PLXND1, plexin D1, 23129

N. diseases: 73; N. variants: 4
Source: ALL
Disease Type Disease Class Semantic Type N. genes d N. SNPs d Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
CUI: C0221060
Disease: Mobius Syndrome
Mobius Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Stomatognathic Diseases Disease or Syndrome 28 2 0.540 limited 1.000 5 2004 2019
CUI: C0041207
Disease: Truncus Arteriosus, Persistent
Truncus Arteriosus, Persistent
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 76 4 0.520 limited 1.000 3 2013 2019
CUI: C0853240
Disease: Mobius II syndrome
Mobius II syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Stomatognathic Diseases Congenital Abnormality 2 0.300 None 1.000 1 2015 2015
CUI: C1135196
Disease: Heart Failure, Diastolic
Heart Failure, Diastolic
disease Cardiovascular Diseases Disease or Syndrome 55 9 0.300 None 1.000 1 2018 2018
CUI: C0012236
Disease: DiGeorge Syndrome
DiGeorge Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases Disease or Syndrome 111 7 0.200 None 0
CUI: C0205682
Disease: Waist-Hip Ratio
Waist-Hip Ratio
phenotype Organism Attribute 565 1138 0.100 None 1.000 2 1 2018 2019
CUI: C0562350
Disease: Hip circumference
Hip circumference
phenotype Clinical Attribute 68 116 0.100 None 1.000 1 1 2015 2015
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure
phenotype Laboratory Procedure 681 1322 0.100 None 1.000 1 1 2019 2019
CUI: C0005890
Disease: Body Height
Body Height
phenotype Organism Attribute 1903 3972 0.100 None 1.000 1 1 2019 2019
CUI: C0265594
Disease: Congenital absence of hand
Congenital absence of hand
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 18 0.100 None 0
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Stomatognathic Diseases Congenital Abnormality 497 70 0.100 None 0
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus
disease Congenital Abnormality 417 30 0.100 None 0
CUI: C0266009
Disease: Congenital absence of breast
Congenital absence of breast
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 15 0.100 None 0
CUI: C0271623
Disease: Hypogonadotropic hypogonadism
Hypogonadotropic hypogonadism
disease Endocrine System Diseases Disease or Syndrome 178 18 0.100 None 0
CUI: C0541794
Disease: Skeletal muscle atrophy
Skeletal muscle atrophy
phenotype Pathologic Function 306 12 0.100 None 0
CUI: C0520947
Disease: Clumsiness - motor delay
Clumsiness - motor delay
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome 393 2 0.100 None 0
CUI: C0424448
Disease: Mask-like facies
Mask-like facies
phenotype Nervous System Diseases Finding 64 2 0.100 None 0
CUI: C0426868
Disease: Absence of hand
Absence of hand
phenotype Finding 18 0.100 None 0
Aplasia of the pectoralis major muscle
disease Anatomical Abnormality 5 0.100 None 0
CUI: C1384666
Disease: hearing impairment
hearing impairment
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 740 337 0.100 None 0
CUI: C4025662
Disease: Abnormality of the ulna
Abnormality of the ulna
phenotype Anatomical Abnormality 14 0.100 None 0
CUI: C4024202
Disease: Reduced number of teeth
Reduced number of teeth
phenotype Finding 67 11 0.100 None 0
CUI: C4023916
Disease: Aplasia/Hypoplasia of the tongue
Aplasia/Hypoplasia of the tongue
phenotype Finding 19 0.100 None 0
CUI: C4021776
Disease: Abnormality of the voice
Abnormality of the voice
disease Finding 64 0.100 None 0
CUI: C4021655
Disease: Abnormality of the sense of smell
Abnormality of the sense of smell
phenotype Finding 14 1 0.100 None 0