Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
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HPO disease - gene - phenotype typical associations: |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0000104 | HP:0000104 | Renal agenesis | 0 | ADA2 CL E G H | 51816 | 1839 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040283 - Occasional | | | 22 | | |
HP:0000104 | HP:0000104 | Renal agenesis | 0 | ALDH18A1 CL E G H | 5832 | 9722 | ORPHA:90348 | Autosomal dominant cutis laxa | | | | 89 | | |
HP:0000104 | HP:0000104 | Renal agenesis | 0 | ALDH18A1 CL E G H | 5832 | 9722 | OMIM:616603 | Cutis laxa, autosomal dominant 3 | | | | 89 | | |
HP:0000104 | HP:0000104 | Renal agenesis | 0 | ALKBH8 CL E G H | 91801 | 25189 | OMIM:618504 | Intellectual developmental disorder, autosomal recessive 71 | | | | | | |
HP:0000104 | HP:0000104 | Renal agenesis | 0 | ANKLE2 CL E G H | 23141 | 29101 | ORPHA:2512 | Autosomal recessive primary microcephaly | | | | 3 | | |
HP:0000104 | HP:0000104 | Renal agenesis | 0 | ANKRD17 CL E G H | 26057 | 23575 | OMIM:619504 | CHOPRA-AMIEL-GORDON SYNDROME; CAGS | | | | 2 | | |
HP:0000104 | HP:0000104 | Renal agenesis | 0 | ANOS1 CL E G H | 3730 | 6211 | OMIM:308700 | Hypogonadotropic hypogonadism 1 with or without anosmia | | | | 65 | | |
HP:0000104 | HP:0000104 | Renal agenesis | 0 | ANOS1 CL E G H | 3730 | 6211 | ORPHA:478 | Kallmann syndrome | HP:0040283 - Occasional | | | 65 | | |
HP:0000104 | HP:0000104 | Renal agenesis | 0 | APC2 CL E G H | 10297 | 24036 | ORPHA:821 | Sotos syndrome | HP:0040284 - Very rare | | | 1 | | |
HP:0000104 | HP:0000104 | Renal agenesis | 0 | ASPM CL E G H | 259266 | 19048 | ORPHA:2512 | Autosomal recessive primary microcephaly | | | | 512 | | |
HP:0000104 | HP:0000104 | Renal agenesis | 0 | ASXL2 CL E G H | 55252 | 23805 | OMIM:617190 | Shashi-Pena syndrome | | | | 7 | | |
HP:0000104 | HP:0000104 | Renal agenesis | 0 | ATN1 CL E G H | 1822 | 3033 | OMIM:618494 | Congenital hypotonia, epilepsy, developmental delay, and digital anomalies | HP:0040284 - Very rare | | | 16 | | |
HP:0000104 | HP:0000104 | Renal agenesis | 0 | ATRX CL E G H | 546 | 886 | OMIM:301040 | Alpha-Thalassemia/mental retardation syndrome, X-linked | . | | | 169 | | |
HP:0000104 | HP:0000104 | Renal agenesis | 0 | CCDC141 CL E G H | 285025 | 26821 | ORPHA:478 | Kallmann syndrome | HP:0040283 - Occasional | | | | | |
HP:0000104 | HP:0000104 | Renal agenesis | 0 | CCNQ CL E G H | 92002 | 28434 | ORPHA:140952 | Syndactyly-telecanthus-anogenital and renal malformations syndrome | HP:0040282 - Frequent | | | 7 | | |
HP:0000104 | HP:0000104 | Renal agenesis | 0 | CDC42 CL E G H | 998 | 1736 | ORPHA:487796 | Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome | | | | 6 | | |
HP:0000104 | HP:0000104 | Renal agenesis | 0 | CDC42 CL E G H | 998 | 1736 | OMIM:616737 | Takenouchi-Kosaki syndrome | | | | 6 | | |
HP:0000104 | HP:0000104 | Renal agenesis | 0 | CDK5RAP2 CL E G H | 55755 | 18672 | ORPHA:2512 | Autosomal recessive primary microcephaly | | | | 181 | | |
HP:0000104 | HP:0000104 | Renal agenesis | 0 | CDK6 CL E G H | 1021 | 1777 | ORPHA:2512 | Autosomal recessive primary microcephaly | | | | 6 | | |
HP:0000104 | HP:0000104 | Renal agenesis | 0 | CDON CL E G H | 50937 | 17104 | ORPHA:280200 | Microform holoprosencephaly | HP:0040283 - Occasional | | | 200 | | |
HP:0000104 | HP:0000104 | Renal agenesis | 0 | CENPJ CL E G H | 55835 | 17272 | ORPHA:2512 | Autosomal recessive primary microcephaly | | | | 161 | | |
HP:0000104 | HP:0000104 | Renal agenesis | 0 | CEP135 CL E G H | 9662 | 29086 | ORPHA:2512 | Autosomal recessive primary microcephaly | | | | 38 | | |
HP:0000104 | HP:0000104 | Renal agenesis | 0 | CEP152 CL E G H | 22995 | 29298 | ORPHA:2512 | Autosomal recessive primary microcephaly | | | | 146 | | |
HP:0000104 | HP:0000104 | Renal agenesis | 0 | CEP63 CL E G H | 80254 | 25815 | ORPHA:2512 | Autosomal recessive primary microcephaly | | | | 31 | | |
HP:0000104 | HP:0000104 | Renal agenesis | 0 | CHD7 CL E G H | 55636 | 20626 | OMIM:214800 | Charge syndrome | . | | | 515 | | |
HP:0000104 | HP:0000104 | Renal agenesis | 0 | CHD7 CL E G H | 55636 | 20626 | ORPHA:478 | Kallmann syndrome | HP:0040283 - Occasional | | | 515 | | |
HP:0000104 | HP:0000104 | Renal agenesis | 0 | CIT CL E G H | 11113 | 1985 | ORPHA:2512 | Autosomal recessive primary microcephaly | | | | 15 | | |
HP:0000104 | HP:0000104 | Renal agenesis | 0 | CIT CL E G H | 11113 | 1985 | OMIM:617090 | Microcephaly 17, primary, autosomal recessive | . | | | 15 | | |
HP:0000104 | HP:0000104 | Renal agenesis | 0 | COG6 CL E G H | 57511 | 18621 | OMIM:614576 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl; CDG2L | | | | 71 | | |
HP:0000104 | HP:0000104 | Renal agenesis | 0 | COPB2 CL E G H | 9276 | 2232 | ORPHA:2512 | Autosomal recessive primary microcephaly | | | | | | |
HP:0000104 | HP:0000104 | Renal agenesis | 0 | CPLANE1 CL E G H | 65250 | 25801 | ORPHA:2754 | Orofaciodigital syndrome type 6 | HP:0040283 - Occasional | | | | | |
HP:0000104 | HP:0000104 | Renal agenesis | 0 | CPLANE1 CL E G H | 65250 | 25801 | OMIM:277170 | Orofaciodigital syndrome VI | . | | | | | |
HP:0000104 | HP:0000104 | Renal agenesis | 0 | CTU2 CL E G H | 348180 | 28005 | OMIM:618142 | Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome | | | | 1 | | |
HP:0000104 | HP:0000104 | Renal agenesis | 0 | DCC CL E G H | 1630 | 2701 | ORPHA:478 | Kallmann syndrome | HP:0040283 - Occasional | | | 36 | | |
HP:0000104 | HP:0000104 | Renal agenesis | 0 | DHCR24 CL E G H | 1718 | 2859 | ORPHA:35107 | Desmosterolosis | HP:0040283 - Occasional | | | 72 | | |
HP:0000104 | HP:0000104 | Renal agenesis | 0 | DHCR7 CL E G H | 1717 | 2860 | OMIM:270400 | Smith-Lemli-Opitz syndrome | | | | 159 | | |
HP:0000104 | HP:0000104 | Renal agenesis | 0 | DISP1 CL E G H | 84976 | 19711 | ORPHA:280200 | Microform holoprosencephaly | HP:0040283 - Occasional | | | 22 | | |
HP:0000104 | HP:0000104 | Renal agenesis | 0 | DLL1 CL E G H | 28514 | 2908 | ORPHA:280200 | Microform holoprosencephaly | HP:0040283 - Occasional | | | 3 | | |
HP:0000104 | HP:0000104 | Renal agenesis | 0 | DUSP6 CL E G H | 1848 | 3072 | ORPHA:478 | Kallmann syndrome | HP:0040283 - Occasional | | | 4 | | |
HP:0000104 | HP:0000104 | Renal agenesis | 0 | DYRK1A CL E G H | 1859 | 3091 | ORPHA:268261 | DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion | | | | 134 | | |
