Source: INFERRED

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: 55215
Gene Symbol: FANCI
FANCI 		FA complementation group I 0.543 0.731 8.9E-37
CUI: C4025071
Disease: Aplasia/Hypoplasia of fingers
Aplasia/Hypoplasia of fingers 		phenotype 0.100 None 0 0
Entrez Id: 55215
Gene Symbol: FANCI
FANCI 		FA complementation group I 0.543 0.731 8.9E-37
CUI: C4024780
Disease: Almond-shaped palpebral fissure
Almond-shaped palpebral fissure 		phenotype 0.100 None 0 0
Entrez Id: 55215
Gene Symbol: FANCI
FANCI 		FA complementation group I 0.543 0.731 8.9E-37
CUI: C4024748
Disease: Aplasia/Hypoplasia of the iris
Aplasia/Hypoplasia of the iris 		disease 0.100 None 0 0
Entrez Id: 55215
Gene Symbol: FANCI
FANCI 		FA complementation group I 0.543 0.731 8.9E-37
CUI: C4023917
Disease: Aplasia/Hypoplasia of the uvula
Aplasia/Hypoplasia of the uvula 		phenotype 0.100 None 0 0
Entrez Id: 55215
Gene Symbol: FANCI
FANCI 		FA complementation group I 0.543 0.731 8.9E-37
CUI: C4022016
Disease: Abnormality of the preputium
Abnormality of the preputium 		disease 0.100 None 0 0
Entrez Id: 55215
Gene Symbol: FANCI
FANCI 		FA complementation group I 0.543 0.731 8.9E-37
CUI: C4021780
Disease: Abnormality of the liver
Abnormality of the liver 		phenotype 0.100 None 0 0
Entrez Id: 55215
Gene Symbol: FANCI
FANCI 		FA complementation group I 0.543 0.731 8.9E-37
CUI: C4021750
Disease: Abnormality of femur morphology
Abnormality of femur morphology 		disease 0.100 None 0 0
Entrez Id: 55215
Gene Symbol: FANCI
FANCI 		FA complementation group I 0.543 0.731 8.9E-37
CUI: C4021737
Disease: Chromosomal breakage induced by crosslinking agents
Chromosomal breakage induced by crosslinking agents 		phenotype 0.100 None 0 0
Entrez Id: 55215
Gene Symbol: FANCI
FANCI 		FA complementation group I 0.543 0.731 8.9E-37
CUI: C4020968
Disease: Abnormal localization of kidney
Abnormal localization of kidney 		disease 0.100 None 0 0
Entrez Id: 55215
Gene Symbol: FANCI
FANCI 		FA complementation group I 0.543 0.731 8.9E-37
CUI: C4025211
Disease: Abnormal carotid artery morphology
Abnormal carotid artery morphology 		disease 0.100 None 0 0
Entrez Id: 55215
Gene Symbol: FANCI
FANCI 		FA complementation group I 0.543 0.731 8.9E-37
CUI: C4025756
Disease: Abnormal aortic morphology
Abnormal aortic morphology 		disease 0.100 None 0 0
Entrez Id: 55215
Gene Symbol: FANCI
FANCI 		FA complementation group I 0.543 0.731 8.9E-37
CUI: C4025819
Disease: Abnormality of the hypothalamus-pituitary axis
Abnormality of the hypothalamus-pituitary axis 		disease 0.100 None 0 0
Entrez Id: 55240
Gene Symbol: STEAP3
STEAP3 		STEAP3 metalloreductase 0.666 0.385 5.3E-09
CUI: C0004509
Disease: Azoospermia
Azoospermia 		disease 0.100 None 0 0
Entrez Id: 55240
Gene Symbol: STEAP3
STEAP3 		STEAP3 metalloreductase 0.666 0.385 5.3E-09
CUI: C0002871
Disease: Anemia
Anemia 		disease 0.100 None 0 0
Entrez Id: 55240
Gene Symbol: STEAP3
STEAP3 		STEAP3 metalloreductase 0.666 0.385 5.3E-09
CUI: C0001623
Disease: Adrenal gland hypofunction
Adrenal gland hypofunction 		phenotype 0.100 None 0 0
Entrez Id: 55217
Gene Symbol: TMLHE
TMLHE 		trimethyllysine hydroxylase, epsilon 0.821 0.231 8.0E-05
CUI: C1845977
Disease: X- linked recessive
X- linked recessive 		phenotype 0.100 None 0 0
Entrez Id: 55217
Gene Symbol: TMLHE
TMLHE 		trimethyllysine hydroxylase, epsilon 0.821 0.231 8.0E-05
CUI: C1840379
Disease: Cerebellar vermis hypoplasia
Cerebellar vermis hypoplasia 		phenotype 0.100 None 0 1
Entrez Id: 55217
Gene Symbol: TMLHE
TMLHE 		trimethyllysine hydroxylase, epsilon 0.821 0.231 8.0E-05
CUI: C1836830
Disease: Developmental regression
Developmental regression 		disease 0.100 None 0 0
Entrez Id: 55217
Gene Symbol: TMLHE
TMLHE 		trimethyllysine hydroxylase, epsilon 0.821 0.231 8.0E-05
CUI: C0175754
Disease: Agenesis of corpus callosum
Agenesis of corpus callosum 		disease 0.100 None 0 1
Entrez Id: 55215
Gene Symbol: FANCI
FANCI 		FA complementation group I 0.543 0.731 8.9E-37
CUI: C4554036
Disease: Nystagmus, CTCAE 5.0
Nystagmus, CTCAE 5.0 		phenotype 0.100 None 0 0
Entrez Id: 55215
Gene Symbol: FANCI
FANCI 		FA complementation group I 0.543 0.731 8.9E-37
CUI: C4551705
Disease: Abnormality of chromosome stability
Abnormality of chromosome stability 		phenotype 0.100 None 0 0
Entrez Id: 55215
Gene Symbol: FANCI
FANCI 		FA complementation group I 0.543 0.731 8.9E-37
CUI: C3887527
Disease: Fused cervical vertebrae
Fused cervical vertebrae 		disease 0.100 None 0 0
Entrez Id: 55249
Gene Symbol: YY1AP1
YY1AP1 		YY1 associated protein 1 0.711 0.462 1.9E-18
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects 		group 0.100 None 0 0
Entrez Id: 55252
Gene Symbol: ASXL2
ASXL2 		ASXL transcriptional regulator 2 0.617 0.692 1.00
CUI: C0241240
Disease: Tall stature
Tall stature 		phenotype 0.100 None 0 1
Entrez Id: 55252
Gene Symbol: ASXL2
ASXL2 		ASXL transcriptional regulator 2 0.617 0.692 1.00
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		phenotype 0.100 None 0 1