Markers of kidney cell lineage

No Pathway Network information available for Markers of kidney cell lineage

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

Disorders associated with Markers of kidney cell lineage SuperPath

according to GeneCards Suite gene sharing
#DisorderTypeGenesScore
1Focal segmental glomerulosclerosisEnrichmentEYA1, NPHS1, NPHS2, PAX2, WT17.71
2CakutEnrichmentFAT4, HNF1B, PAX2, SALL1, TBX186.48
3Ovarian cancerEnrichmentAXIN2, CTNNB1, HNF1A, HNF1B, KIT, WT15.32
4Genetic steroid-resistant nephrotic syndromeEnrichmentNPHS1, NPHS2, PAX2, WT14.87
5Congenital anomalies of kidney and urinary tract 2EnrichmentHNF1B, TBX184.73
6Branchiootic syndromeEnrichmentEYA1, SIX14.73
7Branchiootic syndrome 1EnrichmentEYA1, SIX14.73
8Hyperinsulinism due to hnf1a deficiencyEnrichmentHNF1A, HNF4A4.73
9Renal hypoplasia, bilateralEnrichmentPAX2, PBX14.73
10Mullerian duct aplasia, unilateral renal agenesis, and cervicothoracic somite anomaliesEnrichmentHNF1B, WNT44.25
11Chromosome 17q12 deletion syndromeEnrichmentHNF1B, LHX14.25
12Chromophobe renal cell carcinomaEnrichmentHNF1A, HNF1B4.25
13Maturity-onset diabetes of the youngEnrichmentHNF1A, HNF1B, HNF4A4.07
14HepatoblastomaEnrichmentCTNNB1, JAG1, REN4.01
15Maturity-onset diabetes of the young, type 3EnrichmentHNF1A, HNF4A3.95
16Tetralogy of fallotEnrichmentJAG1, KDR, NOTCH13.72
17Branchiootorenal syndrome 1EnrichmentEYA1, SIX13.56
18Autosomal dominant secondary polycythemiaEnrichmentEGLN1, EPO3.56
19Branchiootorenal syndromeEnrichmentEYA1, SIX13.41
20Nephrotic syndrome, type 1EnrichmentNPHS1, NPHS23.18
21Type 2 diabetes mellitusEnrichmentHNF1A, HNF1B, HNF4A3.10
22Nephrotic syndromeEnrichmentNPHS1, NPHS2, PAX23.07
23Microphthalmia/coloboma 12EnrichmentPAX2, RARB2.85
24Coloboma of maculaEnrichmentPAX2, RARB2.73
25Renal cell carcinoma, nonpapillaryEnrichmentHNF1A, HNF1B2.73
26Kidney diseaseEnrichmentNPHS1, WT12.73
27Polycystic liver diseaseEnrichmentCTNNB1, HNF4A2.62
28Autosomal dominant polycystic liver diseaseEnrichmentCTNNB1, HNF4A2.62
29MicrophthalmiaEnrichmentRARB, VSX22.39
30Hepatic adenomas, familialEnrichmentHNF1A2.36
31Mullerian aplasia and hyperandrogenismEnrichmentWNT42.36
32Calcification of joints and arteriesEnrichmentNT5E2.36
33Premature aging syndrome, penttinen typeEnrichmentPDGFRB2.36
34Oligodontia-colorectal cancer syndromeEnrichmentAXIN22.36
3546,xx sex reversal with dysgenesis of kidneys, adrenals, and lungsEnrichmentWNT42.36
36Mastocytosis, cutaneousEnrichmentKIT2.36
37Scalp-ear-nipple syndromeEnrichmentKCTD12.36
38Townes-brocks syndrome 1EnrichmentSALL12.36
39Otofaciocervical syndrome 1EnrichmentEYA12.36
40Prostate cancer, hereditary, 11EnrichmentHNF1B2.36
41Myofibromatosis, infantile, 1EnrichmentPDGFRB2.36
42Fanconi renotubular syndrome 4 with maturity-onset diabetes of the youngEnrichmentHNF4A2.36
43Deafness, autosomal dominant 56EnrichmentTNC2.36
44Microvascular complications of diabetes 2EnrichmentEPO2.36
45Scapuloperoneal syndrome, neurogenic, kaeser typeEnrichmentDES2.36