HP:0000104 | HP:0000104 | Renal agenesis | 0 | DYRK1A CL E G H | 1859 | 3091 | ORPHA:464311 | Intellectual disability syndrome due to a DYRK1A point mutation | | | | 134 | | |
HP:0000104 | HP:0000104 | Renal agenesis | 0 | ELN CL E G H | 2006 | 3327 | ORPHA:90348 | Autosomal dominant cutis laxa | | | | 172 | | |
HP:0000104 | HP:0000104 | Renal agenesis | 0 | ERCC6 CL E G H | 2074 | 3438 | ORPHA:90324 | Cockayne syndrome type 3 | | | | 199 | | |
HP:0000104 | HP:0000104 | Renal agenesis | 0 | ERCC8 CL E G H | 1161 | 3439 | ORPHA:90324 | Cockayne syndrome type 3 | | | | 55 | | |
HP:0000104 | HP:0000104 | Renal agenesis | 0 | EYA1 CL E G H | 2138 | 3519 | OMIM:113650 | Branchiootorenal syndrome 1 | . | | | 135 | | |
HP:0000104 | HP:0000104 | Renal agenesis | 0 | FAM149B1 CL E G H | 317662 | 29162 | ORPHA:2754 | Orofaciodigital syndrome type 6 | HP:0040283 - Occasional | | | | | |
HP:0000104 | HP:0000104 | Renal agenesis | 0 | FANCA CL E G H | 2175 | 3582 | OMIM:227650 | Fanconi anemia | . | | | 340 | | |
HP:0000104 | HP:0000104 | Renal agenesis | 0 | FANCB CL E G H | 2187 | 3583 | OMIM:300514 | FANCONI ANEMIA, COMPLEMENTATION GROUP B; FANCB | | | | 58 | | |
HP:0000104 | HP:0000104 | Renal agenesis | 0 | FANCB CL E G H | 2187 | 3583 | ORPHA:3412 | VACTERL with hydrocephalus | HP:0040281 - Very frequent | | | 58 | | |
HP:0000104 | HP:0000104 | Renal agenesis | 0 | FANCC CL E G H | 2176 | 3584 | OMIM:227645 | Fanconi anemia, complementation group C | . | | | 410 | | |
HP:0000104 | HP:0000104 | Renal agenesis | 0 | FANCD2 CL E G H | 2177 | 3585 | OMIM:227646 | Fanconi anemia, complementation group D2 | . | | | 147 | | |
HP:0000104 | HP:0000104 | Renal agenesis | 0 | FANCE CL E G H | 2178 | 3586 | OMIM:600901 | Fanconi anemia, complementation group E | . | | | 73 | | |
HP:0000104 | HP:0000104 | Renal agenesis | 0 | FANCL CL E G H | 55120 | 20748 | OMIM:614083 | Fanconi anemia, complementation group L | | | | 53 | | |
HP:0000104 | HP:0000104 | Renal agenesis | 0 | FBLN5 CL E G H | 10516 | 3602 | ORPHA:90348 | Autosomal dominant cutis laxa | | | | 63 | | |
HP:0000104 | HP:0000104 | Renal agenesis | 0 | FEZF1 CL E G H | 389549 | 22788 | ORPHA:478 | Kallmann syndrome | HP:0040283 - Occasional | | | 2 | | |
HP:0000104 | HP:0000104 | Renal agenesis | 0 | FGF10 CL E G H | 2255 | 3666 | OMIM:149730 | Lacrimoauriculodentodigital syndrome | . | | | 17 | | |
HP:0000104 | HP:0000104 | Renal agenesis | 0 | FGF17 CL E G H | 8822 | 3673 | ORPHA:478 | Kallmann syndrome | HP:0040283 - Occasional | | | 3 | | |
HP:0000104 | HP:0000104 | Renal agenesis | 0 | FGF20 CL E G H | 26281 | 3677 | ORPHA:1848 | Renal agenesis, bilateral | HP:0040281 - Very frequent | | | 2 | | |
HP:0000104 | HP:0000104 | Renal agenesis | 0 | FGF8 CL E G H | 2253 | 3686 | ORPHA:478 | Kallmann syndrome | HP:0040283 - Occasional | | | 17 | | |
HP:0000104 | HP:0000104 | Renal agenesis | 0 | FGF8 CL E G H | 2253 | 3686 | ORPHA:280200 | Microform holoprosencephaly | HP:0040283 - Occasional | | | 17 | | |
HP:0000104 | HP:0000104 | Renal agenesis | 0 | FGFR1 CL E G H | 2260 | 3688 | ORPHA:478 | Kallmann syndrome | HP:0040283 - Occasional | | | 172 | | |
HP:0000104 | HP:0000104 | Renal agenesis | 0 | FGFR1 CL E G H | 2260 | 3688 | ORPHA:280200 | Microform holoprosencephaly | HP:0040283 - Occasional | | | 172 | | |
HP:0000104 | HP:0000104 | Renal agenesis | 0 | FGFR2 CL E G H | 2263 | 3689 | OMIM:149730 | Lacrimoauriculodentodigital syndrome | . | | | 175 | | |
HP:0000104 | HP:0000104 | Renal agenesis | 0 | FGFR3 CL E G H | 2261 | 3690 | OMIM:149730 | Lacrimoauriculodentodigital syndrome | . | | | 145 | | |
HP:0000104 | HP:0000104 | Renal agenesis | 0 | FLRT3 CL E G H | 23767 | 3762 | ORPHA:478 | Kallmann syndrome | HP:0040283 - Occasional | | | 4 | | |
HP:0000104 | HP:0000104 | Renal agenesis | 0 | FOXH1 CL E G H | 8928 | 3814 | ORPHA:280200 | Microform holoprosencephaly | HP:0040283 - Occasional | | | 48 | | |
HP:0000104 | HP:0000104 | Renal agenesis | 0 | FREM1 CL E G H | 158326 | 23399 | OMIM:608980 | Bifid nose with or without anorectal and renal anomalies | | | | 198 | | |
HP:0000104 | HP:0000104 | Renal agenesis | 0 | FREM1 CL E G H | 158326 | 23399 | ORPHA:217266 | BNAR syndrome | HP:0040282 - Frequent | | | 198 | | |
HP:0000104 | HP:0000104 | Renal agenesis | 0 | FREM2 CL E G H | 341640 | 25396 | OMIM:617666 | Fraser syndrome 2 | . | | | 263 | | |
HP:0000104 | HP:0000104 | Renal agenesis | 0 | FUZ CL E G H | 80199 | 26219 | ORPHA:3027 | Caudal regression sequence | HP:0040282 - Frequent | | | 3 | | |
HP:0000104 | HP:0000104 | Renal agenesis | 0 | GAS1 CL E G H | 2619 | 4165 | ORPHA:280200 | Microform holoprosencephaly | HP:0040283 - Occasional | | | 2 | | |
HP:0000104 | HP:0000104 | Renal agenesis | 0 | GATA1 CL E G H | 2623 | 4170 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040283 - Occasional | | | 29 | | |
HP:0000104 | HP:0000104 | Renal agenesis | 0 | GATA3 CL E G H | 2625 | 4172 | ORPHA:2237 | Hypoparathyroidism-sensorineural deafness-renal disease syndrome | | | | 83 | | |
HP:0000104 | HP:0000104 | Renal agenesis | 0 | GDF6 CL E G H | 392255 | 4221 | OMIM:118100 | Klippel-Feil syndrome 1, autosomal dominant | | | | 64 | | |
HP:0000104 | HP:0000104 | Renal agenesis | 0 | GFRA1 CL E G H | 2674 | 4243 | OMIM:619887 | | | | | 1 | | |
HP:0000104 | HP:0000104 | Renal agenesis | 0 | GFRA1 CL E G H | 2674 | 4243 | ORPHA:1848 | Renal agenesis, bilateral | HP:0040281 - Very frequent | | | 1 | | |
HP:0000104 | HP:0000104 | Renal agenesis | 0 | GLI2 CL E G H | 2736 | 4318 | ORPHA:280200 | Microform holoprosencephaly | HP:0040283 - Occasional | | | 173 | | |
HP:0000104 | HP:0000104 | Renal agenesis | 0 | GLI3 CL E G H | 2737 | 4319 | ORPHA:672 | Pallister-Hall syndrome | | | | 270 | | |
HP:0000104 | HP:0000104 | Renal agenesis | 0 | GNB2 CL E G H | 2783 | 4398 | OMIM:619503 | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF | | | | | | |
HP:0000104 | HP:0000104 | Renal agenesis | 0 | GREB1L CL E G H | 80000 | 31042 | ORPHA:1848 | Renal agenesis, bilateral | HP:0040281 - Very frequent | | | | | |
HP:0000104 | HP:0000104 | Renal agenesis | 0 | GREB1L CL E G H | 80000 | 31042 | OMIM:617805 | Renal hypodysplasia/aplasia 3 | . | | | | | |
HP:0000104 | HP:0000104 | Renal agenesis | 0 | H4C9 CL E G H | 8294 | 4793 | OMIM:619951 | | | | | | | |
HP:0000104 | HP:0000104 | Renal agenesis | 0 | HESX1 CL E G H | 8820 | 4877 | ORPHA:478 | Kallmann syndrome | HP:0040283 - Occasional | | | 21 | | |
