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Gene: Rapgef2 MGI:2659071

Gene Summary

Name:

Rap guanine nucleotide exchange factor (GEF) 2

Synonyms:

Pdzgef1, nRapGEP, CNRasGEF, RA-GEF-1, 5830453M24Rik

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype	Allele	Zyg	Life Stage	P Value
decreased exploration in new environment	Rapgef2^em1(IMPC)H	HET	Early adult	6.87×10^-05
abnormal retina morphology	Rapgef2^em1(IMPC)H	HET	Early adult	1.15×10^-16
preweaning lethality, complete penetrance	Rapgef2^em1(IMPC)H	HOM	Early adult	0.00
embryonic lethality prior to tooth bud stage	Rapgef2^em1(IMPC)H	HOM	E12.5	0.00
increased circulating bilirubin level	Rapgef2^em1(IMPC)H	HET	Early adult	7.47×10^-06

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lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

OPT E9.5

Embryo reconstruction

5 Images

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Human diseases caused by Rapgef2 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

Human diseases associated with Rapgef2 (1 diseases)
Human diseases predicted to be associated with Rapgef2 (330 diseases)

The table below shows human diseases associated to Rapgef2 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Epilepsy, Familial Adult Myoclonic, 7			OMIM:618075

The table below shows human diseases predicted to be associated to Rapgef2 by phenotypic similarity.