46Charcot-marie-tooth disease, axonal, type 2hhEnrichmentJAG12.36
47Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delayEnrichmentPBX12.36
48Microphthalmia, syndromic 6EnrichmentBMP42.36
49Mirror movements 4EnrichmentNTN12.36
50Hemoglobin, high altitude adaptationEnrichmentEGLN12.36
51Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and 46,xx sex reversalEnrichmentRSPO12.36
52Orofacial cleft 11EnrichmentBMP42.36
53Deafness, autosomal dominant 23EnrichmentSIX12.36
54Microphthalmia, isolated 2EnrichmentVSX22.36
55Microphthalmia/coloboma 3EnrichmentVSX22.36
56Diaphragmatic hernia 4, with cardiovascular defectsEnrichmentALDH1A22.36
57Meacham syndromeEnrichmentWT12.36
58Basal ganglia calcification, idiopathic, 4EnrichmentPDGFRB2.36
59Microphthalmia, syndromic 12EnrichmentRARB2.36
60Van maldergem syndrome 2EnrichmentFAT42.36
61Myeloid and lymphoid neoplasms associated with pdgfrb rearrangementEnrichmentPDGFRB2.36
62Hennekam lymphangiectasia-lymphedema syndrome 2EnrichmentFAT42.36
63Hirschsprung disease 3EnrichmentGDNF2.36
64Type 1 diabetes mellitus 20EnrichmentHNF1A2.36
65Hypogonadotropic hypogonadism 6 with or without anosmiaEnrichmentFGF82.36
66Kosaki overgrowth syndromeEnrichmentPDGFRB2.36
67Erythrocytosis, familial, 5EnrichmentEPO2.36
68Deafness, congenital heart defects, and posterior embryotoxonEnrichmentJAG12.36
69Ocular pterygium-digital keloid dysplasia syndromeEnrichmentPDGFRB2.36
70Van maldergem syndromeEnrichmentFAT42.36
71Chronic mast cell leukemiaEnrichmentKIT2.36
72Tufted angioma of skinEnrichmentKDR2.36
73Adenoid ameloblastomaEnrichmentCTNNB12.36
74Palmoplantar keratoderma-xx sex reversal-predisposition to squamous cell carcinoma syndromeEnrichmentRSPO12.36
75Hyperinsulinism due to hnf4a deficiencyEnrichmentHNF4A2.36
76Isolated bone marrow mastocytosisEnrichmentKIT2.36
77Smoldering systemic mastocytosisEnrichmentKIT2.36
78Familial nephrotic syndromeEnrichmentNPHS12.36
79MastocytosisEnrichmentKIT2.36
80Cutaneous mastocytomaEnrichmentKIT2.36
81Pax2-related disorderEnrichmentPAX22.36
82Typical urticaria pigmentosaEnrichmentKIT2.36
83Medullary sponge kidneyEnrichmentHNF1B2.36
84Autosomal dominant nonsyndromic hearing loss 23EnrichmentSIX12.36
85Nodular urticaria pigmentosaEnrichmentKIT2.36
86Renal dysplasia, bilateralEnrichmentHNF1B2.36
87Unilateral multicystic dysplastic kidneyEnrichmentHNF1B2.36
88Pseudoxanthomatous diffuse cutaneous mastocytosisEnrichmentKIT2.36
89Renal dysplasia, unilateralEnrichmentHNF1B2.36
90Telangiectasia macularis eruptiva perstansEnrichmentKIT2.36
91Acute mast cell leukemiaEnrichmentKIT2.36
92Six2-related frontonasal dysplasiaEnrichmentSIX22.36
93Plaque-form urticaria pigmentosaEnrichmentKIT2.36
94Bullous diffuse cutaneous mastocytosisEnrichmentKIT2.36
95Microcystic stromal tumorEnrichmentCTNNB12.36
96Testis seminomaEnrichmentKIT2.36
97Hirschsprung disease 1EnrichmentAXIN2, GDNF2.15
98Connective tissue diseaseEnrichmentACTA2, NOTCH12.07
