Source: CLINVAR ×
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: C1335929
Disease: Schwannomatosis
Schwannomatosis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases; Nervous System Diseases Neoplastic Process 1 2 0.800 strong 0.957 0 2 2007 2019
CUI: C1836327
Disease: RHABDOID TUMOR PREDISPOSITION SYNDROME 1 (disorder)
RHABDOID TUMOR PREDISPOSITION SYNDROME 1 (disorder) 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases Neoplastic Process 1 14 0.720 definitive 1.000 10 14 1999 2018
CUI: C3553248
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 15
MENTAL RETARDATION, AUTOSOMAL DOMINANT 15 		disease Disease or Syndrome 1 7 0.600 strong 1.000 3 7 2012 2015
CUI: C2750405
Disease: Malignant Rhabdoid Tumor, Somatic
Malignant Rhabdoid Tumor, Somatic 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases Disease or Syndrome 1 1 0.600 definitive 1.000 0 1 1999 2013
CUI: C4048809
Disease: SCHWANNOMATOSIS 1
SCHWANNOMATOSIS 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases; Nervous System Diseases Neoplastic Process 1 5 0.400 None 1.000 0 5 2014 2014
CUI: C0027809
Disease: Neurilemmoma
Neurilemmoma 		disease Neoplasms Neoplastic Process 1 1 0.200 None 1.000 0 1 1999 2019
CUI: C0085136
Disease: Central Nervous System Neoplasms
Central Nervous System Neoplasms 		group Neoplasms; Nervous System Diseases Neoplastic Process 1 1 0.190 None 1.000 0 1 2000 2019
CUI: C0036572
Disease: Seizures
Seizures 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 237 417 0.110 None 1.000 0 1 2018 2018
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		disease Congenital Abnormality 335 611 0.100 None 1.000 5 1 2012 2014
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 237 350 0.100 None 1.000 5 1 2012 2014
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 336 579 0.100 None 1.000 5 2 2012 2014
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms Neoplastic Process 67 6385 0.100 None 1.000 1 1 2010 2010
CUI: C1854111
Disease: Broad philtrum
Broad philtrum 		phenotype Finding 2 2 0.100 None 0 1
CUI: C1853738
Disease: Long eyelashes
Long eyelashes 		phenotype Finding 13 17 0.100 None 0 1
CUI: C1857042
Disease: Sparse scalp hair
Sparse scalp hair 		phenotype Finding 7 7 0.100 None 0 1
CUI: C1853487
Disease: Thick eyebrow
Thick eyebrow 		phenotype Finding 9 13 0.100 None 0 1
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide 		phenotype Finding 26 29 0.100 None 0 1
CUI: C1859077
Disease: Aplasia/Hypoplasia of the nails
Aplasia/Hypoplasia of the nails 		phenotype Pathological Conditions, Signs and Symptoms Finding 4 4 0.100 None 0 1
CUI: C3489393
Disease: Hiatal Hernia
Hiatal Hernia 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 4 3 0.100 None 0 1
CUI: C4016745
Disease: SCHWANNOMATOSIS 1, SOMATIC
SCHWANNOMATOSIS 1, SOMATIC 		disease Finding 1 1 0.100 None 0 1
CUI: C4023116
Disease: Hypoplastic fifth toenail
Hypoplastic fifth toenail 		disease Anatomical Abnormality 4 4 0.100 None 0 1
CUI: C4023342
Disease: Gastrostomy tube feeding in infancy
Gastrostomy tube feeding in infancy 		phenotype Finding 15 19 0.100 None 0 1
CUI: C4024276
Disease: Peripheral Schwannoma
Peripheral Schwannoma 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 2 2 0.100 None 0 1
CUI: C4024682
Disease: Hypoplastic fifth fingernail
Hypoplastic fifth fingernail 		disease Anatomical Abnormality 3 3 0.100 None 0 1
CUI: C4317146
Disease: Acid reflux
Acid reflux 		phenotype Finding 50 58 0.100 None 0 1