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: 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 15 5 1967 2016
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 3 4 1994 2016
CUI: C4750999
Disease: Ocular albinism with congenital sensorineural deafness
Ocular albinism with congenital sensorineural deafness 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 1 0.300 moderate 1.000 1 2016 2016
CUI: C3152204
Disease: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 8
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 8 		disease Finding 2 2 0.700 None 1.000 13 1 2011 2019
CUI: C1863198
Disease: ALBINISM, OCULAR, WITH SENSORINEURAL DEAFNESS (disorder)
ALBINISM, OCULAR, WITH SENSORINEURAL DEAFNESS (disorder) 		disease Disease or Syndrome 2 14 0.700 None 1.000 8 1 1967 2016
CUI: C0078921
Disease: Albinism, Tyrosinase-Negative
Albinism, Tyrosinase-Negative 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases Congenital Abnormality 2 0.300 None 1.000 1 1997 1997
CUI: C0078922
Disease: Albinism, Tyrosinase-Positive
Albinism, Tyrosinase-Positive 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases Congenital Abnormality 2 0.300 None 1.000 1 1997 1997
CUI: C0078923
Disease: Albinism, Yellow-Mutant
Albinism, Yellow-Mutant 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases Finding 2 0.300 None 1.000 1 1997 1997
CUI: C1332614
Disease: Angiosarcoma of the breast
Angiosarcoma of the breast 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 2 0.010 None 1.000 1 2017 2017
CUI: C4525234
Disease: Xiphophorus Melanoma
Xiphophorus Melanoma 		disease Neoplastic Process 2 0.010 None 1.000 1 2003 2003
CUI: C4316813
Disease: Dystopia canthorum
Dystopia canthorum 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 3 0.020 None 1.000 2 1998 2007
CUI: C2700405
Disease: WAARDENBURG SYNDROME, TYPE IIE
WAARDENBURG SYNDROME, TYPE IIE 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 3 5 0.300 None 1.000 1 1997 1997
CUI: C1845069
Disease: ALBINISM, OCULAR, WITH LATE-ONSET SENSORINEURAL DEAFNESS (disorder)
ALBINISM, OCULAR, WITH LATE-ONSET SENSORINEURAL DEAFNESS (disorder) 		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; Congenital Abnormality 3 2 0.300 None 0 1
CUI: C3806221
Disease: Giant melanosomes in melanocytes
Giant melanosomes in melanocytes 		phenotype Finding 4 0.100 None 0
CUI: C1333065
Disease: Lung Clear Cell Tumor
Lung Clear Cell Tumor 		disease Neoplastic Process 5 0.010 None 1.000 1 2018 2018
CUI: C0221262
Disease: Poliosis
Poliosis 		disease Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome 5 1 0.100 None 0 1
CUI: C0036305
Disease: Schamberg Disease
Schamberg Disease 		phenotype Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome 6 0.300 None 1.000 1 1997 1997
CUI: C1337036
Disease: Renal Cell Carcinoma Associated with Xp11.2 Translocations/TFE3 Gene Fusions
Renal Cell Carcinoma Associated with Xp11.2 Translocations/TFE3 Gene Fusions 		disease Neoplastic Process 6 0.010 None 1.000 1 2014 2014
CUI: C1860339
Disease: WAARDENBURG SYNDROME, TYPE IIA
WAARDENBURG SYNDROME, TYPE IIA 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 7 26 1.000 None 1.000 33 21 1967 2019
CUI: C1836737
Disease: White eyebrow
White eyebrow 		phenotype Finding 7 0.100 None 0
CUI: C1855331
Disease: Olfactory lobe agenesis
Olfactory lobe agenesis 		phenotype Finding 7 0.100 None 0
CUI: C1860344
Disease: Hypoplastic iris stroma
Hypoplastic iris stroma 		phenotype Finding 7 0.100 None 0
CUI: C2676026
Disease: Optic nerve dysplasia
Optic nerve dysplasia 		phenotype Finding 7 0.100 None 0
CUI: C1836736
Disease: White eyelashes
White eyelashes 		phenotype Finding 8 0.100 None 0
CUI: C2700265
Disease: Waardenburg Syndrome Type 2
Waardenburg Syndrome Type 2 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 9 2 0.800 definitive 1.000 23 1 1994 2019