Disease	Matching phenotypes	Source
Retinal Dysplasia, Primary	Retinal dysplasia, Falciform retinal fold	OMIM:312550
Crigler-Najjar Syndrome Type 2	Unconjugated hyperbilirubinemia, Neonatal hyperbilirubinemia	ORPHA:79235
Congenital Herpes Simplex Virus Infection	Microcephaly, Intrauterine growth retardation, Hydranencephaly, Premature birth	ORPHA:293
Malaria	Elevated circulating C-reactive protein concentration, Hyperbilirubinemia, Retinopathy, Cognitive...	ORPHA:673
Hyperbilirubinemia, Transient Familial Neonatal	Neonatal unconjugated hyperbilirubinemia	OMIM:237900
Jaundice, Familial Obstructive, Of Infancy	Neonatal hyperbilirubinemia	OMIM:308600
Hyperbilirubinemia, Conjugated, Type Iii	Conjugated hyperbilirubinemia	OMIM:237550
Anencephaly 1	Anencephaly, Spina bifida	OMIM:206500
Stargardt Disease 1	Retinitis pigmentosa inversa, Macular degeneration, Bull's eye maculopathy	OMIM:248200
Spina Bifida-Hypospadias Syndrome	Spinal dysraphism, Spina bifida	ORPHA:3176
Hydrocephalus, Congenital, 3, With Brain Anomalies	Hydranencephaly, Cerebellar agenesis, Cerebellar hypoplasia, Hydrocephalus, Polyhydramnios, Holop...	OMIM:617967
Glutathione Peroxidase Deficiency	Neonatal hyperbilirubinemia	OMIM:614164
Hypercholanemia, Familial, 2	Unconjugated hyperbilirubinemia, Increased serum bile acid concentration	OMIM:619256
Crigler-Najjar Syndrome Type 1	Unconjugated hyperbilirubinemia, Neonatal hyperbilirubinemia, Memory impairment	ORPHA:79234
Neural Tube Defects, Folate-Sensitive	Spinal dysraphism	OMIM:601634
Neural Tube Defects, Susceptibility To	Myelomeningocele, Spina bifida occulta, Anencephaly, Hydrocephalus	OMIM:182940
Hyperbilirubinemia, Rotor Type	Conjugated hyperbilirubinemia	OMIM:237450
Dubin-Johnson Syndrome	Conjugated hyperbilirubinemia	OMIM:237500
Cholestasis, Progressive Familial Intrahepatic, 11	Abnormal circulating bilirubin concentration, Increased serum bile acid concentration	OMIM:619874
Hemolytic Anemia Due To Glutathione Reductase Deficiency	Hyperbilirubinemia	OMIM:618660
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome	Anencephaly, Spina bifida	ORPHA:2476
Crigler-Najjar Syndrome, Type Ii	Unconjugated hyperbilirubinemia	OMIM:606785
Frontal Encephalocele	Aplasia/Hypoplasia of the corpus callosum, Cerebral calcification, Encephalocele, Hydrocephalus, ...	ORPHA:1931
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs	Microcephaly, Hydranencephaly, Truncus arteriosus	OMIM:601355
Schisis Association	Encephalocele, Microcephaly, Spina bifida, Anencephaly, Premature birth	ORPHA:63862
Isolated Anencephaly/Exencephaly	Anencephaly	ORPHA:1048
Rotor Syndrome	Hyperbilirubinemia, Conjugated hyperbilirubinemia	ORPHA:3111
Diprosopus	Anencephaly	ORPHA:1681
Crigler-Najjar Syndrome, Type I	Unconjugated hyperbilirubinemia	OMIM:218800
Anencephaly 2	Anencephaly	OMIM:619452
Ophthalmoplegia, External, And Myopia	Spina bifida	OMIM:311000
Placental Insufficiency	Small placenta, Intrauterine growth retardation, Abnormal placenta morphology, Abnormal umbilical...	ORPHA:439167
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome	Cerebral cortical atrophy, Hydranencephaly, Aplasia/Hypoplasia of the corpus callosum, Intrauteri...	ORPHA:2570
Exudative Vitreoretinopathy 7	Exudative vitreoretinopathy, Retinal degeneration, Retinal detachment, Retinal hole, Retinal fold	OMIM:617572
Hydrolethalus Syndrome 2	Anencephaly, Hydrocephalus, Agenesis of corpus callosum	OMIM:614120
Meckel Syndrome, Type 4	Agenesis of cerebellar vermis, Intrauterine growth retardation, Encephalocele, Hypoplasia of the ...	OMIM:611134
Aminopterin/Methotrexate Embryofetopathy	Spinal dysraphism, Aplasia/Hypoplasia of the corpus callosum, Intrauterine growth retardation, En...	ORPHA:1908
Cholestasis, Progressive Familial Intrahepatic, 12	Hyperbilirubinemia, Conjugated hyperbilirubinemia, Increased serum bile acid concentration	OMIM:620010
Retinoschisis 1, X-Linked, Juvenile	Mizuo phenomenon, Retinal degeneration, Vitreous hemorrhage, Retinal atrophy, Retinal detachment,...	OMIM:312700
Acalvaria	Hydrocephalus, Holoprosencephaly, Spina bifida, Aplasia/Hypoplasia of the cerebellum	ORPHA:945
Exudative Vitreoretinopathy 3	Retinal exudate, Exudative vitreoretinopathy, Retinal detachment, Retinal hole, Retinal fold	OMIM:605750
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome	Hydranencephaly, Polymicrogyria, Hypoplasia of the brainstem, Intrauterine growth retardation, Ag...	OMIM:225790
Red Cell Phospholipid Defect With Hemolysis	Hyperbilirubinemia	OMIM:179700
Microhydranencephaly	Hydranencephaly, Hypoplasia of the brainstem, Agenesis of corpus callosum, Cerebellar hypoplasia,...	OMIM:605013
Craniorachischisis	Spinal dysraphism, Myelomeningocele, Sirenomelia, Cervical spina bifida, Anencephaly	ORPHA:63260
Distal Deletion 13Q	Aplasia/Hypoplasia of the corpus callosum, Encephalocele, Microcephaly, Holoprosencephaly, Anence...	ORPHA:1590
Meckel Syndrome, Type 2	Intrauterine growth retardation, Encephalocele, Meningocele, Anencephaly, Dandy-Walker malformation	OMIM:603194
Edinburgh Malformation Syndrome	Neonatal hyperbilirubinemia	OMIM:129850
Late-Onset Retinal Degeneration	Choroidal neovascularization, Retinopathy, Retinal degeneration, Chorioretinal degeneration, Sub-...	OMIM:605670
Gilbert Syndrome	Unconjugated hyperbilirubinemia	OMIM:143500