HP:0000104 | HP:0000104 | Renal agenesis | 0 | HNF1B CL E G H | 6928 | 11630 | ORPHA:93111 | HNF1B-related autosomal dominant tubulointerstitial kidney disease | HP:0040283 - Occasional | | | 90 | | |
HP:0000104 | HP:0000104 | Renal agenesis | 0 | HNF1B CL E G H | 6928 | 11630 | OMIM:137920 | Renal cysts and diabetes syndrome | | | | 90 | | |
HP:0000104 | HP:0000104 | Renal agenesis | 0 | HOXD13 CL E G H | 3239 | 5136 | ORPHA:887 | VACTERL/VATER association | HP:0040282 - Frequent | | | 25 | | |
HP:0000104 | HP:0000104 | Renal agenesis | 0 | HS2ST1 CL E G H | 9653 | 5193 | OMIM:619194 | NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS; NFSRA | | | | | | |
HP:0000104 | HP:0000104 | Renal agenesis | 0 | HS6ST1 CL E G H | 9394 | 5201 | ORPHA:478 | Kallmann syndrome | HP:0040283 - Occasional | | | 8 | | |
HP:0000104 | HP:0000104 | Renal agenesis | 0 | IDH1 CL E G H | 3417 | 5382 | ORPHA:99646 | Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria | | | | 15 | | |
HP:0000104 | HP:0000104 | Renal agenesis | 0 | IL17RD CL E G H | 54756 | 17616 | ORPHA:478 | Kallmann syndrome | HP:0040283 - Occasional | | | 9 | | |
HP:0000104 | HP:0000104 | Renal agenesis | 0 | INSL3 CL E G H | 3640 | 6086 | OMIM:219050 | Cryptorchidism, unilateral or bilateral | . | | | 5 | | |
HP:0000104 | HP:0000104 | Renal agenesis | 0 | ITGA8 CL E G H | 8516 | 6144 | ORPHA:1848 | Renal agenesis, bilateral | HP:0040281 - Very frequent | | | 4 | | |
HP:0000104 | HP:0000104 | Renal agenesis | 0 | ITGA8 CL E G H | 8516 | 6144 | OMIM:191830 | Renal hypodysplasia/aplasia 1 | . | | | 4 | | |
HP:0000104 | HP:0000104 | Renal agenesis | 0 | KCTD1 CL E G H | 284252 | 18249 | OMIM:181270 | Scalp-Ear-Nipple syndrome | HP:0040283 - Occasional | | | 11 | | |
HP:0000104 | HP:0000104 | Renal agenesis | 0 | KIAA0753 CL E G H | 9851 | 29110 | ORPHA:2754 | Orofaciodigital syndrome type 6 | HP:0040283 - Occasional | | | 4 | | |
HP:0000104 | HP:0000104 | Renal agenesis | 0 | KIF14 CL E G H | 9928 | 19181 | ORPHA:2512 | Autosomal recessive primary microcephaly | | | | 9 | | |
HP:0000104 | HP:0000104 | Renal agenesis | 0 | KIF14 CL E G H | 9928 | 19181 | OMIM:616258 | Meckel syndrome 12 | . | | | 9 | | |
HP:0000104 | HP:0000104 | Renal agenesis | 0 | KIF7 CL E G H | 374654 | 30497 | ORPHA:2754 | Orofaciodigital syndrome type 6 | HP:0040283 - Occasional | | | 167 | | |
HP:0000104 | HP:0000104 | Renal agenesis | 0 | KNL1 CL E G H | 57082 | 24054 | ORPHA:2512 | Autosomal recessive primary microcephaly | | | | 112 | | |
HP:0000104 | HP:0000104 | Renal agenesis | 0 | KNSTRN CL E G H | 90417 | 30767 | ORPHA:221139 | Combined immunodeficiency with faciooculoskeletal anomalies | | | | 1 | | |
HP:0000104 | HP:0000104 | Renal agenesis | 0 | KYNU CL E G H | 8942 | 6469 | OMIM:617661 | Vertebral, cardiac, renal, and limb defects syndrome 2 | | | | 5 | | |
HP:0000104 | HP:0000104 | Renal agenesis | 0 | LMBRD1 CL E G H | 55788 | 23038 | ORPHA:79284 | Methylmalonic acidemia with homocystinuria type cblF | | | | 46 | | |
HP:0000104 | HP:0000104 | Renal agenesis | 0 | LRP4 CL E G H | 4038 | 6696 | OMIM:212780 | Cenani-Lenz syndactyly syndrome | . | | | 124 | | |
HP:0000104 | HP:0000104 | Renal agenesis | 0 | MBTPS2 CL E G H | 51360 | 15455 | OMIM:308205 | Ifap syndrome with or without bresheck syndrome | | | | 22 | | |
HP:0000104 | HP:0000104 | Renal agenesis | 0 | MCM7 CL E G H | 4176 | 6950 | ORPHA:2512 | Autosomal recessive primary microcephaly | | | | | | |
HP:0000104 | HP:0000104 | Renal agenesis | 0 | MCPH1 CL E G H | 79648 | 6954 | ORPHA:2512 | Autosomal recessive primary microcephaly | | | | 155 | | |
HP:0000104 | HP:0000104 | Renal agenesis | 0 | METTL5 CL E G H | 29081 | 25006 | ORPHA:2512 | Autosomal recessive primary microcephaly | | | | | | |
HP:0000104 | HP:0000104 | Renal agenesis | 0 | MFSD2A CL E G H | 84879 | 25897 | ORPHA:2512 | Autosomal recessive primary microcephaly | | | | 5 | | |
HP:0000104 | HP:0000104 | Renal agenesis | 0 | MKS1 CL E G H | 54903 | 7121 | OMIM:249000 | Meckel syndrome 1 | . | | | 127 | | |
HP:0000104 | HP:0000104 | Renal agenesis | 0 | NADSYN1 CL E G H | 55191 | 29832 | OMIM:618845 | VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 3; VCRL3 | | | | | | |
HP:0000104 | HP:0000104 | Renal agenesis | 0 | NCAPD3 CL E G H | 23310 | 28952 | ORPHA:2512 | Autosomal recessive primary microcephaly | | | | 1 | | |
HP:0000104 | HP:0000104 | Renal agenesis | 0 | NDNF CL E G H | 79625 | 26256 | ORPHA:478 | Kallmann syndrome | HP:0040283 - Occasional | | | | | |
HP:0000104 | HP:0000104 | Renal agenesis | 0 | NDUFAF3 CL E G H | 25915 | 29918 | ORPHA:70474 | Leigh syndrome with cardiomyopathy | HP:0040283 - Occasional | | | 31 | | |
HP:0000104 | HP:0000104 | Renal agenesis | 0 | NDUFB8 CL E G H | 4714 | 7703 | ORPHA:70474 | Leigh syndrome with cardiomyopathy | HP:0040283 - Occasional | | | | | |
HP:0000104 | HP:0000104 | Renal agenesis | 0 | NDUFS2 CL E G H | 4720 | 7708 | ORPHA:70474 | Leigh syndrome with cardiomyopathy | HP:0040283 - Occasional | | | 65 | | |
HP:0000104 | HP:0000104 | Renal agenesis | 0 | NODAL CL E G H | 4838 | 7865 | ORPHA:280200 | Microform holoprosencephaly | HP:0040283 - Occasional | | | 45 | | |
HP:0000104 | HP:0000104 | Renal agenesis | 0 | NSD1 CL E G H | 64324 | 14234 | ORPHA:821 | Sotos syndrome | HP:0040284 - Very rare | | | 544 | | |
HP:0000104 | HP:0000104 | Renal agenesis | 0 | NSDHL CL E G H | 50814 | 13398 | OMIM:308050 | Congenital hemidysplasia with ichthyosiform erythroderma and limb defects | . | | | 34 | | |
HP:0000104 | HP:0000104 | Renal agenesis | 0 | OFD1 CL E G H | 8481 | 2567 | ORPHA:2754 | Orofaciodigital syndrome type 6 | HP:0040283 - Occasional | | | 201 | | |
HP:0000104 | HP:0000104 | Renal agenesis | 0 | PBX1 CL E G H | 5087 | 8632 | OMIM:617641 | Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay | . | | | 3 | | |
HP:0000104 | HP:0000104 | Renal agenesis | 0 | PDE6D CL E G H | 5147 | 8788 | ORPHA:2754 | Orofaciodigital syndrome type 6 | HP:0040283 - Occasional | | | 1 | | |
HP:0000104 | HP:0000104 | Renal agenesis | 0 | PHC1 CL E G H | 1911 | 3182 | ORPHA:2512 | Autosomal recessive primary microcephaly | | | | 16 | | |
HP:0000104 | HP:0000104 | Renal agenesis | 0 | PHGDH CL E G H | 26227 | 8923 | OMIM:256520 | Neu-Laxova syndrome | . | | | 37 | | |
HP:0000104 | HP:0000104 | Renal agenesis | 0 | PIEZO2 CL E G H | 63895 | 26270 | ORPHA:2461 | Marden-Walker syndrome | HP:0040283 - Occasional | | | 77 | | |
