TADeus2


Hi-C map
Virtual 4C FOXG1
Virtual 4C BMP6
Validated enhancers
pLI score

Left breakpoint
Right breakpoint

Gene symbol	pLI	ClinGen	ClinGen score	Phenotype score	Distance from breakpoints	Distance from breakpoints score (distance below 1Mb)	Total pathogenicity score	Phenotype information
MECR	0.0000		0	1	769,058	1	2	HP:0001251 - Ataxia HP:0000007 - Autosomal recessive inheritance HP:0002072 - Chorea HP:0012179 - Craniofacial dystonia OMIM:617282 - DYSTONIA, CHILDHOOD-ONSET, WITH OPTIC ATROPHY AND BASAL GANGLIA ABNORMALITIES; DYTOABG HP:0001260 - Dysarthria HP:0100660 - Dyskinesia HP:0002015 - Dysphagia HP:0001288 - Gait disturbance HP:0001347 - Hyperreflexia HP:0001270 - Motor delay HP:0001336 - Myoclonus HP:0000639 - Nystagmus HP:0000648 - Optic atrophy HP:0003676 - Progressive HP:0001257 - Spasticity HP:0003828 - Variable expressivity HP:0000505 - Visual impairment
SDC3	0.4146		0	1	869,466	1	2	HP:0000006 - Autosomal dominant inheritance HP:0000007 - Autosomal recessive inheritance HP:0012340 - Decreased resting energy expenditure HP:0031819 - Increased waist to hip ratio HP:0001513 - Obesity HP:0010982 - Polygenic inheritance
EPB41	0.0000		0	1	879,954	1	2	HP:0002027 - Abdominal pain HP:0000006 - Autosomal dominant inheritance HP:0000007 - Autosomal recessive inheritance HP:0025143 - Chills HP:0001081 - Cholelithiasis HP:0004804 - Congenital hemolytic anemia OMIM:611804 - ELLIPTOCYTOSIS 1; EL1 HP:0004445 - Elliptocytosis HP:0001945 - Fever HP:0002007 - Frontal bossing HP:0001878 - Hemolytic anemia HP:0001789 - Hydrops fetalis HP:0005502 - Increased red cell osmotic fragility HP:0000952 - Jaundice HP:0003265 - Neonatal hyperbilirubinemia HP:0000980 - Pallor HP:0008897 - Postnatal growth retardation HP:0006579 - Prolonged neonatal jaundice HP:0001923 - Reticulocytosis HP:0001744 - Splenomegaly HP:0004446 - Stomatocytosis
PUM1	1.0000		0	1	931,506	1	2	HP:0001999 - Abnormal facial shape HP:0000006 - Autosomal dominant inheritance HP:0006855 - Cerebellar vermis atrophy HP:0002072 - Chorea HP:0030084 - Clinodactyly HP:0000750 - Delayed speech and language development HP:0000651 - Diplopia HP:0001260 - Dysarthria HP:0001310 - Dysmetria HP:0001290 - Generalized hypotonia HP:0000218 - High palate HP:0003829 - Incomplete penetrance HP:0001249 - Intellectual disability HP:0000369 - Low-set ears HP:0001270 - Motor delay HP:0000341 - Narrow forehead HP:0003676 - Progressive HP:0000508 - Ptosis HP:0001250 - Seizure HP:0004322 - Short stature HP:0200055 - Small hand HP:0001257 - Spasticity HP:0001182 - Tapered finger HP:0000431 - Wide nasal bridge