X-Linked Retinal Dysplasia	Retinal dysplasia, Abnormal retinal vascular morphology, Abnormality of retinal pigmentation	ORPHA:1852
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome	Pigmentary retinopathy, Neonatal hyperbilirubinemia, Retinal degeneration	ORPHA:3363
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly	Hydranencephaly, Hypoplasia of the brainstem, Oligohydramnios, Neonatal death, Cerebellar hypopla...	OMIM:236500
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases	Spina bifida	OMIM:211960
Cholestasis, Progressive Familial Intrahepatic, 10	Hypoalbuminemia, Increased total bilirubin, Increased serum bile acid concentration, Hypercholest...	OMIM:619868
Familial Drusen	Peripapillary chorioretinal atrophy, Choroidal neovascularization, Subretinal fluid, Reticular pi...	ORPHA:75376
Meckel Syndrome, Type 10	Cerebellar hypoplasia, Occipital encephalocele, Dandy-Walker malformation, Anencephaly	OMIM:614175
Retinopathy, Pericentral Pigmentary, Dominant	Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinopathy, Retinal atrophy, Bone ...	OMIM:180210
Hydrolethalus	Absent septum pellucidum, Agenesis of corpus callosum, Hydrocephalus, Polyhydramnios, Anencephaly...	ORPHA:2189
Nevus Comedonicus Syndrome	Spina bifida occulta, Microcephaly, Spina bifida	ORPHA:64754
Meckel Syndrome, Type 5	Occipital encephalocele, Anencephaly	OMIM:611561
Birdshot Chorioretinopathy	Abnormal chorioretinal morphology, Choroidal neovascularization, Retinal thinning, Epiretinal mem...	ORPHA:179
Growth Delay-Intellectual Disability-Hepatopathy Syndrome	Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Chole...	ORPHA:541423
Chiari Malformation Type Ii	Cervical myelopathy, Myelomeningocele, Agenesis of corpus callosum, Syringomyelia, Hydrocephalus,...	OMIM:207950
Citrullinemia, Type Ii, Neonatal-Onset	Hypermethioninemia, Decreased HDL cholesterol concentration, Hyperbilirubinemia, Hyperthreoninemi...	OMIM:605814
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Small placenta, Microcephaly, Intrauterine growth retardation, Severe intrauterine growth retarda...	ORPHA:73272
Hyperbilirubinemia, Shunt, Primary	Hyperbilirubinemia	OMIM:237800
Caudal Duplication	Myelomeningocele, Spinal cord lesion, Spina bifida	ORPHA:1756
Iniencephaly	Lissencephaly, Spinal dysraphism, Myelomeningocele, Encephalocele, Syringomyelia, Spina bifida, H...	ORPHA:63259
Silver-Russell Syndrome Due To A Point Mutation	Small placenta, Intrauterine growth retardation, Oligohydramnios	ORPHA:397590
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Bone marrow hypocellularity, Intestinal bleeding, Oral leukoplakia, Intrauterine growth retardati...	OMIM:612199
Aplasia Cutis Congenita	Spinal dysraphism	ORPHA:1114
Retinitis Pigmentosa 70	Macular degeneration, Attenuation of retinal blood vessels, Retinal degeneration, Rod-cone dystro...	OMIM:615922
Intellectual Developmental Disorder, Autosomal Dominant 72	Microcephaly, Spina bifida	OMIM:620439
Chromosome 13Q33-Q34 Deletion Syndrome	Encephalocele, Agenesis of corpus callosum, Microcephaly, Anencephaly, Patent ductus arteriosus, ...	OMIM:619148
Cerebrocostomandibular Syndrome	Hydranencephaly, Myelomeningocele, Intrauterine growth retardation, Cerebral calcification, Poren...	ORPHA:1393
Acropectorovertebral Dysplasia	Spina bifida	ORPHA:957
Vacterl/Vater Association	Occipital encephalocele, Intrauterine growth retardation, Single umbilical artery, Polyhydramnios...	ORPHA:887
Polycystic Liver Disease 1 With Or Without Kidney Cysts	Increased total bilirubin	OMIM:174050
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Cerebellar vermis hypoplasia, Polymicrogyria, Hypoplasia of the brainstem, Occipital meningocele,...	OMIM:616546
Thoracoabdominal Syndrome	Hydrocephalus, Anencephaly, Patent ductus arteriosus	OMIM:313850
Isolated Klippel-Feil Syndrome	Spina bifida	ORPHA:2345
Limb Body Wall Complex	Amniotic constriction ring, Myelomeningocele, Abnormal insertion of umbilical cord, Encephalocele...	ORPHA:2369
Biliary Atresia, Extrahepatic	Unconjugated hyperbilirubinemia, Hyperbilirubinemia, Increased total bilirubin	OMIM:210500
Liver Disease, Severe Congenital	Portal inflammation, Dilatation of the ventricular cavity, Hepatic steatosis, Ventricular septal ...	OMIM:619991
Amish Lethal Microcephaly	Cerebellar vermis hypoplasia, Decreased fetal movement, Agenesis of corpus callosum, Microcephaly...	ORPHA:99742
Retinitis Pigmentosa 13	Attenuation of retinal blood vessels, Asteroid hyalosis, Cystoid macular edema, Retinal degenerat...	OMIM:600059
Pelvis-Shoulder Dysplasia	Hydrocephalus, Hydranencephaly, Spina bifida	ORPHA:2839
De Barsy Syndrome	Umbilical hernia, Intrauterine growth retardation, Excessive wrinkled skin, Ventricular septal de...	ORPHA:2962
Camptodactyly Syndrome, Guadalajara Type 1	Microcephaly, Intrauterine growth retardation, Spina bifida	ORPHA:1327
Short-Rib Thoracic Dysplasia 12	Intrauterine growth retardation, Splenomegaly, Neonatal death, Hydrocephalus, Polyhydramnios, Hol...	OMIM:269860
Cholestasis, Benign Recurrent Intrahepatic, 1	Conjugated hyperbilirubinemia, Increased serum bile acid concentration	OMIM:243300
Cutis Laxa, Autosomal Dominant 3	Dermal translucency, Intrauterine growth retardation, Cutis laxa, Premature skin wrinkling	OMIM:616603
Pentalogy Of Cantrell	Hydrocephalus, Anencephaly, Encephalocele, Polysplenia	ORPHA:1335
Isolated Polycystic Liver Disease	Increased total bilirubin	ORPHA:2924
