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:0040202 | HP:0040202 | Abnormal consumption behavior | 0 | ABCC8 CL E G H | 6833 | 59 | ORPHA:276575 | Autosomal dominant hyperinsulinism due to SUR1 deficiency | | | | 245 | | |
HP:0040202 | HP:0040202 | Abnormal consumption behavior | 0 | ACAT1 CL E G H | 38 | 93 | ORPHA:134 | Beta-ketothiolase deficiency | | | | 91 | | |
HP:0040202 | HP:0040202 | Abnormal consumption behavior | 0 | ADCY3 CL E G H | 109 | 234 | OMIM:617885 | Body mass index quantitative trait locus 19 | | | | | | |
HP:0040202 | HP:0040202 | Abnormal consumption behavior | 0 | ADNP CL E G H | 23394 | 15766 | ORPHA:404448 | ADNP syndrome | | | | 47 | | |
HP:0040202 | HP:0040202 | Abnormal consumption behavior | 0 | AGPAT2 CL E G H | 10555 | 325 | OMIM:608594 | Lipodystrophy, congenital generalized, type 1 | | | | 85 | | |
HP:0040202 | HP:0040202 | Abnormal consumption behavior | 0 | AGRN CL E G H | 375790 | 329 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | | | | 127 | | |
HP:0040202 | HP:0040202 | Abnormal consumption behavior | 0 | ALMS1 CL E G H | 7840 | 428 | ORPHA:64 | Alström syndrome | | | | 404 | | |
HP:0040202 | HP:0040202 | Abnormal consumption behavior | 0 | AQP2 CL E G H | 359 | 634 | OMIM:125800 | Diabetes insipidus, nephrogenic, 2 | | | | 75 | | |
HP:0040202 | HP:0040202 | Abnormal consumption behavior | 0 | AQP2 CL E G H | 359 | 634 | ORPHA:223 | Nephrogenic diabetes insipidus | | | | 75 | | |
HP:0040202 | HP:0040202 | Abnormal consumption behavior | 0 | ARID1A CL E G H | 8289 | 11110 | ORPHA:1465 | Coffin-Siris syndrome | | | | 88 | | |
HP:0040202 | HP:0040202 | Abnormal consumption behavior | 0 | ARID1B CL E G H | 57492 | 18040 | ORPHA:1465 | Coffin-Siris syndrome | | | | 219 | | |
HP:0040202 | HP:0040202 | Abnormal consumption behavior | 0 | ARID2 CL E G H | 196528 | 18037 | ORPHA:1465 | Coffin-Siris syndrome | | | | 25 | | |
HP:0040202 | HP:0040202 | Abnormal consumption behavior | 0 | ARNT2 CL E G H | 9915 | 16876 | ORPHA:3157 | Septo-optic dysplasia spectrum | | | | | | |
HP:0040202 | HP:0040202 | Abnormal consumption behavior | 0 | ASH1L CL E G H | 55870 | 19088 | OMIM:617796 | Mental retardation, autosomal dominant 52 | | | | 1 | | |
HP:0040202 | HP:0040202 | Abnormal consumption behavior | 0 | ATP10A CL E G H | 57194 | 13542 | ORPHA:411515 | Angelman syndrome due to imprinting defect in 15q11-q13 | | | | 4 | | |
HP:0040202 | HP:0040202 | Abnormal consumption behavior | 0 | AVP CL E G H | 551 | 894 | ORPHA:30925 | Hereditary central diabetes insipidus | | | | 22 | | |
HP:0040202 | HP:0040202 | Abnormal consumption behavior | 0 | AVPR2 CL E G H | 554 | 897 | OMIM:304800 | Diabetes insipidus, nephrogenic, X-linked | | | | 67 | | |
HP:0040202 | HP:0040202 | Abnormal consumption behavior | 0 | AVPR2 CL E G H | 554 | 897 | ORPHA:223 | Nephrogenic diabetes insipidus | | | | 67 | | |
HP:0040202 | HP:0040202 | Abnormal consumption behavior | 0 | BBS9 CL E G H | 27241 | 30000 | OMIM:615986 | BARDET-BIEDL SYNDROME 9; BBS9 | | | | 119 | | |
HP:0040202 | HP:0040202 | Abnormal consumption behavior | 0 | BRAF CL E G H | 673 | 1097 | ORPHA:54595 | Craniopharyngioma | | | | 276 | | |
HP:0040202 | HP:0040202 | Abnormal consumption behavior | 0 | BSCL2 CL E G H | 26580 | 15832 | OMIM:269700 | Lipodystrophy, congenital generalized, type 2 | | | | 105 | | |
HP:0040202 | HP:0040202 | Abnormal consumption behavior | 0 | BSND CL E G H | 7809 | 16512 | OMIM:602522 | Bartter syndrome, type 4A, neonatal, with sensorineural deafness | | | | 53 | | |
HP:0040202 | HP:0040202 | Abnormal consumption behavior | 0 | CACNA1A CL E G H | 773 | 1388 | ORPHA:98758 | Spinocerebellar ataxia type 6 | | | | 449 | | |
HP:0040202 | HP:0040202 | Abnormal consumption behavior | 0 | CACNA1D CL E G H | 776 | 1391 | ORPHA:369929 | Primary hyperaldosteronism-seizures-neurological abnormalities syndrome | | | | 51 | | |
HP:0040202 | HP:0040202 | Abnormal consumption behavior | 0 | CASR CL E G H | 846 | 1514 | OMIM:239200 | Hyperparathyroidism, neonatal severe | | | | 272 | | |
HP:0040202 | HP:0040202 | Abnormal consumption behavior | 0 | CASZ1 CL E G H | 54897 | 26002 | ORPHA:1606 | 1p36 deletion syndrome | | | | 3 | | |
HP:0040202 | HP:0040202 | Abnormal consumption behavior | 0 | CDC73 CL E G H | 79577 | 16783 | ORPHA:99880 | Hyperparathyroidism-jaw tumor syndrome | | | | 169 | | |
HP:0040202 | HP:0040202 | Abnormal consumption behavior | 0 | CDC73 CL E G H | 79577 | 16783 | ORPHA:143 | Parathyroid carcinoma | | | | 169 | | |
HP:0040202 | HP:0040202 | Abnormal consumption behavior | 0 | CDK13 CL E G H | 8621 | 1733 | OMIM:617360 | Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder | | | | 8 | | |
HP:0040202 | HP:0040202 | Abnormal consumption behavior | 0 | CHAT CL E G H | 1103 | 1912 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | | | | 65 | | |
HP:0040202 | HP:0040202 | Abnormal consumption behavior | 0 | CHD8 CL E G H | 57680 | 20153 | OMIM:615032 | AUTISM, SUSCEPTIBILITY TO, 18; AUTS18 | | | | 72 | | |
HP:0040202 | HP:0040202 | Abnormal consumption behavior | 0 | CISD2 CL E G H | 493856 | 24212 | ORPHA:3463 | Wolfram syndrome | | | | 3 | | |
HP:0040202 | HP:0040202 | Abnormal consumption behavior | 0 | CLCNKB CL E G H | 1188 | 2027 | ORPHA:358 | Gitelman syndrome | | | | 27 | | |
HP:0040202 | HP:0040202 | Abnormal consumption behavior | 0 | CLDN10 CL E G H | 9071 | 2033 | OMIM:617671 | Helix syndrome | | | | 3 | | |
HP:0040202 | HP:0040202 | Abnormal consumption behavior | 0 | CLDN16 CL E G H | 10686 | 2037 | OMIM:248250 | Hypomagnesemia 3, renal | | | | 58 | | |
HP:0040202 | HP:0040202 | Abnormal consumption behavior | 0 | COL13A1 CL E G H | 1305 | 2190 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | | | | 6 | | |
HP:0040202 | HP:0040202 | Abnormal consumption behavior | 0 | CTNNB1 CL E G H | 1499 | 2514 | ORPHA:54595 | Craniopharyngioma | | | | 88 | | |
HP:0040202 | HP:0040202 | Abnormal consumption behavior | 0 | CTNS CL E G H | 1497 | 2518 | OMIM:219800 | Cystinosis, nephropathic | | | | 178 | | |
HP:0040202 | HP:0040202 | Abnormal consumption behavior | 0 | CTNS CL E G H | 1497 | 2518 | ORPHA:411629 | Infantile nephropathic cystinosis | | | | 178 | | |
HP:0040202 | HP:0040202 | Abnormal consumption behavior | 0 | CTNS CL E G H | 1497 | 2518 | ORPHA:411634 | Juvenile nephropathic cystinosis | | | | 178 | | |
HP:0040202 | HP:0040202 | Abnormal consumption behavior | 0 | CYP11B1 CL E G H | 1584 | 2591 | ORPHA:403 | Familial hyperaldosteronism type I | | | | 112 | | |
HP:0040202 | HP:0040202 | Abnormal consumption behavior | 0 | CYP11B2 CL E G H | 1585 | 2592 | ORPHA:403 | Familial hyperaldosteronism type I | | | | 73 | | |
HP:0040202 | HP:0040202 | Abnormal consumption behavior | 0 | DCDC2 CL E G H | 51473 | 18141 | ORPHA:84081 | Senior-Boichis syndrome | | | | 8 | | |
HP:0040202 | HP:0040202 | Abnormal consumption behavior | 0 | DHPS CL E G H | 1725 | 2869 | OMIM:618480 | Neurodevelopmental disorder with seizures and speech and walking impairment | | | | | | |
HP:0040202 | HP:0040202 | Abnormal consumption behavior | 0 | DPF2 CL E G H | 5977 | 9964 | ORPHA:1465 | Coffin-Siris syndrome | | | | | | |
HP:0040202 | HP:0040202 | Abnormal consumption behavior | 0 | DPYD CL E G H | 1806 | 3012 | ORPHA:293948 | 1p21.3 microdeletion syndrome | | | | 144 | | |
HP:0040202 | HP:0040202 | Abnormal consumption behavior | 0 | DZIP1L CL E G H | 199221 | 26551 | ORPHA:731 | Autosomal recessive polycystic kidney disease | | | | 4 | | |
HP:0040202 | HP:0040202 | Abnormal consumption behavior | 0 | ELP2 CL E G H | 55250 | 18248 | OMIM:617270 | Mental retardation, autosomal recessive 58 | | | | 6 | | |
HP:0040202 | HP:0040202 | Abnormal consumption behavior | 0 | EZH2 CL E G H | 2146 | 3527 | OMIM:277590 | Weaver syndrome | | | | 81 | | |
HP:0040202 | HP:0040202 | Abnormal consumption behavior | 0 | FGFR1 CL E G H | 2260 | 3688 | ORPHA:3157 | Septo-optic dysplasia spectrum | | | | 172 | | |
HP:0040202 | HP:0040202 | Abnormal consumption behavior | 0 | GABRD CL E G H | 2563 | 4084 | ORPHA:1606 | 1p36 deletion syndrome | | | | 10 | | |
HP:0040202 | HP:0040202 | Abnormal consumption behavior | 0 | GNAS CL E G H | 2778 | 4392 | ORPHA:79443 | Pseudohypoparathyroidism type 1A | | | | 101 | | |
HP:0040202 | HP:0040202 | Abnormal consumption behavior | 0 | GNAS CL E G H | 2778 | 4392 | ORPHA:79444 | Pseudohypoparathyroidism type 1C | | | | 101 | | |
HP:0040202 | HP:0040202 | Abnormal consumption behavior | 0 | GPR101 CL E G H | 83550 | 14963 | OMIM:300942 | Chromosome Xq26.3 duplication syndrome | | | | 5 | | |
HP:0040202 | HP:0040202 | Abnormal consumption behavior | 0 | GRB10 CL E G H | 2887 | 4564 | ORPHA:96182 | Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 | | | | | | |
HP:0040202 | HP:0040202 | Abnormal consumption behavior | 0 | GRN CL E G H | 2896 | 4601 | OMIM:607485 | Frontotemporal lobar degeneration with TDP43 inclusions | | | | 126 | | |
HP:0040202 | HP:0040202 | Abnormal consumption behavior | 0 | HERC2 CL E G H | 8924 | 4868 | OMIM:176270 | Prader-Willi syndrome | | | | 38 | | |
HP:0040202 | HP:0040202 | Abnormal consumption behavior | 0 | HESX1 CL E G H | 8820 | 4877 | ORPHA:3157 | Septo-optic dysplasia spectrum | | | | 21 | | |
HP:0040202 | HP:0040202 | Abnormal consumption behavior | 0 | HNF1A CL E G H | 6927 | 11621 | OMIM:222100 | Diabetes mellitus, insulin-dependent-1 | | | | 161 | | |
HP:0040202 | HP:0040202 | Abnormal consumption behavior | 0 | HNF1A CL E G H | 6927 | 11621 | ORPHA:324575 | Hyperinsulinism due to HNF1A deficiency | | | | 161 | | |
HP:0040202 | HP:0040202 | Abnormal consumption behavior | 0 | HNF1B CL E G H | 6928 | 11630 | ORPHA:93111 | HNF1B-related autosomal dominant tubulointerstitial kidney disease | | | | 90 | | |
HP:0040202 | HP:0040202 | Abnormal consumption behavior | 0 | HPSE2 CL E G H | 60495 | 18374 | ORPHA:2704 | Ochoa syndrome | | | | 9 | | |
HP:0040202 | HP:0040202 | Abnormal consumption behavior | 0 | HSD11B2 CL E G H | 3291 | 5209 | ORPHA:320 | Apparent mineralocorticoid excess | | | | 14 | | |
HP:0040202 | HP:0040202 | Abnormal consumption behavior | 0 | HSPG2 CL E G H | 3339 | 5273 | ORPHA:1606 | 1p36 deletion syndrome | | | | 345 | | |
HP:0040202 | HP:0040202 | Abnormal consumption behavior | 0 | HTT CL E G H | 3064 | 4851 | ORPHA:399 | Huntington disease | | | | 12 | | |
HP:0040202 | HP:0040202 | Abnormal consumption behavior | 0 | IFT74 CL E G H | 80173 | 21424 | OMIM:617119 | BARDET-BIEDL SYNDROME 20; BBS20 | | | | 3 | | |
HP:0040202 | HP:0040202 | Abnormal consumption behavior | 0 | IL6 CL E G H | 3569 | 6018 | OMIM:222100 | Diabetes mellitus, insulin-dependent-1 | | | | 2 | | |
HP:0040202 | HP:0040202 | Abnormal consumption behavior | 0 | INSR CL E G H | 3643 | 6091 | ORPHA:769 | Rabson-Mendenhall syndrome | | | | 229 | | |
HP:0040202 | HP:0040202 | Abnormal consumption behavior | 0 | IPW CL E G H | 3653 | 6109 | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0040202 | HP:0040202 | Abnormal consumption behavior | 0 | IRF4 CL E G H | 3662 | 6119 | ORPHA:3452 | Whipple disease | | | | 1 | | |
HP:0040202 | HP:0040202 | Abnormal consumption behavior | 0 | ITPR3 CL E G H | 3710 | 6182 | OMIM:222100 | Diabetes mellitus, insulin-dependent-1 | | | | | | |
HP:0040202 | HP:0040202 | Abnormal consumption behavior | 0 | KCNAB2 CL E G H | 8514 | 6229 | ORPHA:1606 | 1p36 deletion syndrome | | | | 1 | | |
HP:0040202 | HP:0040202 | Abnormal consumption behavior | 0 | KCNJ1 CL E G H | 3758 | 6255 | OMIM:241200 | Bartter syndrome, antenatal, type 2 | | | | 51 | | |
HP:0040202 | HP:0040202 | Abnormal consumption behavior | 0 | KCNJ10 CL E G H | 3766 | 6256 | ORPHA:199343 | EAST syndrome | | | | 121 | | |
HP:0040202 | HP:0040202 | Abnormal consumption behavior | 0 | KCNJ10 CL E G H | 3766 | 6256 | OMIM:612780 | Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance | | | | 121 | | |
HP:0040202 | HP:0040202 | Abnormal consumption behavior | 0 | KCNJ11 CL E G H | 3767 | 6257 | ORPHA:276580 | Autosomal dominant hyperinsulinism due to Kir6.2 deficiency | | | | 127 | | |
