FUZ, fuzzy planar cell polarity protein, 80199

N. diseases: 75; N. variants: 5
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: C1867774
Disease: Sacral Agenesis Syndrome
Sacral Agenesis Syndrome 		phenotype Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases Disease or Syndrome 2 0.300 None 1.000 1 2011 2011
CUI: C2609260
Disease: Caudal dysplasia syndrome
Caudal dysplasia syndrome 		disease Disease or Syndrome 2 0.300 None 1.000 1 2011 2011
CUI: C4023156
Disease: Abnormality of the wing of the ilium
Abnormality of the wing of the ilium 		phenotype Anatomical Abnormality 2 0.100 None 0
CUI: C4024660
Disease: Aplasia/Hypoplasia of the sacrum
Aplasia/Hypoplasia of the sacrum 		phenotype Finding 4 0.100 None 0
CUI: C4024669
Disease: Asymmetry of spinal facet joints
Asymmetry of spinal facet joints 		phenotype Anatomical Abnormality 5 0.100 None 0
CUI: C1960883
Disease: Spina bifida aperta of cervical spine
Spina bifida aperta of cervical spine 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 6 0.300 None 1.000 1 2011 2011
CUI: C0555206
Disease: Chiari malformation type II
Chiari malformation type II 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 7 0.300 None 1.000 1 2011 2011
CUI: C1863353
Disease: Hypoplastic vertebral bodies
Hypoplastic vertebral bodies 		phenotype Finding 11 0.100 None 0
CUI: C3891448
Disease: NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO
NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO 		disease Finding 11 30 0.400 limited 0 3
CUI: C4025167
Disease: Abnormal vertebral segmentation and fusion
Abnormal vertebral segmentation and fusion 		disease Anatomical Abnormality 11 0.100 None 0
CUI: C0300948
Disease: Caudal Regression Syndrome
Caudal Regression Syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 12 1 0.300 None 1.000 1 2011 2011
CUI: C1704981
Disease: Hyperparathyroidism-Jaw Tumor Syndrome
Hyperparathyroidism-Jaw Tumor Syndrome 		disease Neoplasms; Musculoskeletal Diseases; Endocrine System Diseases; Stomatognathic Diseases Neoplastic Process 12 7 0.010 None 1.000 1 2017 2017
CUI: C0344490
Disease: Sacral agenesis
Sacral agenesis 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 15 1 0.600 None 1.000 1 2011 2011
CUI: C0426816
Disease: Absence of rib
Absence of rib 		phenotype Congenital Abnormality 18 1 0.100 None 0
CUI: C0024507
Disease: Majewski Syndrome
Majewski Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 20 31 0.100 None 0 1
CUI: C4551722
Disease: Encephalocele
Encephalocele 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Nervous System Diseases Congenital Abnormality 23 7 0.010 None 1.000 1 2012 2012
CUI: C0011999
Disease: Diastematomyelia
Diastematomyelia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 28 0.300 None 0
CUI: C0152234
Disease: Iniencephaly
Iniencephaly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 28 0.300 None 0
CUI: C0344479
Disease: Spinal Cord Myelodysplasia
Spinal Cord Myelodysplasia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 28 0.300 None 0
CUI: C0027806
Disease: Neurenteric Cyst
Neurenteric Cyst 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 29 0.300 None 0
CUI: C0702169
Disease: Acrania
Acrania 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 31 0.300 None 0
CUI: C0221365
Disease: Double ureter
Double ureter 		disease Congenital Abnormality 34 0.100 None 0
CUI: C0078982
Disease: Arhinencephaly
Arhinencephaly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 35 0.100 None 0
CUI: C0152426
Disease: Craniorachischisis
Craniorachischisis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 38 0.300 None 0
CUI: C0745730
Disease: Multiple lipomata
Multiple lipomata 		disease Neoplasms Neoplastic Process 38 0.100 None 0