Bile Acid Synthesis Defect, Congenital, 5	Hyperbilirubinemia, Increased serum bile acid concentration, Increased total iron binding capacity	OMIM:616278
Hepatic Veno-Occlusive Disease	Increased total bilirubin	ORPHA:890
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1	Dermal translucency, Atrial septal defect	OMIM:619115
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Hydromyelia, Occipital encephalocele, Hypoplasia of the brainstem, Type II lissencephaly, Agenesi...	OMIM:615287
Cutis Laxa, Autosomal Recessive, Type Iiib	Intrauterine growth retardation, Excessive wrinkled skin, Cutis laxa, Dermal translucency, Pylori...	OMIM:614438
Meckel Syndrome, Type 6	Occipital encephalocele, Hydrocephalus, Anencephaly	OMIM:612284
Neu-Laxova Syndrome 1	Hydranencephaly, Small placenta, Intrauterine growth retardation, Polyhydramnios, Short umbilical...	OMIM:256520
Anophthalmia Plus Syndrome	Spina bifida	ORPHA:1104
Lipoyltransferase 1 Deficiency	Hyperprolinemia, Hyperglutaminemia, Increased total bilirubin	OMIM:616299
Megaloblastic Anemia, Folate-Responsive	Hyperbilirubinemia, Hyperhomocystinemia, Increased circulating ferritin concentration	OMIM:601775
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Patent ductus arteriosus, Spina bifida	ORPHA:1120
Meckel Syndrome, Type 1	Accessory spleen, Cerebral hypoplasia, Occipital encephalocele, Intrauterine growth retardation, ...	OMIM:249000
Trisomy 18	Aplasia/Hypoplasia of the corpus callosum, Intrauterine growth retardation, Oligohydramnios, Micr...	ORPHA:3380
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration, Hypermethioninemia, Abnorm...	ORPHA:247598
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome	Dermal translucency	ORPHA:529965
Cholestasis-Lymphedema Syndrome	Hyperlipidemia, Conjugated hyperbilirubinemia	OMIM:214900
Sirenomelia	Sirenomelia, Spina bifida	ORPHA:3169
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2	Bifid uvula, Hypertrophic cardiomyopathy, Patent foramen ovale, Ventricular septal defect, Atrial...	OMIM:617506
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 2	Dermal translucency	OMIM:619120
Pilarowski-Bjornsson Syndrome	Dermal translucency	OMIM:617682
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity	Hydranencephaly, Reduced cerebral white matter volume, Polymicrogyria, Periventricular cysts, Bas...	OMIM:620371
Ehlers-Danlos Syndrome, Dermatosparaxis Type	Dermal translucency, Redundant skin, Umbilical hernia	OMIM:225410
Fontaine Progeroid Syndrome	High, narrow palate, Anteriorly placed anus, Umbilical hernia, Premature skin wrinkling, Abnormal...	OMIM:612289
Exudative Vitreoretinopathy 2, X-Linked	Exudative vitreoretinopathy, Peripheral retinal avascularization, Retinal vascular tortuosity, Su...	OMIM:305390
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation	Polyhydramnios, Large placenta, Umbilical hernia	ORPHA:254534
Neu-Laxova Syndrome 2	Intrauterine growth retardation, Decreased fetal movement, Cerebellar hypoplasia, Microcephaly, S...	OMIM:616038
Fetal Akinesia Deformation Sequence 1	Cavum septum pellucidum, Small placenta, Intrauterine growth retardation, Increased nuchal transl...	OMIM:208150
Czeizel-Losonci Syndrome	Myelomeningocele, Spina bifida, Hydrocephalus, Thickened nuchal skin fold, Spina bifida occulta	ORPHA:2437
Reese Retinal Dysplasia	Retinal dysplasia, Remnants of the hyaloid vascular system	OMIM:266400
Bile Acid Conjugation Defect 1	Conjugated hyperbilirubinemia	OMIM:619232
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis	Hyperbilirubinemia, Irritability, Increased serum bile acid concentration	OMIM:619685
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Elevated transferrin saturation, Unconjugated hyperbilirubinemia, Increased circulating iron conc...	ORPHA:766
Aprosencephaly Syndrome	Aprosencephaly, Anencephaly	OMIM:207770
Diabetic Embryopathy	Spinal dysraphism, Aplasia/Hypoplasia of the corpus callosum, Microcephaly, Aplasia/Hypoplasia of...	ORPHA:1926
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Hyperbilirubinemia, Retinal dystrophy	ORPHA:713
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome	Dermal translucency, Pulmonic stenosis, Polymicrogyria	OMIM:618343
Hypermethioninemia Due To Adenosine Kinase Deficiency	Hypermethioninemia, Elevated circulating S-adenosyl-L-homocysteine concentration, Hyperbilirubine...	OMIM:614300
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2	Dermal translucency, Cutis laxa, Cleft palate	OMIM:615349
Fountain Syndrome	Spina bifida occulta, Spina bifida	ORPHA:3219
Waardenburg Syndrome Type 1	Meningocele, Spina bifida	ORPHA:894
Exudative Vitreoretinopathy 1	Retinal exudate, Exudative vitreoretinopathy, Ectopic fovea, Posterior vitreous detachment, Vitre...	OMIM:133780
Mosaic Trisomy 9	Intrauterine growth retardation, Oligohydramnios, Microcephaly, Spina bifida, Single umbilical ar...	ORPHA:99776
Hijazi-Reis Syndrome	Hyperbilirubinemia	OMIM:301094
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Dermal translucency, High palate, Hydrocephalus, Mitral valve prolapse	ORPHA:536467
Fetal Cytomegalovirus Syndrome	Retinal hemorrhage, Optic atrophy, Conjugated hyperbilirubinemia, Chorioretinitis	ORPHA:294
Meckel Syndrome	Accessory spleen, Aplasia/Hypoplasia of the corpus callosum, Oligohydramnios, Encephalocele, Micr...	ORPHA:564