HP:0040202 | HP:0040202 | Abnormal consumption behavior | 0 | KCNJ5 CL E G H | 3762 | 6266 | ORPHA:251274 | Familial hyperaldosteronism type III | | | | 128 | | |
HP:0040202 | HP:0040202 | Abnormal consumption behavior | 0 | KCNJ5 CL E G H | 3762 | 6266 | OMIM:613677 | Hyperaldosteronism, familial, type III | | | | 128 | | |
HP:0040202 | HP:0040202 | Abnormal consumption behavior | 0 | LARP7 CL E G H | 51574 | 24912 | ORPHA:319671 | Alazami syndrome | | | | 16 | | |
HP:0040202 | HP:0040202 | Abnormal consumption behavior | 0 | LEP CL E G H | 3952 | 6553 | OMIM:614962 | Leptin deficiency or dysfunction | | | | 47 | | |
HP:0040202 | HP:0040202 | Abnormal consumption behavior | 0 | LEP CL E G H | 3952 | 6553 | ORPHA:66628 | Obesity due to congenital leptin deficiency | | | | 47 | | |
HP:0040202 | HP:0040202 | Abnormal consumption behavior | 0 | LEPR CL E G H | 3953 | 6554 | OMIM:614963 | Leptin receptor deficiency | | | | 46 | | |
HP:0040202 | HP:0040202 | Abnormal consumption behavior | 0 | LEPR CL E G H | 3953 | 6554 | ORPHA:179494 | Obesity due to leptin receptor gene deficiency | | | | 46 | | |
HP:0040202 | HP:0040202 | Abnormal consumption behavior | 0 | LRIG2 CL E G H | 9860 | 20889 | ORPHA:2704 | Ochoa syndrome | | | | 5 | | |
HP:0040202 | HP:0040202 | Abnormal consumption behavior | 0 | LUZP1 CL E G H | 7798 | 14985 | ORPHA:1606 | 1p36 deletion syndrome | | | | | | |
HP:0040202 | HP:0040202 | Abnormal consumption behavior | 0 | LZTFL1 CL E G H | 54585 | 6741 | OMIM:615994 | BARDET-BIEDL SYNDROME 17; BBS17 | | | | 4 | | |
HP:0040202 | HP:0040202 | Abnormal consumption behavior | 0 | MAGEL2 CL E G H | 54551 | 6814 | ORPHA:398069 | MAGEL2-related Prader-Willi-like syndrome | | | | 63 | | |
HP:0040202 | HP:0040202 | Abnormal consumption behavior | 0 | MAGEL2 CL E G H | 54551 | 6814 | OMIM:176270 | Prader-Willi syndrome | | | | 63 | | |
HP:0040202 | HP:0040202 | Abnormal consumption behavior | 0 | MAGEL2 CL E G H | 54551 | 6814 | ORPHA:177910 | Prader-Willi syndrome due to imprinting mutation | | | | 63 | | |
HP:0040202 | HP:0040202 | Abnormal consumption behavior | 0 | MAGEL2 CL E G H | 54551 | 6814 | ORPHA:98754 | Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 | | | | 63 | | |
HP:0040202 | HP:0040202 | Abnormal consumption behavior | 0 | MAGEL2 CL E G H | 54551 | 6814 | ORPHA:177901 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 | | | | 63 | | |
HP:0040202 | HP:0040202 | Abnormal consumption behavior | 0 | MAGEL2 CL E G H | 54551 | 6814 | ORPHA:177904 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 | | | | 63 | | |
HP:0040202 | HP:0040202 | Abnormal consumption behavior | 0 | MAGEL2 CL E G H | 54551 | 6814 | OMIM:615547 | Schaaf-Yang syndrome | | | | 63 | | |
HP:0040202 | HP:0040202 | Abnormal consumption behavior | 0 | MAN1B1 CL E G H | 11253 | 6823 | ORPHA:397941 | MAN1B1-CDG | | | | 93 | | |
HP:0040202 | HP:0040202 | Abnormal consumption behavior | 0 | MAPT CL E G H | 4137 | 6893 | OMIM:600274 | Frontotemporal dementia | | | | 140 | | |
HP:0040202 | HP:0040202 | Abnormal consumption behavior | 0 | MAPT CL E G H | 4137 | 6893 | OMIM:172700 | Pick disease of brain | | | | 140 | | |
HP:0040202 | HP:0040202 | Abnormal consumption behavior | 0 | MBD5 CL E G H | 55777 | 20444 | ORPHA:228402 | 2q23.1 microdeletion syndrome | | | | 252 | | |
HP:0040202 | HP:0040202 | Abnormal consumption behavior | 0 | MBD5 CL E G H | 55777 | 20444 | OMIM:156200 | Mental retardation, autosomal dominant 1 | | | | 252 | | |
HP:0040202 | HP:0040202 | Abnormal consumption behavior | 0 | MC4R CL E G H | 4160 | 6932 | OMIM:618406 | BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20; BMIQ20 | | | | 54 | | |
HP:0040202 | HP:0040202 | Abnormal consumption behavior | 0 | MC4R CL E G H | 4160 | 6932 | ORPHA:71529 | Obesity due to melanocortin 4 receptor deficiency | | | | 54 | | |
HP:0040202 | HP:0040202 | Abnormal consumption behavior | 0 | MEIS2 CL E G H | 4212 | 7001 | OMIM:600987 | Cleft palate, cardiac defects, and mental retardation | | | | 7 | | |
HP:0040202 | HP:0040202 | Abnormal consumption behavior | 0 | MEN1 CL E G H | 4221 | 7010 | ORPHA:97279 | Insulinoma | | | | 462 | | |
HP:0040202 | HP:0040202 | Abnormal consumption behavior | 0 | MKRN3 CL E G H | 7681 | 7114 | OMIM:176270 | Prader-Willi syndrome | | | | 5 | | |
HP:0040202 | HP:0040202 | Abnormal consumption behavior | 0 | MKRN3-AS1 CL E G H | 10108 | | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0040202 | HP:0040202 | Abnormal consumption behavior | 0 | MMP23B CL E G H | 8510 | 7171 | ORPHA:1606 | 1p36 deletion syndrome | | | | | | |
HP:0040202 | HP:0040202 | Abnormal consumption behavior | 0 | MN1 CL E G H | 4330 | 7180 | OMIM:618774 | CEBALID SYNDROME; CEBALID | | | | 1 | | |
HP:0040202 | HP:0040202 | Abnormal consumption behavior | 0 | MYO9A CL E G H | 4649 | 7608 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | | | | | | |
HP:0040202 | HP:0040202 | Abnormal consumption behavior | 0 | MYT1L CL E G H | 23040 | 7623 | OMIM:616521 | Mental retardation, autosomal dominant 39 | | | | 13 | | |
HP:0040202 | HP:0040202 | Abnormal consumption behavior | 0 | NDN CL E G H | 4692 | 7675 | ORPHA:177910 | Prader-Willi syndrome due to imprinting mutation | | | | | | |
HP:0040202 | HP:0040202 | Abnormal consumption behavior | 0 | NDN CL E G H | 4692 | 7675 | ORPHA:98754 | Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 | | | | | | |
HP:0040202 | HP:0040202 | Abnormal consumption behavior | 0 | NDN CL E G H | 4692 | 7675 | ORPHA:177901 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 | | | | | | |
HP:0040202 | HP:0040202 | Abnormal consumption behavior | 0 | NDN CL E G H | 4692 | 7675 | ORPHA:177904 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 | | | | | | |
HP:0040202 | HP:0040202 | Abnormal consumption behavior | 0 | NEXMIF CL E G H | 340533 | 29433 | OMIM:300912 | Mental retardation, X-linked 98 | | | | 52 | | |
HP:0040202 | HP:0040202 | Abnormal consumption behavior | 0 | NKX2-1 CL E G H | 7080 | 11825 | ORPHA:209905 | Brain-lung-thyroid syndrome | | | | 51 | | |
HP:0040202 | HP:0040202 | Abnormal consumption behavior | 0 | NLRP3 CL E G H | 114548 | 16400 | ORPHA:47045 | Familial cold urticaria | | | | 217 | | |
HP:0040202 | HP:0040202 | Abnormal consumption behavior | 0 | NPAP1 CL E G H | 23742 | 1190 | OMIM:176270 | Prader-Willi syndrome | | | | 1 | | |
HP:0040202 | HP:0040202 | Abnormal consumption behavior | 0 | NPHP1 CL E G H | 4867 | 7905 | OMIM:256100 | Nephronophthisis 1 | | | | 85 | | |
HP:0040202 | HP:0040202 | Abnormal consumption behavior | 0 | NPHP1 CL E G H | 4867 | 7905 | OMIM:266900 | Senior-Loken syndrome 1 | | | | 85 | | |
HP:0040202 | HP:0040202 | Abnormal consumption behavior | 0 | NPHP3 CL E G H | 27031 | 7907 | OMIM:604387 | Nephronophthisis 3 | | | | 157 | | |
HP:0040202 | HP:0040202 | Abnormal consumption behavior | 0 | NPHP4 CL E G H | 261734 | 19104 | OMIM:606966 | Nephronophthisis 4 | | | | 220 | | |
HP:0040202 | HP:0040202 | Abnormal consumption behavior | 0 | NPHP4 CL E G H | 261734 | 19104 | OMIM:606996 | Senior-Loken syndrome 4 | | | | 220 | | |
HP:0040202 | HP:0040202 | Abnormal consumption behavior | 0 | NTRK2 CL E G H | 4915 | 8032 | OMIM:613886 | Obesity, hyperphagia, and developmental delay | | | | 8 | | |
HP:0040202 | HP:0040202 | Abnormal consumption behavior | 0 | OCA2 CL E G H | 4948 | 8101 | ORPHA:98794 | Angelman syndrome due to maternal 15q11q13 deletion | | | | 121 | | |
HP:0040202 | HP:0040202 | Abnormal consumption behavior | 0 | OCA2 CL E G H | 4948 | 8101 | ORPHA:98754 | Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 | | | | 121 | | |
HP:0040202 | HP:0040202 | Abnormal consumption behavior | 0 | OCA2 CL E G H | 4948 | 8101 | ORPHA:177901 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 | | | | 121 | | |
HP:0040202 | HP:0040202 | Abnormal consumption behavior | 0 | OCA2 CL E G H | 4948 | 8101 | ORPHA:177904 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 | | | | 121 | | |
HP:0040202 | HP:0040202 | Abnormal consumption behavior | 0 | OTX2 CL E G H | 5015 | 8522 | ORPHA:3157 | Septo-optic dysplasia spectrum | | | | 41 | | |
HP:0040202 | HP:0040202 | Abnormal consumption behavior | 0 | PACS1 CL E G H | 55690 | 30032 | ORPHA:329224 | Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome | | | | 24 | | |
HP:0040202 | HP:0040202 | Abnormal consumption behavior | 0 | PCDH19 CL E G H | 57526 | 14270 | ORPHA:101039 | Female restricted epilepsy with intellectual disability | | | | 225 | | |
HP:0040202 | HP:0040202 | Abnormal consumption behavior | 0 | PCSK1 CL E G H | 5122 | 8743 | ORPHA:71528 | Obesity due to prohormone convertase I deficiency | | | | 65 | | |
HP:0040202 | HP:0040202 | Abnormal consumption behavior | 0 | PDPN CL E G H | 10630 | 29602 | ORPHA:1606 | 1p36 deletion syndrome | | | | | | |
HP:0040202 | HP:0040202 | Abnormal consumption behavior | 0 | PKHD1 CL E G H | 5314 | 9016 | ORPHA:731 | Autosomal recessive polycystic kidney disease | | | | 563 | | |
HP:0040202 | HP:0040202 | Abnormal consumption behavior | 0 | PLA2G6 CL E G H | 8398 | 9039 | ORPHA:35069 | Infantile neuroaxonal dystrophy | | | | 133 | | |
HP:0040202 | HP:0040202 | Abnormal consumption behavior | 0 | POMC CL E G H | 5443 | 9201 | ORPHA:71526 | Obesity due to pro-opiomelanocortin deficiency | | | | 27 | | |
HP:0040202 | HP:0040202 | Abnormal consumption behavior | 0 | POMC CL E G H | 5443 | 9201 | OMIM:609734 | Obesity, early-onset, with adrenal insufficiency and red hair | | | | 27 | | |
HP:0040202 | HP:0040202 | Abnormal consumption behavior | 0 | PRDM16 CL E G H | 63976 | 14000 | ORPHA:1606 | 1p36 deletion syndrome | | | | 148 | | |
HP:0040202 | HP:0040202 | Abnormal consumption behavior | 0 | PREPL CL E G H | 9581 | 30228 | ORPHA:163690 | Hypotonia-cystinuria syndrome | | | | 7 | | |
HP:0040202 | HP:0040202 | Abnormal consumption behavior | 0 | PRKCZ CL E G H | 5590 | 9412 | ORPHA:1606 | 1p36 deletion syndrome | | | | | | |
HP:0040202 | HP:0040202 | Abnormal consumption behavior | 0 | PROKR2 CL E G H | 128674 | 15836 | ORPHA:3157 | Septo-optic dysplasia spectrum | | | | 34 | | |
HP:0040202 | HP:0040202 | Abnormal consumption behavior | 0 | PSEN1 CL E G H | 5663 | 9508 | OMIM:600274 | Frontotemporal dementia | | | | 241 | | |
HP:0040202 | HP:0040202 | Abnormal consumption behavior | 0 | PSEN1 CL E G H | 5663 | 9508 | OMIM:172700 | Pick disease of brain | | | | 241 | | |
HP:0040202 | HP:0040202 | Abnormal consumption behavior | 0 | PTPN22 CL E G H | 26191 | 9652 | OMIM:222100 | Diabetes mellitus, insulin-dependent-1 | | | | 3 | | |
HP:0040202 | HP:0040202 | Abnormal consumption behavior | 0 | PWAR1 CL E G H | 145624 | 30089 | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0040202 | HP:0040202 | Abnormal consumption behavior | 0 | PWRN1 CL E G H | 791114 | 33235 | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0040202 | HP:0040202 | Abnormal consumption behavior | 0 | RERE CL E G H | 473 | 9965 | ORPHA:1606 | 1p36 deletion syndrome | | | | 16 | | |
HP:0040202 | HP:0040202 | Abnormal consumption behavior | 0 | SATB2 CL E G H | 23314 | 21637 | ORPHA:251028 | SATB2-associated syndrome due to a chromosomal rearrangement | | | | 34 | | |
HP:0040202 | HP:0040202 | Abnormal consumption behavior | 0 | SCN4A CL E G H | 6329 | 10591 | ORPHA:99734 | Myotonia fluctuans | | | | 263 | | |
HP:0040202 | HP:0040202 | Abnormal consumption behavior | 0 | SETD2 CL E G H | 29072 | 18420 | OMIM:616831 | Luscan-Lumish syndrome | | | | 60 | | |
HP:0040202 | HP:0040202 | Abnormal consumption behavior | 0 | SH2B1 CL E G H | 25970 | 30417 | ORPHA:329249 | Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency | | | | | | |
HP:0040202 | HP:0040202 | Abnormal consumption behavior | 0 | SIM1 CL E G H | 6492 | 10882 | ORPHA:171829 | 6q16 microdeletion syndrome | | | | 40 | | |
HP:0040202 | HP:0040202 | Abnormal consumption behavior | 0 | SIM1 CL E G H | 6492 | 10882 | ORPHA:369873 | Obesity due to SIM1 deficiency | | | | 40 | | |
