Nephrin family interactions

No Pathway Network information available for Nephrin family interactions

Ordered by rank within the SuperPath, via the multiplicity of each gene in the constituent pathways

Disorders associated with Nephrin family interactions SuperPath

according to GeneCards Suite gene sharing
#DisorderTypeGenesScore
1Genetic steroid-resistant nephrotic syndromeEnrichmentACTN4, CD2AP, MAGI2, NPHS1, NPHS28.62
2Nephrotic syndrome, type 1EnrichmentKIRREL2, NPHS1, NPHS26.45
3Congenital lipomatous overgrowth, vascular malformations, and epidermal neviEnrichmentPIK3CA, PIK3R15.08
4Megalencephaly-capillary malformation-polymicrogyria syndromeEnrichmentPIK3CA, PIK3R24.78
5Nephrotic syndromeEnrichmentKIRREL2, NPHS1, NPHS24.30
6Focal segmental glomerulosclerosisEnrichmentNPHS1, NPHS23.29
7MacrodactylyEnrichmentPIK3CA2.77
8Focal segmental glomerulosclerosis 1EnrichmentACTN42.77
9Cardiomyopathy, dilated, 1aa, with or without left ventricular noncompactionEnrichmentACTN22.77
10Megalencephaly, autosomal dominantEnrichmentPIK3CA2.77
11Developmental and epileptic encephalopathy 5EnrichmentSPTAN12.77
12Cowden syndrome 5EnrichmentPIK3CA2.77
13Cerebral cavernous malformations 4EnrichmentPIK3CA2.77
14Congenital myopathy 8EnrichmentACTN22.77
15Short syndromeEnrichmentPIK3R12.77
16Developmental delay, impaired speech, and behavioral abnormalitiesEnrichmentSPTBN12.77
17Hemifacial myohyperplasiaEnrichmentPIK3CA2.77
18Actn3 deficiencyEnrichmentACTN32.77
19Capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowthEnrichmentPIK3CA2.77
20Focal segmental glomerulosclerosis 3EnrichmentCD2AP2.77
21Immunodeficiency 36 with lymphoproliferationEnrichmentPIK3R12.77
22Bleeding disorder, platelet-type, 15EnrichmentACTN12.77
23Agammaglobulinemia 7, autosomal recessiveEnrichmentPIK3R12.77
24Myopathy, distal, 6, adult-onset, autosomal dominantEnrichmentACTN22.77
25Segmental progressive overgrowth syndrome with fibroadipose hyperplasiaEnrichmentPIK3CA2.77
26Spastic paraplegia 91, autosomal dominant, with or without cerebellar ataxiaEnrichmentSPTAN12.77
27Developmental delay with or without epilepsyEnrichmentSPTAN12.77
28Neuronopathy, distal hereditary motor, autosomal dominant 11EnrichmentSPTAN12.77
29HypospadiasEnrichmentPIK3CA2.77
30Cask-related intellectual disabilityEnrichmentCASK2.77
31Rare venous malformationEnrichmentPIK3CA2.77
32Diaphragmatic eventrationEnrichmentPIK3CA2.77
33Familial nephrotic syndromeEnrichmentNPHS12.77
34Pik3ca-related overgrowth spectrumEnrichmentPIK3CA2.77
35Rare combined vascular malformationEnrichmentPIK3CA2.77
36Cavernous lymphangiomaEnrichmentPIK3CA2.77
37Pik3ca-related overgrowth syndromeEnrichmentPIK3CA2.77
38Hemihyperplasia-multiple lipomatosis syndromeEnrichmentPIK3CA2.77
39Eccrine angiomatous hamartomaEnrichmentPIK3CA2.77
40Macrodactyly of toeEnrichmentPIK3CA2.77
41Intellectual developmental disorder, x-linked, syndromic, raymond typeEnrichmentSPTAN12.47
42Nephrotic syndrome, type 2EnrichmentNPHS22.47
43Fg syndrome 4EnrichmentCASK2.47
44Keratosis, seborrheicEnrichmentPIK3CA2.47
45Intellectual developmental disorder, autosomal dominant 4EnrichmentKIRREL32.47
46Noonan syndrome 8EnrichmentPIK3CA2.47
47Nephrotic syndrome, type 15EnrichmentMAGI22.47
48Rosette-forming glioneuronal tumorEnrichmentPIK3CA2.47
49Syndromic x-linked intellectual disabilityEnrichmentCASK2.47
50Nephrotic syndrome, type 23EnrichmentKIRREL12.47
51Genetic nephrotic syndromeEnrichmentNPHS22.47
52Idiopathic nephrotic syndromeEnrichmentNPHS22.47
53Pompe disease, infantile-onsetEnrichmentPIK3CA2.29
54Intellectual developmental disorder with microcephaly and pontine and cerebellar hypoplasiaEnrichmentCASK2.29
55Immunodeficiency 14a with lymphoproliferation, autosomal dominantEnrichmentPIK3R12.29
56Neurodevelopmental disorder with or without hypotonia, seizures, and cerebellar atrophyEnrichmentSPTBN12.29
57Short-rib thoracic dysplasia 11 with or without polydactylyEnrichmentSPTAN12.29