AHDC1	1.0000	3	1	1	2,395,569	0	2	HP:0001999 - Abnormal facial shape HP:0001251 - Ataxia HP:0000717 - Autism HP:0000006 - Autosomal dominant inheritance HP:0100704 - Cerebral visual impairment HP:0001363 - Craniosynostosis HP:0000490 - Deeply set eye HP:0031936 - Delayed ability to walk HP:0012448 - Delayed myelination HP:0005280 - Depressed nasal bridge HP:0000494 - Downslanted palpebral fissures HP:0002353 - EEG abnormality HP:0000565 - Esotropia HP:0002474 - Expressive language delay HP:0001508 - Failure to thrive HP:0011968 - Feeding difficulties HP:0001290 - Generalized hypotonia HP:0001263 - Global developmental delay HP:0000365 - Hearing impairment HP:0000316 - Hypertelorism HP:0002079 - Hypoplasia of the corpus callosum HP:0001252 - Hypotonia HP:0001249 - Intellectual disability HP:0001388 - Joint laxity HP:0001601 - Laryngomalacia HP:0000369 - Low-set ears HP:0000347 - Micrognathia HP:0025573 - Mild myopia HP:0002870 - Obstructive sleep apnea HP:0000411 - Protruding ear HP:0004887 - Respiratory failure requiring assisted ventilation HP:0006951 - Retrocerebellar cyst HP:0002650 - Scoliosis HP:0001250 - Seizure HP:0009879 - Simplified gyral pattern HP:0000385 - Small earlobe HP:0025267 - Snoring HP:0002779 - Tracheomalacia HP:0011477 - Upbeat nystagmus HP:0009909 - Uplifted earlobe HP:0002781 - Upper airway obstruction HP:0000582 - Upslanted palpebral fissure OMIM:615829 - XIA-GIBBS SYNDROME
LINC01648			0	0	13,952	1	1	No associated phenotypes
LINC01756			0	0	649,886	1	1	No associated phenotypes
PTPRU	0.3925		0	0	673,187	1	1	No associated phenotypes
MATN1	0.0026		0	0	711,277	1	1	No associated phenotypes
MATN1-AS1			0	0	718,504	1	1	No associated phenotypes
LAPTM5	0.9004		0	0	732,469	1	1	No associated phenotypes
MIR4420			0	0	739,156	1	1	No associated phenotypes
SRSF4	0.8672		0	0	818,100	1	1	No associated phenotypes
LINC01778			0	0	824,217	1	1	No associated phenotypes
RN7SKP91			0	0	843,823	1	1	No associated phenotypes
TMEM200B	0.0018		0	0	876,097	1	1	No associated phenotypes
RN7SL371P			0	0	918,469	1	1	No associated phenotypes
CCDC28B	0.0000		0	1	2,200,595	0	1	HP:0012743 - Abdominal obesity HP:0000077 - Abnormality of the kidney HP:0000137 - Abnormality of the ovary HP:0002251 - Aganglionic megacolon HP:0012393 - Allergy HP:0002099 - Asthma HP:0000483 - Astigmatism HP:0001251 - Ataxia HP:0007843 - Attenuation of retinal blood vessels HP:0000007 - Autosomal recessive inheritance HP:0001080 - Biliary tract abnormality HP:0001156 - Brachydactyly HP:0001769 - Broad foot HP:0000518 - Cataract HP:0008734 - Decreased testicular size HP:0000750 - Delayed speech and language development HP:0000678 - Dental crowding HP:0000819 - Diabetes mellitus HP:0001829 - Foot polydactyly HP:0002141 - Gait imbalance HP:0000501 - Glaucoma HP:0001263 - Global developmental delay HP:0000365 - Hearing impairment HP:0001395 - Hepatic fibrosis HP:0000218 - High palate HP:0002705 - High, narrow palate HP:0001007 - Hirsutism HP:0030631 - Hyperautofluorescent macular lesion HP:0000822 - Hypertension HP:0000668 - Hypodontia HP:0000135 - Hypogonadism HP:0000855 - Insulin resistance HP:0001249 - Intellectual disability HP:0001712 - Left ventricular hypertrophy HP:0000256 - Macrocephaly HP:0000054 - Micropenis HP:0000545 - Myopia HP:0009806 - Nephrogenic