99Tubulointerstitial kidney disease, autosomal dominant 1EnrichmentHNF1B2.06
100Papillorenal syndromeEnrichmentPAX22.06
101Renal cysts and diabetes syndromeEnrichmentHNF1B2.06
102Deafness, unilateralEnrichmentSIX12.06
103Maturity-onset diabetes of the young, type 1EnrichmentHNF4A2.06
104Myeloproliferative disorder, chronic, with eosinophiliaEnrichmentPDGFRB2.06
105Camurati-engelmann disease 1EnrichmentTGFB12.06
106Denys-drash syndromeEnrichmentWT12.06
107Osteopathia striata with cranial sclerosisEnrichmentCTNNB12.06
108Nephrotic syndrome, type 2EnrichmentNPHS22.06
109Van maldergem syndrome 1EnrichmentFAT42.06
110Nephrotic syndrome, type 4EnrichmentWT12.06
111Tubulointerstitial kidney disease, autosomal dominant 4EnrichmentREN2.06
112Aortic aneurysm, familial thoracic 2EnrichmentACTA22.06
113Branchiootic syndrome 3EnrichmentSIX12.06
114Piebald traitEnrichmentKIT2.06
115Corneal dystrophy, congenital stromalEnrichmentDCN2.06
116Smooth muscle dysfunction syndromeEnrichmentACTA22.06
117Aortic aneurysm, familial thoracic 6EnrichmentACTA22.06
118Frasier syndromeEnrichmentWT12.06
119Adams-oliver syndrome 5EnrichmentNOTCH12.06
120Cardiomyopathy, dilated, 1iEnrichmentDES2.06
121Angioma, tuftedEnrichmentKDR2.06
122Moyamoya disease 5EnrichmentACTA22.06
123Diamond-blackfan anemia-likeEnrichmentEPO2.06
124Intellectual developmental disorder, autosomal dominant 48EnrichmentRARB2.06
125Inflammatory bowel disease, immunodeficiency, and encephalopathyEnrichmentTGFB12.06
126Infantile myofibromatosisEnrichmentPDGFRB2.06
127Hyperuricemic nephropathy, familial juvenile, 3EnrichmentHNF1B2.06
128Childhood hepatocellular carcinomaEnrichmentCTNNB12.06
129Townes-brocks syndromeEnrichmentSALL12.06
130Focal segmental glomerulosclerosis 7EnrichmentPAX22.06
131Progressive familial heart blockEnrichmentDES2.06
132Erythrocytosis, familial, 3EnrichmentEGLN12.06
133Camurati-engelmann diseaseEnrichmentTGFB12.06
134Juvenile nasopharyngeal angiofibromaEnrichmentCTNNB12.06
135Otofaciocervical syndromeEnrichmentEYA12.06
136B-lymphoblastic leukemia/lymphoma with t(1;19)(q23;p13.3)EnrichmentPBX12.06
137HyperinsulinismEnrichmentHNF4A2.06
138Congenital hypogonadotropic hypogonadismEnrichmentEMX22.06
139TeratomaEnrichmentCTNNB12.06
140B-lymphoblastic leukemia/lymphoma with tEnrichmentKIT2.06
141Genetic nephrotic syndromeEnrichmentNPHS22.06
142Idiopathic nephrotic syndromeEnrichmentNPHS22.06
143Desmoplastic small round cell tumorEnrichmentWT12.06
144Desmoid disease, hereditaryEnrichmentCTNNB11.89
145Alagille syndrome 1EnrichmentJAG11.89
146Mesothelioma, malignantEnrichmentWT11.89
147Myopathy, myofibrillar, 1EnrichmentDES1.89
148Neurodevelopmental disorder with spastic diplegia and visual defectsEnrichmentCTNNB11.89
149Anus, imperforateEnrichmentCTNNB11.89
150Exudative vitreoretinopathy 7EnrichmentCTNNB11.89
151Nephrotic syndrome, type 24EnrichmentNPHS21.89
152Keratoderma-ichthyosis-deafness syndrome, autosomal recessiveEnrichmentHNF1A1.89
153Desmoid tumorEnrichmentCTNNB11.89