HP:0000104 | HP:0000104 | Renal agenesis | 0 | PIK3C2A CL E G H | 5286 | 8971 | OMIM:618440 | Oculoskeletodental syndrome | HP:0040284 - Very rare | | | | | |
HP:0000104 | HP:0000104 | Renal agenesis | 0 | PIK3CD CL E G H | 5293 | 8977 | ORPHA:221139 | Combined immunodeficiency with faciooculoskeletal anomalies | | | | 9 | | |
HP:0000104 | HP:0000104 | Renal agenesis | 0 | POR CL E G H | 5447 | 9208 | ORPHA:95699 | Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency | | | | 76 | | |
HP:0000104 | HP:0000104 | Renal agenesis | 0 | PPFIBP1 CL E G H | 8496 | 9249 | OMIM:620024 | | | | | | | |
HP:0000104 | HP:0000104 | Renal agenesis | 0 | PPP2R1A CL E G H | 5518 | 9302 | OMIM:616362 | Mental retardation, autosomal dominant 36 | | | | 13 | | |
HP:0000104 | HP:0000104 | Renal agenesis | 0 | PPP2R1A CL E G H | 5518 | 9302 | ORPHA:457284 | Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome | | | | 13 | | |
HP:0000104 | HP:0000104 | Renal agenesis | 0 | PPP2R3C CL E G H | 55012 | 17485 | OMIM:618419 | Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy | | | | | | |
HP:0000104 | HP:0000104 | Renal agenesis | 0 | PRKAR1A CL E G H | 5573 | 9388 | OMIM:101800 | Acrodysostosis 1, with or without hormone resistance | | | | 134 | | |
HP:0000104 | HP:0000104 | Renal agenesis | 0 | PROK2 CL E G H | 60675 | 18455 | ORPHA:478 | Kallmann syndrome | HP:0040283 - Occasional | | | 9 | | |
HP:0000104 | HP:0000104 | Renal agenesis | 0 | PROKR2 CL E G H | 128674 | 15836 | OMIM:244200 | Hypogonadotropic hypogonadism 3 with or without anosmia | | | | 34 | | |
HP:0000104 | HP:0000104 | Renal agenesis | 0 | PROKR2 CL E G H | 128674 | 15836 | ORPHA:478 | Kallmann syndrome | HP:0040283 - Occasional | | | 34 | | |
HP:0000104 | HP:0000104 | Renal agenesis | 0 | PTCH1 CL E G H | 5727 | 9585 | ORPHA:280200 | Microform holoprosencephaly | HP:0040283 - Occasional | | | 665 | | |
HP:0000104 | HP:0000104 | Renal agenesis | 0 | PTPN11 CL E G H | 5781 | 9644 | OMIM:151100 | Leopard syndrome 1 | | | | 291 | | |
HP:0000104 | HP:0000104 | Renal agenesis | 0 | PUF60 CL E G H | 22827 | 17042 | ORPHA:508488 | 8q24.3 microdeletion syndrome | | | | 19 | | |
HP:0000104 | HP:0000104 | Renal agenesis | 0 | PUF60 CL E G H | 22827 | 17042 | ORPHA:508498 | Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome | HP:0040283 - Occasional | | | 19 | | |
HP:0000104 | HP:0000104 | Renal agenesis | 0 | PUF60 CL E G H | 22827 | 17042 | OMIM:615583 | Verheij syndrome | . | | | 19 | | |
HP:0000104 | HP:0000104 | Renal agenesis | 0 | PYCR2 CL E G H | 29920 | 30262 | ORPHA:2512 | Autosomal recessive primary microcephaly | | | | 11 | | |
HP:0000104 | HP:0000104 | Renal agenesis | 0 | RET CL E G H | 5979 | 9967 | ORPHA:1848 | Renal agenesis, bilateral | HP:0040281 - Very frequent | | | 572 | | |
HP:0000104 | HP:0000104 | Renal agenesis | 0 | RPL11 CL E G H | 6135 | 10301 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040283 - Occasional | | | 22 | | |
HP:0000104 | HP:0000104 | Renal agenesis | 0 | RPL15 CL E G H | 6138 | 10306 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040283 - Occasional | | | 3 | | |
HP:0000104 | HP:0000104 | Renal agenesis | 0 | RPL18 CL E G H | 6141 | 10310 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040283 - Occasional | | | | | |
HP:0000104 | HP:0000104 | Renal agenesis | 0 | RPL26 CL E G H | 6154 | 10327 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040283 - Occasional | | | 3 | | |
HP:0000104 | HP:0000104 | Renal agenesis | 0 | RPL26 CL E G H | 6154 | 10327 | OMIM:614900 | Diamond-Blackfan anemia 11 | . | | | 3 | | |
HP:0000104 | HP:0000104 | Renal agenesis | 0 | RPL27 CL E G H | 6155 | 10328 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040283 - Occasional | | | 1 | | |
HP:0000104 | HP:0000104 | Renal agenesis | 0 | RPL31 CL E G H | 6160 | 10334 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040283 - Occasional | | | | | |
HP:0000104 | HP:0000104 | Renal agenesis | 0 | RPL35 CL E G H | 11224 | 10344 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040283 - Occasional | | | | | |
HP:0000104 | HP:0000104 | Renal agenesis | 0 | RPL35A CL E G H | 6165 | 10345 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040283 - Occasional | | | 11 | | |
HP:0000104 | HP:0000104 | Renal agenesis | 0 | RPL5 CL E G H | 6125 | 10360 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040283 - Occasional | | | 40 | | |
HP:0000104 | HP:0000104 | Renal agenesis | 0 | RPS10 CL E G H | 6204 | 10383 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040283 - Occasional | | | 26 | | |
HP:0000104 | HP:0000104 | Renal agenesis | 0 | RPS15A CL E G H | 6210 | 10389 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040283 - Occasional | | | | | |
HP:0000104 | HP:0000104 | Renal agenesis | 0 | RPS17 CL E G H | 6218 | 10397 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040283 - Occasional | | | 5 | | |
HP:0000104 | HP:0000104 | Renal agenesis | 0 | RPS19 CL E G H | 6223 | 10402 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040283 - Occasional | | | 42 | | |
HP:0000104 | HP:0000104 | Renal agenesis | 0 | RPS20 CL E G H | 6224 | 10405 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040283 - Occasional | | | 1 | | |
HP:0000104 | HP:0000104 | Renal agenesis | 0 | RPS24 CL E G H | 6229 | 10411 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040283 - Occasional | | | 22 | | |
HP:0000104 | HP:0000104 | Renal agenesis | 0 | RPS26 CL E G H | 6231 | 10414 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040283 - Occasional | | | 20 | | |
HP:0000104 | HP:0000104 | Renal agenesis | 0 | RPS27 CL E G H | 6232 | 10416 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040283 - Occasional | | | 1 | | |
HP:0000104 | HP:0000104 | Renal agenesis | 0 | RPS28 CL E G H | 6234 | 10418 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040283 - Occasional | | | 1 | | |
HP:0000104 | HP:0000104 | Renal agenesis | 0 | RPS29 CL E G H | 6235 | 10419 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040283 - Occasional | | | 3 | | |
HP:0000104 | HP:0000104 | Renal agenesis | 0 | RPS7 CL E G H | 6201 | 10440 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040283 - Occasional | | | 20 | | |
HP:0000104 | HP:0000104 | Renal agenesis | 0 | RTTN CL E G H | 25914 | 18654 | ORPHA:468631 | Microcephalic cortical malformations-short stature due to RTTN deficiency | | | | 113 | | |
