Neural Stem Cells and Lineage-specific Markers

No Pathway Network information available for Neural Stem Cells and Lineage-specific Markers

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

Disorders associated with Neural Stem Cells and Lineage-specific Markers SuperPath

according to GeneCards Suite gene sharing
#DisorderTypeGenesScore
1Septooptic dysplasiaEnrichmentFGFR1, SHH, SOX24.39
2Lacrimoauriculodentodigital syndrome 1EnrichmentFGF10, FGFR34.00
3KeratoacanthomaEnrichmentNOTCH1, NOTCH24.00
4Microform holoprosencephalyEnrichmentFGF8, FGFR1, SHH4.00
5Lobar holoprosencephalyEnrichmentFGF8, FGFR1, SHH4.00
6Semilobar holoprosencephalyEnrichmentFGF8, FGFR1, SHH3.84
7Macs syndromeEnrichmentPAX6, SHH, SOX23.70
8Kallmann syndromeEnrichmentFGF8, FGFR1, SOX103.51
9HoloprosencephalyEnrichmentFGF8, FGFR13.48
10Primary hypereosinophilic syndromeEnrichmentFGFR1, PDGFRA3.48
11Wilms tumor, aniridia, genitourinary anomalies, and impaired intellectual development syndromeEnrichmentBDNF, PAX63.31
12Holoprosencephaly 1EnrichmentFGF8, FGFR13.31
13Anterior segment dysgenesis 5EnrichmentBMP4, PAX63.31
14Connective tissue diseaseEnrichmentFGFR3, NOTCH1, SOX93.08
15Alternating hemiplegia of childhoodEnrichmentSLC1A3, SLC2A13.04
16Congenital central hypoventilation syndromeEnrichmentBDNF, GDNF2.93
17Peters-plus syndromeEnrichmentBMP4, PAX62.84
18Renal hypodysplasia/aplasia 3EnrichmentBMP4, FGFR32.67
19Microphthalmia/coloboma 12EnrichmentPAX2, PAX62.60
20Cleft lip/palateEnrichmentBMP4, PDGFRA2.54
21Coloboma of maculaEnrichmentPAX2, PAX62.48
22Septopreoptic holoprosencephalyEnrichmentFGF8, SHH2.48
23Midline interhemispheric variant of holoprosencephalyEnrichmentFGF8, SHH2.48
24GliosarcomaEnrichmentFGFR1, FGFR32.42
25Giant cell glioblastomaEnrichmentFGFR1, FGFR32.37
26Alobar holoprosencephalyEnrichmentFGF8, SHH2.37
27Normosmic congenital hypogonadotropic hypogonadismEnrichmentFGF8, FGFR12.32
28Holoprosencephaly 3EnrichmentSHH2.23
29HypochondroplasiaEnrichmentFGFR32.23
30Osteoglophonic dysplasiaEnrichmentFGFR12.23
31Apnea, central sleepEnrichmentCHAT2.23
32Thanatophoric dysplasia, type iEnrichmentFGFR32.23
33Trigonocephaly 1EnrichmentFGFR12.23
34Muenke syndromeEnrichmentFGFR32.23
35Hypomagnesemia 4, renalEnrichmentEGF2.23
36Hypereosinophilic syndrome, idiopathicEnrichmentPDGFRA2.23
37Stomatin-deficient cryohydrocytosis with neurologic defectsEnrichmentSLC2A12.23
38Stargardt disease 4EnrichmentPROM12.23
39Hajdu-cheney syndromeEnrichmentNOTCH22.23
40Alagille syndrome 2EnrichmentNOTCH22.23
41Episodic ataxia, type 6EnrichmentSLC1A32.23
42Maturity-onset diabetes of the young, type 6EnrichmentNEUROD12.23
43Basal ganglia calcification, idiopathic, 5EnrichmentPDGFB2.23
44Microphthalmia/coloboma 5EnrichmentSHH2.23
45Uric acid concentration, serum, quantitative trait locus 1EnrichmentABCG22.23
46Thanatophoric dysplasia, type iiEnrichmentFGFR32.23