154Hennekam syndromeEnrichmentFAT41.89
155Testicular germ cell cancerEnrichmentKIT1.89
156KeratoacanthomaEnrichmentNOTCH11.89
157Familial thoracic aortic aneurysm and aortic dissectionEnrichmentACTA2, NOTCH11.81
158Mirror movements 1EnrichmentNTN11.76
159Aniridia 1EnrichmentWT11.76
160Branchiooculofacial syndromeEnrichmentEYA11.76
161Robinow syndrome, autosomal dominant 1EnrichmentWNT5A1.76
162SchizencephalyEnrichmentEMX21.76
163Autoimmune lymphoproliferative syndromeEnrichmentACTA21.76
164PilomatrixomaEnrichmentCTNNB11.76
165Alazami syndromeEnrichmentCTNNB11.76
166CraniopharyngiomaEnrichmentCTNNB11.76
167Autosomal dominant robinow syndromeEnrichmentWNT5A1.76
168Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22)EnrichmentKIT1.76
169Systemic mastocytosis with associated hematologic neoplasmEnrichmentKIT1.76
170Middle aortic syndromeEnrichmentJAG11.76
171Clear cell papillary renal cell carcinomaEnrichmentHNF1A1.76
172Inherited cancer-predisposing syndromeEnrichmentAXIN2, KIT, WT11.71
173Rare autosomal dominant non-syndromic sensorineural deafness type dfnaEnrichmentSIX1, TNC1.67
174Exudative vitreoretinopathy 1EnrichmentCTNNB11.67
175Robinow syndrome, autosomal recessive 1EnrichmentWNT5A1.67
176Leber congenital amaurosis 10EnrichmentWT11.67
177Ventricular septal defect 1EnrichmentBMP71.67
178Congenital heart defects, multiple types, 4EnrichmentBMP71.67
179Acute myeloid leukemia with maturationEnrichmentKIT1.67
180HoloprosencephalyEnrichmentFGF81.67
181Acute myeloid leukemia with t(8;21)(q22;q22) translocationEnrichmentKIT1.67
182Primary hypereosinophilic syndromeEnrichmentPDGFRB1.67
183Weyers acrofacial dysostosisEnrichmentCTNNB11.59
184Wilms tumor, aniridia, genitourinary anomalies, and impaired intellectual development syndromeEnrichmentWT11.59
185Holoprosencephaly 1EnrichmentFGF81.59
186Moyamoya disease 1EnrichmentACTA21.59
187Type 1 diabetes mellitusEnrichmentHNF1A1.59
188Testicular germ cell tumorEnrichmentKIT1.59
189Wilms tumor 5EnrichmentWT11.59
190Renal tubular dysgenesisEnrichmentREN1.59
191Hemangioma, capillary infantileEnrichmentKDR1.59
192Anterior segment dysgenesis 5EnrichmentBMP41.59
193Congenital anomalies of kidney and urinary tract 1EnrichmentPAX21.59
194Inflammatory bowel disease 25, autosomal recessiveEnrichmentTGFB11.59
195Autosomal recessive robinow syndromeEnrichmentWNT5A1.59
196Renal hypoplasiaEnrichmentPAX21.59
197Adrenocortical carcinomaEnrichmentCTNNB11.59
198Clear cell renal cell carcinomaEnrichmentHNF1A1.59
199Il10-related early-onset inflammatory bowel diseaseEnrichmentTGFB11.59
200Primary ovarian insufficiencyEnrichmentKDR, WT11.57
201Gastrointestinal stromal tumorEnrichmentKIT1.52
202Adams-oliver syndromeEnrichmentNOTCH11.52
203Gallbladder cancerEnrichmentCTNNB11.52
204Myofibrillar myopathyEnrichmentDES1.52
205Basal ganglia calcification, idiopathic, 1EnrichmentPDGFRB1.46
206Exudative vitreoretinopathyEnrichmentCTNNB11.46
207Hypoplastic left heart syndromeEnrichmentNOTCH11.46