diabetes insipidus HP:0000639 - Nystagmus HP:0001513 - Obesity HP:0002370 - Poor coordination HP:0001162 - Postaxial hand polydactyly HP:0009466 - Radial deviation of finger HP:0007663 - Reduced visual acuity HP:0000546 - Retinal degeneration HP:0000556 - Retinal dystrophy HP:0000510 - Rod-cone dystrophy HP:0001773 - Short foot HP:0001328 - Specific learning disability HP:0000486 - Strabismus HP:0001159 - Syndactyly HP:0001956 - Truncal obesity HP:0000148 - Vaginal atresia
LCK	0.9993		0	1	2,251,239	0	1	HP:0002960 - Autoimmunity HP:0000007 - Autosomal recessive inheritance HP:0005407 - Decreased proportion of CD4-positive helper T cells HP:0002014 - Diarrhea HP:0001508 - Failure to thrive OMIM:615758 - IMMUNODEFICIENCY 22; IMD22 HP:0002721 - Immunodeficiency HP:0003593 - Infantile onset HP:0012490 - Panniculitis HP:0002205 - Recurrent respiratory infections
FCN3	0.0038		0	1	2,625,176	0	1	HP:0000007 - Autosomal recessive inheritance OMIM:613860 - FICOLIN 3 DEFICIENCY HP:0033165 - Necrotizing enterocolitis HP:0002726 - Recurrent Staphylococcus aureus infections HP:0002722 - Recurrent abscess formation HP:0002783 - Recurrent lower respiratory tract infections HP:0200043 - Verrucae
YARS1	0.0010		0	1	2,775,237	0	1	HP:0001760 - Abnormal foot morphology HP:0001747 - Accessory spleen HP:0001274 - Agenesis of corpus callosum HP:0001903 - Anemia HP:0000006 - Autosomal dominant inheritance HP:0000007 - Autosomal recessive inheritance HP:0003450 - Axonal regeneration HP:0008619 - Bilateral sensorineural hearing impairment HP:0002611 - Cholestatic liver disease HP:0001133 - Constriction of peripheral visual field HP:0000490 - Deeply set eye HP:0002194 - Delayed gross motor development HP:0005280 - Depressed nasal bridge HP:0003693 - Distal amyotrophy HP:0002460 - Distal muscle weakness HP:0002936 - Distal sensory impairment HP:0000286 - Epicanthus HP:0001738 - Exocrine pancreatic insufficiency HP:0002474 - Expressive language delay HP:0001531 - Failure to thrive in infancy HP:0000293 - Full cheeks HP:0002197 - Generalized-onset seizure HP:0001510 - Growth delay HP:0002240 - Hepatomegaly HP:0001425 - Heterogeneous HP:0000218 - High palate HP:0002155 - Hypertriglyceridemia HP:0002079 - Hypoplasia of the corpus callosum HP:0001252 - Hypotonia HP:0002151 - Increased serum lactate HP:0011232 - Infra-orbital fold HP:0001382 - Joint hypermobility HP:0002716 - Lymphadenopathy HP:0006577 - Macronodular cirrhosis HP:0007401 - Macular atrophy HP:0000252 - Microcephaly HP:0000308 - Microretrognathia HP:0001414 - Microvesicular hepatic steatosis HP:0005948 - Multiple pulmonary cysts HP:0001998 - Neonatal hypoglycemia HP:0000662 - Nyctalopia HP:0000639 - Nystagmus HP:0001748 - Polysplenia HP:0001622 - Premature birth HP:0000786 - Primary amenorrhea HP:0012715 - Profound hearing impairment HP:0006579 - Prolonged neonatal jaundice HP:0100806 - Sepsis HP:0001744 - Splenomegaly HP:0033454 - Tube feeding HP:0003484 - Upper limb muscle weakness HP:0001629 - Ventricular septal defect HP:0002119 - Ventriculomegaly HP:0002013 - Vomiting HP:0030319 - Weakness of facial musculature HP:0000431 - Wide nasal bridge