47Charcot-marie-tooth disease, demyelinating, type 1fEnrichmentNEFL2.23
48Macular dystrophy, retinal, 2EnrichmentPROM12.23
49Gist-plus syndromeEnrichmentPDGFRA2.23
50Camptodactyly, tall stature, and hearing loss syndromeEnrichmentFGFR32.23
51Whim syndrome 1EnrichmentCXCR42.23
52Aplasia of lacrimal and salivary glandsEnrichmentFGF102.23
53Endove syndrome, limb-brain typeEnrichmentEN12.23
5446,xy sex reversal 10EnrichmentSOX92.23
55Charcot-marie-tooth disease, dominant intermediate gEnrichmentNEFL2.23
5646,xx sex reversal 2EnrichmentSOX92.23
57Developmental and epileptic encephalopathy 89EnrichmentGAD12.23
58Microphthalmia, syndromic 6EnrichmentBMP42.23
59Myeloid and lymphoid neoplasms associated with pdgfra rearrangementEnrichmentPDGFRA2.23
60Orofacial cleft 11EnrichmentBMP42.23
61Lacrimoauriculodentodigital syndrome 3EnrichmentFGF102.23
62Microvascular complications of diabetes 1EnrichmentVEGFA2.23
63Crouzon syndrome with acanthosis nigricansEnrichmentFGFR32.23
64Charcot-marie-tooth disease type 1fEnrichmentNEFL2.23
65Glaucoma 1, open angle, oEnrichmentNTF42.23
66Epilepsy, idiopathic generalized 12EnrichmentSLC2A12.23
67Narcolepsy 7EnrichmentMOG2.23
68Neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movementsEnrichmentVAMP22.23
69Retinitis pigmentosa 41EnrichmentPROM12.23
70Hirschsprung disease 3EnrichmentGDNF2.23
71Hypogonadotropic hypogonadism 6 with or without anosmiaEnrichmentFGF82.23
72Achondroplasia, severe, with developmental delay and acanthosis nigricansEnrichmentFGFR32.23
73Blood group, junior systemEnrichmentABCG22.23
74Smarca4-deficient sarcoma of thoraxEnrichmentSMARCA42.23
75Ovarian small cell carcinomaEnrichmentSMARCA42.23
76Hartsfield syndromeEnrichmentFGFR12.23
7720p12.3 microdeletion syndromeEnrichmentBMP22.23
78Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1EnrichmentBMP22.23
79Intellectual developmental disorder with language impairment and early-onset dopa-responsive dystonia-parkinsonismEnrichmentNR4A22.23
80Lacrimoauriculodentodigital syndrome 2EnrichmentFGFR32.23
81Short-rib thoracic dysplasia 22 without polydactylyEnrichmentFGF42.23
82Aspiration pneumoniaEnrichmentCHAT2.23
83Charcot-marie-tooth disease type 2b5EnrichmentNEFL2.23
84Fgfr3-related chondrodysplasiaEnrichmentFGFR32.23
85Camptodactyly-tall stature-scoliosis-hearing loss syndromeEnrichmentFGFR32.23
86Epilepsy with myoclonic absencesEnrichmentSLC2A12.23
87Pax2-related disorderEnrichmentPAX22.23
88Resistance to thyroid hormone due to a mutation in thyroid hormone receptor betaEnrichmentTHRB2.23
89Premature agingEnrichmentVIM2.23
90Hartsfield-bixler-demyer syndromeEnrichmentFGFR12.23
91Egf-related primary hypomagnesemia with intellectual disabilityEnrichmentEGF2.23
92Generalized resistance to thyroid hormoneEnrichmentTHRB2.23
93Interstitial lung disease specific to childhoodEnrichmentFGF102.23
94Microcephaly-polymicrogyria-corpus callosum agenesis syndromeEnrichmentEOMES2.23