HP:0040202 | HP:0040202 | Abnormal consumption behavior | 0 | SIM1 CL E G H | 6492 | 10882 | ORPHA:398079 | SIM1-related Prader-Willi-like syndrome | | | | 40 | | |
HP:0040202 | HP:0040202 | Abnormal consumption behavior | 0 | SKI CL E G H | 6497 | 10896 | ORPHA:1606 | 1p36 deletion syndrome | | | | 150 | | |
HP:0040202 | HP:0040202 | Abnormal consumption behavior | 0 | SLC12A3 CL E G H | 6559 | 10912 | OMIM:263800 | Gitelman syndrome | | | | 145 | | |
HP:0040202 | HP:0040202 | Abnormal consumption behavior | 0 | SLC12A3 CL E G H | 6559 | 10912 | ORPHA:358 | Gitelman syndrome | | | | 145 | | |
HP:0040202 | HP:0040202 | Abnormal consumption behavior | 0 | SLC18A3 CL E G H | 6572 | 10936 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | | | | 2 | | |
HP:0040202 | HP:0040202 | Abnormal consumption behavior | 0 | SLC25A1 CL E G H | 6576 | 10979 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | | | | 28 | | |
HP:0040202 | HP:0040202 | Abnormal consumption behavior | 0 | SLC25A13 CL E G H | 10165 | 10983 | ORPHA:247585 | Citrullinemia type II | | | | 82 | | |
HP:0040202 | HP:0040202 | Abnormal consumption behavior | 0 | SLC2A3 CL E G H | 6515 | 11007 | ORPHA:399 | Huntington disease | | | | 1 | | |
HP:0040202 | HP:0040202 | Abnormal consumption behavior | 0 | SLC3A1 CL E G H | 6519 | 11025 | ORPHA:163690 | Hypotonia-cystinuria syndrome | | | | 55 | | |
HP:0040202 | HP:0040202 | Abnormal consumption behavior | 0 | SLC41A1 CL E G H | 254428 | 19429 | OMIM:619468 | NEPHRONOPHTHISIS-LIKE NEPHROPATHY 2; NPHPL2 | | | | | | |
HP:0040202 | HP:0040202 | Abnormal consumption behavior | 0 | SLC5A2 CL E G H | 6524 | 11037 | OMIM:233100 | Renal glucosuria | | | | 41 | | |
HP:0040202 | HP:0040202 | Abnormal consumption behavior | 0 | SLC5A7 CL E G H | 60482 | 14025 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | | | | 9 | | |
HP:0040202 | HP:0040202 | Abnormal consumption behavior | 0 | SLC7A7 CL E G H | 9056 | 11065 | ORPHA:470 | Lysinuric protein intolerance | | | | 104 | | |
HP:0040202 | HP:0040202 | Abnormal consumption behavior | 0 | SMARCA4 CL E G H | 6597 | 11100 | ORPHA:1465 | Coffin-Siris syndrome | | | | 617 | | |
HP:0040202 | HP:0040202 | Abnormal consumption behavior | 0 | SMARCB1 CL E G H | 6598 | 11103 | ORPHA:1465 | Coffin-Siris syndrome | | | | 87 | | |
HP:0040202 | HP:0040202 | Abnormal consumption behavior | 0 | SMARCC2 CL E G H | 6601 | 11105 | ORPHA:1465 | Coffin-Siris syndrome | | | | 1 | | |
HP:0040202 | HP:0040202 | Abnormal consumption behavior | 0 | SMARCD1 CL E G H | 6602 | 11106 | ORPHA:1465 | Coffin-Siris syndrome | | | | | | |
HP:0040202 | HP:0040202 | Abnormal consumption behavior | 0 | SMARCE1 CL E G H | 6605 | 11109 | ORPHA:1465 | Coffin-Siris syndrome | | | | 47 | | |
HP:0040202 | HP:0040202 | Abnormal consumption behavior | 0 | SNAP25 CL E G H | 6616 | 11132 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | | | | 2 | | |
HP:0040202 | HP:0040202 | Abnormal consumption behavior | 0 | SNORD115-1 CL E G H | 338433 | 33020 | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0040202 | HP:0040202 | Abnormal consumption behavior | 0 | SNORD116-1 CL E G H | 100033413 | 33067 | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0040202 | HP:0040202 | Abnormal consumption behavior | 0 | SNRPN CL E G H | 6638 | 11164 | ORPHA:411515 | Angelman syndrome due to imprinting defect in 15q11-q13 | | | | 37 | | |
HP:0040202 | HP:0040202 | Abnormal consumption behavior | 0 | SNRPN CL E G H | 6638 | 11164 | ORPHA:177910 | Prader-Willi syndrome due to imprinting mutation | | | | 37 | | |
HP:0040202 | HP:0040202 | Abnormal consumption behavior | 0 | SNRPN CL E G H | 6638 | 11164 | ORPHA:98754 | Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 | | | | 37 | | |
HP:0040202 | HP:0040202 | Abnormal consumption behavior | 0 | SNRPN CL E G H | 6638 | 11164 | ORPHA:177901 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 | | | | 37 | | |
HP:0040202 | HP:0040202 | Abnormal consumption behavior | 0 | SNRPN CL E G H | 6638 | 11164 | ORPHA:177904 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 | | | | 37 | | |
HP:0040202 | HP:0040202 | Abnormal consumption behavior | 0 | SOX11 CL E G H | 6664 | 11191 | ORPHA:1465 | Coffin-Siris syndrome | | | | 14 | | |
HP:0040202 | HP:0040202 | Abnormal consumption behavior | 0 | SOX2 CL E G H | 6657 | 11195 | ORPHA:3157 | Septo-optic dysplasia spectrum | | | | 33 | | |
HP:0040202 | HP:0040202 | Abnormal consumption behavior | 0 | SOX3 CL E G H | 6658 | 11199 | ORPHA:3157 | Septo-optic dysplasia spectrum | | | | 24 | | |
HP:0040202 | HP:0040202 | Abnormal consumption behavior | 0 | SOX4 CL E G H | 6659 | 11200 | ORPHA:1465 | Coffin-Siris syndrome | | | | | | |
HP:0040202 | HP:0040202 | Abnormal consumption behavior | 0 | SPEN CL E G H | 23013 | 17575 | ORPHA:1606 | 1p36 deletion syndrome | | | | 4 | | |
HP:0040202 | HP:0040202 | Abnormal consumption behavior | 0 | SYNGAP1 CL E G H | 8831 | 11497 | ORPHA:544254 | SYNGAP1-related developmental and epileptic encephalopathy | | | | 108 | | |
HP:0040202 | HP:0040202 | Abnormal consumption behavior | 0 | SYT2 CL E G H | 127833 | 11510 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | | | | 4 | | |
HP:0040202 | HP:0040202 | Abnormal consumption behavior | 0 | TMEM67 CL E G H | 91147 | 28396 | OMIM:613550 | NEPHRONOPHTHISIS 11; NPHP11 | | | | 166 | | |
HP:0040202 | HP:0040202 | Abnormal consumption behavior | 0 | TMEM67 CL E G H | 91147 | 28396 | ORPHA:84081 | Senior-Boichis syndrome | | | | 166 | | |
HP:0040202 | HP:0040202 | Abnormal consumption behavior | 0 | UBE3A CL E G H | 7337 | 12496 | ORPHA:411511 | Angelman syndrome due to a point mutation | | | | 278 | | |
HP:0040202 | HP:0040202 | Abnormal consumption behavior | 0 | UBE3A CL E G H | 7337 | 12496 | ORPHA:411515 | Angelman syndrome due to imprinting defect in 15q11-q13 | | | | 278 | | |
HP:0040202 | HP:0040202 | Abnormal consumption behavior | 0 | UBE3A CL E G H | 7337 | 12496 | ORPHA:98794 | Angelman syndrome due to maternal 15q11q13 deletion | | | | 278 | | |
HP:0040202 | HP:0040202 | Abnormal consumption behavior | 0 | UBE4B CL E G H | 10277 | 12500 | ORPHA:1606 | 1p36 deletion syndrome | | | | | | |
HP:0040202 | HP:0040202 | Abnormal consumption behavior | 0 | UCP2 CL E G H | 7351 | 12518 | ORPHA:276556 | Hyperinsulinism due to UCP2 deficiency | | | | 15 | | |
HP:0040202 | HP:0040202 | Abnormal consumption behavior | 0 | VAMP1 CL E G H | 6843 | 12642 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | | | | 2 | | |
HP:0040202 | HP:0040202 | Abnormal consumption behavior | 0 | WFS1 CL E G H | 7466 | 12762 | ORPHA:3463 | Wolfram syndrome | | | | 389 | | |
HP:0040202 | HP:0040202 | Abnormal consumption behavior | 0 | YY1 CL E G H | 7528 | 12856 | ORPHA:97279 | Insulinoma | | | | 7 | | |
HP:0040202 | HP:0040202 | Abnormal consumption behavior | 0 | ZNF699 CL E G H | 374879 | 24750 | OMIM:619488 | DEGCAGS SYNDROME; DEGCAGS | | | | | | |
HP:0040202 | HP:0100738 | Abnormal eating behavior | 1 | ABCC8 CL E G H | 6833 | 59 | ORPHA:276575 | Autosomal dominant hyperinsulinism due to SUR1 deficiency | | | | 245 | | |
HP:0040202 | HP:0100738 | Abnormal eating behavior | 1 | ACAT1 CL E G H | 38 | 93 | ORPHA:134 | Beta-ketothiolase deficiency | | | | 91 | | |
HP:0040202 | HP:0100738 | Abnormal eating behavior | 1 | ADCY3 CL E G H | 109 | 234 | OMIM:617885 | Body mass index quantitative trait locus 19 | | | | | | |
HP:0040202 | HP:0100738 | Abnormal eating behavior | 1 | ADNP CL E G H | 23394 | 15766 | ORPHA:404448 | ADNP syndrome | | | | 47 | | |
HP:0040202 | HP:0100738 | Abnormal eating behavior | 1 | AGPAT2 CL E G H | 10555 | 325 | OMIM:608594 | Lipodystrophy, congenital generalized, type 1 | | | | 85 | | |
HP:0040202 | HP:0100738 | Abnormal eating behavior | 1 | AGRN CL E G H | 375790 | 329 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | | | | 127 | | |
HP:0040202 | HP:0100738 | Abnormal eating behavior | 1 | ALMS1 CL E G H | 7840 | 428 | ORPHA:64 | Alström syndrome | | | | 404 | | |
HP:0040202 | HP:0030082 | Abnormal drinking behavior | 1 | AQP2 CL E G H | 359 | 634 | OMIM:125800 | Diabetes insipidus, nephrogenic, 2 | | | | 75 | | |
HP:0040202 | HP:0030082 | Abnormal drinking behavior | 1 | AQP2 CL E G H | 359 | 634 | ORPHA:223 | Nephrogenic diabetes insipidus | | | | 75 | | |
HP:0040202 | HP:0100738 | Abnormal eating behavior | 1 | ARID1A CL E G H | 8289 | 11110 | ORPHA:1465 | Coffin-Siris syndrome | | | | 88 | | |
HP:0040202 | HP:0100738 | Abnormal eating behavior | 1 | ARID1B CL E G H | 57492 | 18040 | ORPHA:1465 | Coffin-Siris syndrome | | | | 219 | | |
HP:0040202 | HP:0100738 | Abnormal eating behavior | 1 | ARID2 CL E G H | 196528 | 18037 | ORPHA:1465 | Coffin-Siris syndrome | | | | 25 | | |
HP:0040202 | HP:0030082 | Abnormal drinking behavior | 1 | ARNT2 CL E G H | 9915 | 16876 | ORPHA:3157 | Septo-optic dysplasia spectrum | | | | | | |
HP:0040202 | HP:0100738 | Abnormal eating behavior | 1 | ASH1L CL E G H | 55870 | 19088 | OMIM:617796 | Mental retardation, autosomal dominant 52 | | | | 1 | | |
HP:0040202 | HP:0100738 | Abnormal eating behavior | 1 | ATP10A CL E G H | 57194 | 13542 | ORPHA:411515 | Angelman syndrome due to imprinting defect in 15q11-q13 | | | | 4 | | |
HP:0040202 | HP:0030082 | Abnormal drinking behavior | 1 | AVP CL E G H | 551 | 894 | ORPHA:30925 | Hereditary central diabetes insipidus | | | | 22 | | |
HP:0040202 | HP:0030082 | Abnormal drinking behavior | 1 | AVPR2 CL E G H | 554 | 897 | OMIM:304800 | Diabetes insipidus, nephrogenic, X-linked | | | | 67 | | |
HP:0040202 | HP:0030082 | Abnormal drinking behavior | 1 | AVPR2 CL E G H | 554 | 897 | ORPHA:223 | Nephrogenic diabetes insipidus | | | | 67 | | |
HP:0040202 | HP:0100738 | Abnormal eating behavior | 1 | BBS9 CL E G H | 27241 | 30000 | OMIM:615986 | BARDET-BIEDL SYNDROME 9; BBS9 | | | | 119 | | |
HP:0040202 | HP:0030082 | Abnormal drinking behavior | 1 | BBS9 CL E G H | 27241 | 30000 | OMIM:615986 | BARDET-BIEDL SYNDROME 9; BBS9 | | | | 119 | | |
HP:0040202 | HP:0100738 | Abnormal eating behavior | 1 | BRAF CL E G H | 673 | 1097 | ORPHA:54595 | Craniopharyngioma | | | | 276 | | |
HP:0040202 | HP:0100738 | Abnormal eating behavior | 1 | BSCL2 CL E G H | 26580 | 15832 | OMIM:269700 | Lipodystrophy, congenital generalized, type 2 | | | | 105 | | |
HP:0040202 | HP:0030082 | Abnormal drinking behavior | 1 | BSND CL E G H | 7809 | 16512 | OMIM:602522 | Bartter syndrome, type 4A, neonatal, with sensorineural deafness | | | | 53 | | |
HP:0040202 | HP:0100738 | Abnormal eating behavior | 1 | CACNA1A CL E G H | 773 | 1388 | ORPHA:98758 | Spinocerebellar ataxia type 6 | | | | 449 | | |
HP:0040202 | HP:0030082 | Abnormal drinking behavior | 1 | CACNA1D CL E G H | 776 | 1391 | ORPHA:369929 | Primary hyperaldosteronism-seizures-neurological abnormalities syndrome | | | | 51 | | |
HP:0040202 | HP:0030082 | Abnormal drinking behavior | 1 | CASR CL E G H | 846 | 1514 | OMIM:239200 | Hyperparathyroidism, neonatal severe | | | | 272 | | |
HP:0040202 | HP:0100738 | Abnormal eating behavior | 1 | CASZ1 CL E G H | 54897 | 26002 | ORPHA:1606 | 1p36 deletion syndrome | | | | 3 | | |
HP:0040202 | HP:0030082 | Abnormal drinking behavior | 1 | CDC73 CL E G H | 79577 | 16783 | ORPHA:99880 | Hyperparathyroidism-jaw tumor syndrome | | | | 169 | | |
HP:0040202 | HP:0030082 | Abnormal drinking behavior | 1 | CDC73 CL E G H | 79577 | 16783 | ORPHA:143 | Parathyroid carcinoma | | | | 169 | | |
HP:0040202 | HP:0100738 | Abnormal eating behavior | 1 | CDK13 CL E G H | 8621 | 1733 | OMIM:617360 | Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder | | | | 8 | | |
HP:0040202 | HP:0100738 | Abnormal eating behavior | 1 | CHAT CL E G H | 1103 | 1912 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | | | | 65 | | |
HP:0040202 | HP:0100738 | Abnormal eating behavior | 1 | CHD8 CL E G H | 57680 | 20153 | OMIM:615032 | AUTISM, SUSCEPTIBILITY TO, 18; AUTS18 | | | | 72 | | |
HP:0040202 | HP:0030082 | Abnormal drinking behavior | 1 | CISD2 CL E G H | 493856 | 24212 | ORPHA:3463 | Wolfram syndrome | | | | 3 | | |
