×
Entrez Id:
200373
Gene Symbol:
CFAP221
CFAP221
Polynesian Bronchiectasis
0.300
GermlineCausalMutation
ORPHANET
Identification of genetic variants in CFAP221 as a cause of primary ciliary dyskinesia.
31636325
2020
×
Entrez Id:
79925
Gene Symbol:
SPEF2
SPEF2
Polynesian Bronchiectasis
0.300
GermlineCausalMutation
ORPHANET
SPEF2 - and HYDIN -mutant Cilia Lack the Central Pair Associated Protein SPEF2 Aiding PCD Diagnostics.
31545650
2020
×
Entrez Id:
200373
Gene Symbol:
CFAP221
CFAP221
Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus
0.300
GermlineCausalMutation
ORPHANET
Identification of genetic variants in CFAP221 as a cause of primary ciliary dyskinesia.
31636325
2020
×
Entrez Id:
79925
Gene Symbol:
SPEF2
SPEF2
Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus
0.300
GermlineCausalMutation
ORPHANET
SPEF2 - and HYDIN -mutant Cilia Lack the Central Pair Associated Protein SPEF2 Aiding PCD Diagnostics.
31545650
2020
×
Entrez Id:
284119
Gene Symbol:
CAVIN1
CAVIN1
Lipoatrophic Diabetes Mellitus
0.300
GermlineCausalMutation
ORPHANET
Bone Density in Patients With Berardinelli-Seip Congenital Lipodystrophy Is Higher in Trabecular Sites and in Type 2 Patients.
27894728
2019
×
Entrez Id:
9321
Gene Symbol:
TRIP11
TRIP11
Hypertension, Goldblatt
0.300
GermlineCausalMutation
ORPHANET
Hypomorphic mutations of TRIP11 cause odontochondrodysplasia.
30728324
2019
×
Entrez Id:
80217
Gene Symbol:
CFAP43
CFAP43
Hydrocephalus, Normal Pressure
0.300
GermlineCausalMutation
ORPHANET
Nonsense mutation in CFAP43 causes normal-pressure hydrocephalus with ciliary abnormalities.
31004071
2019
×
Entrez Id:
246176
Gene Symbol:
GAS2L2
GAS2L2
Kartagener Syndrome
0.300
GermlineCausalMutation
ORPHANET
A biallelic mutation links MYORG to autosomal-recessive primary familial brain calcification.
30649222
2019
×
Entrez Id:
6601
Gene Symbol:
SMARCC2
SMARCC2
Coffin-Siris syndrome
0.300
GermlineCausalMutation
ORPHANET
Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental Delay.
30580808
2019
×
Entrez Id:
6659
Gene Symbol:
SOX4
SOX4
Coffin-Siris syndrome
0.300
GermlineCausalMutation
ORPHANET
Extremely Low Prevalence of Takotsubo Cardiomyopathy and Transient Cardiac Dysfunction in Stroke Patients With T-wave Abnormalities.
30661722
2019
×
Entrez Id:
10486
Gene Symbol:
CAP2
CAP2
Familial dilated cardiomyopathy
0.300
GermlineCausalMutation
ORPHANET
CAP2 mutation leads to impaired actin dynamics and associates with supraventricular tachycardia and dilated cardiomyopathy.
30518548
2019
×
Entrez Id:
57462
Gene Symbol:
MYORG
MYORG
Fahr's syndrome (disorder)
0.300
GermlineCausalMutation
ORPHANET
A biallelic mutation links MYORG to autosomal-recessive primary familial brain calcification.
30649222
2019
×
Entrez Id:
1173
Gene Symbol:
AP2M1
AP2M1
Myoclonic Astatic Epilepsy
0.300
GermlineCausalMutation
ORPHANET
A Recurrent Missense Variant in AP2M1 Impairs Clathrin-Mediated Endocytosis and Causes Developmental and Epileptic Encephalopathy.
31104773
2019
×
Entrez Id:
4761
Gene Symbol:
NEUROD2
NEUROD2
Early infantile epileptic encephalopathy with suppression bursts
0.300
GermlineCausalMutation
ORPHANET
De novo pathogenic variants in neuronal differentiation factor 2 (NEUROD2) cause a form of early infantile epileptic encephalopathy.
30323019
2019
×
Entrez Id:
84957
Gene Symbol:
RELT
RELT
Amelogenesis imperfecta local hypoplastic form
0.300
GermlineCausalMutation
ORPHANET
Mutations in RELT cause autosomal recessive amelogenesis imperfecta.
30506946
2019
×
Entrez Id:
171568
Gene Symbol:
POLR3H
POLR3H
Pure Gonadal Dysgenesis, 46, XX
0.300
GermlineCausalMutation
ORPHANET
Exome Sequencing Reveals the POLR3H Gene as a Novel Cause of Primary Ovarian Insufficiency.
30830215
2019
×
Entrez Id:
55229
Gene Symbol:
PANK4
PANK4
Posterior subcapsular cataract
0.300
GermlineCausalMutation
ORPHANET
A novel mutation of PANK4 causes autosomal dominant congenital posterior cataract.
30585370
2019
×
Entrez Id:
171568
Gene Symbol:
POLR3H
POLR3H
Gonadal Dysgenesis, 46,XX
0.300
GermlineCausalMutation
ORPHANET
Exome Sequencing Reveals the POLR3H Gene as a Novel Cause of Primary Ovarian Insufficiency.
30830215
2019
×
Entrez Id:
5727
Gene Symbol:
PTCH1
PTCH1
Schilbach-Rott Syndrome
0.300
ChromosomalRearrangement
ORPHANET
Schilbach-Rott syndrome associated with 9q22.32q22.33 duplication, involving the PTCH1 gene.
30936464
2019
×
Entrez Id:
9361
Gene Symbol:
LONP1
LONP1
Pyruvate Dehydrogenase E1 Alpha Deficiency
0.300
GermlineCausalMutation
ORPHANET
Bi-allelic mutations of LONP1 encoding the mitochondrial LonP1 protease cause pyruvate dehydrogenase deficiency and profound neurodegeneration with progressive cerebellar atrophy.
30304514
2019
×
Entrez Id:
56999
Gene Symbol:
ADAMTS9
ADAMTS9
Nephronophthisis, familial juvenile
0.300
GermlineCausalMutation
ORPHANET
Mutations of ADAMTS9 Cause Nephronophthisis-Related Ciliopathy.
30609407
2019
MACROH2A1
Synostosis, Carpal, with Dysplastic Elbow Joints and Brachydactyly
0.300
GermlineCausalMutation
ORPHANET
H2AFY promoter deletion causes PITX1 endoactivation and Liebenberg syndrome.
30711920
2019
×
Entrez Id:
54885
Gene Symbol:
TBC1D8B
TBC1D8B
NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE
0.300
GermlineCausalMutation
ORPHANET
TBC1D8B Loss-of-Function Mutations Lead to X-Linked Nephrotic Syndrome via Defective Trafficking Pathways.
30661770
2019
×
Entrez Id:
64065
Gene Symbol:
PERP
PERP
Olmsted syndrome
0.300
GermlineCausalMutation
ORPHANET
Mutations in PERP Cause Dominant and Recessive Keratoderma.
30321533
2019
FAM149B1
OROFACIODIGITAL SYNDROME VI
0.300
GermlineCausalMutation
ORPHANET
Bi-allelic Mutations in FAM149B1 Cause Abnormal Primary Cilium and a Range of Ciliopathy Phenotypes in Humans.
30905400
2019