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: 3516
Gene Symbol: RBPJ
RBPJ 		recombination signal binding protein for immunoglobulin kappa J region 0.518 0.808 1.00
CUI: C4551570
Disease: 2-3 toe syndactyly
2-3 toe syndactyly 		disease 0.100 None 0 0
Entrez Id: 3516
Gene Symbol: RBPJ
RBPJ 		recombination signal binding protein for immunoglobulin kappa J region 0.518 0.808 1.00
CUI: C1839829
Disease: Short distal phalanx of finger
Short distal phalanx of finger 		phenotype 0.100 None 0 0
Entrez Id: 3516
Gene Symbol: RBPJ
RBPJ 		recombination signal binding protein for immunoglobulin kappa J region 0.518 0.808 1.00
CUI: C1837770
Disease: Sparse hair
Sparse hair 		phenotype 0.100 None 0 0
Entrez Id: 3516
Gene Symbol: RBPJ
RBPJ 		recombination signal binding protein for immunoglobulin kappa J region 0.518 0.808 1.00
CUI: C1623038
Disease: Cirrhosis
Cirrhosis 		disease 0.100 None 0 0
Entrez Id: 3516
Gene Symbol: RBPJ
RBPJ 		recombination signal binding protein for immunoglobulin kappa J region 0.518 0.808 1.00
CUI: C1301937
Disease: Talipes
Talipes 		disease 0.100 None 0 0
Entrez Id: 3516
Gene Symbol: RBPJ
RBPJ 		recombination signal binding protein for immunoglobulin kappa J region 0.518 0.808 1.00
CUI: C0426868
Disease: Absence of hand
Absence of hand 		phenotype 0.100 None 0 0
Entrez Id: 3516
Gene Symbol: RBPJ
RBPJ 		recombination signal binding protein for immunoglobulin kappa J region 0.518 0.808 1.00
CUI: C0282160
Disease: Aplasia Cutis Congenita
Aplasia Cutis Congenita 		disease 0.100 None 0 0
Entrez Id: 3516
Gene Symbol: RBPJ
RBPJ 		recombination signal binding protein for immunoglobulin kappa J region 0.518 0.808 1.00
CUI: C0265908
Disease: Congenital atresia of pulmonary artery
Congenital atresia of pulmonary artery 		disease 0.100 None 0 0
Entrez Id: 3516
Gene Symbol: RBPJ
RBPJ 		recombination signal binding protein for immunoglobulin kappa J region 0.518 0.808 1.00
CUI: C0265594
Disease: Congenital absence of hand
Congenital absence of hand 		disease 0.100 None 0 0
Entrez Id: 3516
Gene Symbol: RBPJ
RBPJ 		recombination signal binding protein for immunoglobulin kappa J region 0.518 0.808 1.00
CUI: C0263401
Disease: Cutis marmorata
Cutis marmorata 		disease 0.100 None 0 0
Entrez Id: 3516
Gene Symbol: RBPJ
RBPJ 		recombination signal binding protein for immunoglobulin kappa J region 0.518 0.808 1.00
CUI: C0221373
Disease: Claw hand
Claw hand 		disease 0.100 None 0 0
Entrez Id: 3516
Gene Symbol: RBPJ
RBPJ 		recombination signal binding protein for immunoglobulin kappa J region 0.518 0.808 1.00
CUI: C1844554
Disease: Absent fingernail
Absent fingernail 		phenotype 0.100 None 0 0
Entrez Id: 3516
Gene Symbol: RBPJ
RBPJ 		recombination signal binding protein for immunoglobulin kappa J region 0.518 0.808 1.00
CUI: C1849020
Disease: Short metatarsal
Short metatarsal 		phenotype 0.100 None 0 0
Entrez Id: 3516
Gene Symbol: RBPJ
RBPJ 		recombination signal binding protein for immunoglobulin kappa J region 0.518 0.808 1.00
CUI: C4082172
Disease: Porencephalic cyst
Porencephalic cyst 		disease 0.100 None 0 0
Entrez Id: 3516
Gene Symbol: RBPJ
RBPJ 		recombination signal binding protein for immunoglobulin kappa J region 0.518 0.808 1.00
CUI: C4025787
Disease: Calvarial skull defect
Calvarial skull defect 		disease 0.100 None 0 0
Entrez Id: 3516
Gene Symbol: RBPJ
RBPJ 		recombination signal binding protein for immunoglobulin kappa J region 0.518 0.808 1.00
CUI: C4021785
Disease: Abnormality of the metacarpal bones
Abnormality of the metacarpal bones 		disease 0.100 None 0 0
Entrez Id: 3516
Gene Symbol: RBPJ
RBPJ 		recombination signal binding protein for immunoglobulin kappa J region 0.518 0.808 1.00
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		group 0.100 None 0 0
Entrez Id: 3516
Gene Symbol: RBPJ
RBPJ 		recombination signal binding protein for immunoglobulin kappa J region 0.518 0.808 1.00
CUI: C3553754
Disease: Absent toe
Absent toe 		disease 0.100 None 0 0
Entrez Id: 3516
Gene Symbol: RBPJ
RBPJ 		recombination signal binding protein for immunoglobulin kappa J region 0.518 0.808 1.00
CUI: C3203102
Disease: Idiopathic pulmonary arterial hypertension
Idiopathic pulmonary arterial hypertension 		disease 0.100 None 0 0
Entrez Id: 3516
Gene Symbol: RBPJ
RBPJ 		recombination signal binding protein for immunoglobulin kappa J region 0.518 0.808 1.00
CUI: C3164374
Disease: Abnormality of pulmonary valve
Abnormality of pulmonary valve 		disease 0.100 None 0 0
Entrez Id: 3516
Gene Symbol: RBPJ
RBPJ 		recombination signal binding protein for immunoglobulin kappa J region 0.518 0.808 1.00
CUI: C2973725
Disease: Pulmonary arterial hypertension
Pulmonary arterial hypertension 		disease 0.100 None 0 0
Entrez Id: 3516
Gene Symbol: RBPJ
RBPJ 		recombination signal binding protein for immunoglobulin kappa J region 0.518 0.808 1.00
CUI: C1856786
Disease: Hypoplastic fingernail
Hypoplastic fingernail 		phenotype 0.100 None 0 0
Entrez Id: 3516
Gene Symbol: RBPJ
RBPJ 		recombination signal binding protein for immunoglobulin kappa J region 0.518 0.808 1.00
CUI: C1856749
Disease: Aplastic/hypoplastic toenail
Aplastic/hypoplastic toenail 		phenotype 0.100 None 0 0
Entrez Id: 3516
Gene Symbol: RBPJ
RBPJ 		recombination signal binding protein for immunoglobulin kappa J region 0.518 0.808 1.00
CUI: C0221357
Disease: Brachydactyly
Brachydactyly 		disease 0.100 None 0 0
Entrez Id: 3516
Gene Symbol: RBPJ
RBPJ 		recombination signal binding protein for immunoglobulin kappa J region 0.518 0.808 1.00
CUI: C0221352
Disease: Syndactyly of fingers
Syndactyly of fingers 		disease 0.100 None 0 0