HP:0040202 | HP:0100738 | Abnormal eating behavior | 1 | CLCNKB CL E G H | 1188 | 2027 | ORPHA:358 | Gitelman syndrome | | | | 27 | | |
HP:0040202 | HP:0030082 | Abnormal drinking behavior | 1 | CLCNKB CL E G H | 1188 | 2027 | ORPHA:358 | Gitelman syndrome | | | | 27 | | |
HP:0040202 | HP:0030082 | Abnormal drinking behavior | 1 | CLDN10 CL E G H | 9071 | 2033 | OMIM:617671 | Helix syndrome | | | | 3 | | |
HP:0040202 | HP:0030082 | Abnormal drinking behavior | 1 | CLDN16 CL E G H | 10686 | 2037 | OMIM:248250 | Hypomagnesemia 3, renal | | | | 58 | | |
HP:0040202 | HP:0100738 | Abnormal eating behavior | 1 | COL13A1 CL E G H | 1305 | 2190 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | | | | 6 | | |
HP:0040202 | HP:0100738 | Abnormal eating behavior | 1 | CTNNB1 CL E G H | 1499 | 2514 | ORPHA:54595 | Craniopharyngioma | | | | 88 | | |
HP:0040202 | HP:0030082 | Abnormal drinking behavior | 1 | CTNS CL E G H | 1497 | 2518 | OMIM:219800 | Cystinosis, nephropathic | | | | 178 | | |
HP:0040202 | HP:0030082 | Abnormal drinking behavior | 1 | CTNS CL E G H | 1497 | 2518 | ORPHA:411629 | Infantile nephropathic cystinosis | | | | 178 | | |
HP:0040202 | HP:0030082 | Abnormal drinking behavior | 1 | CTNS CL E G H | 1497 | 2518 | ORPHA:411634 | Juvenile nephropathic cystinosis | | | | 178 | | |
HP:0040202 | HP:0030082 | Abnormal drinking behavior | 1 | CYP11B1 CL E G H | 1584 | 2591 | ORPHA:403 | Familial hyperaldosteronism type I | | | | 112 | | |
HP:0040202 | HP:0030082 | Abnormal drinking behavior | 1 | CYP11B2 CL E G H | 1585 | 2592 | ORPHA:403 | Familial hyperaldosteronism type I | | | | 73 | | |
HP:0040202 | HP:0030082 | Abnormal drinking behavior | 1 | DCDC2 CL E G H | 51473 | 18141 | ORPHA:84081 | Senior-Boichis syndrome | | | | 8 | | |
HP:0040202 | HP:0100738 | Abnormal eating behavior | 1 | DHPS CL E G H | 1725 | 2869 | OMIM:618480 | Neurodevelopmental disorder with seizures and speech and walking impairment | | | | | | |
HP:0040202 | HP:0100738 | Abnormal eating behavior | 1 | DPF2 CL E G H | 5977 | 9964 | ORPHA:1465 | Coffin-Siris syndrome | | | | | | |
HP:0040202 | HP:0100738 | Abnormal eating behavior | 1 | DPYD CL E G H | 1806 | 3012 | ORPHA:293948 | 1p21.3 microdeletion syndrome | HP:0040281 - Very frequent | | | 144 | | |
HP:0040202 | HP:0030082 | Abnormal drinking behavior | 1 | DZIP1L CL E G H | 199221 | 26551 | ORPHA:731 | Autosomal recessive polycystic kidney disease | | | | 4 | | |
HP:0040202 | HP:0100738 | Abnormal eating behavior | 1 | ELP2 CL E G H | 55250 | 18248 | OMIM:617270 | Mental retardation, autosomal recessive 58 | | | | 6 | | |
HP:0040202 | HP:0100738 | Abnormal eating behavior | 1 | EZH2 CL E G H | 2146 | 3527 | OMIM:277590 | Weaver syndrome | | | | 81 | | |
HP:0040202 | HP:0030082 | Abnormal drinking behavior | 1 | FGFR1 CL E G H | 2260 | 3688 | ORPHA:3157 | Septo-optic dysplasia spectrum | | | | 172 | | |
HP:0040202 | HP:0100738 | Abnormal eating behavior | 1 | GABRD CL E G H | 2563 | 4084 | ORPHA:1606 | 1p36 deletion syndrome | | | | 10 | | |
HP:0040202 | HP:0100738 | Abnormal eating behavior | 1 | GNAS CL E G H | 2778 | 4392 | ORPHA:79443 | Pseudohypoparathyroidism type 1A | | | | 101 | | |
HP:0040202 | HP:0100738 | Abnormal eating behavior | 1 | GNAS CL E G H | 2778 | 4392 | ORPHA:79444 | Pseudohypoparathyroidism type 1C | | | | 101 | | |
HP:0040202 | HP:0100738 | Abnormal eating behavior | 1 | GPR101 CL E G H | 83550 | 14963 | OMIM:300942 | Chromosome Xq26.3 duplication syndrome | | | | 5 | | |
HP:0040202 | HP:0100738 | Abnormal eating behavior | 1 | GRB10 CL E G H | 2887 | 4564 | ORPHA:96182 | Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 | | | | | | |
HP:0040202 | HP:0100738 | Abnormal eating behavior | 1 | GRN CL E G H | 2896 | 4601 | OMIM:607485 | Frontotemporal lobar degeneration with TDP43 inclusions | | | | 126 | | |
HP:0040202 | HP:0100738 | Abnormal eating behavior | 1 | HERC2 CL E G H | 8924 | 4868 | OMIM:176270 | Prader-Willi syndrome | | | | 38 | | |
HP:0040202 | HP:0030082 | Abnormal drinking behavior | 1 | HESX1 CL E G H | 8820 | 4877 | ORPHA:3157 | Septo-optic dysplasia spectrum | | | | 21 | | |
HP:0040202 | HP:0100738 | Abnormal eating behavior | 1 | HNF1A CL E G H | 6927 | 11621 | OMIM:222100 | Diabetes mellitus, insulin-dependent-1 | | | | 161 | | |
HP:0040202 | HP:0030082 | Abnormal drinking behavior | 1 | HNF1A CL E G H | 6927 | 11621 | OMIM:222100 | Diabetes mellitus, insulin-dependent-1 | | | | 161 | | |
HP:0040202 | HP:0100738 | Abnormal eating behavior | 1 | HNF1A CL E G H | 6927 | 11621 | ORPHA:324575 | Hyperinsulinism due to HNF1A deficiency | | | | 161 | | |
HP:0040202 | HP:0030082 | Abnormal drinking behavior | 1 | HNF1B CL E G H | 6928 | 11630 | ORPHA:93111 | HNF1B-related autosomal dominant tubulointerstitial kidney disease | | | | 90 | | |
HP:0040202 | HP:0030082 | Abnormal drinking behavior | 1 | HPSE2 CL E G H | 60495 | 18374 | ORPHA:2704 | Ochoa syndrome | | | | 9 | | |
HP:0040202 | HP:0030082 | Abnormal drinking behavior | 1 | HSD11B2 CL E G H | 3291 | 5209 | ORPHA:320 | Apparent mineralocorticoid excess | | | | 14 | | |
HP:0040202 | HP:0100738 | Abnormal eating behavior | 1 | HSPG2 CL E G H | 3339 | 5273 | ORPHA:1606 | 1p36 deletion syndrome | | | | 345 | | |
HP:0040202 | HP:0100738 | Abnormal eating behavior | 1 | HTT CL E G H | 3064 | 4851 | ORPHA:399 | Huntington disease | | | | 12 | | |
HP:0040202 | HP:0100738 | Abnormal eating behavior | 1 | IFT74 CL E G H | 80173 | 21424 | OMIM:617119 | BARDET-BIEDL SYNDROME 20; BBS20 | | | | 3 | | |
HP:0040202 | HP:0030082 | Abnormal drinking behavior | 1 | IL6 CL E G H | 3569 | 6018 | OMIM:222100 | Diabetes mellitus, insulin-dependent-1 | | | | 2 | | |
HP:0040202 | HP:0100738 | Abnormal eating behavior | 1 | IL6 CL E G H | 3569 | 6018 | OMIM:222100 | Diabetes mellitus, insulin-dependent-1 | | | | 2 | | |
HP:0040202 | HP:0030082 | Abnormal drinking behavior | 1 | INSR CL E G H | 3643 | 6091 | ORPHA:769 | Rabson-Mendenhall syndrome | | | | 229 | | |
HP:0040202 | HP:0100738 | Abnormal eating behavior | 1 | IPW CL E G H | 3653 | 6109 | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0040202 | HP:0030082 | Abnormal drinking behavior | 1 | IRF4 CL E G H | 3662 | 6119 | ORPHA:3452 | Whipple disease | | | | 1 | | |
HP:0040202 | HP:0030082 | Abnormal drinking behavior | 1 | ITPR3 CL E G H | 3710 | 6182 | OMIM:222100 | Diabetes mellitus, insulin-dependent-1 | | | | | | |
HP:0040202 | HP:0100738 | Abnormal eating behavior | 1 | ITPR3 CL E G H | 3710 | 6182 | OMIM:222100 | Diabetes mellitus, insulin-dependent-1 | | | | | | |
HP:0040202 | HP:0100738 | Abnormal eating behavior | 1 | KCNAB2 CL E G H | 8514 | 6229 | ORPHA:1606 | 1p36 deletion syndrome | | | | 1 | | |
HP:0040202 | HP:0030082 | Abnormal drinking behavior | 1 | KCNJ1 CL E G H | 3758 | 6255 | OMIM:241200 | Bartter syndrome, antenatal, type 2 | | | | 51 | | |
HP:0040202 | HP:0030082 | Abnormal drinking behavior | 1 | KCNJ10 CL E G H | 3766 | 6256 | ORPHA:199343 | EAST syndrome | | | | 121 | | |
HP:0040202 | HP:0100738 | Abnormal eating behavior | 1 | KCNJ10 CL E G H | 3766 | 6256 | ORPHA:199343 | EAST syndrome | | | | 121 | | |
HP:0040202 | HP:0100738 | Abnormal eating behavior | 1 | KCNJ10 CL E G H | 3766 | 6256 | OMIM:612780 | Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance | | | | 121 | | |
HP:0040202 | HP:0030082 | Abnormal drinking behavior | 1 | KCNJ10 CL E G H | 3766 | 6256 | OMIM:612780 | Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance | | | | 121 | | |
HP:0040202 | HP:0100738 | Abnormal eating behavior | 1 | KCNJ11 CL E G H | 3767 | 6257 | ORPHA:276580 | Autosomal dominant hyperinsulinism due to Kir6.2 deficiency | | | | 127 | | |
HP:0040202 | HP:0030082 | Abnormal drinking behavior | 1 | KCNJ5 CL E G H | 3762 | 6266 | ORPHA:251274 | Familial hyperaldosteronism type III | | | | 128 | | |
HP:0040202 | HP:0030082 | Abnormal drinking behavior | 1 | KCNJ5 CL E G H | 3762 | 6266 | OMIM:613677 | Hyperaldosteronism, familial, type III | | | | 128 | | |
HP:0040202 | HP:0100738 | Abnormal eating behavior | 1 | LARP7 CL E G H | 51574 | 24912 | ORPHA:319671 | Alazami syndrome | HP:0040282 - Frequent | | | 16 | | |
HP:0040202 | HP:0100738 | Abnormal eating behavior | 1 | LEP CL E G H | 3952 | 6553 | OMIM:614962 | Leptin deficiency or dysfunction | . | | | 47 | | |
HP:0040202 | HP:0100738 | Abnormal eating behavior | 1 | LEP CL E G H | 3952 | 6553 | ORPHA:66628 | Obesity due to congenital leptin deficiency | | | | 47 | | |
HP:0040202 | HP:0100738 | Abnormal eating behavior | 1 | LEPR CL E G H | 3953 | 6554 | OMIM:614963 | Leptin receptor deficiency | HP:0040280 - Obligate | HP:0003593 - Infantile onset | | 46 | | |
HP:0040202 | HP:0100738 | Abnormal eating behavior | 1 | LEPR CL E G H | 3953 | 6554 | ORPHA:179494 | Obesity due to leptin receptor gene deficiency | | | | 46 | | |
HP:0040202 | HP:0030082 | Abnormal drinking behavior | 1 | LRIG2 CL E G H | 9860 | 20889 | ORPHA:2704 | Ochoa syndrome | | | | 5 | | |
HP:0040202 | HP:0100738 | Abnormal eating behavior | 1 | LUZP1 CL E G H | 7798 | 14985 | ORPHA:1606 | 1p36 deletion syndrome | | | | | | |
HP:0040202 | HP:0030082 | Abnormal drinking behavior | 1 | LZTFL1 CL E G H | 54585 | 6741 | OMIM:615994 | BARDET-BIEDL SYNDROME 17; BBS17 | | | | 4 | | |
HP:0040202 | HP:0100738 | Abnormal eating behavior | 1 | MAGEL2 CL E G H | 54551 | 6814 | ORPHA:398069 | MAGEL2-related Prader-Willi-like syndrome | | | | 63 | | |
HP:0040202 | HP:0100738 | Abnormal eating behavior | 1 | MAGEL2 CL E G H | 54551 | 6814 | OMIM:176270 | Prader-Willi syndrome | | | | 63 | | |
HP:0040202 | HP:0100738 | Abnormal eating behavior | 1 | MAGEL2 CL E G H | 54551 | 6814 | ORPHA:177910 | Prader-Willi syndrome due to imprinting mutation | | | | 63 | | |
HP:0040202 | HP:0100738 | Abnormal eating behavior | 1 | MAGEL2 CL E G H | 54551 | 6814 | ORPHA:98754 | Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 | | | | 63 | | |
HP:0040202 | HP:0100738 | Abnormal eating behavior | 1 | MAGEL2 CL E G H | 54551 | 6814 | ORPHA:177901 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 | | | | 63 | | |
HP:0040202 | HP:0100738 | Abnormal eating behavior | 1 | MAGEL2 CL E G H | 54551 | 6814 | ORPHA:177904 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 | | | | 63 | | |
HP:0040202 | HP:0100738 | Abnormal eating behavior | 1 | MAGEL2 CL E G H | 54551 | 6814 | OMIM:615547 | Schaaf-Yang syndrome | | | | 63 | | |
HP:0040202 | HP:0100738 | Abnormal eating behavior | 1 | MAN1B1 CL E G H | 11253 | 6823 | ORPHA:397941 | MAN1B1-CDG | | | | 93 | | |
HP:0040202 | HP:0100738 | Abnormal eating behavior | 1 | MAPT CL E G H | 4137 | 6893 | OMIM:600274 | Frontotemporal dementia | | | | 140 | | |
HP:0040202 | HP:0100738 | Abnormal eating behavior | 1 | MAPT CL E G H | 4137 | 6893 | OMIM:172700 | Pick disease of brain | | | | 140 | | |
HP:0040202 | HP:0100738 | Abnormal eating behavior | 1 | MBD5 CL E G H | 55777 | 20444 | ORPHA:228402 | 2q23.1 microdeletion syndrome | | | | 252 | | |
HP:0040202 | HP:0100738 | Abnormal eating behavior | 1 | MBD5 CL E G H | 55777 | 20444 | OMIM:156200 | Mental retardation, autosomal dominant 1 | | | | 252 | | |
HP:0040202 | HP:0100738 | Abnormal eating behavior | 1 | MC4R CL E G H | 4160 | 6932 | OMIM:618406 | BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20; BMIQ20 | | | | 54 | | |
HP:0040202 | HP:0100738 | Abnormal eating behavior | 1 | MC4R CL E G H | 4160 | 6932 | ORPHA:71529 | Obesity due to melanocortin 4 receptor deficiency | | | | 54 | | |
HP:0040202 | HP:0100738 | Abnormal eating behavior | 1 | MEIS2 CL E G H | 4212 | 7001 | OMIM:600987 | Cleft palate, cardiac defects, and mental retardation | | | | 7 | | |
HP:0040202 | HP:0100738 | Abnormal eating behavior | 1 | MEN1 CL E G H | 4221 | 7010 | ORPHA:97279 | Insulinoma | | | | 462 | | |
HP:0040202 | HP:0100738 | Abnormal eating behavior | 1 | MKRN3 CL E G H | 7681 | 7114 | OMIM:176270 | Prader-Willi syndrome | | | | 5 | | |
