Source: HPO

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 50814
Gene Symbol: NSDHL
NSDHL 		NAD(P) dependent steroid dehydrogenase-like 0.621 0.538 0.96
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		group 0.110 None 1.000 0 0 2010 2010
Entrez Id: 50814
Gene Symbol: NSDHL
NSDHL 		NAD(P) dependent steroid dehydrogenase-like 0.621 0.538 0.96
CUI: C4553962
Disease: Hyperkeratosis, CTCAE
Hyperkeratosis, CTCAE 		phenotype 0.100 None 0 0
Entrez Id: 50814
Gene Symbol: NSDHL
NSDHL 		NAD(P) dependent steroid dehydrogenase-like 0.621 0.538 0.96
CUI: C1845977
Disease: X- linked recessive
X- linked recessive 		phenotype 0.100 None 0 0
Entrez Id: 50814
Gene Symbol: NSDHL
NSDHL 		NAD(P) dependent steroid dehydrogenase-like 0.621 0.538 0.96
CUI: C1840006
Disease: Mild intrauterine growth retardation
Mild intrauterine growth retardation 		phenotype 0.100 None 0 0
Entrez Id: 50814
Gene Symbol: NSDHL
NSDHL 		NAD(P) dependent steroid dehydrogenase-like 0.621 0.538 0.96
CUI: C1839546
Disease: Microretrognathia
Microretrognathia 		phenotype 0.100 None 0 0
Entrez Id: 50814
Gene Symbol: NSDHL
NSDHL 		NAD(P) dependent steroid dehydrogenase-like 0.621 0.538 0.96
CUI: C1837463
Disease: Narrow face
Narrow face 		phenotype 0.100 None 0 0
Entrez Id: 50814
Gene Symbol: NSDHL
NSDHL 		NAD(P) dependent steroid dehydrogenase-like 0.621 0.538 0.96
CUI: C1836047
Disease: Long face
Long face 		phenotype 0.100 None 0 0
Entrez Id: 50814
Gene Symbol: NSDHL
NSDHL 		NAD(P) dependent steroid dehydrogenase-like 0.621 0.538 0.96
CUI: C1609433
Disease: Congenital absence of kidneys syndrome
Congenital absence of kidneys syndrome 		disease 0.100 None 0 0
Entrez Id: 50814
Gene Symbol: NSDHL
NSDHL 		NAD(P) dependent steroid dehydrogenase-like 0.621 0.538 0.96
CUI: C1306503
Disease: Congenital exomphalos
Congenital exomphalos 		disease 0.100 None 0 0
Entrez Id: 50814
Gene Symbol: NSDHL
NSDHL 		NAD(P) dependent steroid dehydrogenase-like 0.621 0.538 0.96
CUI: C1184923
Disease: Lumbar hyperlordosis
Lumbar hyperlordosis 		disease 0.100 None 0 0
Entrez Id: 50814
Gene Symbol: NSDHL
NSDHL 		NAD(P) dependent steroid dehydrogenase-like 0.621 0.538 0.96
CUI: C0973461
Disease: Dysphasia
Dysphasia 		disease 0.100 None 0 0
Entrez Id: 50814
Gene Symbol: NSDHL
NSDHL 		NAD(P) dependent steroid dehydrogenase-like 0.621 0.538 0.96
CUI: C0870082
Disease: Hyperkeratosis
Hyperkeratosis 		disease 0.100 None 0 0
Entrez Id: 50814
Gene Symbol: NSDHL
NSDHL 		NAD(P) dependent steroid dehydrogenase-like 0.621 0.538 0.96
CUI: C0853087
Disease: Nail abnormality
Nail abnormality 		phenotype 0.100 None 0 0
Entrez Id: 50814
Gene Symbol: NSDHL
NSDHL 		NAD(P) dependent steroid dehydrogenase-like 0.621 0.538 0.96
CUI: C0851578
Disease: Sleep Disorders
Sleep Disorders 		group 0.100 None 0 0
Entrez Id: 50814
Gene Symbol: NSDHL
NSDHL 		NAD(P) dependent steroid dehydrogenase-like 0.621 0.538 0.96
CUI: C0700201
Disease: Dyssomnias
Dyssomnias 		disease 0.100 None 0 0
Entrez Id: 50814
Gene Symbol: NSDHL
NSDHL 		NAD(P) dependent steroid dehydrogenase-like 0.621 0.538 0.96
CUI: C1847879
Disease: X-linked dominant inheritance
X-linked dominant inheritance 		phenotype 0.100 None 0 0
Entrez Id: 50814
Gene Symbol: NSDHL
NSDHL 		NAD(P) dependent steroid dehydrogenase-like 0.621 0.538 0.96
CUI: C1850573
Disease: Slender build
Slender build 		phenotype 0.100 None 0 0
Entrez Id: 50814
Gene Symbol: NSDHL
NSDHL 		NAD(P) dependent steroid dehydrogenase-like 0.621 0.538 0.96
CUI: C1854113
Disease: Prominent nasal bridge
Prominent nasal bridge 		phenotype 0.100 None 0 0
Entrez Id: 50814
Gene Symbol: NSDHL
NSDHL 		NAD(P) dependent steroid dehydrogenase-like 0.621 0.538 0.96
CUI: C4552810
Disease: Irritability, CTCAE
Irritability, CTCAE 		phenotype 0.100 None 0 0
Entrez Id: 50814
Gene Symbol: NSDHL
NSDHL 		NAD(P) dependent steroid dehydrogenase-like 0.621 0.538 0.96
CUI: C4551464
Disease: Aplasia/hypoplasia of the extremities
Aplasia/hypoplasia of the extremities 		disease 0.100 None 0 0
Entrez Id: 50814
Gene Symbol: NSDHL
NSDHL 		NAD(P) dependent steroid dehydrogenase-like 0.621 0.538 0.96
CUI: C4024780
Disease: Almond-shaped palpebral fissure
Almond-shaped palpebral fissure 		phenotype 0.100 None 0 0
Entrez Id: 50814
Gene Symbol: NSDHL
NSDHL 		NAD(P) dependent steroid dehydrogenase-like 0.621 0.538 0.96
CUI: C4021741
Disease: Abnormal cortical bone morphology
Abnormal cortical bone morphology 		disease 0.100 None 0 0
Entrez Id: 50814
Gene Symbol: NSDHL
NSDHL 		NAD(P) dependent steroid dehydrogenase-like 0.621 0.538 0.96
CUI: C3536734
Disease: Hypoplastic pelvis
Hypoplastic pelvis 		disease 0.100 None 0 0
Entrez Id: 50814
Gene Symbol: NSDHL
NSDHL 		NAD(P) dependent steroid dehydrogenase-like 0.621 0.538 0.96
CUI: C3494422
Disease: Retrognathia
Retrognathia 		disease 0.100 None 0 0
Entrez Id: 50814
Gene Symbol: NSDHL
NSDHL 		NAD(P) dependent steroid dehydrogenase-like 0.621 0.538 0.96
CUI: C3274516
Disease: Single Ventricle Defect
Single Ventricle Defect 		disease 0.100 None 0 0