58Nephrotic syndrome, type 24EnrichmentNPHS22.29
59Intrinsic cardiomyopathyEnrichmentACTN22.29
60Syndromic x-linked intellectual disability najm typeEnrichmentCASK2.29
61Cerebellar diseaseEnrichmentCASK2.29
62Immunodeficiency 14EnrichmentPIK3R12.29
63KeratoacanthomaEnrichmentPIK3CA2.29
64Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1EnrichmentPIK3R22.17
65Cerebrovascular diseaseEnrichmentPIK3CA2.17
66Familial cerebral cavernous malformationsEnrichmentPIK3CA2.17
67Charcot-marie-tooth hereditary neuropathyEnrichmentSPTAN12.17
68Capillary malformations, congenitalEnrichmentPIK3CA2.07
69Anemia, congenital, nonspherocytic hemolytic, 1EnrichmentCASK2.07
70Pervasive developmental disorderEnrichmentSPTBN12.07
71HemimegalencephalyEnrichmentPIK3CA2.07
72Rare pervasive developmental disorderEnrichmentSPTBN12.07
73Colorectal cancerEnrichmentPIK3CA, PIK3R12.03
74Klippel-trenaunay-weber syndromeEnrichmentPIK3CA1.99
75Cowden syndrome 1EnrichmentPIK3CA1.99
76Hemihyperplasia, isolatedEnrichmentPIK3CA1.99
77Breast adenocarcinomaEnrichmentPIK3CA1.99
78Lung squamous cell carcinomaEnrichmentPIK3CA1.99
79Nevus, epidermalEnrichmentPIK3CA1.93
80Capillary malformation-arteriovenous malformation 1EnrichmentPIK3CA1.93
81Gallbladder cancerEnrichmentPIK3CA1.93
82Focal epilepsyEnrichmentSPTAN11.93
83Overgrowth syndromeEnrichmentPIK3R11.93
84Arteriovenous malformationEnrichmentPIK3CA1.82
85Adult hepatocellular carcinomaEnrichmentPIK3CA1.82
86Cowden syndromeEnrichmentPIK3CA1.82
87Myopathy, x-linked, with excessive autophagyEnrichmentPIK3CA1.77
88Autosomal dominant macrothrombocytopeniaEnrichmentACTN11.77
89Autosomal non-syndromic agammaglobulinemiaEnrichmentPIK3R11.77
90Lung non-small cell carcinomaEnrichmentPIK3CA1.73
91MeningiomaEnrichmentPIK3CA1.70
92Lip and oral cavity carcinomaEnrichmentPIK3CA1.70
93Chronic kidney diseaseEnrichmentNPHS21.66
94Nk-cell enteropathyEnrichmentPIK3CB1.66
95Lynch syndromeEnrichmentPIK3CA1.60
96Kidney diseaseEnrichmentNPHS11.60
97Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delayEnrichmentCASK1.57
98Arrhythmogenic right ventricular cardiomyopathyEnrichmentACTN21.57
99Isolated congenital microcephalyEnrichmentCASK1.57
100Neuromuscular diseaseEnrichmentSPTAN11.52
101Early infantile developmental and epileptic encephalopathyEnrichmentCASK1.52
102Endometrial cancerEnrichmentPIK3CA1.46
103Hepatocellular carcinomaEnrichmentPIK3CA1.44
104Jeune thoracic dystrophyEnrichmentSPTAN11.38
105Asphyxiating thoracic dystrophyEnrichmentSPTAN11.33
106Bladder cancerEnrichmentPIK3CA1.32
107Prostate cancerEnrichmentPIK3CA1.32
108Lung cancerEnrichmentPIK3CA1.28
109Short-rib thoracic dysplasia 1 with or without polydactylyEnrichmentSPTAN11.26
110Familial hypertrophic cardiomyopathyEnrichmentACTN21.26
111Left ventricular noncompactionEnrichmentACTN21.24
112DystoniaEnrichmentCASK1.24
113Non-syndromic x-linked intellectual disabilityEnrichmentCASK1.23
114Developmental and epileptic encephalopathyEnrichmentSPTAN11.23
115Benign epilepsy with centrotemporal spikesEnrichmentSPTAN11.17
116Hereditary spastic paraplegiaEnrichmentSPTAN11.16
117Centralopathic epilepsyEnrichmentSPTAN11.15
118Gastric cancerEnrichmentPIK3CA1.15
119Hypertrophic cardiomyopathyEnrichmentACTN21.15
120West syndromeEnrichmentSPTAN11.14
121Hereditary breast carcinomaEnrichmentPIK3CA1.14
122ThrombocytopeniaEnrichmentACTN11.11
123Autosomal dominant non-syndromic intellectual disabilityEnrichmentKIRREL31.09
124HypertelorismEnrichmentPIK3CA1.07
125Spastic ataxiaEnrichmentSPTAN11.06
126Familial isolated dilated cardiomyopathyEnrichmentACTN21.06
127Myeloma, multipleEnrichmentPIK3R21.04
128Breast cancerEnrichmentPIK3CA0.92
129Dilated cardiomyopathyEnrichmentACTN20.90
130Ovarian cancerEnrichmentPIK3CA0.80
131Congenital nervous system abnormalityEnrichmentCASK0.78
132Nervous system diseaseEnrichmentCASK0.78
133MicrocephalyEnrichmentCASK0.72
134Complex neurodevelopmental disorderEnrichmentSPTBN10.72

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