Vitreoretinal Degeneration, Snowflake Type	Snowflake vitreoretinal degeneration, Retinal detachment, Retinal dots, Optically empty vitreous	OMIM:193230
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To	Hyperbilirubinemia	OMIM:266120
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Dermal translucency	OMIM:137940
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hypoalbuminemia, Increased circulating ferritin concentration, Increased total bilirubin, Decreas...	OMIM:267700
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Hypoalbuminemia, Hyperkalemia, Conjugated hyperbilirubinemia, Increased total bilirubin	OMIM:618528
Rh-Null, Regulator Type	Unconjugated hyperbilirubinemia	OMIM:268150
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies	Abnormal circulating thyroglobulin concentration, Conjugated hyperbilirubinemia	ORPHA:95715
Spherocytosis, Type 4	Hyperbilirubinemia	OMIM:612653
Chromosome 17P13.1 Deletion Syndrome	Umbilical hernia, Oligohydramnios, Decreased fetal movement, Diffuse cerebral atrophy, Microcepha...	OMIM:613776
Neu-Laxova Syndrome	Abnormal cortical gyration, Polymicrogyria, Intrauterine growth retardation, Cerebral calcificati...	ORPHA:2671
Loeys-Dietz Syndrome 6	Bifid uvula, Ventricular hypertrophy, Broad uvula, Umbilical hernia, Striae distensae, Bicuspid a...	OMIM:619656
Autosomal Dominant Spastic Paraplegia Type 29	Hyperbilirubinemia	ORPHA:101009
Rh-Null, Amorph Type	Hyperbilirubinemia	OMIM:617970
Liver Failure, Infantile, Transient	Hypoalbuminemia, Hyperbilirubinemia, Irritability	OMIM:613070
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To	Hyperbilirubinemia	OMIM:301083
Cousin Syndrome	Hydranencephaly, Hydrocephalus	OMIM:260660
Restrictive Dermopathy	Microcolon, Small placenta, Intrauterine growth retardation, Large placenta, Short umbilical cord...	ORPHA:1662
Idiopathic Congenital Hypothyroidism	Neonatal hyperbilirubinemia	ORPHA:95717
Cholestasis, Benign Recurrent Intrahepatic, 2	Conjugated hyperbilirubinemia	OMIM:605479
Elliptocytosis 2	Neonatal hyperbilirubinemia	OMIM:130600
Harderoporphyria	Neonatal hyperbilirubinemia, Increased circulating ferritin concentration	OMIM:618892
Loeys-Dietz Syndrome 2	Bifid uvula, Umbilical hernia, Striae distensae, Mitral valve prolapse, Patent foramen ovale, Eos...	OMIM:610168
Infantile Sialic Acid Storage Disease	Conjugated hyperbilirubinemia	OMIM:269920
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Elevated circulating C-reactive protein concentration, Hyperbilirubinemia, Increased circulating ...	ORPHA:158057
Barber-Say Syndrome	Velopharyngeal insufficiency, Premature skin wrinkling, Dry skin, Redundant skin, Dermal transluc...	OMIM:209885
Hydrolethalus Syndrome 1	Accessory spleen, Abnormal cortical gyration, Intrauterine growth retardation, Absent septum pell...	OMIM:236680
Loeys-Dietz Syndrome 1	Bifid uvula, Striae distensae, Mitral valve prolapse, Eosinophilic infiltration of the esophagus,...	OMIM:609192
Congenital Syphilis	Extramedullary hematopoiesis, Hepatosplenomegaly, Large placenta, Intrauterine growth retardation...	ORPHA:499009
Intrahepatic Cholestasis Of Pregnancy	Depression, Hyperbilirubinemia, Increased serum bile acid concentration	ORPHA:69665
Coloboma Of Optic Nerve	Retinal detachment, Optic disc coloboma	OMIM:120430
Spherocytosis, Type 1	Hyperbilirubinemia	OMIM:182900
Spherocytosis, Type 2	Hyperbilirubinemia	OMIM:616649
Autosomal Dominant Cutis Laxa	Small bowel diverticula, Premature skin wrinkling, Dilatation of the ventricular cavity, Intraute...	ORPHA:90348
Bachmann-Bupp Syndrome	Attention deficit hyperactivity disorder, Hyperbilirubinemia	OMIM:619075
Vacterl With Hydrocephalus	Intrauterine growth retardation, Hydrocephalus, Spina bifida, Single umbilical artery, Polyhydram...	ORPHA:3412
Congenital Bile Acid Synthesis Defect Type 2	Hyperbilirubinemia, Conjugated hyperbilirubinemia, Abnormal serum bile acid concentration	ORPHA:79303
Cutis Laxa, Autosomal Recessive, Type Ib	Neonatal death, Cutis laxa, Spina bifida, Dermal translucency, High palate, Right ventricular dil...	OMIM:614437
Bile Acid Synthesis Defect, Congenital, 4	Hyperbilirubinemia, Decreased serum bile acid concentration	OMIM:214950
Car T Cell Therapy-Associated Cytokine Release Syndrome	Confusion, Elevated circulating creatinine concentration, Hyperbilirubinemia	ORPHA:542323
Trisomy 20P	Spina bifida, Umbilical hernia	ORPHA:261318
Hepatoportal Sclerosis	Hypoalbuminemia, Hyperbilirubinemia, Cognitive impairment	ORPHA:64743
Bile Acid Synthesis Defect, Congenital, 2	Hyperbilirubinemia	OMIM:235555
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1	Microcephaly, Spinal dysraphism, Tethered cord	OMIM:617660
Cholestasis, Progressive Familial Intrahepatic, 6	Conjugated hyperbilirubinemia	OMIM:619484
Congenital Dyserythropoietic Anemia Type Iii	Increased circulating iron concentration, Hyperbilirubinemia, Increased total iron binding capacity	ORPHA:98870
Dubin-Johnson Syndrome	Conjugated hyperbilirubinemia	ORPHA:234
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Conjugated hyperbilirubinemia, Elevated hepatic iron concentration, Increased circulating ferriti...	OMIM:616860
Drug-Induced Autoimmune Hemolytic Anemia	Increased total bilirubin	ORPHA:90037
Glycogen Storage Disease Vii	Increased total bilirubin, Hyperuricemia, Elevated circulating creatine kinase concentration	OMIM:232800