HP:0000104 | HP:0000104 | Renal agenesis | 0 | SALL4 CL E G H | 57167 | 15924 | OMIM:607323 | Duane-Radial ray syndrome | . | | | 86 | | |
HP:0000104 | HP:0000104 | Renal agenesis | 0 | SASS6 CL E G H | 163786 | 25403 | ORPHA:2512 | Autosomal recessive primary microcephaly | | | | 4 | | |
HP:0000104 | HP:0000104 | Renal agenesis | 0 | SCO2 CL E G H | 9997 | 10604 | ORPHA:70474 | Leigh syndrome with cardiomyopathy | HP:0040283 - Occasional | | | 40 | | |
HP:0000104 | HP:0000104 | Renal agenesis | 0 | SDCCAG8 CL E G H | 10806 | 10671 | OMIM:615993 | Bardet-Biedl syndrome 16 | . | | | 61 | | |
HP:0000104 | HP:0000104 | Renal agenesis | 0 | SEMA3A CL E G H | 10371 | 10723 | ORPHA:478 | Kallmann syndrome | HP:0040283 - Occasional | | | 14 | | |
HP:0000104 | HP:0000104 | Renal agenesis | 0 | SETD2 CL E G H | 29072 | 18420 | ORPHA:821 | Sotos syndrome | HP:0040284 - Very rare | | | 60 | | |
HP:0000104 | HP:0000104 | Renal agenesis | 0 | SF3B2 CL E G H | 10992 | 10769 | OMIM:164210 | Hemifacial microsomia | . | | | 2 | | |
HP:0000104 | HP:0000104 | Renal agenesis | 0 | SF3B4 CL E G H | 10262 | 10771 | OMIM:154400 | Acrofacial dysostosis 1, Nager type | | | | 49 | | |
HP:0000104 | HP:0000104 | Renal agenesis | 0 | SF3B4 CL E G H | 10262 | 10771 | ORPHA:245 | Nager syndrome | | | | 49 | | |
HP:0000104 | HP:0000104 | Renal agenesis | 0 | SH2B1 CL E G H | 25970 | 30417 | ORPHA:261222 | Distal 16p11.2 microdeletion syndrome | HP:0040282 - Frequent | | | | | |
HP:0000104 | HP:0000104 | Renal agenesis | 0 | SHH CL E G H | 6469 | 10848 | ORPHA:280200 | Microform holoprosencephaly | HP:0040283 - Occasional | | | 67 | | |
HP:0000104 | HP:0000104 | Renal agenesis | 0 | SIX1 CL E G H | 6495 | 10887 | OMIM:113650 | Branchiootorenal syndrome 1 | . | | | 50 | | |
HP:0000104 | HP:0000104 | Renal agenesis | 0 | SIX3 CL E G H | 6496 | 10889 | ORPHA:280200 | Microform holoprosencephaly | HP:0040283 - Occasional | | | 32 | | |
HP:0000104 | HP:0000104 | Renal agenesis | 0 | SON CL E G H | 6651 | 11183 | ORPHA:500150 | Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome | | | | 12 | | |
HP:0000104 | HP:0000104 | Renal agenesis | 0 | SON CL E G H | 6651 | 11183 | OMIM:617140 | Zttk syndrome | | | | 12 | | |
HP:0000104 | HP:0000104 | Renal agenesis | 0 | SOX10 CL E G H | 6663 | 11190 | ORPHA:478 | Kallmann syndrome | HP:0040283 - Occasional | | | 61 | | |
HP:0000104 | HP:0000104 | Renal agenesis | 0 | SPRY4 CL E G H | 81848 | 15533 | ORPHA:478 | Kallmann syndrome | HP:0040283 - Occasional | | | 5 | | |
HP:0000104 | HP:0000104 | Renal agenesis | 0 | SRCAP CL E G H | 10847 | 16974 | ORPHA:2044 | Floating-Harbor syndrome | HP:0040283 - Occasional | | | 138 | | |
HP:0000104 | HP:0000104 | Renal agenesis | 0 | STIL CL E G H | 6491 | 10879 | ORPHA:2512 | Autosomal recessive primary microcephaly | | | | 99 | | |
HP:0000104 | HP:0000104 | Renal agenesis | 0 | STS CL E G H | 412 | 11425 | ORPHA:281090 | Syndromic recessive X-linked ichthyosis | | | | 19 | | |
HP:0000104 | HP:0000104 | Renal agenesis | 0 | SUFU CL E G H | 51684 | 16466 | ORPHA:280200 | Microform holoprosencephaly | HP:0040283 - Occasional | | | 124 | | |
HP:0000104 | HP:0000104 | Renal agenesis | 0 | SURF1 CL E G H | 6834 | 11474 | ORPHA:70474 | Leigh syndrome with cardiomyopathy | HP:0040283 - Occasional | | | 73 | | |
HP:0000104 | HP:0000104 | Renal agenesis | 0 | TACR3 CL E G H | 6870 | 11528 | ORPHA:478 | Kallmann syndrome | HP:0040283 - Occasional | | | 34 | | |
HP:0000104 | HP:0000104 | Renal agenesis | 0 | TAF13 CL E G H | 6884 | 11546 | ORPHA:2512 | Autosomal recessive primary microcephaly | | | | 2 | | |
HP:0000104 | HP:0000104 | Renal agenesis | 0 | TBC1D24 CL E G H | 57465 | 29203 | OMIM:220500 | Doors syndrome | HP:0040283 - Occasional | | | 271 | | |
HP:0000104 | HP:0000104 | Renal agenesis | 0 | TBX1 CL E G H | 6899 | 11592 | OMIM:188400 | Digeorge syndrome | | | | 32 | | |
HP:0000104 | HP:0000104 | Renal agenesis | 0 | TCTN3 CL E G H | 26123 | 24519 | ORPHA:2753 | Orofaciodigital syndrome type 4 | HP:0040283 - Occasional | | | 31 | | |
HP:0000104 | HP:0000104 | Renal agenesis | 0 | TCTN3 CL E G H | 26123 | 24519 | ORPHA:2754 | Orofaciodigital syndrome type 6 | HP:0040283 - Occasional | | | 31 | | |
HP:0000104 | HP:0000104 | Renal agenesis | 0 | TDGF1 CL E G H | 6997 | 11701 | ORPHA:280200 | Microform holoprosencephaly | HP:0040283 - Occasional | | | 1 | | |
HP:0000104 | HP:0000104 | Renal agenesis | 0 | TFAP2A CL E G H | 7020 | 11742 | ORPHA:1297 | Branchio-oculo-facial syndrome | HP:0040283 - Occasional | | | 12 | | |
HP:0000104 | HP:0000104 | Renal agenesis | 0 | TFAP2A CL E G H | 7020 | 11742 | OMIM:113620 | Branchiooculofacial syndrome | . | | | 12 | | |
HP:0000104 | HP:0000104 | Renal agenesis | 0 | TGIF1 CL E G H | 7050 | 11776 | ORPHA:280200 | Microform holoprosencephaly | HP:0040283 - Occasional | | | 32 | | |
HP:0000104 | HP:0000104 | Renal agenesis | 0 | THOC6 CL E G H | 79228 | 28369 | OMIM:613680 | Beaulieu-Boycott-Innes syndrome | . | | | 1 | | |
HP:0000104 | HP:0000104 | Renal agenesis | 0 | THOC6 CL E G H | 79228 | 28369 | ORPHA:363444 | THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome | | | | 1 | | |
HP:0000104 | HP:0000104 | Renal agenesis | 0 | TMCO1 CL E G H | 54499 | 18188 | OMIM:213980 | Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome | | | | 6 | | |
HP:0000104 | HP:0000104 | Renal agenesis | 0 | TMEM216 CL E G H | 51259 | 25018 | ORPHA:2754 | Orofaciodigital syndrome type 6 | HP:0040283 - Occasional | | | 45 | | |
HP:0000104 | HP:0000104 | Renal agenesis | 0 | TMEM67 CL E G H | 91147 | 28396 | OMIM:216360 | Coach syndrome 1 | | | | 166 | | |
HP:0000104 | HP:0000104 | Renal agenesis | 0 | TNXB CL E G H | 7148 | 11976 | OMIM:606408 | Ehlers-Danlos syndrome, classic-like | | | | 134 | | |
HP:0000104 | HP:0000104 | Renal agenesis | 0 | TOPORS CL E G H | 10210 | 21653 | ORPHA:2754 | Orofaciodigital syndrome type 6 | HP:0040283 - Occasional | | | 61 | | |
HP:0000104 | HP:0000104 | Renal agenesis | 0 | TP63 CL E G H | 8626 | 15979 | OMIM:604292 | Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 | . | | | 140 | | |
HP:0000104 | HP:0000104 | Renal agenesis | 0 | TRAPPC10 CL E G H | 7109 | 11868 | ORPHA:2512 | Autosomal recessive primary microcephaly | | | | 1 | | |
HP:0000104 | HP:0000104 | Renal agenesis | 0 | TRAPPC14 CL E G H | 55262 | 25604 | ORPHA:2512 | Autosomal recessive primary microcephaly | | | | | | |
