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: C1860339
Disease: WAARDENBURG SYNDROME, TYPE IIA
WAARDENBURG SYNDROME, TYPE IIA 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 3 24 1.000 None 1.000 6 20 1967 2019
CUI: C0391816
Disease: Tietz syndrome
Tietz syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 1 5 0.940 None 1.000 5 5 1967 2016
CUI: C2700265
Disease: Waardenburg Syndrome Type 2
Waardenburg Syndrome Type 2 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 1 1 0.800 definitive 1.000 0 1 1994 2019
CUI: C4310625
Disease: COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS
COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS 		disease Disease or Syndrome 1 4 0.710 None 1.000 0 4 1994 2016
CUI: C3266898
Disease: Waardenburg Syndrome
Waardenburg Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 2 4 0.700 strong 0.971 12 2 1994 2020
CUI: C3152204
Disease: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 8
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 8 		disease Finding 2 2 0.700 None 1.000 11 1 2011 2019
CUI: C1847800
Disease: Waardenburg Syndrome Type 1
Waardenburg Syndrome Type 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 2 42 0.300 None 0 1
CUI: C0162835
Disease: Hypopigmentation disorder
Hypopigmentation disorder 		disease Skin and Connective Tissue Diseases Disease or Syndrome 4 6 0.160 None 1.000 0 1 1998 2019
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 22 1 1987 2016
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		phenotype Finding 30 35 0.100 None 1.000 4 1 2011 2016
CUI: C1837463
Disease: Narrow face
Narrow face 		phenotype Finding 6 6 0.100 None 1.000 4 1 2011 2016
CUI: C1836806
Disease: Mild microcephaly
Mild microcephaly 		phenotype Finding 5 5 0.100 None 1.000 4 1 2011 2016
CUI: C0009806
Disease: Constipation
Constipation 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 40 49 0.100 None 1.000 4 1 2011 2016
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		disease Mental Disorders Mental or Behavioral Dysfunction 39 51 0.100 None 1.000 4 1 2011 2016
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 74 93 0.100 None 1.000 4 1 2011 2016
CUI: C0037822
Disease: Speech Disorders
Speech Disorders 		group Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 6 6 0.100 None 1.000 4 1 2011 2016
CUI: C0038273
Disease: Stereotypic Movement Disorder
Stereotypic Movement Disorder 		phenotype Mental Disorders Mental or Behavioral Dysfunction 21 25 0.100 None 1.000 4 1 2011 2016
CUI: C0221262
Disease: Poliosis
Poliosis 		disease Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome 1 1 0.100 None 0 1
CUI: C1865866
Disease: Congenital sensorineural hearing loss
Congenital sensorineural hearing loss 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Congenital Abnormality 9 16 0.100 None 0 1
CUI: C0263498
Disease: Premature canities
Premature canities 		phenotype Finding 4 4 0.100 None 0 1
CUI: C0423318
Disease: Heterochromia iridis
Heterochromia iridis 		phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Skin and Connective Tissue Diseases Finding 7 10 0.100 None 0 4
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		phenotype Behavior and Behavior Mechanisms Finding 124 192 0.100 None 0 1
CUI: C3887873
Disease: Hearing Loss
Hearing Loss 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Finding 18 61 0.100 None 0 1
CUI: C4021806
Disease: Prelingual sensorineural hearing impairment
Prelingual sensorineural hearing impairment 		disease Disease or Syndrome 4 7 0.100 None 0 1
CUI: C1384666
Disease: hearing impairment
hearing impairment 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 88 257 0.100 None 0 4