HP:0040202 | HP:0100738 | Abnormal eating behavior | 1 | MKRN3-AS1 CL E G H | 10108 | | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0040202 | HP:0100738 | Abnormal eating behavior | 1 | MMP23B CL E G H | 8510 | 7171 | ORPHA:1606 | 1p36 deletion syndrome | | | | | | |
HP:0040202 | HP:0100738 | Abnormal eating behavior | 1 | MN1 CL E G H | 4330 | 7180 | OMIM:618774 | CEBALID SYNDROME; CEBALID | | | | 1 | | |
HP:0040202 | HP:0100738 | Abnormal eating behavior | 1 | MYO9A CL E G H | 4649 | 7608 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | | | | | | |
HP:0040202 | HP:0100738 | Abnormal eating behavior | 1 | MYT1L CL E G H | 23040 | 7623 | OMIM:616521 | Mental retardation, autosomal dominant 39 | | | | 13 | | |
HP:0040202 | HP:0100738 | Abnormal eating behavior | 1 | NDN CL E G H | 4692 | 7675 | ORPHA:177910 | Prader-Willi syndrome due to imprinting mutation | | | | | | |
HP:0040202 | HP:0100738 | Abnormal eating behavior | 1 | NDN CL E G H | 4692 | 7675 | ORPHA:98754 | Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 | | | | | | |
HP:0040202 | HP:0100738 | Abnormal eating behavior | 1 | NDN CL E G H | 4692 | 7675 | ORPHA:177901 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 | | | | | | |
HP:0040202 | HP:0100738 | Abnormal eating behavior | 1 | NDN CL E G H | 4692 | 7675 | ORPHA:177904 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 | | | | | | |
HP:0040202 | HP:0100738 | Abnormal eating behavior | 1 | NEXMIF CL E G H | 340533 | 29433 | OMIM:300912 | Mental retardation, X-linked 98 | | | | 52 | | |
HP:0040202 | HP:0100738 | Abnormal eating behavior | 1 | NKX2-1 CL E G H | 7080 | 11825 | ORPHA:209905 | Brain-lung-thyroid syndrome | HP:0040284 - Very rare | | | 51 | | |
HP:0040202 | HP:0030082 | Abnormal drinking behavior | 1 | NKX2-1 CL E G H | 7080 | 11825 | ORPHA:209905 | Brain-lung-thyroid syndrome | HP:0040284 - Very rare | | | 51 | | |
HP:0040202 | HP:0030082 | Abnormal drinking behavior | 1 | NLRP3 CL E G H | 114548 | 16400 | ORPHA:47045 | Familial cold urticaria | | | | 217 | | |
HP:0040202 | HP:0100738 | Abnormal eating behavior | 1 | NPAP1 CL E G H | 23742 | 1190 | OMIM:176270 | Prader-Willi syndrome | | | | 1 | | |
HP:0040202 | HP:0030082 | Abnormal drinking behavior | 1 | NPHP1 CL E G H | 4867 | 7905 | OMIM:256100 | Nephronophthisis 1 | | | | 85 | | |
HP:0040202 | HP:0030082 | Abnormal drinking behavior | 1 | NPHP1 CL E G H | 4867 | 7905 | OMIM:266900 | Senior-Loken syndrome 1 | | | | 85 | | |
HP:0040202 | HP:0030082 | Abnormal drinking behavior | 1 | NPHP3 CL E G H | 27031 | 7907 | OMIM:604387 | Nephronophthisis 3 | | | | 157 | | |
HP:0040202 | HP:0030082 | Abnormal drinking behavior | 1 | NPHP4 CL E G H | 261734 | 19104 | OMIM:606966 | Nephronophthisis 4 | | | | 220 | | |
HP:0040202 | HP:0030082 | Abnormal drinking behavior | 1 | NPHP4 CL E G H | 261734 | 19104 | OMIM:606996 | Senior-Loken syndrome 4 | | | | 220 | | |
HP:0040202 | HP:0100738 | Abnormal eating behavior | 1 | NTRK2 CL E G H | 4915 | 8032 | OMIM:613886 | Obesity, hyperphagia, and developmental delay | | | | 8 | | |
HP:0040202 | HP:0100738 | Abnormal eating behavior | 1 | OCA2 CL E G H | 4948 | 8101 | ORPHA:98794 | Angelman syndrome due to maternal 15q11q13 deletion | HP:0040282 - Frequent | | | 121 | | |
HP:0040202 | HP:0100738 | Abnormal eating behavior | 1 | OCA2 CL E G H | 4948 | 8101 | ORPHA:98754 | Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 | | | | 121 | | |
HP:0040202 | HP:0100738 | Abnormal eating behavior | 1 | OCA2 CL E G H | 4948 | 8101 | ORPHA:177901 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 | | | | 121 | | |
HP:0040202 | HP:0100738 | Abnormal eating behavior | 1 | OCA2 CL E G H | 4948 | 8101 | ORPHA:177904 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 | | | | 121 | | |
HP:0040202 | HP:0030082 | Abnormal drinking behavior | 1 | OTX2 CL E G H | 5015 | 8522 | ORPHA:3157 | Septo-optic dysplasia spectrum | | | | 41 | | |
HP:0040202 | HP:0100738 | Abnormal eating behavior | 1 | PACS1 CL E G H | 55690 | 30032 | ORPHA:329224 | Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome | | | | 24 | | |
HP:0040202 | HP:0100738 | Abnormal eating behavior | 1 | PCDH19 CL E G H | 57526 | 14270 | ORPHA:101039 | Female restricted epilepsy with intellectual disability | HP:0040284 - Very rare | | | 225 | | |
HP:0040202 | HP:0100738 | Abnormal eating behavior | 1 | PCSK1 CL E G H | 5122 | 8743 | ORPHA:71528 | Obesity due to prohormone convertase I deficiency | | | | 65 | | |
HP:0040202 | HP:0100738 | Abnormal eating behavior | 1 | PDPN CL E G H | 10630 | 29602 | ORPHA:1606 | 1p36 deletion syndrome | | | | | | |
HP:0040202 | HP:0030082 | Abnormal drinking behavior | 1 | PKHD1 CL E G H | 5314 | 9016 | ORPHA:731 | Autosomal recessive polycystic kidney disease | | | | 563 | | |
HP:0040202 | HP:0100738 | Abnormal eating behavior | 1 | PLA2G6 CL E G H | 8398 | 9039 | ORPHA:35069 | Infantile neuroaxonal dystrophy | | | | 133 | | |
HP:0040202 | HP:0100738 | Abnormal eating behavior | 1 | POMC CL E G H | 5443 | 9201 | ORPHA:71526 | Obesity due to pro-opiomelanocortin deficiency | | | | 27 | | |
HP:0040202 | HP:0100738 | Abnormal eating behavior | 1 | POMC CL E G H | 5443 | 9201 | OMIM:609734 | Obesity, early-onset, with adrenal insufficiency and red hair | | | | 27 | | |
HP:0040202 | HP:0100738 | Abnormal eating behavior | 1 | PRDM16 CL E G H | 63976 | 14000 | ORPHA:1606 | 1p36 deletion syndrome | | | | 148 | | |
HP:0040202 | HP:0100738 | Abnormal eating behavior | 1 | PREPL CL E G H | 9581 | 30228 | ORPHA:163690 | Hypotonia-cystinuria syndrome | | | | 7 | | |
HP:0040202 | HP:0100738 | Abnormal eating behavior | 1 | PRKCZ CL E G H | 5590 | 9412 | ORPHA:1606 | 1p36 deletion syndrome | | | | | | |
HP:0040202 | HP:0030082 | Abnormal drinking behavior | 1 | PROKR2 CL E G H | 128674 | 15836 | ORPHA:3157 | Septo-optic dysplasia spectrum | | | | 34 | | |
HP:0040202 | HP:0100738 | Abnormal eating behavior | 1 | PSEN1 CL E G H | 5663 | 9508 | OMIM:600274 | Frontotemporal dementia | | | | 241 | | |
HP:0040202 | HP:0100738 | Abnormal eating behavior | 1 | PSEN1 CL E G H | 5663 | 9508 | OMIM:172700 | Pick disease of brain | | | | 241 | | |
HP:0040202 | HP:0030082 | Abnormal drinking behavior | 1 | PTPN22 CL E G H | 26191 | 9652 | OMIM:222100 | Diabetes mellitus, insulin-dependent-1 | | | | 3 | | |
HP:0040202 | HP:0100738 | Abnormal eating behavior | 1 | PTPN22 CL E G H | 26191 | 9652 | OMIM:222100 | Diabetes mellitus, insulin-dependent-1 | | | | 3 | | |
HP:0040202 | HP:0100738 | Abnormal eating behavior | 1 | PWAR1 CL E G H | 145624 | 30089 | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0040202 | HP:0100738 | Abnormal eating behavior | 1 | PWRN1 CL E G H | 791114 | 33235 | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0040202 | HP:0100738 | Abnormal eating behavior | 1 | RERE CL E G H | 473 | 9965 | ORPHA:1606 | 1p36 deletion syndrome | | | | 16 | | |
HP:0040202 | HP:0100738 | Abnormal eating behavior | 1 | SATB2 CL E G H | 23314 | 21637 | ORPHA:251028 | SATB2-associated syndrome due to a chromosomal rearrangement | | | | 34 | | |
HP:0040202 | HP:0100738 | Abnormal eating behavior | 1 | SCN4A CL E G H | 6329 | 10591 | ORPHA:99734 | Myotonia fluctuans | | | | 263 | | |
HP:0040202 | HP:0100738 | Abnormal eating behavior | 1 | SETD2 CL E G H | 29072 | 18420 | OMIM:616831 | Luscan-Lumish syndrome | | | | 60 | | |
HP:0040202 | HP:0100738 | Abnormal eating behavior | 1 | SH2B1 CL E G H | 25970 | 30417 | ORPHA:329249 | Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency | | | | | | |
HP:0040202 | HP:0100738 | Abnormal eating behavior | 1 | SIM1 CL E G H | 6492 | 10882 | ORPHA:171829 | 6q16 microdeletion syndrome | | | | 40 | | |
HP:0040202 | HP:0100738 | Abnormal eating behavior | 1 | SIM1 CL E G H | 6492 | 10882 | ORPHA:369873 | Obesity due to SIM1 deficiency | | | | 40 | | |
HP:0040202 | HP:0100738 | Abnormal eating behavior | 1 | SIM1 CL E G H | 6492 | 10882 | ORPHA:398079 | SIM1-related Prader-Willi-like syndrome | | | | 40 | | |
HP:0040202 | HP:0100738 | Abnormal eating behavior | 1 | SKI CL E G H | 6497 | 10896 | ORPHA:1606 | 1p36 deletion syndrome | | | | 150 | | |
HP:0040202 | HP:0100738 | Abnormal eating behavior | 1 | SLC12A3 CL E G H | 6559 | 10912 | ORPHA:358 | Gitelman syndrome | | | | 145 | | |
HP:0040202 | HP:0030082 | Abnormal drinking behavior | 1 | SLC12A3 CL E G H | 6559 | 10912 | ORPHA:358 | Gitelman syndrome | | | | 145 | | |
HP:0040202 | HP:0030082 | Abnormal drinking behavior | 1 | SLC12A3 CL E G H | 6559 | 10912 | OMIM:263800 | Gitelman syndrome | | | | 145 | | |
HP:0040202 | HP:0100738 | Abnormal eating behavior | 1 | SLC12A3 CL E G H | 6559 | 10912 | OMIM:263800 | Gitelman syndrome | | | | 145 | | |
HP:0040202 | HP:0100738 | Abnormal eating behavior | 1 | SLC18A3 CL E G H | 6572 | 10936 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | | | | 2 | | |
HP:0040202 | HP:0100738 | Abnormal eating behavior | 1 | SLC25A1 CL E G H | 6576 | 10979 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | | | | 28 | | |
HP:0040202 | HP:0100738 | Abnormal eating behavior | 1 | SLC25A13 CL E G H | 10165 | 10983 | ORPHA:247585 | Citrullinemia type II | HP:0040282 - Frequent | | | 82 | | |
HP:0040202 | HP:0100738 | Abnormal eating behavior | 1 | SLC2A3 CL E G H | 6515 | 11007 | ORPHA:399 | Huntington disease | | | | 1 | | |
HP:0040202 | HP:0100738 | Abnormal eating behavior | 1 | SLC3A1 CL E G H | 6519 | 11025 | ORPHA:163690 | Hypotonia-cystinuria syndrome | | | | 55 | | |
HP:0040202 | HP:0030082 | Abnormal drinking behavior | 1 | SLC41A1 CL E G H | 254428 | 19429 | OMIM:619468 | NEPHRONOPHTHISIS-LIKE NEPHROPATHY 2; NPHPL2 | | | | | | |
HP:0040202 | HP:0100738 | Abnormal eating behavior | 1 | SLC5A2 CL E G H | 6524 | 11037 | OMIM:233100 | Renal glucosuria | | | | 41 | | |
HP:0040202 | HP:0030082 | Abnormal drinking behavior | 1 | SLC5A2 CL E G H | 6524 | 11037 | OMIM:233100 | Renal glucosuria | | | | 41 | | |
HP:0040202 | HP:0100738 | Abnormal eating behavior | 1 | SLC5A7 CL E G H | 60482 | 14025 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | | | | 9 | | |
HP:0040202 | HP:0100738 | Abnormal eating behavior | 1 | SLC7A7 CL E G H | 9056 | 11065 | ORPHA:470 | Lysinuric protein intolerance | | | | 104 | | |
HP:0040202 | HP:0100738 | Abnormal eating behavior | 1 | SMARCA4 CL E G H | 6597 | 11100 | ORPHA:1465 | Coffin-Siris syndrome | | | | 617 | | |
HP:0040202 | HP:0100738 | Abnormal eating behavior | 1 | SMARCB1 CL E G H | 6598 | 11103 | ORPHA:1465 | Coffin-Siris syndrome | | | | 87 | | |
HP:0040202 | HP:0100738 | Abnormal eating behavior | 1 | SMARCC2 CL E G H | 6601 | 11105 | ORPHA:1465 | Coffin-Siris syndrome | | | | 1 | | |
HP:0040202 | HP:0100738 | Abnormal eating behavior | 1 | SMARCD1 CL E G H | 6602 | 11106 | ORPHA:1465 | Coffin-Siris syndrome | | | | | | |
HP:0040202 | HP:0100738 | Abnormal eating behavior | 1 | SMARCE1 CL E G H | 6605 | 11109 | ORPHA:1465 | Coffin-Siris syndrome | | | | 47 | | |
HP:0040202 | HP:0100738 | Abnormal eating behavior | 1 | SNAP25 CL E G H | 6616 | 11132 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | | | | 2 | | |
HP:0040202 | HP:0100738 | Abnormal eating behavior | 1 | SNORD115-1 CL E G H | 338433 | 33020 | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0040202 | HP:0100738 | Abnormal eating behavior | 1 | SNORD116-1 CL E G H | 100033413 | 33067 | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0040202 | HP:0100738 | Abnormal eating behavior | 1 | SNRPN CL E G H | 6638 | 11164 | ORPHA:411515 | Angelman syndrome due to imprinting defect in 15q11-q13 | | | | 37 | | |
HP:0040202 | HP:0100738 | Abnormal eating behavior | 1 | SNRPN CL E G H | 6638 | 11164 | ORPHA:177910 | Prader-Willi syndrome due to imprinting mutation | | | | 37 | | |
HP:0040202 | HP:0100738 | Abnormal eating behavior | 1 | SNRPN CL E G H | 6638 | 11164 | ORPHA:98754 | Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 | | | | 37 | | |
HP:0040202 | HP:0100738 | Abnormal eating behavior | 1 | SNRPN CL E G H | 6638 | 11164 | ORPHA:177901 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 | | | | 37 | | |