HP:0000104 | HP:0000104 | Renal agenesis | 0 | TSR2 CL E G H | 90121 | 25455 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040283 - Occasional | | | 1 | | |
HP:0000104 | HP:0000104 | Renal agenesis | 0 | TXNL4A CL E G H | 10907 | 30551 | OMIM:608572 | Burn-Mckeown syndrome | | | | 19 | | |
HP:0000104 | HP:0000104 | Renal agenesis | 0 | VANGL1 CL E G H | 81839 | 15512 | ORPHA:3027 | Caudal regression sequence | HP:0040282 - Frequent | | | 111 | | |
HP:0000104 | HP:0000104 | Renal agenesis | 0 | WBP11 CL E G H | 51729 | 16461 | OMIM:619227 | VERTEBRAL, CARDIAC, TRACHEOESOPHAGEAL, RENAL, AND LIMB DEFECTS; VCTERL | | | | | | |
HP:0000104 | HP:0000104 | Renal agenesis | 0 | WDR11 CL E G H | 55717 | 13831 | ORPHA:478 | Kallmann syndrome | HP:0040283 - Occasional | | | 10 | | |
HP:0000104 | HP:0000104 | Renal agenesis | 0 | WDR62 CL E G H | 284403 | 24502 | ORPHA:2512 | Autosomal recessive primary microcephaly | | | | 224 | | |
HP:0000104 | HP:0000104 | Renal agenesis | 0 | WLS CL E G H | 79971 | 30238 | OMIM:619648 | ZAKI SYNDROME; ZKS | | | | | | |
HP:0000104 | HP:0000104 | Renal agenesis | 0 | WNT3 CL E G H | 7473 | 12782 | OMIM:273395 | Tetraamelia, autosomal recessive | . | | | 12 | | |
HP:0000104 | HP:0000104 | Renal agenesis | 0 | WNT4 CL E G H | 54361 | 12783 | OMIM:611812 | 46,xx sex reversal with dysgenesis of kidneys, adrenals, and lungs | HP:0040281 - Very frequent | | | 4 | | |
HP:0000104 | HP:0000104 | Renal agenesis | 0 | WNT4 CL E G H | 54361 | 12783 | ORPHA:3109 | Mayer-Rokitansky-Küster-Hauser syndrome | | | | 4 | | |
HP:0000104 | HP:0000104 | Renal agenesis | 0 | WNT4 CL E G H | 54361 | 12783 | ORPHA:247768 | Müllerian aplasia and hyperandrogenism | HP:0040283 - Occasional | | | 4 | | |
HP:0000104 | HP:0000104 | Renal agenesis | 0 | WNT4 CL E G H | 54361 | 12783 | OMIM:158330 | Mullerian aplasia and hyperandrogenism | | | | 4 | | |
HP:0000104 | HP:0000104 | Renal agenesis | 0 | WNT4 CL E G H | 54361 | 12783 | ORPHA:139466 | SERKAL syndrome | HP:0040280 - Obligate | | | 4 | | |
HP:0000104 | HP:0000104 | Renal agenesis | 0 | WNT9B CL E G H | 7484 | 12779 | ORPHA:1848 | Renal agenesis, bilateral | HP:0040281 - Very frequent | | | | | |
HP:0000104 | HP:0000104 | Renal agenesis | 0 | XRCC4 CL E G H | 7518 | 12831 | OMIM:616541 | Short stature, microcephaly, and endocrine dysfunction | | | | 9 | | |
HP:0000104 | HP:0000104 | Renal agenesis | 0 | ZIC2 CL E G H | 7546 | 12873 | ORPHA:280200 | Microform holoprosencephaly | HP:0040283 - Occasional | | | 34 | | |
HP:0000104 | HP:0000104 | Renal agenesis | 0 | ZIC3 CL E G H | 7547 | 12874 | OMIM:306955 | Heterotaxy, visceral, 1, X-linked | . | | | 39 | | |
HP:0000104 | HP:0000104 | Renal agenesis | 0 | ZMYM2 CL E G H | 7750 | 12989 | OMIM:619522 | NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES; NECRC | | | | | | |
HP:0000104 | HP:0000122 | Unilateral renal agenesis | 1 | ALDH18A1 CL E G H | 5832 | 9722 | ORPHA:90348 | Autosomal dominant cutis laxa | | | | 89 | | |
HP:0000104 | HP:0000122 | Unilateral renal agenesis | 1 | ALDH18A1 CL E G H | 5832 | 9722 | OMIM:616603 | Cutis laxa, autosomal dominant 3 | HP:0040283 - Occasional | | | 89 | | |
HP:0000104 | HP:0000122 | Unilateral renal agenesis | 1 | ALKBH8 CL E G H | 91801 | 25189 | OMIM:618504 | Intellectual developmental disorder, autosomal recessive 71 | | | | | | |
HP:0000104 | HP:0000122 | Unilateral renal agenesis | 1 | ANKLE2 CL E G H | 23141 | 29101 | ORPHA:2512 | Autosomal recessive primary microcephaly | HP:0040282 - Frequent | | | 3 | | |
HP:0000104 | HP:0000122 | Unilateral renal agenesis | 1 | ANKRD17 CL E G H | 26057 | 23575 | OMIM:619504 | CHOPRA-AMIEL-GORDON SYNDROME; CAGS | | | | 2 | | |
HP:0000104 | HP:0000122 | Unilateral renal agenesis | 1 | ANOS1 CL E G H | 3730 | 6211 | OMIM:308700 | Hypogonadotropic hypogonadism 1 with or without anosmia | . | | | 65 | | |
HP:0000104 | HP:0000122 | Unilateral renal agenesis | 1 | ASPM CL E G H | 259266 | 19048 | ORPHA:2512 | Autosomal recessive primary microcephaly | HP:0040282 - Frequent | | | 512 | | |
HP:0000104 | HP:0000122 | Unilateral renal agenesis | 1 | ASXL2 CL E G H | 55252 | 23805 | OMIM:617190 | Shashi-Pena syndrome | | | | 7 | | |
HP:0000104 | HP:0000122 | Unilateral renal agenesis | 1 | ATN1 CL E G H | 1822 | 3033 | OMIM:618494 | Congenital hypotonia, epilepsy, developmental delay, and digital anomalies | | | | 16 | | |
HP:0000104 | HP:0000122 | Unilateral renal agenesis | 1 | CDC42 CL E G H | 998 | 1736 | ORPHA:487796 | Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome | HP:0040283 - Occasional | | | 6 | | |
HP:0000104 | HP:0000122 | Unilateral renal agenesis | 1 | CDC42 CL E G H | 998 | 1736 | OMIM:616737 | Takenouchi-Kosaki syndrome | . | | | 6 | | |
HP:0000104 | HP:0000122 | Unilateral renal agenesis | 1 | CDK5RAP2 CL E G H | 55755 | 18672 | ORPHA:2512 | Autosomal recessive primary microcephaly | HP:0040282 - Frequent | | | 181 | | |
HP:0000104 | HP:0000122 | Unilateral renal agenesis | 1 | CDK6 CL E G H | 1021 | 1777 | ORPHA:2512 | Autosomal recessive primary microcephaly | HP:0040282 - Frequent | | | 6 | | |
HP:0000104 | HP:0000122 | Unilateral renal agenesis | 1 | CENPJ CL E G H | 55835 | 17272 | ORPHA:2512 | Autosomal recessive primary microcephaly | HP:0040282 - Frequent | | | 161 | | |
HP:0000104 | HP:0000122 | Unilateral renal agenesis | 1 | CEP135 CL E G H | 9662 | 29086 | ORPHA:2512 | Autosomal recessive primary microcephaly | HP:0040282 - Frequent | | | 38 | | |
HP:0000104 | HP:0000122 | Unilateral renal agenesis | 1 | CEP152 CL E G H | 22995 | 29298 | ORPHA:2512 | Autosomal recessive primary microcephaly | HP:0040282 - Frequent | | | 146 | | |
HP:0000104 | HP:0000122 | Unilateral renal agenesis | 1 | CEP63 CL E G H | 80254 | 25815 | ORPHA:2512 | Autosomal recessive primary microcephaly | HP:0040282 - Frequent | | | 31 | | |
HP:0000104 | HP:0000122 | Unilateral renal agenesis | 1 | CIT CL E G H | 11113 | 1985 | ORPHA:2512 | Autosomal recessive primary microcephaly | HP:0040282 - Frequent | | | 15 | | |
HP:0000104 | HP:0000122 | Unilateral renal agenesis | 1 | COG6 CL E G H | 57511 | 18621 | OMIM:614576 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl; CDG2L | | | | 71 | | |
HP:0000104 | HP:0000122 | Unilateral renal agenesis | 1 | COPB2 CL E G H | 9276 | 2232 | ORPHA:2512 | Autosomal recessive primary microcephaly | HP:0040282 - Frequent | | | | | |
