FGFR3 mutant receptor activation

Pathway network for the FGFR3 mutant receptor activation SuperPath

Sources:
  • Reactome

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

Disorders associated with FGFR3 mutant receptor activation SuperPath

according to GeneCards Suite gene sharing
#DisorderTypeGenesScore
1Bone development diseaseDirect
2Tumoral calcinosis, hyperphosphatemic, familial, 1EnrichmentFGF23, GALNT35.59
3Normosmic congenital hypogonadotropic hypogonadismEnrichmentFGF17, FGF84.46
4Kallmann syndromeEnrichmentFGF17, FGF84.24
5HypochondroplasiaEnrichmentFGFR33.29
6Thanatophoric dysplasia, type iEnrichmentFGFR33.29
7Muenke syndromeEnrichmentFGFR33.29
8Thanatophoric dysplasia, type iiEnrichmentFGFR33.29
9Hypogonadotropic hypogonadism 20 with or without anosmiaEnrichmentFGF173.29
10Camptodactyly, tall stature, and hearing loss syndromeEnrichmentFGFR33.29
11Crouzon syndrome with acanthosis nigricansEnrichmentFGFR33.29
12Multiple synostoses syndrome 3EnrichmentFGF93.29
13Hypogonadotropic hypogonadism 6 with or without anosmiaEnrichmentFGF83.29
14Achondroplasia, severe, with developmental delay and acanthosis nigricansEnrichmentFGFR33.29
15Renal hypodysplasia/aplasia 2EnrichmentFGF203.29
16Lacrimoauriculodentodigital syndrome 2EnrichmentFGFR33.29
17Fgfr3-related chondrodysplasiaEnrichmentFGFR33.29
18Camptodactyly-tall stature-scoliosis-hearing loss syndromeEnrichmentFGFR33.29
19Metacarpal 4-5 fusionEnrichmentFGF163.02
20Familial isolated trichomegalyEnrichmentFGF53.02
21Tumoral calcinosis, hyperphosphatemic, familial, 2EnrichmentFGF233.02
22Short-rib thoracic dysplasia 22 without polydactylyEnrichmentFGF43.02
23Cervical cancerEnrichmentFGFR32.99
24Keratosis, seborrheicEnrichmentFGFR32.99
25Cervix carcinomaEnrichmentFGFR32.99
26Crouzon syndromeEnrichmentFGFR32.81
27Lacrimoauriculodentodigital syndrome 1EnrichmentFGFR32.81
28AchondroplasiaEnrichmentFGFR32.81
29Larsen syndromeEnrichmentFGFR32.81
30HamartomaEnrichmentFGFR32.81
31Testicular germ cell cancerEnrichmentFGFR32.81
32SpermatocytomaEnrichmentFGFR32.81
33Testicular cancerEnrichmentFGFR32.81
34TrichomegalyEnrichmentFGF52.72
35Saethre-chotzen syndromeEnrichmentFGFR32.69
36Multiple synostoses syndromeEnrichmentFGF92.69
37Non-syndromic bicoronal craniosynostosisEnrichmentFGFR32.69
38Hemifacial hyperplasiaEnrichmentFGFR32.59
39HoloprosencephalyEnrichmentFGF82.59
40Hypophosphatemic rickets, autosomal dominantEnrichmentFGF232.54
41Holoprosencephaly 1EnrichmentFGF82.51
42Testicular germ cell tumorEnrichmentFGFR32.51
43Lung squamous cell carcinomaEnrichmentFGFR32.51
4446,xy disorder of sex developmentEnrichmentFGFR32.51
45Nevus, epidermalEnrichmentFGFR32.44
46Renal agenesis, bilateralEnrichmentFGF202.33
47Primary bone dysplasiaEnrichmentFGFR32.29
48OsteochondrodysplasiaEnrichmentFGFR32.25
49Renal hypodysplasia/aplasia 3EnrichmentFGFR32.21
50Hypophosphatemic ricketsEnrichmentFGF232.17
51Septopreoptic holoprosencephalyEnrichmentFGF82.11
52Midline interhemispheric variant of holoprosencephalyEnrichmentFGF82.11
53GliosarcomaEnrichmentFGFR32.08
54Microform holoprosencephalyEnrichmentFGF82.08
55Lobar holoprosencephalyEnrichmentFGF82.08
56Giant cell glioblastomaEnrichmentFGFR32.06
57Alobar holoprosencephalyEnrichmentFGF82.06
58Semilobar holoprosencephalyEnrichmentFGF82.03
59CraniosynostosisEnrichmentFGFR31.99
60HepatoblastomaEnrichmentFGFR31.97
61Bladder cancerEnrichmentFGFR31.83
62Connective tissue diseaseEnrichmentFGFR31.79
63Myeloma, multipleEnrichmentFGFR31.54
64Male infertility with azoospermia or oligozoospermia due to single gene mutationEnrichmentFGF81.54
65Colorectal cancerEnrichmentFGFR31.36
66Congenital nervous system abnormalityEnrichmentFGFR31.27
67Nervous system diseaseEnrichmentFGFR31.27

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