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: 55784
Gene Symbol: MCTP2
MCTP2 		multiple C2 and transmembrane domain containing 2 0.623 0.577 6.0E-52
CUI: C0003492
Disease: Aortic coarctation
Aortic coarctation 		disease 0.110 None 1.000 0 0 2013 2013
Entrez Id: 55784
Gene Symbol: MCTP2
MCTP2 		multiple C2 and transmembrane domain containing 2 0.623 0.577 6.0E-52
CUI: C1835884
Disease: Triangular face
Triangular face 		phenotype 0.100 None 0 0
Entrez Id: 55784
Gene Symbol: MCTP2
MCTP2 		multiple C2 and transmembrane domain containing 2 0.623 0.577 6.0E-52
CUI: C1387005
Disease: Penis agenesis
Penis agenesis 		disease 0.100 None 0 0
Entrez Id: 55784
Gene Symbol: MCTP2
MCTP2 		multiple C2 and transmembrane domain containing 2 0.623 0.577 6.0E-52
CUI: C1384670
Disease: Single umbilical artery
Single umbilical artery 		disease 0.100 None 0 0
Entrez Id: 55784
Gene Symbol: MCTP2
MCTP2 		multiple C2 and transmembrane domain containing 2 0.623 0.577 6.0E-52
CUI: C1384666
Disease: hearing impairment
hearing impairment 		phenotype 0.100 None 0 0
Entrez Id: 55784
Gene Symbol: MCTP2
MCTP2 		multiple C2 and transmembrane domain containing 2 0.623 0.577 6.0E-52
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		disease 0.100 None 0 0
Entrez Id: 55784
Gene Symbol: MCTP2
MCTP2 		multiple C2 and transmembrane domain containing 2 0.623 0.577 6.0E-52
CUI: C0856975
Disease: Autistic behavior
Autistic behavior 		disease 0.100 None 0 0
Entrez Id: 55784
Gene Symbol: MCTP2
MCTP2 		multiple C2 and transmembrane domain containing 2 0.623 0.577 6.0E-52
CUI: C0848558
Disease: Hypospadias
Hypospadias 		disease 0.100 None 0 0
Entrez Id: 55784
Gene Symbol: MCTP2
MCTP2 		multiple C2 and transmembrane domain containing 2 0.623 0.577 6.0E-52
CUI: C0576093
Disease: Knee joint valgus deformity
Knee joint valgus deformity 		disease 0.100 None 0 0
Entrez Id: 55784
Gene Symbol: MCTP2
MCTP2 		multiple C2 and transmembrane domain containing 2 0.623 0.577 6.0E-52
CUI: C0575802
Disease: Small hand
Small hand 		phenotype 0.100 None 0 0
Entrez Id: 55784
Gene Symbol: MCTP2
MCTP2 		multiple C2 and transmembrane domain containing 2 0.623 0.577 6.0E-52
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 0 0
Entrez Id: 55784
Gene Symbol: MCTP2
MCTP2 		multiple C2 and transmembrane domain containing 2 0.623 0.577 6.0E-52
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		phenotype 0.100 None 0 0
Entrez Id: 55784
Gene Symbol: MCTP2
MCTP2 		multiple C2 and transmembrane domain containing 2 0.623 0.577 6.0E-52
CUI: C0432040
Disease: Simple syndactyly of toes, first web space
Simple syndactyly of toes, first web space 		disease 0.100 None 0 0
Entrez Id: 55784
Gene Symbol: MCTP2
MCTP2 		multiple C2 and transmembrane domain containing 2 0.623 0.577 6.0E-52
CUI: C0426429
Disease: Broad nasal tip
Broad nasal tip 		phenotype 0.100 None 0 0
Entrez Id: 55784
Gene Symbol: MCTP2
MCTP2 		multiple C2 and transmembrane domain containing 2 0.623 0.577 6.0E-52
CUI: C1836308
Disease: Generalized joint laxity
Generalized joint laxity 		phenotype 0.100 None 0 0
Entrez Id: 55784
Gene Symbol: MCTP2
MCTP2 		multiple C2 and transmembrane domain containing 2 0.623 0.577 6.0E-52
CUI: C1837402
Disease: Flat occiput
Flat occiput 		phenotype 0.100 None 0 0
Entrez Id: 55784
Gene Symbol: MCTP2
MCTP2 		multiple C2 and transmembrane domain containing 2 0.623 0.577 6.0E-52
CUI: C4476848
Disease: Low 1-minute APGAR score
Low 1-minute APGAR score 		phenotype 0.100 None 0 0
Entrez Id: 55784
Gene Symbol: MCTP2
MCTP2 		multiple C2 and transmembrane domain containing 2 0.623 0.577 6.0E-52
CUI: C4072897
Disease: Decreased serum insulin-like growth factor 1
Decreased serum insulin-like growth factor 1 		phenotype 0.100 None 0 0
Entrez Id: 55784
Gene Symbol: MCTP2
MCTP2 		multiple C2 and transmembrane domain containing 2 0.623 0.577 6.0E-52
CUI: C4020968
Disease: Abnormal localization of kidney
Abnormal localization of kidney 		disease 0.100 None 0 0
Entrez Id: 55784
Gene Symbol: MCTP2
MCTP2 		multiple C2 and transmembrane domain containing 2 0.623 0.577 6.0E-52
CUI: C3714581
Disease: Multicystic Dysplastic Kidney
Multicystic Dysplastic Kidney 		disease 0.100 None 0 0
Entrez Id: 55784
Gene Symbol: MCTP2
MCTP2 		multiple C2 and transmembrane domain containing 2 0.623 0.577 6.0E-52
CUI: C3165091
Disease: Double outlet right ventricle with doubly committed ventricular septal defect and pulmonary stenosis
Double outlet right ventricle with doubly committed ventricular septal defect and pulmonary stenosis 		disease 0.100 None 0 0
Entrez Id: 55784
Gene Symbol: MCTP2
MCTP2 		multiple C2 and transmembrane domain containing 2 0.623 0.577 6.0E-52
CUI: C3163801
Disease: Abnormality of aortic arch
Abnormality of aortic arch 		disease 0.100 None 0 0
Entrez Id: 55784
Gene Symbol: MCTP2
MCTP2 		multiple C2 and transmembrane domain containing 2 0.623 0.577 6.0E-52
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		phenotype 0.100 None 0 0
Entrez Id: 55784
Gene Symbol: MCTP2
MCTP2 		multiple C2 and transmembrane domain containing 2 0.623 0.577 6.0E-52
CUI: C1970112
Disease: Aplasia cutis congenita over the scalp vertex
Aplasia cutis congenita over the scalp vertex 		disease 0.100 None 0 0
Entrez Id: 55784
Gene Symbol: MCTP2
MCTP2 		multiple C2 and transmembrane domain containing 2 0.623 0.577 6.0E-52
CUI: C1865017
Disease: Thin upper lip vermilion
Thin upper lip vermilion 		phenotype 0.100 None 0 0