HP:0000104 | HP:0000122 | Unilateral renal agenesis | 1 | CTU2 CL E G H | 348180 | 28005 | OMIM:618142 | Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome | . | | | 1 | | |
HP:0000104 | HP:0000122 | Unilateral renal agenesis | 1 | DHCR7 CL E G H | 1717 | 2860 | OMIM:270400 | Smith-Lemli-Opitz syndrome | . | | | 159 | | |
HP:0000104 | HP:0000122 | Unilateral renal agenesis | 1 | DYRK1A CL E G H | 1859 | 3091 | ORPHA:268261 | DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion | HP:0040283 - Occasional | | | 134 | | |
HP:0000104 | HP:0000122 | Unilateral renal agenesis | 1 | DYRK1A CL E G H | 1859 | 3091 | ORPHA:464311 | Intellectual disability syndrome due to a DYRK1A point mutation | HP:0040284 - Very rare | | | 134 | | |
HP:0000104 | HP:0000122 | Unilateral renal agenesis | 1 | ELN CL E G H | 2006 | 3327 | ORPHA:90348 | Autosomal dominant cutis laxa | | | | 172 | | |
HP:0000104 | HP:0000122 | Unilateral renal agenesis | 1 | ERCC6 CL E G H | 2074 | 3438 | ORPHA:90324 | Cockayne syndrome type 3 | HP:0040284 - Very rare | | | 199 | | |
HP:0000104 | HP:0000122 | Unilateral renal agenesis | 1 | ERCC8 CL E G H | 1161 | 3439 | ORPHA:90324 | Cockayne syndrome type 3 | HP:0040284 - Very rare | | | 55 | | |
HP:0000104 | HP:0000122 | Unilateral renal agenesis | 1 | EYA1 CL E G H | 2138 | 3519 | OMIM:113650 | Branchiootorenal syndrome 1 | | | | 135 | | |
HP:0000104 | HP:0000122 | Unilateral renal agenesis | 1 | FANCL CL E G H | 55120 | 20748 | OMIM:614083 | Fanconi anemia, complementation group L | | | | 53 | | |
HP:0000104 | HP:0000122 | Unilateral renal agenesis | 1 | FBLN5 CL E G H | 10516 | 3602 | ORPHA:90348 | Autosomal dominant cutis laxa | | | | 63 | | |
HP:0000104 | HP:0000122 | Unilateral renal agenesis | 1 | FREM1 CL E G H | 158326 | 23399 | OMIM:608980 | Bifid nose with or without anorectal and renal anomalies | | | | 198 | | |
HP:0000104 | HP:0000122 | Unilateral renal agenesis | 1 | GATA3 CL E G H | 2625 | 4172 | ORPHA:2237 | Hypoparathyroidism-sensorineural deafness-renal disease syndrome | HP:0040282 - Frequent | | | 83 | | |
HP:0000104 | HP:0000122 | Unilateral renal agenesis | 1 | GDF6 CL E G H | 392255 | 4221 | OMIM:118100 | Klippel-Feil syndrome 1, autosomal dominant | | | | 64 | | |
HP:0000104 | HP:0010958 | Bilateral renal agenesis | 1 | GFRA1 CL E G H | 2674 | 4243 | OMIM:619887 | | | | | 1 | | |
HP:0000104 | HP:0000122 | Unilateral renal agenesis | 1 | GLI3 CL E G H | 2737 | 4319 | ORPHA:672 | Pallister-Hall syndrome | HP:0040283 - Occasional | | | 270 | | |
HP:0000104 | HP:0010958 | Bilateral renal agenesis | 1 | GLI3 CL E G H | 2737 | 4319 | ORPHA:672 | Pallister-Hall syndrome | HP:0040284 - Very rare | | | 270 | | |
HP:0000104 | HP:0000122 | Unilateral renal agenesis | 1 | GNB2 CL E G H | 2783 | 4398 | OMIM:619503 | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF | | | | | | |
HP:0000104 | HP:0000122 | Unilateral renal agenesis | 1 | H4C9 CL E G H | 8294 | 4793 | OMIM:619951 | | | | | | | |
HP:0000104 | HP:0000122 | Unilateral renal agenesis | 1 | HNF1B CL E G H | 6928 | 11630 | OMIM:137920 | Renal cysts and diabetes syndrome | | | | 90 | | |
HP:0000104 | HP:0000122 | Unilateral renal agenesis | 1 | HS2ST1 CL E G H | 9653 | 5193 | OMIM:619194 | NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS; NFSRA | | | | | | |
HP:0000104 | HP:0010958 | Bilateral renal agenesis | 1 | HS2ST1 CL E G H | 9653 | 5193 | OMIM:619194 | NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS; NFSRA | | | | | | |
HP:0000104 | HP:0000122 | Unilateral renal agenesis | 1 | IDH1 CL E G H | 3417 | 5382 | ORPHA:99646 | Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria | | | | 15 | | |
HP:0000104 | HP:0010958 | Bilateral renal agenesis | 1 | ITGA8 CL E G H | 8516 | 6144 | OMIM:191830 | Renal hypodysplasia/aplasia 1 | | | | 4 | | |
HP:0000104 | HP:0000122 | Unilateral renal agenesis | 1 | KIF14 CL E G H | 9928 | 19181 | ORPHA:2512 | Autosomal recessive primary microcephaly | HP:0040282 - Frequent | | | 9 | | |
HP:0000104 | HP:0000122 | Unilateral renal agenesis | 1 | KNL1 CL E G H | 57082 | 24054 | ORPHA:2512 | Autosomal recessive primary microcephaly | HP:0040282 - Frequent | | | 112 | | |
HP:0000104 | HP:0000122 | Unilateral renal agenesis | 1 | KNSTRN CL E G H | 90417 | 30767 | ORPHA:221139 | Combined immunodeficiency with faciooculoskeletal anomalies | HP:0040282 - Frequent | | | 1 | | |
HP:0000104 | HP:0000122 | Unilateral renal agenesis | 1 | KYNU CL E G H | 8942 | 6469 | OMIM:617661 | Vertebral, cardiac, renal, and limb defects syndrome 2 | | | | 5 | | |
HP:0000104 | HP:0000122 | Unilateral renal agenesis | 1 | LMBRD1 CL E G H | 55788 | 23038 | ORPHA:79284 | Methylmalonic acidemia with homocystinuria type cblF | HP:0040283 - Occasional | | | 46 | | |
HP:0000104 | HP:0000122 | Unilateral renal agenesis | 1 | MBTPS2 CL E G H | 51360 | 15455 | OMIM:308205 | Ifap syndrome with or without bresheck syndrome | . | | | 22 | | |
HP:0000104 | HP:0000122 | Unilateral renal agenesis | 1 | MCM7 CL E G H | 4176 | 6950 | ORPHA:2512 | Autosomal recessive primary microcephaly | HP:0040282 - Frequent | | | | | |
HP:0000104 | HP:0000122 | Unilateral renal agenesis | 1 | MCPH1 CL E G H | 79648 | 6954 | ORPHA:2512 | Autosomal recessive primary microcephaly | HP:0040282 - Frequent | | | 155 | | |
HP:0000104 | HP:0000122 | Unilateral renal agenesis | 1 | METTL5 CL E G H | 29081 | 25006 | ORPHA:2512 | Autosomal recessive primary microcephaly | HP:0040282 - Frequent | | | | | |
HP:0000104 | HP:0000122 | Unilateral renal agenesis | 1 | MFSD2A CL E G H | 84879 | 25897 | ORPHA:2512 | Autosomal recessive primary microcephaly | HP:0040282 - Frequent | | | 5 | | |
HP:0000104 | HP:0010958 | Bilateral renal agenesis | 1 | NADSYN1 CL E G H | 55191 | 29832 | OMIM:618845 | VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 3; VCRL3 | | | | | | |
HP:0000104 | HP:0000122 | Unilateral renal agenesis | 1 | NADSYN1 CL E G H | 55191 | 29832 | OMIM:618845 | VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 3; VCRL3 | | | | | | |
HP:0000104 | HP:0000122 | Unilateral renal agenesis | 1 | NCAPD3 CL E G H | 23310 | 28952 | ORPHA:2512 | Autosomal recessive primary microcephaly | HP:0040282 - Frequent | | | 1 | | |
HP:0000104 | HP:0000122 | Unilateral renal agenesis | 1 | NSDHL CL E G H | 50814 | 13398 | OMIM:308050 | Congenital hemidysplasia with ichthyosiform erythroderma and limb defects | | | | 34 | | |