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion	Polyhydramnios, Intrauterine growth retardation, Large placenta, Umbilical hernia	ORPHA:254528
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi	Spinal dysraphism, Tethered cord, Splenomegaly	OMIM:612918
Distal Xq28 Microduplication Syndrome	Attention deficit hyperactivity disorder, Neonatal hyperbilirubinemia, Depression	ORPHA:293939
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Hyperbilirubinemia	OMIM:235700
Wiedemann-Rautenstrauch Syndrome	Premature skin wrinkling, Polymicrogyria, Intrauterine growth retardation, Hepatic steatosis, Sub...	ORPHA:3455
Fibular Hemimelia	Spina bifida, Thrombocytopenia	ORPHA:93323
Phakomatosis Pigmentokeratotica	Spina bifida	ORPHA:2874
Lumbar Syndrome	Myelomeningocele, Spina bifida	ORPHA:83628
Focal Dermal Hypoplasia	Patent ductus arteriosus, Spina bifida, Umbilical hernia	ORPHA:2092
Cholestasis, Progressive Familial Intrahepatic, 5	Conjugated hyperbilirubinemia, Hyperammonemia, Elevated circulating alpha-fetoprotein concentration	OMIM:617049
Hypermanganesemia With Dystonia 1	Unconjugated hyperbilirubinemia, Hypermanganesemia, Increased total iron binding capacity	OMIM:613280
Congenital Bile Acid Synthesis Defect Type 3	Hyperbilirubinemia	ORPHA:79302
Ring Chromosome 13 Syndrome	Microcephaly, Anencephaly, Agenesis of corpus callosum	ORPHA:96176
Mosaic Trisomy 16	Intrauterine growth retardation, Large placenta, Single umbilical artery, Patent ductus arteriosu...	ORPHA:1708
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair	Hyperbilirubinemia	OMIM:609734
Thrombocytopenia-Absent Radius Syndrome	Cerebellar vermis hypoplasia, Hepatosplenomegaly, Leukocytosis, Syringomyelia, Cerebellar hypopla...	OMIM:274000
Cholestasis, Progressive Familial Intrahepatic, 8	Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentration, Conjugated hyperbilir...	OMIM:619662
Peroxisome Biogenesis Disorder 12A (Zellweger)	Elevated circulating long chain fatty acid concentration, Hyperbilirubinemia	OMIM:614886
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hypoalbuminemia, Increased total bilirubin, Increased circulating ferritin concentration, Irritab...	OMIM:603553
Loeys-Dietz Syndrome 3	Bifid uvula, Ventricular hypertrophy, Umbilical hernia, Striae distensae, Mitral valve prolapse, ...	OMIM:613795
Fibromuscular Dysplasia, Multifocal	Hiatus hernia, Dermal translucency, High palate, Striae distensae	OMIM:619329
Fructose-1,6-Bisphosphatase Deficiency	Neonatal hyperbilirubinemia, Hyperalaninemia, Hyperuricemia, Irritability	ORPHA:348
Pagod Syndrome	Abnormality of the spleen, Encephalocele, Microcephaly, Spina bifida, Meningocele	ORPHA:991
Waardenburg Syndrome, Type 1	Myelomeningocele, Spina bifida	OMIM:193500
Familial Thyroid Dyshormonogenesis	Abnormal circulating thyroglobulin concentration, Neonatal hyperbilirubinemia	ORPHA:95716
Fanconi Anemia	Umbilical hernia, Leukopenia, Intrauterine growth retardation, Oligohydramnios, Microcephaly, Spi...	ORPHA:84
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Hypoalbuminemia, Hypermethioninemia, Hyperbilirubinemia, Hypertyrosinemia, Conjugated hyperbiliru...	OMIM:617156
Fanconi-Bickel Syndrome	Hypouricemia, Hyperbilirubinemia, Increased serum bile acid concentration, Hypokalemia, Hypophosp...	OMIM:227810
Dehydrated Hereditary Stomatocytosis 2	Hyperbilirubinemia	OMIM:616689
Mixed-Type Autoimmune Hemolytic Anemia	Increased total bilirubin	ORPHA:90036
Nail-Patella Syndrome	Spina bifida	OMIM:161200
Trichohepatoenteric Syndrome 1	Intrauterine growth retardation, Large placenta, Abnormalities of placenta or umbilical cord, Spl...	OMIM:222470
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum	Tethered cord, Spina bifida, Partial agenesis of the corpus callosum, Thin corpus callosum, Paten...	OMIM:619480
Abetalipoproteinemia	Hypoalbuminemia, Hypotriglyceridemia, Hypopigmentation of the fundus, Hypocholesterolemia, Abnorm...	ORPHA:14
Wolcott-Rallison Syndrome	Hypoalbuminemia, Hyperbilirubinemia, Hyponatremia, Hyperammonemia	ORPHA:1667
Cloacal Exstrophy	Myelomeningocele, Spina bifida	ORPHA:93929
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Periventricular leukomalacia, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Tru...	ORPHA:508498
Dehydrated Hereditary Stomatocytosis	Cholelithiasis, Increased mean corpuscular volume, Polycythemia, Increased mean corpuscular hemog...	ORPHA:3202
Vater/Vacterl Association	Occipital encephalocele, Tethered cord, Intrauterine growth retardation, Spina bifida, Single umb...	OMIM:192350
Osteopetrosis, Autosomal Recessive 5	Optic atrophy, Hyperbilirubinemia, Hypocalcemia, Irritability, Optic disc pallor	OMIM:259720
Relapsing Fever	Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentrat...	ORPHA:91547
Cholestasis, Progressive Familial Intrahepatic, 2	Conjugated hyperbilirubinemia	OMIM:601847
Ehlers-Danlos Syndrome, Vascular Type	Anemia, Dermal translucency, Mitral valve prolapse, Ecchymosis	OMIM:130050
Aicardi Syndrome	Cerebellar vermis hypoplasia, Polymicrogyria, Microcephaly, Spina bifida, Cavum septum pellucidum...	OMIM:304050
Ulnar Hemimelia	Spinal dysraphism	ORPHA:93320
Jacobsen Syndrome	Cerebral atrophy, Intrauterine growth retardation, Agenesis of corpus callosum, Spina bifida, Thr...	ORPHA:2308