SLC9A1	0.7905		0	1	2,833,019	0	1	HP:0002345 - Action tremor HP:0000007 - Autosomal recessive inheritance HP:0001272 - Cerebellar atrophy HP:0001260 - Dysarthria HP:0002075 - Dysdiadochokinesis HP:0001310 - Dysmetria HP:0002066 - Gait ataxia OMIM:616291 - LICHTENSTEIN-KNORR SYNDROME; LIKNS HP:0002070 - Limb ataxia HP:0001270 - Motor delay HP:0000639 - Nystagmus HP:0003676 - Progressive HP:0004322 - Short stature
HPCA	0.6783		0	1	2,885,994	0	1	HP:0000007 - Autosomal recessive inheritance HP:0000643 - Blepharospasm OMIM:224500 - DYSTONIA 2, TORSION, AUTOSOMAL RECESSIVE; DYT2 HP:0002355 - Difficulty walking HP:0001260 - Dysarthria HP:0002015 - Dysphagia HP:0011968 - Feeding difficulties HP:0007325 - Generalized dystonia HP:0003621 - Juvenile onset HP:0002451 - Limb dystonia HP:0003677 - Slowly progressive HP:0001304 - Torsion dystonia HP:0000473 - Torticollis HP:0001337 - Tremor
SELENOWP1			0	0	1,094,987	0	0	No associated phenotypes
OPRD1	0.0033		0	0	1,128,733	0	0	No associated phenotypes
NKAIN1	0.2468		0	0	1,179,745	0	0	No associated phenotypes
YTHDF2	0.9994		0	0	1,230,225	0	0	No associated phenotypes
SNRNP40	0.8527		0	0	1,259,568	0	0	No associated phenotypes
GMEB1	0.9855		0	0	1,280,647	0	0	No associated phenotypes
ZCCHC17	0.0053		0	0	1,296,982	0	0	No associated phenotypes
RNU11			0	0	1,351,267	0	0	No associated phenotypes
LINC01715			0	0	1,351,419	0	0	No associated phenotypes
TAF12	0.9501		0	0	1,356,915	0	0	No associated phenotypes
FABP3	0.4433		0	0	1,365,253	0	0	No associated phenotypes
RAB42	0.0030		0	0	1,404,551	0	0	No associated phenotypes
SERINC2	0.0000		0	0	1,409,565	0	0	No associated phenotypes
SNHG12			0	0	1,416,868	0	0	No associated phenotypes
SNORA16A			0	0	1,418,944	0	0	No associated phenotypes
SNORA44			0	0	1,419,488	0	0	No associated phenotypes
SNORA61			0	0	1,420,107	0	0	No associated phenotypes
SNORD99			0	0	1,421,178	0	0	No associated phenotypes
TRNAU1AP	0.0002		0	0	1,421,455	0	0	No associated phenotypes
RCC1	0.9311		0	0	1,460,700	0	0	No associated phenotypes
PRDX3P2			0	0	1,472,773	0	0	No associated phenotypes
SNHG3			0	0	1,489,108	0	0	No associated phenotypes
SNORA73B			0	0	1,491,238	0	0	No associated phenotypes
SNORA73A			0	0	1,492,429	0	0	No associated phenotypes
RNU6-40P			0	0	1,497,577	0	0	No associated phenotypes
PHACTR4	0.0000		0	0	1,499,636	0	0	No associated phenotypes
LDC1P			0	0	1,500,085	0	0	No associated phenotypes
LINC01226			0	0	1,506,226	0	0	No associated phenotypes
RNU6ATAC27P			0	0	1,518,520	0	0	No associated phenotypes
TINAGL1	0.0003		0	0	1,576,485	0	0	No associated phenotypes
HCRTR1	0.0002		0	0	1,617,686	0	0	No associated phenotypes
PEF1	0.0002		0	0	1,629,866	0	0	No associated phenotypes
PEF1-AS1			0	0	1,644,049	0	0	No associated phenotypes