HP:0040202 | HP:0100738 | Abnormal eating behavior | 1 | SNRPN CL E G H | 6638 | 11164 | ORPHA:177904 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 | | | | 37 | | |
HP:0040202 | HP:0100738 | Abnormal eating behavior | 1 | SOX11 CL E G H | 6664 | 11191 | ORPHA:1465 | Coffin-Siris syndrome | | | | 14 | | |
HP:0040202 | HP:0030082 | Abnormal drinking behavior | 1 | SOX2 CL E G H | 6657 | 11195 | ORPHA:3157 | Septo-optic dysplasia spectrum | | | | 33 | | |
HP:0040202 | HP:0030082 | Abnormal drinking behavior | 1 | SOX3 CL E G H | 6658 | 11199 | ORPHA:3157 | Septo-optic dysplasia spectrum | | | | 24 | | |
HP:0040202 | HP:0100738 | Abnormal eating behavior | 1 | SOX4 CL E G H | 6659 | 11200 | ORPHA:1465 | Coffin-Siris syndrome | | | | | | |
HP:0040202 | HP:0100738 | Abnormal eating behavior | 1 | SPEN CL E G H | 23013 | 17575 | ORPHA:1606 | 1p36 deletion syndrome | | | | 4 | | |
HP:0040202 | HP:0100738 | Abnormal eating behavior | 1 | SYNGAP1 CL E G H | 8831 | 11497 | ORPHA:544254 | SYNGAP1-related developmental and epileptic encephalopathy | HP:0040282 - Frequent | | | 108 | | |
HP:0040202 | HP:0100738 | Abnormal eating behavior | 1 | SYT2 CL E G H | 127833 | 11510 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | | | | 4 | | |
HP:0040202 | HP:0030082 | Abnormal drinking behavior | 1 | TMEM67 CL E G H | 91147 | 28396 | OMIM:613550 | NEPHRONOPHTHISIS 11; NPHP11 | | | | 166 | | |
HP:0040202 | HP:0030082 | Abnormal drinking behavior | 1 | TMEM67 CL E G H | 91147 | 28396 | ORPHA:84081 | Senior-Boichis syndrome | | | | 166 | | |
HP:0040202 | HP:0100738 | Abnormal eating behavior | 1 | UBE3A CL E G H | 7337 | 12496 | ORPHA:411511 | Angelman syndrome due to a point mutation | HP:0040283 - Occasional | | | 278 | | |
HP:0040202 | HP:0100738 | Abnormal eating behavior | 1 | UBE3A CL E G H | 7337 | 12496 | ORPHA:411515 | Angelman syndrome due to imprinting defect in 15q11-q13 | | | | 278 | | |
HP:0040202 | HP:0100738 | Abnormal eating behavior | 1 | UBE3A CL E G H | 7337 | 12496 | ORPHA:98794 | Angelman syndrome due to maternal 15q11q13 deletion | HP:0040282 - Frequent | | | 278 | | |
HP:0040202 | HP:0100738 | Abnormal eating behavior | 1 | UBE4B CL E G H | 10277 | 12500 | ORPHA:1606 | 1p36 deletion syndrome | | | | | | |
HP:0040202 | HP:0100738 | Abnormal eating behavior | 1 | UCP2 CL E G H | 7351 | 12518 | ORPHA:276556 | Hyperinsulinism due to UCP2 deficiency | | | | 15 | | |
HP:0040202 | HP:0100738 | Abnormal eating behavior | 1 | VAMP1 CL E G H | 6843 | 12642 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | | | | 2 | | |
HP:0040202 | HP:0030082 | Abnormal drinking behavior | 1 | WFS1 CL E G H | 7466 | 12762 | ORPHA:3463 | Wolfram syndrome | | | | 389 | | |
HP:0040202 | HP:0100738 | Abnormal eating behavior | 1 | YY1 CL E G H | 7528 | 12856 | ORPHA:97279 | Insulinoma | | | | 7 | | |
HP:0040202 | HP:0100738 | Abnormal eating behavior | 1 | ZNF699 CL E G H | 374879 | 24750 | OMIM:619488 | DEGCAGS SYNDROME; DEGCAGS | | | | | | |
HP:0040202 | HP:0030221 | Sweet craving | 2 | CL E G H | | | | | | | | | | |
HP:0040202 | HP:0025382 | Hypodipsia | 2 | CL E G H | | | | | | | | | | |
HP:0040202 | HP:0002591 | Polyphagia | 2 | ABCC8 CL E G H | 6833 | 59 | ORPHA:276575 | Autosomal dominant hyperinsulinism due to SUR1 deficiency | HP:0040283 - Occasional | | | 245 | | |
HP:0040202 | HP:0012523 | Oral aversion | 2 | ACAT1 CL E G H | 38 | 93 | ORPHA:134 | Beta-ketothiolase deficiency | HP:0040283 - Occasional | | | 91 | | |
HP:0040202 | HP:0002591 | Polyphagia | 2 | ADCY3 CL E G H | 109 | 234 | OMIM:617885 | Body mass index quantitative trait locus 19 | | | | | | |
HP:0040202 | HP:0002591 | Polyphagia | 2 | ADNP CL E G H | 23394 | 15766 | ORPHA:404448 | ADNP syndrome | HP:0040282 - Frequent | | | 47 | | |
HP:0040202 | HP:0002591 | Polyphagia | 2 | AGPAT2 CL E G H | 10555 | 325 | OMIM:608594 | Lipodystrophy, congenital generalized, type 1 | . | | | 85 | | |
HP:0040202 | HP:0030842 | Choking episodes | 2 | AGRN CL E G H | 375790 | 329 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040282 - Frequent | | | 127 | | |
HP:0040202 | HP:0002591 | Polyphagia | 2 | ALMS1 CL E G H | 7840 | 428 | ORPHA:64 | Alström syndrome | HP:0040282 - Frequent | | | 404 | | |
HP:0040202 | HP:0001959 | Polydipsia | 2 | AQP2 CL E G H | 359 | 634 | OMIM:125800 | Diabetes insipidus, nephrogenic, 2 | | | | 75 | | |
HP:0040202 | HP:0001959 | Polydipsia | 2 | AQP2 CL E G H | 359 | 634 | ORPHA:223 | Nephrogenic diabetes insipidus | HP:0040282 - Frequent | | | 75 | | |
HP:0040202 | HP:0012523 | Oral aversion | 2 | ARID1A CL E G H | 8289 | 11110 | ORPHA:1465 | Coffin-Siris syndrome | HP:0040283 - Occasional | | | 88 | | |
HP:0040202 | HP:0012523 | Oral aversion | 2 | ARID1B CL E G H | 57492 | 18040 | ORPHA:1465 | Coffin-Siris syndrome | HP:0040283 - Occasional | | | 219 | | |
HP:0040202 | HP:0012523 | Oral aversion | 2 | ARID2 CL E G H | 196528 | 18037 | ORPHA:1465 | Coffin-Siris syndrome | HP:0040283 - Occasional | | | 25 | | |
HP:0040202 | HP:0001959 | Polydipsia | 2 | ARNT2 CL E G H | 9915 | 16876 | ORPHA:3157 | Septo-optic dysplasia spectrum | HP:0040283 - Occasional | | | | | |
HP:0040202 | HP:0011856 | Pica | 2 | ASH1L CL E G H | 55870 | 19088 | OMIM:617796 | Mental retardation, autosomal dominant 52 | | | | 1 | | |
HP:0040202 | HP:0002591 | Polyphagia | 2 | ATP10A CL E G H | 57194 | 13542 | ORPHA:411515 | Angelman syndrome due to imprinting defect in 15q11-q13 | HP:0040282 - Frequent | | | 4 | | |
HP:0040202 | HP:0001959 | Polydipsia | 2 | AVP CL E G H | 551 | 894 | ORPHA:30925 | Hereditary central diabetes insipidus | HP:0040281 - Very frequent | | | 22 | | |
HP:0040202 | HP:0001959 | Polydipsia | 2 | AVPR2 CL E G H | 554 | 897 | OMIM:304800 | Diabetes insipidus, nephrogenic, X-linked | . | | | 67 | | |
HP:0040202 | HP:0001959 | Polydipsia | 2 | AVPR2 CL E G H | 554 | 897 | ORPHA:223 | Nephrogenic diabetes insipidus | HP:0040282 - Frequent | | | 67 | | |
HP:0040202 | HP:0001959 | Polydipsia | 2 | BBS9 CL E G H | 27241 | 30000 | OMIM:615986 | BARDET-BIEDL SYNDROME 9; BBS9 | | | | 119 | | |
HP:0040202 | HP:0002591 | Polyphagia | 2 | BBS9 CL E G H | 27241 | 30000 | OMIM:615986 | BARDET-BIEDL SYNDROME 9; BBS9 | | | | 119 | | |
HP:0040202 | HP:0002591 | Polyphagia | 2 | BRAF CL E G H | 673 | 1097 | ORPHA:54595 | Craniopharyngioma | HP:0040283 - Occasional | | | 276 | | |
HP:0040202 | HP:0002591 | Polyphagia | 2 | BSCL2 CL E G H | 26580 | 15832 | OMIM:269700 | Lipodystrophy, congenital generalized, type 2 | . | | | 105 | | |
HP:0040202 | HP:0001959 | Polydipsia | 2 | BSND CL E G H | 7809 | 16512 | OMIM:602522 | Bartter syndrome, type 4A, neonatal, with sensorineural deafness | | | | 53 | | |
HP:0040202 | HP:0030842 | Choking episodes | 2 | CACNA1A CL E G H | 773 | 1388 | ORPHA:98758 | Spinocerebellar ataxia type 6 | HP:0040282 - Frequent | | | 449 | | |
HP:0040202 | HP:0001959 | Polydipsia | 2 | CACNA1D CL E G H | 776 | 1391 | ORPHA:369929 | Primary hyperaldosteronism-seizures-neurological abnormalities syndrome | HP:0040282 - Frequent | | | 51 | | |
HP:0040202 | HP:0001959 | Polydipsia | 2 | CASR CL E G H | 846 | 1514 | OMIM:239200 | Hyperparathyroidism, neonatal severe | . | | | 272 | | |
HP:0040202 | HP:0002591 | Polyphagia | 2 | CASZ1 CL E G H | 54897 | 26002 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040283 - Occasional | | | 3 | | |
HP:0040202 | HP:0001959 | Polydipsia | 2 | CDC73 CL E G H | 79577 | 16783 | ORPHA:99880 | Hyperparathyroidism-jaw tumor syndrome | HP:0040282 - Frequent | | | 169 | | |
HP:0040202 | HP:0001959 | Polydipsia | 2 | CDC73 CL E G H | 79577 | 16783 | ORPHA:143 | Parathyroid carcinoma | HP:0040282 - Frequent | | | 169 | | |
HP:0040202 | HP:0011856 | Pica | 2 | CDK13 CL E G H | 8621 | 1733 | OMIM:617360 | Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder | | | | 8 | | |
HP:0040202 | HP:0030842 | Choking episodes | 2 | CHAT CL E G H | 1103 | 1912 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040282 - Frequent | | | 65 | | |
HP:0040202 | HP:0011856 | Pica | 2 | CHD8 CL E G H | 57680 | 20153 | OMIM:615032 | AUTISM, SUSCEPTIBILITY TO, 18; AUTS18 | | | | 72 | | |
HP:0040202 | HP:0001959 | Polydipsia | 2 | CISD2 CL E G H | 493856 | 24212 | ORPHA:3463 | Wolfram syndrome | HP:0040281 - Very frequent | | | 3 | | |
HP:0040202 | HP:0001959 | Polydipsia | 2 | CLCNKB CL E G H | 1188 | 2027 | ORPHA:358 | Gitelman syndrome | HP:0040284 - Very rare | | | 27 | | |
HP:0040202 | HP:0030083 | Salt craving | 2 | CLCNKB CL E G H | 1188 | 2027 | ORPHA:358 | Gitelman syndrome | HP:0040283 - Occasional | | | 27 | | |
HP:0040202 | HP:0001959 | Polydipsia | 2 | CLDN10 CL E G H | 9071 | 2033 | OMIM:617671 | Helix syndrome | . | | | 3 | | |
HP:0040202 | HP:0001959 | Polydipsia | 2 | CLDN16 CL E G H | 10686 | 2037 | OMIM:248250 | Hypomagnesemia 3, renal | . | | | 58 | | |
HP:0040202 | HP:0030842 | Choking episodes | 2 | COL13A1 CL E G H | 1305 | 2190 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040282 - Frequent | | | 6 | | |
HP:0040202 | HP:0002591 | Polyphagia | 2 | CTNNB1 CL E G H | 1499 | 2514 | ORPHA:54595 | Craniopharyngioma | HP:0040283 - Occasional | | | 88 | | |
HP:0040202 | HP:0001959 | Polydipsia | 2 | CTNS CL E G H | 1497 | 2518 | OMIM:219800 | Cystinosis, nephropathic | | | | 178 | | |
HP:0040202 | HP:0001959 | Polydipsia | 2 | CTNS CL E G H | 1497 | 2518 | ORPHA:411629 | Infantile nephropathic cystinosis | HP:0040281 - Very frequent | | | 178 | | |
HP:0040202 | HP:0001959 | Polydipsia | 2 | CTNS CL E G H | 1497 | 2518 | ORPHA:411634 | Juvenile nephropathic cystinosis | HP:0040283 - Occasional | | | 178 | | |
HP:0040202 | HP:0001959 | Polydipsia | 2 | CYP11B1 CL E G H | 1584 | 2591 | ORPHA:403 | Familial hyperaldosteronism type I | HP:0040283 - Occasional | | | 112 | | |
HP:0040202 | HP:0001959 | Polydipsia | 2 | CYP11B2 CL E G H | 1585 | 2592 | ORPHA:403 | Familial hyperaldosteronism type I | HP:0040283 - Occasional | | | 73 | | |
HP:0040202 | HP:0001959 | Polydipsia | 2 | DCDC2 CL E G H | 51473 | 18141 | ORPHA:84081 | Senior-Boichis syndrome | | | | 8 | | |
HP:0040202 | HP:0011856 | Pica | 2 | DHPS CL E G H | 1725 | 2869 | OMIM:618480 | Neurodevelopmental disorder with seizures and speech and walking impairment | . | | | | | |
HP:0040202 | HP:0012523 | Oral aversion | 2 | DPF2 CL E G H | 5977 | 9964 | ORPHA:1465 | Coffin-Siris syndrome | HP:0040283 - Occasional | | | | | |
HP:0040202 | HP:0001959 | Polydipsia | 2 | DZIP1L CL E G H | 199221 | 26551 | ORPHA:731 | Autosomal recessive polycystic kidney disease | HP:0040283 - Occasional | | | 4 | | |
HP:0040202 | HP:0011856 | Pica | 2 | ELP2 CL E G H | 55250 | 18248 | OMIM:617270 | Mental retardation, autosomal recessive 58 | | | | 6 | | |
HP:0040202 | HP:0002591 | Polyphagia | 2 | EZH2 CL E G H | 2146 | 3527 | OMIM:277590 | Weaver syndrome | | | | 81 | | |
HP:0040202 | HP:0001959 | Polydipsia | 2 | FGFR1 CL E G H | 2260 | 3688 | ORPHA:3157 | Septo-optic dysplasia spectrum | HP:0040283 - Occasional | | | 172 | | |
HP:0040202 | HP:0002591 | Polyphagia | 2 | GABRD CL E G H | 2563 | 4084 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040283 - Occasional | | | 10 | | |
HP:0040202 | HP:0002591 | Polyphagia | 2 | GNAS CL E G H | 2778 | 4392 | ORPHA:79443 | Pseudohypoparathyroidism type 1A | HP:0040282 - Frequent | | | 101 | | |
HP:0040202 | HP:0002591 | Polyphagia | 2 | GNAS CL E G H | 2778 | 4392 | ORPHA:79444 | Pseudohypoparathyroidism type 1C | HP:0040282 - Frequent | | | 101 | | |
HP:0040202 | HP:0002591 | Polyphagia | 2 | GPR101 CL E G H | 83550 | 14963 | OMIM:300942 | Chromosome Xq26.3 duplication syndrome | . | | | 5 | | |
HP:0040202 | HP:0012523 | Oral aversion | 2 | GRB10 CL E G H | 2887 | 4564 | ORPHA:96182 | Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 | HP:0040283 - Occasional | | | | | |
HP:0040202 | HP:0002591 | Polyphagia | 2 | GRN CL E G H | 2896 | 4601 | OMIM:607485 | Frontotemporal lobar degeneration with TDP43 inclusions | . | | | 126 | | |
HP:0040202 | HP:0002591 | Polyphagia | 2 | HERC2 CL E G H | 8924 | 4868 | OMIM:176270 | Prader-Willi syndrome | | | | 38 | | |