Pyruvate Carboxylase Deficiency	Neonatal hyperbilirubinemia, Hyperammonemia, Hyperglutamatemia, Hyperprolinemia, Hypoglutaminemia...	ORPHA:3008
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2	Spinal dysraphism	OMIM:603546
Cholestasis, Progressive Familial Intrahepatic, 1	Conjugated hyperbilirubinemia	OMIM:211600
Basal Cell Nevus Syndrome 1	Hydrocephalus, Calcification of falx cerebri, Spina bifida	OMIM:109400
Bile Acid Synthesis Defect, Congenital, 1	Hypocholesterolemia, Conjugated hyperbilirubinemia	OMIM:607765
Sacral Defect With Anterior Meningocele	Hydromyelia, Tethered cord, Myelomeningocele, Myeloschisis, Hydrocephalus, Meningocele, Dermal si...	OMIM:600145
Hallermann-Streiff Syndrome	Microcephaly, Spina bifida	OMIM:234100
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Increased total bilirubin, Elevated circulating creatinine concentration, Decreased plasma free c...	OMIM:608836
Spastic Paraplegia 29, Autosomal Dominant	Neonatal hyperbilirubinemia	OMIM:609727
22Q11.2 Deletion Syndrome	Umbilical hernia, Intrauterine growth retardation, Splenomegaly, Truncus arteriosus, Hypoplasia o...	ORPHA:567
Kagami-Ogata Syndrome	Polyhydramnios, Large placenta, Premature birth	ORPHA:254519
Pyruvate Kinase Deficiency Of Red Cells	Unconjugated hyperbilirubinemia, Reduced haptoglobin level	OMIM:266200
Overhydrated Hereditary Stomatocytosis	Hyperbilirubinemia	OMIM:185000
Graft Versus Host Disease	Hyperbilirubinemia, Irritability	ORPHA:39812
Greenberg Dysplasia	Hepatosplenomegaly, Large placenta, Increased nuchal translucency, Neonatal death, Nonimmune hydr...	OMIM:215140
Chronic Bilirubin Encephalopathy	Hypoalbuminemia, Neonatal hyperbilirubinemia, Hypernatremia	ORPHA:529808
Acute Bilirubin Encephalopathy	Hypoalbuminemia, Neonatal hyperbilirubinemia, Hypernatremia	ORPHA:529799
Autoimmune Hepatitis	Depression, Increased total bilirubin	ORPHA:2137
Isolated Thyroid-Stimulating Hormone Deficiency	Neonatal hyperbilirubinemia, Depression, Abnormal circulating thyroglobulin concentration, Attent...	ORPHA:90674
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Hypoalbuminemia, Conjugated hyperbilirubinemia, Hyperammonemia, Decreased serum zinc	OMIM:617093
Bile Acid Synthesis Defect, Congenital, 3	Hyperbilirubinemia	OMIM:613812
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Conjugated hyperbilirubinemia	OMIM:613404
Anemia, Congenital Dyserythropoietic, Type Iv	Unconjugated hyperbilirubinemia, Hyperbilirubinemia, Reduced haptoglobin level	OMIM:613673
Pituitary Hormone Deficiency, Combined, 6	Hyperbilirubinemia	OMIM:613986
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Hypoalbuminemia, Hyperbilirubinemia, Elevated circulating alpha-fetoprotein concentration	OMIM:251880
Lathosterolosis	Elevated circulating lathosterol concentration, Hyperbilirubinemia, Hyperammonemia	OMIM:607330
Restrictive Dermopathy 1	Premature rupture of membranes, Spontaneous chorioamniotic separation, Intrauterine growth retard...	OMIM:275210
Peroxisome Biogenesis Disorder 13A (Zellweger)	Increased circulating very long-chain fatty acid concentration, Conjugated hyperbilirubinemia	OMIM:614887
Holoprosencephaly	Spinal dysraphism, Aplasia/Hypoplasia of the corpus callosum, Abnormality of the spleen, Branchia...	ORPHA:2162
Peroxisome Biogenesis Disorder 5A (Zellweger)	Optic atrophy, Pigmentary retinopathy, Elevated circulating phytanic acid concentration, Optic ne...	OMIM:614866
Koolen-De Vries Syndrome Due To A Point Mutation	Dural ectasia, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Microcephaly, Hydr...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Dural ectasia, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Microcephaly, Hydr...	ORPHA:363958
Hereditary Elliptocytosis	Neonatal hyperbilirubinemia, Hyperbilirubinemia	ORPHA:288
Neurofibromatosis, Type I	Hydrocephalus, Aqueductal stenosis, Spina bifida	OMIM:162200
Rh Deficiency Syndrome	Hyperbilirubinemia, Reduced haptoglobin level	ORPHA:71275
Fumarase Deficiency	Optic atrophy, Hyperbilirubinemia	OMIM:606812
Rubinstein-Taybi Syndrome 1	Accessory spleen, Polyhydramnios, Agenesis of corpus callosum, Microcephaly, Hyperintensity of ce...	OMIM:180849
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Unconjugated hyperbilirubinemia, Decreased glucose-6-phosphate dehydrogenase level in blood	OMIM:300908
Vascular Ehlers-Danlos Syndrome	High, narrow palate, Umbilical hernia, Abnormal heart valve morphology, Redundant skin, Excessive...	ORPHA:286
Femoral-Facial Syndrome	Encephalocele, Agenesis of corpus callosum, Truncus arteriosus, Spina bifida, Patent ductus arter...	OMIM:134780
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Retinal hemorrhage, Vitreous hemorrhage, Hyperbilirubinemia	ORPHA:464321
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Conjugated hyperbilirubinemia	OMIM:208085
Anemia, Congenital Dyserythropoietic, Type Ia	Hyperbilirubinemia	OMIM:224120
Glycogen Storage Disease Xii	Hyperbilirubinemia, Reduced haptoglobin level, Elevated circulating creatine kinase concentration	OMIM:611881
Campomelic Dysplasia	Polyhydramnios, Hydrocephalus, Spinal dysraphism, Spina bifida	OMIM:114290
Cartilage-Hair Hypoplasia	Anemia, Spinal dysraphism, Neutropenia	ORPHA:175
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Elevated circulating creatinine concentration, Irritability, Hypokalemia, Hyponatremia, Unconjuga...	ORPHA:90038
Cystic Echinococcosis	Hyperbilirubinemia	ORPHA:400
