RBM10, RNA binding motif protein 10, 8241

N. diseases: 99; N. variants: 8
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: C1839463
Disease: TARP syndrome
TARP syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases; Cardiovascular Diseases Disease or Syndrome 2 5 0.770 None 1.000 10 5 1970 2018
CUI: C0265931
Disease: Persistent left superior vena cava
Persistent left superior vena cava
disease Congenital Abnormality 2 0.110 None 1.000 1 2014 2014
CUI: C1859477
Disease: Hypoplasia of proximal radius
Hypoplasia of proximal radius
disease Anatomical Abnormality 2 0.100 None 0
CUI: C4025716
Disease: Abnormality of the duodenum
Abnormality of the duodenum
phenotype Anatomical Abnormality 2 0.100 None 0
CUI: C1865598
Disease: Alveolar ridge overgrowth
Alveolar ridge overgrowth
phenotype Finding 5 1 0.100 None 0
CUI: C0334587
Disease: Astroblastoma
Astroblastoma
disease Neoplasms Neoplastic Process 6 4 0.010 None 1.000 1 2019 2019
CUI: C1845272
Disease: Prominent antihelix
Prominent antihelix
phenotype Finding 6 0.100 None 0
CUI: C0270742
Disease: Athetoid cerebral palsy
Athetoid cerebral palsy
disease Nervous System Diseases Disease or Syndrome 8 0.100 None 0
CUI: C0575497
Disease: Short sternum
Short sternum
phenotype Finding 9 0.100 None 0
CUI: C0241438
Disease: Tongue nodules
Tongue nodules
phenotype Finding 11 0.100 None 0
CUI: C4023721
Disease: Abnormal hair pattern
Abnormal hair pattern
disease Anatomical Abnormality 15 1 0.100 None 0
Extramedullary Hematopoiesis Function
phenotype Organ or Tissue Function 16 0.100 None 0
CUI: C1842680
Disease: Small earlobe
Small earlobe
phenotype Finding 17 1 0.100 None 0
Widely patent fontanelles and sutures
phenotype Finding 17 0.100 None 0
CUI: C1861921
Disease: Cutaneous syndactyly
Cutaneous syndactyly
phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Finding 17 1 0.100 None 0
CUI: C1857539
Disease: Deep palmar crease
Deep palmar crease
phenotype Finding 23 8 0.100 None 0
CUI: C0267048
Disease: Glossoptosis
Glossoptosis
disease Stomatognathic Diseases Disease or Syndrome 25 1 0.100 None 0
CUI: C0685381
Disease: Congenital hypoplasia of radius
Congenital hypoplasia of radius
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 37 5 0.100 None 0
CUI: C0031900
Disease: Pierre Robin Syndrome
Pierre Robin Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Congenital Abnormality 39 3 0.100 None 0
CUI: C0221353
Disease: Horseshoe Kidney
Horseshoe Kidney
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Congenital Abnormality 51 3 0.100 None 0
CUI: C1861869
Disease: Underdeveloped supraorbital ridges
Underdeveloped supraorbital ridges
phenotype Finding 53 2 0.100 None 0
CUI: C0010520
Disease: Cyanosis
Cyanosis
phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 54 2 0.100 None 0
CUI: C0220697
Disease: POLYDACTYLY, POSTAXIAL
POLYDACTYLY, POSTAXIAL
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 61 7 0.100 None 0
CUI: C0240912
Disease: Vertical Talus
Vertical Talus
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 69 20 0.100 None 0
CUI: C1842581
Disease: Abnormal corpus callosum morphology
Abnormal corpus callosum morphology
phenotype Pathological Conditions, Signs and Symptoms Finding 70 10 0.100 None 0