95Hereditary cryohydrocytosis with reduced stomatinEnrichmentSLC2A12.23
96Autosomal dominant preaxial polydactyly-upperback hypertrichosis syndromeEnrichmentSHH2.23
97MicrophthalmiaEnrichmentPAX6, SOX22.14
98StrabismusEnrichmentGALC, SLC2A11.97
99Keratitis, hereditaryEnrichmentPAX61.94
100Thyroid hormone resistance, selective pituitaryEnrichmentTHRB1.94
101Papillorenal syndromeEnrichmentPAX21.94
102Foveal hypoplasia 1EnrichmentPAX61.94
103Campomelic dysplasiaEnrichmentSOX91.94
104Alexander diseaseEnrichmentGFAP1.94
105Thyroid hormone resistance, generalized, autosomal dominantEnrichmentTHRB1.94
106Dystonia 9EnrichmentSLC2A11.94
107Pulmonary hypoplasia, primaryEnrichmentFGF101.94
108Thyroid hormone resistance, generalized, autosomal recessiveEnrichmentTHRB1.94
109Dermatofibrosarcoma protuberansEnrichmentPDGFB1.94
110Cervical cancerEnrichmentFGFR31.94
111Waardenburg syndrome, type 4cEnrichmentSOX101.94
112Rhabdoid tumor predisposition syndrome 2EnrichmentSMARCA41.94
113Glut1 deficiency syndrome 1EnrichmentSLC2A11.94
114Keratosis, seborrheicEnrichmentFGFR31.94
115Pfeiffer syndromeEnrichmentFGFR11.94
116Segawa syndrome, autosomal recessiveEnrichmentTH1.94
117Jackson-weiss syndromeEnrichmentFGFR11.94
118Encephalocraniocutaneous lipomatosisEnrichmentFGFR11.94
119Solitary median maxillary central incisorEnrichmentSHH1.94
120Optic nerve hypoplasia, bilateralEnrichmentPAX61.94
121Adams-oliver syndrome 5EnrichmentNOTCH11.94
122Spastic paraplegia, intellectual disability, nystagmus, and obesityEnrichmentGFAP1.94
123Parkinsonism-dystonia 2, infantile-onsetEnrichmentSLC18A21.94
124Thyroid hormone resistance syndromeEnrichmentTHRB1.94
125Glucose transporter type 1 deficiency syndromeEnrichmentSLC2A11.94
126Bladder exstrophyEnrichmentISL11.94
127Rhabdoid tumor predisposition syndromeEnrichmentSMARCA41.94
128Focal segmental glomerulosclerosis 7EnrichmentPAX21.94
129Rosette-forming glioneuronal tumorEnrichmentFGFR11.94
130Cataract 30EnrichmentVIM1.94
131Vulto-van silfhout-de vries syndromeEnrichmentDLG41.94
132Peripheral demyelinating neuropathy, central dysmyelination, waardenburg syndrome, and hirschsprung diseaseEnrichmentSOX101.94
133Otosclerosis 12EnrichmentSMARCA41.94
134Coffin-siris syndrome 4EnrichmentSMARCA41.94
135Cervix carcinomaEnrichmentFGFR31.94
136Craniosynostosis 7EnrichmentBMP21.94
137Myasthenic syndrome, congenital, 21, presynapticEnrichmentCHAT1.94
138Status epilepticusEnrichmentGALC1.94
139Interfrontal craniofaciosynostosisEnrichmentFGFR11.94
140Chronic eosinophilic leukemiaEnrichmentPDGFRA1.94
141Growth delay due to insulin-like growth factor type 1 deficiencyEnrichmentIGF11.94
142Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to 2q24 microdeletionEnrichmentNR4A21.94
143B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormalityEnrichmentPDGFRA1.94
144Renal hypoplasia, bilateralEnrichmentPAX21.94
