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: C3150613
Disease: Long toe
Long toe 		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: C2700617
Disease: Irritation - emotion
Irritation - emotion 		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: C1859126
Disease: Stippled epiphyses
Stippled epiphyses 		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: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		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: C1858091
Disease: Long fingers
Long fingers 		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: C1858085
Disease: Malar flattening
Malar flattening 		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: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		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: C0600033
Disease: Acquired Kyphoscoliosis
Acquired Kyphoscoliosis 		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: C0595939
Disease: Stillbirth
Stillbirth 		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: C0037317
Disease: Sleep disturbances
Sleep disturbances 		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: C0036572
Disease: Seizures
Seizures 		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: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		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: C0030436
Disease: Parakeratosis
Parakeratosis 		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: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		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: C0025990
Disease: Micrognathism
Micrognathism 		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: C0025958
Disease: Microcephaly
Microcephaly 		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: C0024003
Disease: Lordosis
Lordosis 		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: C0022821
Disease: Kyphosis deformity of spine
Kyphosis deformity of spine 		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: C0022107
Disease: Irritable Mood
Irritable Mood 		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: C0020295
Disease: Hydronephrosis
Hydronephrosis 		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: C0018816
Disease: Heart Septal Defects
Heart Septal Defects 		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: C0008924
Disease: Cleft upper lip
Cleft upper lip 		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: C0004093
Disease: Asthenia
Asthenia 		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: C0038379
Disease: Strabismus
Strabismus 		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: C0040433
Disease: Tooth Crowding
Tooth Crowding 		phenotype 0.100 None 0 0