HP:0040202 | HP:0001959 | Polydipsia | 2 | HESX1 CL E G H | 8820 | 4877 | ORPHA:3157 | Septo-optic dysplasia spectrum | HP:0040283 - Occasional | | | 21 | | |
HP:0040202 | HP:0002591 | Polyphagia | 2 | HNF1A CL E G H | 6927 | 11621 | OMIM:222100 | Diabetes mellitus, insulin-dependent-1 | . | | | 161 | | |
HP:0040202 | HP:0001959 | Polydipsia | 2 | HNF1A CL E G H | 6927 | 11621 | OMIM:222100 | Diabetes mellitus, insulin-dependent-1 | . | | | 161 | | |
HP:0040202 | HP:0002591 | Polyphagia | 2 | HNF1A CL E G H | 6927 | 11621 | ORPHA:324575 | Hyperinsulinism due to HNF1A deficiency | HP:0040283 - Occasional | | | 161 | | |
HP:0040202 | HP:0001959 | Polydipsia | 2 | HNF1B CL E G H | 6928 | 11630 | ORPHA:93111 | HNF1B-related autosomal dominant tubulointerstitial kidney disease | HP:0040283 - Occasional | | | 90 | | |
HP:0040202 | HP:0001959 | Polydipsia | 2 | HPSE2 CL E G H | 60495 | 18374 | ORPHA:2704 | Ochoa syndrome | HP:0040283 - Occasional | | | 9 | | |
HP:0040202 | HP:0001959 | Polydipsia | 2 | HSD11B2 CL E G H | 3291 | 5209 | ORPHA:320 | Apparent mineralocorticoid excess | HP:0040282 - Frequent | | | 14 | | |
HP:0040202 | HP:0002591 | Polyphagia | 2 | HSPG2 CL E G H | 3339 | 5273 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040283 - Occasional | | | 345 | | |
HP:0040202 | HP:0002591 | Polyphagia | 2 | HTT CL E G H | 3064 | 4851 | ORPHA:399 | Huntington disease | HP:0040283 - Occasional | | | 12 | | |
HP:0040202 | HP:0030842 | Choking episodes | 2 | HTT CL E G H | 3064 | 4851 | ORPHA:399 | Huntington disease | HP:0040283 - Occasional | | | 12 | | |
HP:0040202 | HP:0002591 | Polyphagia | 2 | IFT74 CL E G H | 80173 | 21424 | OMIM:617119 | BARDET-BIEDL SYNDROME 20; BBS20 | | | | 3 | | |
HP:0040202 | HP:0001959 | Polydipsia | 2 | IL6 CL E G H | 3569 | 6018 | OMIM:222100 | Diabetes mellitus, insulin-dependent-1 | . | | | 2 | | |
HP:0040202 | HP:0002591 | Polyphagia | 2 | IL6 CL E G H | 3569 | 6018 | OMIM:222100 | Diabetes mellitus, insulin-dependent-1 | . | | | 2 | | |
HP:0040202 | HP:0001959 | Polydipsia | 2 | INSR CL E G H | 3643 | 6091 | ORPHA:769 | Rabson-Mendenhall syndrome | HP:0040283 - Occasional | | | 229 | | |
HP:0040202 | HP:0002591 | Polyphagia | 2 | IPW CL E G H | 3653 | 6109 | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0040202 | HP:0001959 | Polydipsia | 2 | IRF4 CL E G H | 3662 | 6119 | ORPHA:3452 | Whipple disease | HP:0040283 - Occasional | | | 1 | | |
HP:0040202 | HP:0002591 | Polyphagia | 2 | ITPR3 CL E G H | 3710 | 6182 | OMIM:222100 | Diabetes mellitus, insulin-dependent-1 | . | | | | | |
HP:0040202 | HP:0001959 | Polydipsia | 2 | ITPR3 CL E G H | 3710 | 6182 | OMIM:222100 | Diabetes mellitus, insulin-dependent-1 | . | | | | | |
HP:0040202 | HP:0002591 | Polyphagia | 2 | KCNAB2 CL E G H | 8514 | 6229 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0040202 | HP:0001959 | Polydipsia | 2 | KCNJ1 CL E G H | 3758 | 6255 | OMIM:241200 | Bartter syndrome, antenatal, type 2 | . | | | 51 | | |
HP:0040202 | HP:0030083 | Salt craving | 2 | KCNJ10 CL E G H | 3766 | 6256 | ORPHA:199343 | EAST syndrome | HP:0040281 - Very frequent | | | 121 | | |
HP:0040202 | HP:0001959 | Polydipsia | 2 | KCNJ10 CL E G H | 3766 | 6256 | ORPHA:199343 | EAST syndrome | HP:0040282 - Frequent | | | 121 | | |
HP:0040202 | HP:0030083 | Salt craving | 2 | KCNJ10 CL E G H | 3766 | 6256 | OMIM:612780 | Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance | . | | | 121 | | |
HP:0040202 | HP:0001959 | Polydipsia | 2 | KCNJ10 CL E G H | 3766 | 6256 | OMIM:612780 | Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance | . | | | 121 | | |
HP:0040202 | HP:0002591 | Polyphagia | 2 | KCNJ11 CL E G H | 3767 | 6257 | ORPHA:276580 | Autosomal dominant hyperinsulinism due to Kir6.2 deficiency | HP:0040283 - Occasional | | | 127 | | |
HP:0040202 | HP:0001959 | Polydipsia | 2 | KCNJ5 CL E G H | 3762 | 6266 | ORPHA:251274 | Familial hyperaldosteronism type III | HP:0040283 - Occasional | | | 128 | | |
HP:0040202 | HP:0001959 | Polydipsia | 2 | KCNJ5 CL E G H | 3762 | 6266 | OMIM:613677 | Hyperaldosteronism, familial, type III | HP:0040283 - Occasional | | | 128 | | |
HP:0040202 | HP:0002591 | Polyphagia | 2 | LEP CL E G H | 3952 | 6553 | OMIM:614962 | Leptin deficiency or dysfunction | . | | | 47 | | |
HP:0040202 | HP:0002591 | Polyphagia | 2 | LEP CL E G H | 3952 | 6553 | ORPHA:66628 | Obesity due to congenital leptin deficiency | HP:0040281 - Very frequent | | | 47 | | |
HP:0040202 | HP:0002591 | Polyphagia | 2 | LEPR CL E G H | 3953 | 6554 | OMIM:614963 | Leptin receptor deficiency | . | | | 46 | | |
HP:0040202 | HP:0002591 | Polyphagia | 2 | LEPR CL E G H | 3953 | 6554 | ORPHA:179494 | Obesity due to leptin receptor gene deficiency | HP:0040281 - Very frequent | | | 46 | | |
HP:0040202 | HP:0001959 | Polydipsia | 2 | LRIG2 CL E G H | 9860 | 20889 | ORPHA:2704 | Ochoa syndrome | HP:0040283 - Occasional | | | 5 | | |
HP:0040202 | HP:0002591 | Polyphagia | 2 | LUZP1 CL E G H | 7798 | 14985 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040283 - Occasional | | | | | |
HP:0040202 | HP:0001959 | Polydipsia | 2 | LZTFL1 CL E G H | 54585 | 6741 | OMIM:615994 | BARDET-BIEDL SYNDROME 17; BBS17 | | | | 4 | | |
HP:0040202 | HP:0002591 | Polyphagia | 2 | MAGEL2 CL E G H | 54551 | 6814 | ORPHA:398069 | MAGEL2-related Prader-Willi-like syndrome | HP:0040282 - Frequent | | | 63 | | |
HP:0040202 | HP:0002591 | Polyphagia | 2 | MAGEL2 CL E G H | 54551 | 6814 | OMIM:176270 | Prader-Willi syndrome | | | | 63 | | |
HP:0040202 | HP:0002591 | Polyphagia | 2 | MAGEL2 CL E G H | 54551 | 6814 | ORPHA:177910 | Prader-Willi syndrome due to imprinting mutation | HP:0040282 - Frequent | | | 63 | | |
HP:0040202 | HP:0002591 | Polyphagia | 2 | MAGEL2 CL E G H | 54551 | 6814 | ORPHA:98754 | Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 | HP:0040282 - Frequent | | | 63 | | |
HP:0040202 | HP:0100739 | Bulimia | 2 | MAGEL2 CL E G H | 54551 | 6814 | ORPHA:98754 | Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 | HP:0040283 - Occasional | | | 63 | | |
HP:0040202 | HP:0100739 | Bulimia | 2 | MAGEL2 CL E G H | 54551 | 6814 | ORPHA:177901 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 | HP:0040282 - Frequent | | | 63 | | |
HP:0040202 | HP:0002591 | Polyphagia | 2 | MAGEL2 CL E G H | 54551 | 6814 | ORPHA:177901 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 | HP:0040282 - Frequent | | | 63 | | |
HP:0040202 | HP:0100739 | Bulimia | 2 | MAGEL2 CL E G H | 54551 | 6814 | ORPHA:177904 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 | HP:0040283 - Occasional | | | 63 | | |
HP:0040202 | HP:0002591 | Polyphagia | 2 | MAGEL2 CL E G H | 54551 | 6814 | ORPHA:177904 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 | HP:0040281 - Very frequent | | | 63 | | |
HP:0040202 | HP:0002591 | Polyphagia | 2 | MAGEL2 CL E G H | 54551 | 6814 | OMIM:615547 | Schaaf-Yang syndrome | . | | | 63 | | |
HP:0040202 | HP:0002591 | Polyphagia | 2 | MAN1B1 CL E G H | 11253 | 6823 | ORPHA:397941 | MAN1B1-CDG | HP:0040283 - Occasional | | | 93 | | |
HP:0040202 | HP:0002591 | Polyphagia | 2 | MAPT CL E G H | 4137 | 6893 | OMIM:600274 | Frontotemporal dementia | . | | | 140 | | |
HP:0040202 | HP:0002591 | Polyphagia | 2 | MAPT CL E G H | 4137 | 6893 | OMIM:172700 | Pick disease of brain | . | | | 140 | | |
HP:0040202 | HP:0002591 | Polyphagia | 2 | MBD5 CL E G H | 55777 | 20444 | ORPHA:228402 | 2q23.1 microdeletion syndrome | HP:0040282 - Frequent | | | 252 | | |
HP:0040202 | HP:0002591 | Polyphagia | 2 | MBD5 CL E G H | 55777 | 20444 | OMIM:156200 | Mental retardation, autosomal dominant 1 | . | | | 252 | | |
HP:0040202 | HP:0002591 | Polyphagia | 2 | MC4R CL E G H | 4160 | 6932 | OMIM:618406 | BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20; BMIQ20 | | | | 54 | | |
HP:0040202 | HP:0002591 | Polyphagia | 2 | MC4R CL E G H | 4160 | 6932 | ORPHA:71529 | Obesity due to melanocortin 4 receptor deficiency | HP:0040281 - Very frequent | | | 54 | | |
HP:0040202 | HP:0012523 | Oral aversion | 2 | MEIS2 CL E G H | 4212 | 7001 | OMIM:600987 | Cleft palate, cardiac defects, and mental retardation | | | | 7 | | |
HP:0040202 | HP:0002591 | Polyphagia | 2 | MEN1 CL E G H | 4221 | 7010 | ORPHA:97279 | Insulinoma | HP:0040282 - Frequent | | | 462 | | |
HP:0040202 | HP:0002591 | Polyphagia | 2 | MKRN3 CL E G H | 7681 | 7114 | OMIM:176270 | Prader-Willi syndrome | | | | 5 | | |
HP:0040202 | HP:0002591 | Polyphagia | 2 | MKRN3-AS1 CL E G H | 10108 | | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0040202 | HP:0002591 | Polyphagia | 2 | MMP23B CL E G H | 8510 | 7171 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040283 - Occasional | | | | | |
HP:0040202 | HP:0002591 | Polyphagia | 2 | MN1 CL E G H | 4330 | 7180 | OMIM:618774 | CEBALID SYNDROME; CEBALID | | | | 1 | | |
HP:0040202 | HP:0030842 | Choking episodes | 2 | MYO9A CL E G H | 4649 | 7608 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040282 - Frequent | | | | | |
HP:0040202 | HP:0002591 | Polyphagia | 2 | MYT1L CL E G H | 23040 | 7623 | OMIM:616521 | Mental retardation, autosomal dominant 39 | | | | 13 | | |
HP:0040202 | HP:0002591 | Polyphagia | 2 | NDN CL E G H | 4692 | 7675 | ORPHA:177910 | Prader-Willi syndrome due to imprinting mutation | HP:0040282 - Frequent | | | | | |
HP:0040202 | HP:0100739 | Bulimia | 2 | NDN CL E G H | 4692 | 7675 | ORPHA:98754 | Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 | HP:0040283 - Occasional | | | | | |
HP:0040202 | HP:0002591 | Polyphagia | 2 | NDN CL E G H | 4692 | 7675 | ORPHA:98754 | Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 | HP:0040282 - Frequent | | | | | |
HP:0040202 | HP:0002591 | Polyphagia | 2 | NDN CL E G H | 4692 | 7675 | ORPHA:177901 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 | HP:0040282 - Frequent | | | | | |
HP:0040202 | HP:0100739 | Bulimia | 2 | NDN CL E G H | 4692 | 7675 | ORPHA:177901 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 | HP:0040282 - Frequent | | | | | |
HP:0040202 | HP:0002591 | Polyphagia | 2 | NDN CL E G H | 4692 | 7675 | ORPHA:177904 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 | HP:0040281 - Very frequent | | | | | |
HP:0040202 | HP:0100739 | Bulimia | 2 | NDN CL E G H | 4692 | 7675 | ORPHA:177904 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 | HP:0040283 - Occasional | | | | | |
HP:0040202 | HP:0100739 | Bulimia | 2 | NEXMIF CL E G H | 340533 | 29433 | OMIM:300912 | Mental retardation, X-linked 98 | | | | 52 | | |
HP:0040202 | HP:0001959 | Polydipsia | 2 | NLRP3 CL E G H | 114548 | 16400 | ORPHA:47045 | Familial cold urticaria | HP:0040283 - Occasional | | | 217 | | |
HP:0040202 | HP:0002591 | Polyphagia | 2 | NPAP1 CL E G H | 23742 | 1190 | OMIM:176270 | Prader-Willi syndrome | | | | 1 | | |
HP:0040202 | HP:0001959 | Polydipsia | 2 | NPHP1 CL E G H | 4867 | 7905 | OMIM:256100 | Nephronophthisis 1 | . | | | 85 | | |
HP:0040202 | HP:0001959 | Polydipsia | 2 | NPHP1 CL E G H | 4867 | 7905 | OMIM:266900 | Senior-Loken syndrome 1 | . | | | 85 | | |
HP:0040202 | HP:0001959 | Polydipsia | 2 | NPHP3 CL E G H | 27031 | 7907 | OMIM:604387 | Nephronophthisis 3 | . | | | 157 | | |
HP:0040202 | HP:0001959 | Polydipsia | 2 | NPHP4 CL E G H | 261734 | 19104 | OMIM:606966 | Nephronophthisis 4 | . | | | 220 | | |
HP:0040202 | HP:0001959 | Polydipsia | 2 | NPHP4 CL E G H | 261734 | 19104 | OMIM:606996 | Senior-Loken syndrome 4 | . | | | 220 | | |
HP:0040202 | HP:0002591 | Polyphagia | 2 | NTRK2 CL E G H | 4915 | 8032 | OMIM:613886 | Obesity, hyperphagia, and developmental delay | . | | | 8 | | |
HP:0040202 | HP:0002591 | Polyphagia | 2 | OCA2 CL E G H | 4948 | 8101 | ORPHA:98754 | Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 | HP:0040282 - Frequent | | | 121 | | |
HP:0040202 | HP:0100739 | Bulimia | 2 | OCA2 CL E G H | 4948 | 8101 | ORPHA:98754 | Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 | HP:0040283 - Occasional | | | 121 | | |
HP:0040202 | HP:0100739 | Bulimia | 2 | OCA2 CL E G H | 4948 | 8101 | ORPHA:177901 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 | HP:0040282 - Frequent | | | 121 | | |