145Isolated radial hemimeliaEnrichmentSHH1.94
146Campomelic dysplasia and related disordersEnrichmentSOX91.94
147Hirschsprung disease 1EnrichmentGDNF, SOX101.91
148Peripheral nervous system diseaseEnrichmentNEFL, NGF1.83
149NeuropathyEnrichmentNEFL, NGF1.83
150Crouzon syndromeEnrichmentFGFR31.76
151AchondroplasiaEnrichmentFGFR31.76
152Dystonia, dopa-responsiveEnrichmentTH1.76
153Hypogonadotropic hypogonadism 2 with or without anosmiaEnrichmentFGFR11.76
154Larsen syndromeEnrichmentFGFR31.76
155Waardenburg syndrome, type 2aEnrichmentSOX101.76
156Gillespie syndromeEnrichmentPAX61.76
157Myasthenic syndrome, congenital, 6, presynapticEnrichmentCHAT1.76
158Syndactyly, type ivEnrichmentSHH1.76
159Intellectual developmental disorder, x-linked 96EnrichmentSYP1.76
160Weaver syndromeEnrichmentEZH21.76
16146,xx sex reversal 1EnrichmentSOX91.76
162Heart defects, congenital, and other congenital anomaliesEnrichmentDLG41.76
163Transposition of the great arteries, dextro-loopedEnrichmentBMP21.76
164Glut1 deficiency syndrome 2EnrichmentSLC2A11.76
165Cone-rod dystrophy 12EnrichmentPROM11.76
166Chromosome 8p11 myeloproliferative syndromeEnrichmentFGFR11.76
167Bronchopulmonary dysplasiaEnrichmentCHAT1.76
168Intellectual developmental disorder, autosomal dominant 62EnrichmentDLG41.76
169Chromosome 17q23.1-q23.2 deletion syndromeEnrichmentSLC2A11.76
170Neurodevelopmental disorder with hypotonia and impaired expressive language and with or without seizuresEnrichmentDLG41.76
171HamartomaEnrichmentFGFR31.76
172Testicular germ cell cancerEnrichmentFGFR31.76
173Hypoplastic or aplastic tibia with polydactylyEnrichmentSHH1.76
174Dlg4-related synaptopathyEnrichmentDLG41.76
175SpermatocytomaEnrichmentFGFR31.76
176Gtp cyclohydrolase 1-deficient dopa-responsive dystoniaEnrichmentNR4A21.76
177Testicular cancerEnrichmentFGFR31.76
178EpilepsyEnrichmentNR4A2, SLC2A11.65
179Currarino syndromeEnrichmentMNX11.64
180Aniridia 1EnrichmentPAX61.64
181Brachydactyly, type a2EnrichmentBMP21.64
182Polydactyly, preaxial iiEnrichmentSHH1.64
183Acyl-coa dehydrogenase, very long-chain, deficiency ofEnrichmentDLG41.64
184Krabbe diseaseEnrichmentGALC1.64
185Microphthalmia, syndromic 3EnrichmentSOX21.64
186SchizencephalyEnrichmentSHH1.64
187Saethre-chotzen syndromeEnrichmentFGFR31.64
188Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalitiesEnrichmentGAD11.64
189Spastic quadriplegic cerebral palsyEnrichmentGAD11.64
190Eyelid colobomaEnrichmentPAX61.64
191Non-syndromic bicoronal craniosynostosisEnrichmentFGFR31.64
192Haddad syndromeEnrichmentASCL11.64
193Lens colobomaEnrichmentPAX61.64
194Hemifacial hyperplasiaEnrichmentFGFR31.54
195Hypogonadotropic hypogonadism 1 with or without anosmiaEnrichmentSOX101.54
196Fabry diseaseEnrichmentGALC1.54
197Insulin-like growth factor iEnrichmentIGF11.54
198Charcot-marie-tooth disease, axonal, type 2eEnrichmentNEFL1.54
