biomarker disease HPO
CUI: C0431447
Disease: Synophrys
Synophrys
0.100 Biomarker disease HPO
CUI: C0431478
Disease: Posteriorly rotated ear
Posteriorly rotated ear
0.100 Biomarker disease HPO
CUI: C0751837
Disease: Gait Ataxia
Gait Ataxia
0.100 Biomarker phenotype HPO
CUI: C1142533
Disease: Smooth philtrum
Smooth philtrum
0.100 Biomarker phenotype HPO
CUI: C1827524
Disease: Wide spaced nipples
Wide spaced nipples
0.100 Biomarker phenotype HPO
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril
0.100 Biomarker phenotype HPO
CUI: C1842366
Disease: Low anterior hairline
Low anterior hairline
0.100 Biomarker phenotype HPO
CUI: C1846176
Disease: Hyperactive deep tendon reflexes
Hyperactive deep tendon reflexes
0.100 Biomarker phenotype HPO
CUI: C1853738
Disease: Long eyelashes
Long eyelashes
0.100 Biomarker phenotype HPO