HP:0040202 | HP:0002591 | Polyphagia | 2 | OCA2 CL E G H | 4948 | 8101 | ORPHA:177901 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 | HP:0040282 - Frequent | | | 121 | | |
HP:0040202 | HP:0100739 | Bulimia | 2 | OCA2 CL E G H | 4948 | 8101 | ORPHA:177904 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 | HP:0040283 - Occasional | | | 121 | | |
HP:0040202 | HP:0002591 | Polyphagia | 2 | OCA2 CL E G H | 4948 | 8101 | ORPHA:177904 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 | HP:0040281 - Very frequent | | | 121 | | |
HP:0040202 | HP:0001959 | Polydipsia | 2 | OTX2 CL E G H | 5015 | 8522 | ORPHA:3157 | Septo-optic dysplasia spectrum | HP:0040283 - Occasional | | | 41 | | |
HP:0040202 | HP:0012523 | Oral aversion | 2 | PACS1 CL E G H | 55690 | 30032 | ORPHA:329224 | Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome | HP:0040282 - Frequent | | | 24 | | |
HP:0040202 | HP:0002591 | Polyphagia | 2 | PCSK1 CL E G H | 5122 | 8743 | ORPHA:71528 | Obesity due to prohormone convertase I deficiency | HP:0040281 - Very frequent | | | 65 | | |
HP:0040202 | HP:0002591 | Polyphagia | 2 | PDPN CL E G H | 10630 | 29602 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040283 - Occasional | | | | | |
HP:0040202 | HP:0001959 | Polydipsia | 2 | PKHD1 CL E G H | 5314 | 9016 | ORPHA:731 | Autosomal recessive polycystic kidney disease | HP:0040283 - Occasional | | | 563 | | |
HP:0040202 | HP:0030842 | Choking episodes | 2 | PLA2G6 CL E G H | 8398 | 9039 | ORPHA:35069 | Infantile neuroaxonal dystrophy | HP:0040284 - Very rare | | | 133 | | |
HP:0040202 | HP:0002591 | Polyphagia | 2 | POMC CL E G H | 5443 | 9201 | ORPHA:71526 | Obesity due to pro-opiomelanocortin deficiency | HP:0040281 - Very frequent | | | 27 | | |
HP:0040202 | HP:0002591 | Polyphagia | 2 | POMC CL E G H | 5443 | 9201 | OMIM:609734 | Obesity, early-onset, with adrenal insufficiency and red hair | . | | | 27 | | |
HP:0040202 | HP:0002591 | Polyphagia | 2 | PRDM16 CL E G H | 63976 | 14000 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040283 - Occasional | | | 148 | | |
HP:0040202 | HP:0002591 | Polyphagia | 2 | PREPL CL E G H | 9581 | 30228 | ORPHA:163690 | Hypotonia-cystinuria syndrome | HP:0040281 - Very frequent | | | 7 | | |
HP:0040202 | HP:0002591 | Polyphagia | 2 | PRKCZ CL E G H | 5590 | 9412 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040283 - Occasional | | | | | |
HP:0040202 | HP:0001959 | Polydipsia | 2 | PROKR2 CL E G H | 128674 | 15836 | ORPHA:3157 | Septo-optic dysplasia spectrum | HP:0040283 - Occasional | | | 34 | | |
HP:0040202 | HP:0002591 | Polyphagia | 2 | PSEN1 CL E G H | 5663 | 9508 | OMIM:600274 | Frontotemporal dementia | . | | | 241 | | |
HP:0040202 | HP:0002591 | Polyphagia | 2 | PSEN1 CL E G H | 5663 | 9508 | OMIM:172700 | Pick disease of brain | . | | | 241 | | |
HP:0040202 | HP:0001959 | Polydipsia | 2 | PTPN22 CL E G H | 26191 | 9652 | OMIM:222100 | Diabetes mellitus, insulin-dependent-1 | . | | | 3 | | |
HP:0040202 | HP:0002591 | Polyphagia | 2 | PTPN22 CL E G H | 26191 | 9652 | OMIM:222100 | Diabetes mellitus, insulin-dependent-1 | . | | | 3 | | |
HP:0040202 | HP:0002591 | Polyphagia | 2 | PWAR1 CL E G H | 145624 | 30089 | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0040202 | HP:0002591 | Polyphagia | 2 | PWRN1 CL E G H | 791114 | 33235 | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0040202 | HP:0002591 | Polyphagia | 2 | RERE CL E G H | 473 | 9965 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040283 - Occasional | | | 16 | | |
HP:0040202 | HP:0002591 | Polyphagia | 2 | SATB2 CL E G H | 23314 | 21637 | ORPHA:251028 | SATB2-associated syndrome due to a chromosomal rearrangement | HP:0040283 - Occasional | | | 34 | | |
HP:0040202 | HP:0030842 | Choking episodes | 2 | SCN4A CL E G H | 6329 | 10591 | ORPHA:99734 | Myotonia fluctuans | HP:0040284 - Very rare | | | 263 | | |
HP:0040202 | HP:0002591 | Polyphagia | 2 | SETD2 CL E G H | 29072 | 18420 | OMIM:616831 | Luscan-Lumish syndrome | . | | | 60 | | |
HP:0040202 | HP:0002591 | Polyphagia | 2 | SH2B1 CL E G H | 25970 | 30417 | ORPHA:329249 | Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency | HP:0040281 - Very frequent | | | | | |
HP:0040202 | HP:0002591 | Polyphagia | 2 | SIM1 CL E G H | 6492 | 10882 | ORPHA:171829 | 6q16 microdeletion syndrome | HP:0040282 - Frequent | | | 40 | | |
HP:0040202 | HP:0002591 | Polyphagia | 2 | SIM1 CL E G H | 6492 | 10882 | ORPHA:369873 | Obesity due to SIM1 deficiency | HP:0040281 - Very frequent | | | 40 | | |
HP:0040202 | HP:0002591 | Polyphagia | 2 | SIM1 CL E G H | 6492 | 10882 | ORPHA:398079 | SIM1-related Prader-Willi-like syndrome | HP:0040282 - Frequent | | | 40 | | |
HP:0040202 | HP:0002591 | Polyphagia | 2 | SKI CL E G H | 6497 | 10896 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040283 - Occasional | | | 150 | | |
HP:0040202 | HP:0030083 | Salt craving | 2 | SLC12A3 CL E G H | 6559 | 10912 | OMIM:263800 | Gitelman syndrome | | | | 145 | | |
HP:0040202 | HP:0001959 | Polydipsia | 2 | SLC12A3 CL E G H | 6559 | 10912 | ORPHA:358 | Gitelman syndrome | HP:0040284 - Very rare | | | 145 | | |
HP:0040202 | HP:0001959 | Polydipsia | 2 | SLC12A3 CL E G H | 6559 | 10912 | OMIM:263800 | Gitelman syndrome | | | | 145 | | |
HP:0040202 | HP:0030083 | Salt craving | 2 | SLC12A3 CL E G H | 6559 | 10912 | ORPHA:358 | Gitelman syndrome | HP:0040283 - Occasional | | | 145 | | |
HP:0040202 | HP:0030842 | Choking episodes | 2 | SLC18A3 CL E G H | 6572 | 10936 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040282 - Frequent | | | 2 | | |
HP:0040202 | HP:0030842 | Choking episodes | 2 | SLC25A1 CL E G H | 6576 | 10979 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040282 - Frequent | | | 28 | | |
HP:0040202 | HP:0030842 | Choking episodes | 2 | SLC2A3 CL E G H | 6515 | 11007 | ORPHA:399 | Huntington disease | HP:0040283 - Occasional | | | 1 | | |
HP:0040202 | HP:0002591 | Polyphagia | 2 | SLC2A3 CL E G H | 6515 | 11007 | ORPHA:399 | Huntington disease | HP:0040283 - Occasional | | | 1 | | |
HP:0040202 | HP:0002591 | Polyphagia | 2 | SLC3A1 CL E G H | 6519 | 11025 | ORPHA:163690 | Hypotonia-cystinuria syndrome | HP:0040281 - Very frequent | | | 55 | | |
HP:0040202 | HP:0001959 | Polydipsia | 2 | SLC41A1 CL E G H | 254428 | 19429 | OMIM:619468 | NEPHRONOPHTHISIS-LIKE NEPHROPATHY 2; NPHPL2 | | | | | | |
HP:0040202 | HP:0002591 | Polyphagia | 2 | SLC5A2 CL E G H | 6524 | 11037 | OMIM:233100 | Renal glucosuria | . | | | 41 | | |
HP:0040202 | HP:0001959 | Polydipsia | 2 | SLC5A2 CL E G H | 6524 | 11037 | OMIM:233100 | Renal glucosuria | . | | | 41 | | |
HP:0040202 | HP:0030842 | Choking episodes | 2 | SLC5A7 CL E G H | 60482 | 14025 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040282 - Frequent | | | 9 | | |
HP:0040202 | HP:0012523 | Oral aversion | 2 | SLC7A7 CL E G H | 9056 | 11065 | ORPHA:470 | Lysinuric protein intolerance | HP:0040282 - Frequent | | | 104 | | |
HP:0040202 | HP:0012523 | Oral aversion | 2 | SMARCA4 CL E G H | 6597 | 11100 | ORPHA:1465 | Coffin-Siris syndrome | HP:0040283 - Occasional | | | 617 | | |
HP:0040202 | HP:0012523 | Oral aversion | 2 | SMARCB1 CL E G H | 6598 | 11103 | ORPHA:1465 | Coffin-Siris syndrome | HP:0040283 - Occasional | | | 87 | | |
HP:0040202 | HP:0012523 | Oral aversion | 2 | SMARCC2 CL E G H | 6601 | 11105 | ORPHA:1465 | Coffin-Siris syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0040202 | HP:0012523 | Oral aversion | 2 | SMARCD1 CL E G H | 6602 | 11106 | ORPHA:1465 | Coffin-Siris syndrome | HP:0040283 - Occasional | | | | | |
HP:0040202 | HP:0012523 | Oral aversion | 2 | SMARCE1 CL E G H | 6605 | 11109 | ORPHA:1465 | Coffin-Siris syndrome | HP:0040283 - Occasional | | | 47 | | |
HP:0040202 | HP:0030842 | Choking episodes | 2 | SNAP25 CL E G H | 6616 | 11132 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040282 - Frequent | | | 2 | | |
HP:0040202 | HP:0002591 | Polyphagia | 2 | SNORD115-1 CL E G H | 338433 | 33020 | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0040202 | HP:0002591 | Polyphagia | 2 | SNORD116-1 CL E G H | 100033413 | 33067 | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0040202 | HP:0002591 | Polyphagia | 2 | SNRPN CL E G H | 6638 | 11164 | ORPHA:411515 | Angelman syndrome due to imprinting defect in 15q11-q13 | HP:0040282 - Frequent | | | 37 | | |
HP:0040202 | HP:0002591 | Polyphagia | 2 | SNRPN CL E G H | 6638 | 11164 | ORPHA:177910 | Prader-Willi syndrome due to imprinting mutation | HP:0040282 - Frequent | | | 37 | | |
HP:0040202 | HP:0002591 | Polyphagia | 2 | SNRPN CL E G H | 6638 | 11164 | ORPHA:98754 | Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 | HP:0040282 - Frequent | | | 37 | | |
HP:0040202 | HP:0100739 | Bulimia | 2 | SNRPN CL E G H | 6638 | 11164 | ORPHA:98754 | Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 | HP:0040283 - Occasional | | | 37 | | |
HP:0040202 | HP:0100739 | Bulimia | 2 | SNRPN CL E G H | 6638 | 11164 | ORPHA:177901 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 | HP:0040282 - Frequent | | | 37 | | |
HP:0040202 | HP:0002591 | Polyphagia | 2 | SNRPN CL E G H | 6638 | 11164 | ORPHA:177901 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 | HP:0040282 - Frequent | | | 37 | | |
HP:0040202 | HP:0100739 | Bulimia | 2 | SNRPN CL E G H | 6638 | 11164 | ORPHA:177904 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 | HP:0040283 - Occasional | | | 37 | | |
HP:0040202 | HP:0002591 | Polyphagia | 2 | SNRPN CL E G H | 6638 | 11164 | ORPHA:177904 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 | HP:0040281 - Very frequent | | | 37 | | |
HP:0040202 | HP:0012523 | Oral aversion | 2 | SOX11 CL E G H | 6664 | 11191 | ORPHA:1465 | Coffin-Siris syndrome | HP:0040283 - Occasional | | | 14 | | |
HP:0040202 | HP:0001959 | Polydipsia | 2 | SOX2 CL E G H | 6657 | 11195 | ORPHA:3157 | Septo-optic dysplasia spectrum | HP:0040283 - Occasional | | | 33 | | |
HP:0040202 | HP:0001959 | Polydipsia | 2 | SOX3 CL E G H | 6658 | 11199 | ORPHA:3157 | Septo-optic dysplasia spectrum | HP:0040283 - Occasional | | | 24 | | |
HP:0040202 | HP:0012523 | Oral aversion | 2 | SOX4 CL E G H | 6659 | 11200 | ORPHA:1465 | Coffin-Siris syndrome | HP:0040283 - Occasional | | | | | |
HP:0040202 | HP:0002591 | Polyphagia | 2 | SPEN CL E G H | 23013 | 17575 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040283 - Occasional | | | 4 | | |
HP:0040202 | HP:0030842 | Choking episodes | 2 | SYT2 CL E G H | 127833 | 11510 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040282 - Frequent | | | 4 | | |
HP:0040202 | HP:0001959 | Polydipsia | 2 | TMEM67 CL E G H | 91147 | 28396 | OMIM:613550 | NEPHRONOPHTHISIS 11; NPHP11 | | | | 166 | | |
HP:0040202 | HP:0001959 | Polydipsia | 2 | TMEM67 CL E G H | 91147 | 28396 | ORPHA:84081 | Senior-Boichis syndrome | | | | 166 | | |
HP:0040202 | HP:0002591 | Polyphagia | 2 | UBE3A CL E G H | 7337 | 12496 | ORPHA:411515 | Angelman syndrome due to imprinting defect in 15q11-q13 | HP:0040282 - Frequent | | | 278 | | |
HP:0040202 | HP:0002591 | Polyphagia | 2 | UBE4B CL E G H | 10277 | 12500 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040283 - Occasional | | | | | |
HP:0040202 | HP:0002591 | Polyphagia | 2 | UCP2 CL E G H | 7351 | 12518 | ORPHA:276556 | Hyperinsulinism due to UCP2 deficiency | HP:0040283 - Occasional | | | 15 | | |
HP:0040202 | HP:0030842 | Choking episodes | 2 | VAMP1 CL E G H | 6843 | 12642 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040282 - Frequent | | | 2 | | |
HP:0040202 | HP:0001959 | Polydipsia | 2 | WFS1 CL E G H | 7466 | 12762 | ORPHA:3463 | Wolfram syndrome | HP:0040281 - Very frequent | | | 389 | | |
HP:0040202 | HP:0002591 | Polyphagia | 2 | YY1 CL E G H | 7528 | 12856 | ORPHA:97279 | Insulinoma | HP:0040282 - Frequent | | | 7 | | |
HP:0040202 | HP:0030842 | Choking episodes | 2 | ZNF699 CL E G H | 374879 | 24750 | OMIM:619488 | DEGCAGS SYNDROME; DEGCAGS | | | | | | |
HP:0040202 | HP:0025062 | Geophagia | 3 | CL E G H | | | | | | | | | | |