199Ventricular septal defect 1EnrichmentBMP21.54
200AmblyopiaEnrichmentGALC1.54
201Histiocytoid hemangiomaEnrichmentVIM1.54
202Nonsyndromic 46,xx testicular disorders/differences of sex developmentEnrichmentSOX91.54
203AniridiaEnrichmentPAX61.54
204Coloboma of choroid and retinaEnrichmentPAX61.54
205Atrial septal defect 1EnrichmentBMP21.46
206Coloboma of optic nerveEnrichmentPAX61.46
207Pierre robin syndromeEnrichmentSOX91.46
208Metachromatic leukodystrophyEnrichmentGFAP1.46
209Testicular germ cell tumorEnrichmentFGFR31.46
210Waardenburg syndrome, type 4aEnrichmentSOX101.46
211Congenital anomalies of kidney and urinary tract 1EnrichmentPAX21.46
212Renal hypoplasiaEnrichmentPAX21.46
213Lung squamous cell carcinomaEnrichmentFGFR31.46
214Waardenburg syndromeEnrichmentSOX101.46
21546,xy disorder of sex developmentEnrichmentFGFR31.46
216Nevus, epidermalEnrichmentFGFR31.40
217Waardenburg syndrome, type 1EnrichmentSOX101.40
218Gastrointestinal stromal tumorEnrichmentPDGFRA1.40
219Waardenburg syndrome, type 2eEnrichmentSOX101.40
220Neuropathy, hereditary sensory and autonomic, type vEnrichmentNGF1.40
221Adams-oliver syndromeEnrichmentNOTCH11.40
222Pilomyxoid astrocytomaEnrichmentFGFR11.40
223Paroxysmal dystoniaEnrichmentSLC2A11.40
224Inherited cancer-predisposing syndromeEnrichmentEZH2, PDGFRA, SMARCA41.38
225Gastroesophageal refluxEnrichmentCHAT1.34
226Narcolepsy 1EnrichmentMOG1.34
227Basal ganglia calcification, idiopathic, 1EnrichmentPDGFB1.34
228Hemochromatosis, type 1EnrichmentBMP21.34
229Leber congenital amaurosis 1EnrichmentPROM11.34
230NeuroblastomaEnrichmentSMARCA41.34
231Hypoplastic left heart syndromeEnrichmentNOTCH11.34
232Orofacial cleft 1EnrichmentFGF101.29
233Myoclonic-atonic epilepsyEnrichmentSLC2A11.29
234Adult hepatocellular carcinomaEnrichmentEGF1.29
235Hypogonadotropic hypogonadismEnrichmentFGFR11.29
236Cystic kidney diseaseEnrichmentPAX21.29
237Ventricular septal defectEnrichmentSMARCA41.29
238Cat eye syndromeEnrichmentPAX61.25
239Cataract 30, multiple typesEnrichmentVIM1.25
240Myasthenic syndrome, congenital, 4c, associated with acetylcholine receptor deficiencyEnrichmentCHAT1.25
241Stickler syndromeEnrichmentBMP41.25
242Primary bone dysplasiaEnrichmentFGFR31.25
243Meningioma, familialEnrichmentPDGFB1.21
244NanophthalmosEnrichmentSOX21.21
245Atrial heart septal defectEnrichmentSMARCA41.21
24646,xy complete gonadal dysgenesisEnrichmentSOX91.21
247OsteochondrodysplasiaEnrichmentFGFR31.21
248Interatrial communicationEnrichmentSMARCA41.21
249Presynaptic congenital myasthenic syndromesEnrichmentCHAT1.21
250MeningiomaEnrichmentPDGFB1.17
251Lactic acidosisEnrichmentCHAT1.17
252Aortic valve disease 1EnrichmentNOTCH11.14
253Hypercholesterolemia, familial, 1EnrichmentSMARCA41.14
254Hypogonadotropic hypogonadism 7 with or without anosmiaEnrichmentFGFR11.10
255Aortic aneurysm, familial thoracic 1EnrichmentNOTCH11.10