Mitchell-Riley Syndrome	Hyperbilirubinemia	OMIM:615710
Lissencephaly Due To Lis1 Mutation	Neonatal hyperbilirubinemia	ORPHA:95232
Isolated Posterior Meningocele	Hydromyelia, Hydrocephalus, Lipomyelomeningocele, Meningocele, Occipital meningocele, Tethered co...	ORPHA:268810
Hereditary Spherocytosis	Hyperbilirubinemia	ORPHA:822
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Depression, Chorioretinal coloboma, Hyperbilirubinemia, Short attention span, Emotional lability,...	OMIM:619475
Hypothyroidism Due To Tsh Receptor Mutations	Neonatal hyperbilirubinemia, Increased circulating thyroglobulin concentration	ORPHA:90673
Wilson Disease	Hypouricemia, Hypoalbuminemia, Hyperbilirubinemia, Increased circulating copper concentration, De...	OMIM:277900
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Spinal dysraphism, Intrauterine growth retardation, Large placenta, Hepatosplenomegaly, Microceph...	ORPHA:96334
Beckwith-Wiedemann Syndrome	Subchorionic septal cyst, Polycythemia, Umbilical hernia, Large placenta, Splenomegaly, Polyhydra...	ORPHA:116
Parenteral Nutrition-Associated Cholestasis	Hyperlipidemia, Conjugated hyperbilirubinemia, Abnormal circulating fatty-acid concentration	ORPHA:567983
Mirizzi Syndrome	Hyperbilirubinemia	ORPHA:521219
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Conjugated hyperbilirubinemia, Retinal degeneration	OMIM:208500
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Hyperkalemia, Conjugated hyperbilirubinemia	OMIM:608885
Caroli Syndrome	Hyperbilirubinemia, Conjugated hyperbilirubinemia	ORPHA:480520
Otopalatodigital Syndrome, Type Ii	Hydrocephalus, Stillbirth, Spina bifida, Umbilical hernia	OMIM:304120
Primary Biliary Cholangitis	Hypoalbuminemia, Conjugated hyperbilirubinemia, Abnormal circulating lipid concentration, Hyperch...	ORPHA:186
Ogden Syndrome	Hyperbilirubinemia, Irritability	OMIM:300855
Senior-Boichis Syndrome	Attention deficit hyperactivity disorder, Increased total bilirubin	ORPHA:84081
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Hyperbilirubinemia, Hypocalcemia	ORPHA:163979
Hardikar Syndrome	Pigmentary retinopathy, Hyperbilirubinemia, Irritability	OMIM:301068
Fructose Intolerance, Hereditary	Hypophosphatemia, Hyperbilirubinemia, Hyperuricemia, Bicarbonaturia	OMIM:229600
Exstrophy-Epispadias Complex	Hydrocephalus, Microcephaly, Spina bifida	ORPHA:322
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Hyperbilirubinemia	ORPHA:562639
Pearson Marrow-Pancreas Syndrome	Hyperbilirubinemia	OMIM:557000
Caroli Disease	Conjugated hyperbilirubinemia	ORPHA:53035
Hypothyroidism, Congenital, Nongoitrous, 2	Hyperbilirubinemia, Increased circulating thyroglobulin concentration	OMIM:218700
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Unconjugated hyperbilirubinemia, Irritability	OMIM:618278
Hereditary Cryohydrocytosis With Reduced Stomatin	Conjugated hyperbilirubinemia	ORPHA:168577
Isolated Biliary Atresia	Conjugated hyperbilirubinemia	ORPHA:30391
Sickle Cell Anemia	Unconjugated hyperbilirubinemia, Elevated circulating creatinine concentration	ORPHA:232
Reynolds Syndrome	Hyperbilirubinemia, Calcinosis	OMIM:613471
Cranioectodermal Dysplasia 2	Hyperbilirubinemia	OMIM:613610
X-Linked Intellectual Disability, Nascimento Type	Neonatal hyperbilirubinemia	ORPHA:163956
Degcags Syndrome	Hyperbilirubinemia	OMIM:619488
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Progressive neurologic deterioration, Hyperbilirubinemia	OMIM:210710
Rajab Interstitial Lung Disease With Brain Calcifications 1	Hypoalbuminemia, Unconjugated hyperbilirubinemia, Hypocalcemia	OMIM:613658
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Unconjugated hyperbilirubinemia, Optic disc coloboma	OMIM:620186
Congenital Erythropoietic Porphyria	Unconjugated hyperbilirubinemia, Abnormal circulating porphyrin concentration, Reduced haptoglobi...	ORPHA:79277
Congenital Disorder Of Glycosylation, Type Iim	Neonatal hyperbilirubinemia, Rod-cone dystrophy	OMIM:300896
Neurooculorenal Syndrome	Conjugated hyperbilirubinemia	OMIM:620305
Yellow Fever	Elevated circulating creatinine concentration, Hyperbilirubinemia, Elevated circulating creatine ...	ORPHA:99829
Autoinflammatory Disease, Systemic, With Vasculitis	Elevated circulating C-reactive protein concentration, Conjugated hyperbilirubinemia	OMIM:620376
Biliary, Renal, Neurologic, And Skeletal Syndrome	Hypoalbuminemia, Increased circulating ferritin concentration, Elevated circulating creatinine co...	OMIM:619534
Paroxysmal Nocturnal Hemoglobinuria	Increased blood urea nitrogen, Unconjugated hyperbilirubinemia, Decreased circulating iron concen...	ORPHA:447
Johanson-Blizzard Syndrome	Conjugated hyperbilirubinemia, Hypocalcemia, Increased VLDL cholesterol concentration	OMIM:243800
Epilepsy, Familial Adult Myoclonic, 7		OMIM:618075

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Rapgef2

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Rapgef2.

No publications found that use IMPC mice or data for Rapgef2.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Rapgef2^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Rapgef2^em1(IMPC)H	Exon Deletion	Mice
Rapgef2^em2(IMPC)H	Exon Deletion	Mice
Rapgef2^{tm1e(EUCOMM)Wtsi}	Targeted, non-conditional allele	ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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