HP:0000104 | HP:0000122 | Unilateral renal agenesis | 1 | PBX1 CL E G H | 5087 | 8632 | OMIM:617641 | Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay | | | | 3 | | |
HP:0000104 | HP:0000122 | Unilateral renal agenesis | 1 | PHC1 CL E G H | 1911 | 3182 | ORPHA:2512 | Autosomal recessive primary microcephaly | HP:0040282 - Frequent | | | 16 | | |
HP:0000104 | HP:0000122 | Unilateral renal agenesis | 1 | PIK3CD CL E G H | 5293 | 8977 | ORPHA:221139 | Combined immunodeficiency with faciooculoskeletal anomalies | HP:0040282 - Frequent | | | 9 | | |
HP:0000104 | HP:0000122 | Unilateral renal agenesis | 1 | POR CL E G H | 5447 | 9208 | ORPHA:95699 | Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency | HP:0040284 - Very rare | | | 76 | | |
HP:0000104 | HP:0000122 | Unilateral renal agenesis | 1 | PPFIBP1 CL E G H | 8496 | 9249 | OMIM:620024 | | | | | | | |
HP:0000104 | HP:0000122 | Unilateral renal agenesis | 1 | PPP2R1A CL E G H | 5518 | 9302 | OMIM:616362 | Mental retardation, autosomal dominant 36 | | | | 13 | | |
HP:0000104 | HP:0000122 | Unilateral renal agenesis | 1 | PPP2R1A CL E G H | 5518 | 9302 | ORPHA:457284 | Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome | HP:0040283 - Occasional | | | 13 | | |
HP:0000104 | HP:0000122 | Unilateral renal agenesis | 1 | PPP2R3C CL E G H | 55012 | 17485 | OMIM:618419 | Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy | HP:0040284 - Very rare | | | | | |
HP:0000104 | HP:0000122 | Unilateral renal agenesis | 1 | PRKAR1A CL E G H | 5573 | 9388 | OMIM:101800 | Acrodysostosis 1, with or without hormone resistance | | | | 134 | | |
HP:0000104 | HP:0000122 | Unilateral renal agenesis | 1 | PROKR2 CL E G H | 128674 | 15836 | OMIM:244200 | Hypogonadotropic hypogonadism 3 with or without anosmia | . | | | 34 | | |
HP:0000104 | HP:0000122 | Unilateral renal agenesis | 1 | PTPN11 CL E G H | 5781 | 9644 | OMIM:151100 | Leopard syndrome 1 | . | | | 291 | | |
HP:0000104 | HP:0000122 | Unilateral renal agenesis | 1 | PUF60 CL E G H | 22827 | 17042 | ORPHA:508488 | 8q24.3 microdeletion syndrome | HP:0040283 - Occasional | | | 19 | | |
HP:0000104 | HP:0000122 | Unilateral renal agenesis | 1 | PYCR2 CL E G H | 29920 | 30262 | ORPHA:2512 | Autosomal recessive primary microcephaly | HP:0040282 - Frequent | | | 11 | | |
HP:0000104 | HP:0000122 | Unilateral renal agenesis | 1 | RTTN CL E G H | 25914 | 18654 | ORPHA:468631 | Microcephalic cortical malformations-short stature due to RTTN deficiency | HP:0040283 - Occasional | | | 113 | | |
HP:0000104 | HP:0000122 | Unilateral renal agenesis | 1 | SASS6 CL E G H | 163786 | 25403 | ORPHA:2512 | Autosomal recessive primary microcephaly | HP:0040282 - Frequent | | | 4 | | |
HP:0000104 | HP:0000122 | Unilateral renal agenesis | 1 | SF3B4 CL E G H | 10262 | 10771 | OMIM:154400 | Acrofacial dysostosis 1, Nager type | . | | | 49 | | |
HP:0000104 | HP:0000122 | Unilateral renal agenesis | 1 | SF3B4 CL E G H | 10262 | 10771 | ORPHA:245 | Nager syndrome | HP:0040283 - Occasional | | | 49 | | |
HP:0000104 | HP:0000122 | Unilateral renal agenesis | 1 | SIX1 CL E G H | 6495 | 10887 | OMIM:113650 | Branchiootorenal syndrome 1 | | | | 50 | | |
HP:0000104 | HP:0000122 | Unilateral renal agenesis | 1 | SON CL E G H | 6651 | 11183 | ORPHA:500150 | Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome | HP:0040283 - Occasional | | | 12 | | |
HP:0000104 | HP:0000122 | Unilateral renal agenesis | 1 | SON CL E G H | 6651 | 11183 | OMIM:617140 | Zttk syndrome | | | | 12 | | |
HP:0000104 | HP:0000122 | Unilateral renal agenesis | 1 | STIL CL E G H | 6491 | 10879 | ORPHA:2512 | Autosomal recessive primary microcephaly | HP:0040282 - Frequent | | | 99 | | |
HP:0000104 | HP:0000122 | Unilateral renal agenesis | 1 | STS CL E G H | 412 | 11425 | ORPHA:281090 | Syndromic recessive X-linked ichthyosis | HP:0040283 - Occasional | | | 19 | | |
HP:0000104 | HP:0000122 | Unilateral renal agenesis | 1 | TAF13 CL E G H | 6884 | 11546 | ORPHA:2512 | Autosomal recessive primary microcephaly | HP:0040282 - Frequent | | | 2 | | |
HP:0000104 | HP:0000122 | Unilateral renal agenesis | 1 | TBX1 CL E G H | 6899 | 11592 | OMIM:188400 | Digeorge syndrome | . | | | 32 | | |
HP:0000104 | HP:0000122 | Unilateral renal agenesis | 1 | THOC6 CL E G H | 79228 | 28369 | OMIM:613680 | Beaulieu-Boycott-Innes syndrome | | | | 1 | | |
HP:0000104 | HP:0000122 | Unilateral renal agenesis | 1 | THOC6 CL E G H | 79228 | 28369 | ORPHA:363444 | THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0000104 | HP:0000122 | Unilateral renal agenesis | 1 | TMCO1 CL E G H | 54499 | 18188 | OMIM:213980 | Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome | | | | 6 | | |
HP:0000104 | HP:0000122 | Unilateral renal agenesis | 1 | TMEM67 CL E G H | 91147 | 28396 | OMIM:216360 | Coach syndrome 1 | | | | 166 | | |
HP:0000104 | HP:0000122 | Unilateral renal agenesis | 1 | TNXB CL E G H | 7148 | 11976 | OMIM:606408 | Ehlers-Danlos syndrome, classic-like | . | | | 134 | | |
HP:0000104 | HP:0000122 | Unilateral renal agenesis | 1 | TRAPPC10 CL E G H | 7109 | 11868 | ORPHA:2512 | Autosomal recessive primary microcephaly | HP:0040282 - Frequent | | | 1 | | |
HP:0000104 | HP:0000122 | Unilateral renal agenesis | 1 | TRAPPC14 CL E G H | 55262 | 25604 | ORPHA:2512 | Autosomal recessive primary microcephaly | HP:0040282 - Frequent | | | | | |
HP:0000104 | HP:0000122 | Unilateral renal agenesis | 1 | TXNL4A CL E G H | 10907 | 30551 | OMIM:608572 | Burn-Mckeown syndrome | | | | 19 | | |
HP:0000104 | HP:0000122 | Unilateral renal agenesis | 1 | WBP11 CL E G H | 51729 | 16461 | OMIM:619227 | VERTEBRAL, CARDIAC, TRACHEOESOPHAGEAL, RENAL, AND LIMB DEFECTS; VCTERL | | | | | | |
HP:0000104 | HP:0000122 | Unilateral renal agenesis | 1 | WDR62 CL E G H | 284403 | 24502 | ORPHA:2512 | Autosomal recessive primary microcephaly | HP:0040282 - Frequent | | | 224 | | |
HP:0000104 | HP:0000122 | Unilateral renal agenesis | 1 | WNT4 CL E G H | 54361 | 12783 | ORPHA:3109 | Mayer-Rokitansky-Küster-Hauser syndrome | HP:0040283 - Occasional | | | 4 | | |
HP:0000104 | HP:0000122 | Unilateral renal agenesis | 1 | WNT4 CL E G H | 54361 | 12783 | OMIM:158330 | Mullerian aplasia and hyperandrogenism | HP:0040283 - Occasional | | | 4 | | |
HP:0000104 | HP:0000122 | Unilateral renal agenesis | 1 | XRCC4 CL E G H | 7518 | 12831 | OMIM:616541 | Short stature, microcephaly, and endocrine dysfunction | | | | 9 | | |