256Lung cancer susceptibility 3EnrichmentFGF101.10
257Congenital myasthenic syndromeEnrichmentCHAT1.10
25846,xy partial gonadal dysgenesisEnrichmentSOX91.10
259Isolated macular dystrophyEnrichmentPROM11.10
260Coffin-siris syndrome 1EnrichmentSMARCA41.08
261Anterior segment dysgenesisEnrichmentPAX61.08
262Familial hypercholesterolemiaEnrichmentSMARCA41.08
263Colorectal cancerEnrichmentFGFR3, SOX91.04
264Cleft palate, isolatedEnrichmentSMARCA41.02
265Beckwith-wiedemann syndromeEnrichmentGALC1.00
266Neuropathy, hereditary motor and sensory, okinawa typeEnrichmentNEFL0.98
267Parkinson's diseaseEnrichmentNR4A20.98
268Maturity-onset diabetes of the youngEnrichmentNEUROD10.96
269LeukodystrophyEnrichmentGALC0.96
270CraniosynostosisEnrichmentFGFR30.96
271Focal segmental glomerulosclerosisEnrichmentPAX20.96
272HepatoblastomaEnrichmentFGFR30.94
273Tooth agenesisEnrichmentFGFR10.92
274Congenital nervous system abnormalityEnrichmentFGFR3, GALC0.90
275Nervous system diseaseEnrichmentFGFR3, GALC0.90
276Parkinson disease, late-onsetEnrichmentNR4A20.88
277ScoliosisEnrichmentGFAP0.88
278Developmental and epileptic encephalopathy 1EnrichmentSLC2A10.87
279Tetralogy of fallotEnrichmentNOTCH10.85
280Auditory neuropathyEnrichmentNEFL0.85
281Bladder cancerEnrichmentFGFR30.81
282Stargardt disease 1EnrichmentPROM10.79
283Complex neurodevelopmental disorderEnrichmentDLG4, NR4A20.79
284Usher syndromeEnrichmentPROM10.76
285CakutEnrichmentPAX20.74
286Genetic steroid-resistant nephrotic syndromeEnrichmentPAX20.74
287DystoniaEnrichmentTH0.73
288Non-syndromic x-linked intellectual disabilityEnrichmentSYP0.72
289Cerebral palsyEnrichmentSMARCA40.69
290Charcot-marie-tooth diseaseEnrichmentNEFL0.67
291Benign epilepsy with centrotemporal spikesEnrichmentSLC2A10.67
292Type 2 diabetes mellitusEnrichmentNEUROD10.66
293Centralopathic epilepsyEnrichmentSLC2A10.65
294Nephrotic syndromeEnrichmentPAX20.65
295West syndromeEnrichmentSLC2A10.64
296Familial thoracic aortic aneurysm and aortic dissectionEnrichmentNOTCH10.64
297Hereditary retinal dystrophyEnrichmentNEUROD1, PAX2, PROM10.62
298Fundus dystrophyEnrichmentNEUROD1, PAX2, PROM10.62
299Sensorineural hearing lossEnrichmentNEFL0.61
300Body mass index quantitative trait locus 11EnrichmentBDNF0.60
301HypertelorismEnrichmentPAX60.58
302Spastic ataxiaEnrichmentGALC0.57
303Myeloma, multipleEnrichmentFGFR30.55
304Male infertility with azoospermia or oligozoospermia due to single gene mutationEnrichmentFGF80.55
305Primary ovarian insufficiencyEnrichmentNOTCH20.53
306Cone-rod dystrophy 2EnrichmentPROM10.48
307AutismEnrichmentSHH0.46
308Rare genetic deafnessEnrichmentSOX100.43
309Leber plus diseaseEnrichmentPROM10.37
310Ovarian cancerEnrichmentPDGFRA0.35
311Autism spectrum disorderEnrichmentNR4A20.33
312MicrocephalyEnrichmentSLC2A10.29
313Retinitis pigmentosaEnrichmentPROM10.15

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