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: C1861862
Disease: Familial Hypertrophic Cardiomyopathy Type 4
Familial Hypertrophic Cardiomyopathy Type 4 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome 3 96 0.100 None 0 1
CUI: C4073145
Disease: Hyperkeratosis pilaris
Hyperkeratosis pilaris 		disease Disease or Syndrome 3 3 0.100 None 0 1
CUI: C4073184
Disease: Thick hair
Thick hair 		phenotype Finding 3 3 0.100 None 0 1
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Cardiovascular Diseases Congenital Abnormality 4 70 1.000 definitive 0.972 43 44 2003 2019
CUI: C0004045
Disease: Asphyxia Neonatorum
Asphyxia Neonatorum 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 4 4 0.100 None 1.000 3 1 2006 2009
CUI: C0558165
Disease: Curly hair (finding)
Curly hair (finding) 		phenotype Finding 4 7 0.100 None 1.000 1 4 2008 2008
CUI: C0020437
Disease: Hypercalcemia
Hypercalcemia 		disease Nutritional and Metabolic Diseases Disease or Syndrome 4 4 0.100 None 0 1
CUI: C0027962
Disease: Melanocytic nevus
Melanocytic nevus 		disease Neoplasms Neoplastic Process 4 6 0.500 strong 0.892 0 1 2003 2019
CUI: C0238463
Disease: Papillary thyroid carcinoma
Papillary thyroid carcinoma 		disease Neoplasms; Endocrine System Diseases Neoplastic Process 4 4 0.900 None 0.968 0 1 2003 2020
CUI: C1843300
Disease: Sparse eyelashes
Sparse eyelashes 		phenotype Finding 4 4 0.100 None 0 1
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
Myeloid Leukemia, Chronic 		disease Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process 5 26 0.430 None 1.000 2 1 2011 2015
CUI: C0553721
Disease: Diminished sweating
Diminished sweating 		phenotype Skin and Connective Tissue Diseases; Nervous System Diseases Finding 5 7 0.100 None 1.000 1 1 2008 2008
CUI: C0002170
Disease: Alopecia
Alopecia 		disease Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome 5 5 0.100 None 0 1
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		group Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 6 6 0.110 None 0.667 2 1 2006 2009
CUI: C0040136
Disease: Thyroid Neoplasm
Thyroid Neoplasm 		disease Neoplasms; Endocrine System Diseases Neoplastic Process 6 25 0.700 None 0.990 1 3 2003 2020
CUI: C1832446
Disease: Sparse eyebrow
Sparse eyebrow 		phenotype Finding 6 6 0.100 None 1.000 1 1 2008 2008
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		disease Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases Disease or Syndrome 6 9 0.100 None 0 1
CUI: C4225426
Disease: THYROID CANCER, NONMEDULLARY, 2
THYROID CANCER, NONMEDULLARY, 2 		disease Neoplastic Process 6 12 0.100 None 0 1
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors 		group Digestive System Diseases; Neoplasms Neoplastic Process 7 124 0.500 None 1.000 6 1 2002 2019
CUI: C0206686
Disease: Adrenocortical carcinoma
Adrenocortical carcinoma 		disease Neoplasms; Endocrine System Diseases Neoplastic Process 7 34 0.420 None 1.000 1 2 2009 2016
CUI: C1858091
Disease: Long fingers
Long fingers 		phenotype Finding 7 6 0.100 None 0 1
CUI: C1837770
Disease: Sparse hair
Sparse hair 		phenotype Finding 8 9 0.100 None 1.000 2 1 2006 2006
CUI: C0578038
Disease: Thin lips
Thin lips 		phenotype Finding 8 8 0.100 None 0 1
CUI: C3150613
Disease: Long toe
Long toe 		phenotype Finding 8 8 0.100 None 0 1
CUI: C4282407
Disease: Sparse and thin eyebrow
Sparse and thin eyebrow 		phenotype Finding 8 8 0.100 None 0 1