MAMLD1, mastermind like domain containing 1, 10046

N. diseases: 52; N. variants: 11
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: C2677879
Disease: Hypospadias 2, X-Linked
Hypospadias 2, X-Linked 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 1 4 0.600 None 1.000 2 4 2006 2015
CUI: C1846169
Disease: Myotubular Myopathy with Abnormal Genital Development
Myotubular Myopathy with Abnormal Genital Development 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases; Nervous System Diseases Disease or Syndrome 2 0.300 None 1.000 2 1997 2015
CUI: C2197691
Disease: Scrotal hypospadias
Scrotal hypospadias 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Congenital Abnormality 2 1 0.010 None 1.000 1 1 2012 2012
CUI: C4020787
Disease: Subcoronal hypospadias
Subcoronal hypospadias 		disease Congenital Abnormality 2 0.010 None 1.000 1 2008 2008
CUI: C1848182
Disease: Blind vagina
Blind vagina 		disease Congenital Abnormality 3 0.100 None 0
CUI: C0452168
Disease: Hypospadias, balanic
Hypospadias, balanic 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Congenital Abnormality 5 0.100 None 0
CUI: C1832932
Disease: DEAFNESS, AUTOSOMAL DOMINANT 5 (disorder)
DEAFNESS, AUTOSOMAL DOMINANT 5 (disorder) 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 6 3 0.010 None 1.000 1 1998 1998
CUI: C0452147
Disease: Hypospadias, penoscrotal
Hypospadias, penoscrotal 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Congenital Abnormality 9 3 0.110 None 1.000 1 2008 2008
CUI: C0268301
Disease: Reifenstein Syndrome
Reifenstein Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 11 35 0.010 None 1.000 1 2011 2011
CUI: C0038874
Disease: Supratentorial Neoplasms
Supratentorial Neoplasms 		group Neoplasms; Nervous System Diseases Neoplastic Process 12 2 0.010 None 1.000 1 2019 2019
CUI: C0405581
Disease: Testicular dysfunction
Testicular dysfunction 		disease Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 13 0.010 None 1.000 1 2008 2008
CUI: C2936694
Disease: Swyer Syndrome
Swyer Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 17 2 0.010 None 1.000 1 2015 2015
CUI: C2751824
Disease: 46, XY Disorders of Sex Development
46, XY Disorders of Sex Development 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 29 10 0.050 None 1.000 5 2012 2017
CUI: C0410203
Disease: X-linked centronuclear myopathy
X-linked centronuclear myopathy 		disease Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 29 140 0.010 None 1.000 1 1997 1997
CUI: C0341787
Disease: Bifid scrotum
Bifid scrotum 		disease Congenital Abnormality 30 2 0.100 None 0
CUI: C4551492
Disease: Micropenis
Micropenis 		disease Congenital Abnormality 32 21 0.010 None 1.000 1 2008 2008
CUI: C0036875
Disease: Disorders of Sex Development
Disorders of Sex Development 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality 39 6 0.010 None 1.000 1 2015 2015
CUI: C1832200
Disease: Peroxisome biogenesis disorders
Peroxisome biogenesis disorders 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 41 38 0.010 None 1.000 1 2000 2000
CUI: C0426818
Disease: Thin rib
Thin rib 		phenotype Finding 42 1 0.100 None 0
CUI: C1855496
Disease: Contiguous gene syndrome
Contiguous gene syndrome 		disease Disease or Syndrome 52 0.010 None 1.000 1 1999 1999
CUI: C0018051
Disease: Gonadal Dysgenesis
Gonadal Dysgenesis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality 53 6 0.010 None 1.000 1 2015 2015
CUI: C0948896
Disease: Primary hypogonadism
Primary hypogonadism 		disease Endocrine System Diseases Disease or Syndrome 80 6 0.010 None 1.000 1 2017 2017
CUI: C2699541
Disease: Cytokine Measurement
Cytokine Measurement 		phenotype Laboratory Procedure 82 123 0.100 None 1.000 1 1 2012 2012
CUI: C2930619
Disease: Sex Differentiation Disorders
Sex Differentiation Disorders 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 103 10 0.040 None 0.750 4 3 2012 2019
CUI: C3495801
Disease: Granulomatosis with polyangiitis
Granulomatosis with polyangiitis 		disease Respiratory Tract Diseases; Immune System Diseases; Cardiovascular Diseases Disease or Syndrome 126 18 0.010 None 1.000 1 2019 2019