MSX1, msh homeobox 1, 4487

N. diseases: 180; N. variants: 21
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.
Cleft Lip with or without Cleft Palate
disease Congenital Abnormality 99 50 0.100 None 1.000 11 1 2001 2018
CUI: C0747085
Disease: Recurrent otitis media
Recurrent otitis media
disease Otorhinolaryngologic Diseases Disease or Syndrome 120 11 0.100 None 0
CUI: C0679136
Disease: Low self-esteem
Low self-esteem
phenotype Behavior and Behavior Mechanisms Finding 10 0.100 None 0
CUI: C0263523
Disease: Micronychia (disorder)
Micronychia (disorder)
phenotype Skin and Connective Tissue Diseases Finding 60 5 0.100 None 0
CUI: C0266037
Disease: Peg-shaped teeth
Peg-shaped teeth
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Congenital Abnormality 17 2 0.100 None 0
CUI: C0566620
Disease: Nasal voice
Nasal voice
phenotype Finding 93 3 0.100 None 0
CUI: C0266036
Disease: Macrodontia
Macrodontia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Congenital Abnormality 12 1 0.100 None 0
CUI: C0392005
Disease: Bilateral cleft lip
Bilateral cleft lip
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Congenital Abnormality 8 1 0.100 None 0
CUI: C0341059
Disease: Lip pit
Lip pit
disease Anatomical Abnormality 14 0.100 None 0
Congenital abnormality of Eustachian tube
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Congenital Abnormality 4 0.100 None 0
Delayed speech and language development
phenotype Behavior and Behavior Mechanisms Finding 560 192 0.100 None 0
CUI: C0302511
Disease: Small for gestational age fetus
Small for gestational age fetus
phenotype Pathological Conditions, Signs and Symptoms Finding 156 0.100 None 0
CUI: C0271441
Disease: Chronic otitis media
Chronic otitis media
disease Otorhinolaryngologic Diseases Disease or Syndrome 163 6 0.100 None 0
CUI: C0267071
Disease: Oropharyngeal Dysphagia
Oropharyngeal Dysphagia
disease Digestive System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 43 8 0.100 None 0
CUI: C0423820
Disease: Ridged nails
Ridged nails
phenotype Finding 22 0.100 None 0
CUI: C0423867
Disease: Fine hair
Fine hair
phenotype Finding 69 1 0.100 None 0
CUI: C4025062
Disease: Supernumerary maxillary incisor
Supernumerary maxillary incisor
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Anatomical Abnormality 5 0.100 None 0
CUI: C1290511
Disease: Anodontia of Permanent Dentition
Anodontia of Permanent Dentition
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Congenital Abnormality 12 0.100 None 0
CUI: C1306503
Disease: Congenital exomphalos
Congenital exomphalos
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 235 0.100 None 0
CUI: C4021881
Disease: Agenesis of lateral incisor
Agenesis of lateral incisor
phenotype Anatomical Abnormality 10 0.100 None 0
CUI: C4022143
Disease: Unilateral cleft palate
Unilateral cleft palate
disease Congenital Abnormality 12 1 0.100 None 0
CUI: C4023357
Disease: Maternal teratogenic exposure
Maternal teratogenic exposure
phenotype Finding 5 1 0.100 None 0
CUI: C4023573
Disease: Abnormal number of permanent teeth
Abnormal number of permanent teeth
phenotype Anatomical Abnormality 9 0.100 None 0
Peg-shaped maxillary lateral incisors
phenotype Finding 11 0.100 None 0
CUI: C4025215
Disease: Disturbance of facial expression
Disturbance of facial expression
phenotype Finding 5 0.100 None 0