GPKOW, G-patch domain and KOW motifs, 27238

N. diseases: 37; N. variants: 0
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.
Holoprosencephaly with Fetal Akinesia-Hypokinesia Sequence
phenotype Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 1 0.300 None 1.000 1 2017 2017
CUI: C0025958
Disease: Microcephaly
Microcephaly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 1064 27 0.110 None 1.000 1 2017 2017
CUI: C0015934
Disease: Fetal Growth Retardation
Fetal Growth Retardation
phenotype Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome 1037 21 0.110 None 1.000 1 2017 2017
CUI: C0423224
Disease: Sunken eyes
Sunken eyes
phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Finding 171 54 0.100 None 0
CUI: C0432333
Disease: Abnormal dermatoglyphic pattern
Abnormal dermatoglyphic pattern
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Congenital Abnormality 44 0.100 None 0
CUI: C0521525
Disease: Short neck
Short neck
phenotype Finding 288 29 0.100 None 0
CUI: C1857108
Disease: Limitation of joint mobility
Limitation of joint mobility
phenotype Finding 84 3 0.100 None 0
CUI: C1857453
Disease: Renal hypoplasia/aplasia
Renal hypoplasia/aplasia
phenotype Finding 73 2 0.100 None 0
CUI: C1857679
Disease: Sloping forehead
Sloping forehead
phenotype Finding 149 5 0.100 None 0
CUI: C0005744
Disease: Blepharophimosis
Blepharophimosis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 106 15 0.100 None 0
Aplasia/Hypoplasia of the corpus callosum
phenotype Finding 108 8 0.100 None 0
Aplasia/Hypoplasia of the cerebellum
phenotype Finding 116 5 0.100 None 0
CUI: C3554617
Disease: Adducted thumb
Adducted thumb
phenotype Musculoskeletal Diseases Finding 74 5 0.100 None 0
CUI: C4020962
Disease: Enlarged thorax
Enlarged thorax
phenotype Finding 25 4 0.100 None 0
CUI: C4023752
Disease: Abnormality of the diencephalon
Abnormality of the diencephalon
phenotype Anatomical Abnormality 10 0.100 None 0
CUI: C4024996
Disease: Aplasia/Hypoplasia of the lungs
Aplasia/Hypoplasia of the lungs
phenotype Finding 29 0.100 None 0
CUI: C4025726
Disease: Abnormality of the pleura
Abnormality of the pleura
disease Anatomical Abnormality 10 0.100 None 0
Flexion contracture of proximal interphalangeal joint
phenotype Finding 168 7 0.100 None 0
CUI: C4551583
Disease: Cerebral cortical atrophy
Cerebral cortical atrophy
disease Disease or Syndrome 271 13 0.100 None 0
CUI: C0020225
Disease: Hydranencephaly
Hydranencephaly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 15 1 0.100 None 0
CUI: C0025990
Disease: Micrognathism
Micrognathism
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Congenital Abnormality 586 53 0.100 None 0
CUI: C0079541
Disease: Holoprosencephaly
Holoprosencephaly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 109 45 0.100 None 0
CUI: C0235659
Disease: Reduced fetal movement
Reduced fetal movement
phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications Finding 169 17 0.100 None 0
CUI: C0239234
Disease: Low set ears
Low set ears
disease Congenital Abnormality 489 64 0.100 None 0
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
group Neoplasms Neoplastic Process 8221 1374 0.010 None 1.000 1 2019 2019