208Difference of sex developmentEnrichmentWT11.46
209Tooth agenesis, selective, 1EnrichmentAXIN21.41
210Leukemia, acute lymphoblastic 3EnrichmentWT11.41
211Adult hepatocellular carcinomaEnrichmentCTNNB11.41
212Congenital central hypoventilation syndromeEnrichmentGDNF1.41
213Cystic kidney diseaseEnrichmentPAX21.41
214Renal agenesis, bilateralEnrichmentEYA11.41
215Peters-plus syndromeEnrichmentBMP41.37
216Stickler syndromeEnrichmentBMP41.37
21746,xy complete gonadal dysgenesisEnrichmentWT11.33
218Diabetes mellitusEnrichmentHNF1A1.33
219Digeorge syndromeEnrichmentHNF1A1.29
220Renal hypodysplasia/aplasia 3EnrichmentBMP41.29
221Lip and oral cavity carcinomaEnrichmentKIT1.29
222Colorectal cancerEnrichmentAXIN2, CTNNB11.26
223Aortic valve disease 1EnrichmentNOTCH11.26
224Acute promyelocytic leukemiaEnrichmentRARA1.26
225Chronic kidney diseaseEnrichmentNPHS21.26
226MedulloblastomaEnrichmentCTNNB11.23
227Aortic aneurysm, familial thoracic 1EnrichmentNOTCH11.23
228Lung cancer susceptibility 3EnrichmentACTA21.23
229Cleft lip/palateEnrichmentBMP41.23
23046,xy partial gonadal dysgenesisEnrichmentWT11.23
231Wilms tumor 1EnrichmentWT11.20
232HydrocephalusEnrichmentPDGFRB1.20
233Septopreoptic holoprosencephalyEnrichmentFGF81.20
234Midline interhemispheric variant of holoprosencephalyEnrichmentFGF81.20
235Arrhythmogenic right ventricular cardiomyopathyEnrichmentDES1.17
236Microform holoprosencephalyEnrichmentFGF81.17
237Lobar holoprosencephalyEnrichmentFGF81.17
238Dandy-walker syndromeEnrichmentPDGFRB1.15
239Cardiomyopathy, dilated, 1eEnrichmentDES1.15
240Alobar holoprosencephalyEnrichmentFGF81.15
241Heart, malformation ofEnrichmentJAG11.12
242Neuromuscular diseaseEnrichmentDES1.12
243Semilobar holoprosencephalyEnrichmentFGF81.12
244Normosmic congenital hypogonadotropic hypogonadismEnrichmentFGF81.12
245Macs syndromeEnrichmentVSX21.08
246Hepatocellular carcinomaEnrichmentCTNNB11.04
247Tooth agenesisEnrichmentAXIN21.04
248Kallmann syndromeEnrichmentFGF81.02
249Precursor t-cell acute lymphoblastic leukemiaEnrichmentTLX11.02
250Bladder cancerEnrichmentCTNNB10.92
251Prostate cancerEnrichmentHNF1B0.92
252Lung cancerEnrichmentACTA20.88
253Cystic fibrosisEnrichmentTGFB10.88
254Familial hypertrophic cardiomyopathyEnrichmentDES0.87
255Cerebral palsyEnrichmentPDGFRB0.81
256Leukemia, acute myeloidEnrichmentKIT0.80
257Familial isolated dilated cardiomyopathyEnrichmentDES0.68
258Male infertility with azoospermia or oligozoospermia due to single gene mutationEnrichmentFGF80.66
259Breast cancerEnrichmentHNF1A0.55
260Rare genetic deafnessEnrichmentEYA10.53
261Dilated cardiomyopathyEnrichmentDES0.53
262Hereditary retinal dystrophyEnrichmentJAG1, PAX20.44
263Fundus dystrophyEnrichmentJAG1, PAX20.44
264Congenital nervous system abnormalityEnrichmentCTNNB10.43
265Nervous system diseaseEnrichmentCTNNB10.43
266Autism spectrum disorderEnrichmentPBX10.42
267MicrocephalyEnrichmentCTNNB10.38
268Retinitis pigmentosaEnrichmentVSX20.22

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