DHH, desert hedgehog signaling molecule, 50846

N. diseases: 57; N. variants: 9
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: C1856273
Disease: 46,XY Gonadal Dysgenesis, Complete or Partial, DHH-Related
46,XY Gonadal Dysgenesis, Complete or Partial, DHH-Related 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality 1 5 0.700 strong 1.000 3 5 2004 2018
CUI: C2751325
Disease: 46,Xy Gonadal Dysgenesis, Partial, With Minifascicular Neuropathy
46,Xy Gonadal Dysgenesis, Partial, With Minifascicular Neuropathy 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases; Endocrine System Diseases Disease or Syndrome 1 2 0.700 strong 1.000 2 2 2000 2012
CUI: C4024222
Disease: Abnormality of the epididymis
Abnormality of the epididymis 		disease Anatomical Abnormality 2 0.100 None 0
CUI: C4024632
Disease: Gonadal dysgenesis with female appearance, male
Gonadal dysgenesis with female appearance, male 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality 2 0.100 None 0
CUI: C4025648
Disease: Abnormal peripheral myelination
Abnormal peripheral myelination 		disease Anatomical Abnormality 2 0.100 None 0
CUI: C1843859
Disease: Sensory ataxic neuropathy
Sensory ataxic neuropathy 		phenotype Finding 3 0.100 None 0
CUI: C1968706
Disease: Hypoplasia of the fallopian tube
Hypoplasia of the fallopian tube 		phenotype Finding 3 0.100 None 0
CUI: C0687149
Disease: Pure gonadal dysgenesis
Pure gonadal dysgenesis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality 4 0.010 None 1.000 1 2004 2004
CUI: C0452148
Disease: Hypospadias, perineal
Hypospadias, perineal 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Congenital Abnormality 8 15 0.100 None 1.000 1 2 2018 2018
CUI: C4020690
Disease: Abnormality of peripheral nerve conduction
Abnormality of peripheral nerve conduction 		phenotype Finding 8 0.100 None 0
CUI: C1836527
Disease: Distal sensory impairment of all modalities
Distal sensory impairment of all modalities 		phenotype Finding 9 0.100 None 0
CUI: C1856023
Disease: Abnormal vagina morphology
Abnormal vagina morphology 		phenotype Finding 12 0.100 None 0
CUI: C0302885
Disease: Testicular dysgenesis
Testicular dysgenesis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality 13 2 0.100 None 1.000 1 2 2018 2018
CUI: C4022995
Disease: Sex reversal
Sex reversal 		phenotype Finding 14 0.100 None 0
CUI: C4021822
Disease: Abnormality of female external genitalia
Abnormality of female external genitalia 		disease Anatomical Abnormality 15 0.100 None 0
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 0.020 None 1.000 2 2012 2019
CUI: C0266371
Disease: Streak ovary
Streak ovary 		disease Congenital Abnormality 21 0.100 None 0
CUI: C1858285
Disease: Decreased number of peripheral myelinated nerve fibers
Decreased number of peripheral myelinated nerve fibers 		phenotype Finding 28 0.100 None 0
CUI: C0018054
Disease: Gonadal Dysgenesis, 46,XY
Gonadal Dysgenesis, 46,XY 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 29 1 0.310 None 1.000 2 2000 2018
CUI: C4551492
Disease: Micropenis
Micropenis 		disease Congenital Abnormality 32 21 0.100 None 1.000 1 2 2018 2018
CUI: C0241011
Disease: Low serum estradiol levels
Low serum estradiol levels 		phenotype Finding 33 0.100 None 0
CUI: C0206661
Disease: Gonadoblastoma
Gonadoblastoma 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Neoplastic Process 34 2 0.100 None 0
CUI: C1862265
Disease: Increased circulating gonadotropin level
Increased circulating gonadotropin level 		phenotype Nervous System Diseases; Endocrine System Diseases Finding 34 0.100 None 0
CUI: C0266399
Disease: Infantile uterus
Infantile uterus 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Congenital Abnormality 43 0.100 None 0
CUI: C4073137
Disease: Decreased serum testosterone level
Decreased serum testosterone level 		phenotype Finding 47 0.100 None 0