COL16A1	0.0000	40	0	0	1,652,263	0	0	No associated phenotypes
MED18	0.0002		0	0	1,664,035	0	0	No associated phenotypes
SESN2	0.0000		0	0	1,717,509	0	0	No associated phenotypes
ADGRB2	0.9998		0	0	1,727,117	0	0	No associated phenotypes
ATP5IF1	0.0001		0	0	1,753,094	0	0	No associated phenotypes
MIR4254			0	0	1,758,660	0	0	No associated phenotypes
DNAJC8	0.0510		0	0	1,766,971	0	0	No associated phenotypes
SPOCD1	0.0000		0	0	1,790,422	0	0	No associated phenotypes
PTAFR	0.2423		0	0	1,806,064	0	0	No associated phenotypes
RNU6-176P			0	0	1,857,159	0	0	No associated phenotypes
SPCS2P4			0	0	1,903,578	0	0	No associated phenotypes
PTP4A2	0.9663		0	0	1,906,421	0	0	No associated phenotypes
EYA3	0.9970		0	0	1,911,363	0	0	No associated phenotypes
RN7SL559P			0	0	1,967,820	0	0	No associated phenotypes
KHDRBS1	0.9942		0	0	2,013,868	0	0	No associated phenotypes
XKR8	0.0000		0	0	2,031,907	0	0	No associated phenotypes
SMPDL3B	0.0000		0	0	2,040,843	0	0	No associated phenotypes
TMEM39B	0.0065		0	0	2,072,031	0	0	No associated phenotypes
RPA2	0.5046		0	0	2,085,254	0	0	No associated phenotypes
MIR5585			0	0	2,086,949	0	0	No associated phenotypes
KPNA6	0.9994		0	0	2,108,056	0	0	No associated phenotypes
THEMIS2	0.0020		0	0	2,113,315	0	0	No associated phenotypes
PPP1R8	0.9879		0	0	2,148,324	0	0	No associated phenotypes
SCARNA1			0	0	2,165,434	0	0	No associated phenotypes
RNU6-1245P			0	0	2,175,357	0	0	No associated phenotypes
STX12	0.9562		0	0	2,175,557	0	0	No associated phenotypes
TXLNA	0.9973		0	0	2,179,675	0	0	No associated phenotypes
IQCC	0.0000		0	0	2,205,671	0	0	No associated phenotypes
DCDC2B	0.0000		0	0	2,209,089	0	0	No associated phenotypes
TMEM234	0.0000		0	0	2,214,472	0	0	No associated phenotypes
EIF3I	0.9493		0	0	2,221,077	0	0	No associated phenotypes
MTMR9LP			0	0	2,231,658	0	0	No associated phenotypes
FAM76A	0.0000		0	0	2,236,884	0	0	No associated phenotypes
FAM167B	0.0008		0	0	2,247,222	0	0	No associated phenotypes
RPEP3			0	0	2,259,371	0	0	No associated phenotypes
HDAC1	0.6143		0	0	2,292,083	0	0	No associated phenotypes
RNU6-424P			0	0	2,306,165	0	0	No associated phenotypes
CHMP1AP1			0	0	2,312,529	0	0	No associated phenotypes
RNU6-949P			0	0	2,324,291	0	0	No associated phenotypes
IFI6	0.0137		0	0	2,327,788	0	0	No associated phenotypes
LINC02574			0	0	2,333,721	0	0	No associated phenotypes
MARCKSL1	0.0143		0	0	2,333,839	0	0	No associated phenotypes
TSSK3	0.0570		0	0	2,351,521	0	0	No associated phenotypes
FAM229A	0.0809		0	0	2,361,270	0	0	No associated phenotypes
BSDC1	0.0241		0	0	2,364,633	0	0	No associated phenotypes
FGR	0.4841		0	0	2,364,815	0	0	No associated phenotypes
GAPDHP20			0	0	2,402,109	0	0	No associated phenotypes
LRRC37A12P			0	0	2,423,214	0	0	No associated phenotypes
RN7SL122P			0	0	2,457,835	0	0	No associated phenotypes
ZBTB8B	0.0013		0	0	2,465,072	0	0	No associated phenotypes
WASF2	0.9757		0	0	2,509,833	0	0	No associated phenotypes
ZBTB8A	0.0043		0	0	2,539,427	0	0	No associated phenotypes
ZBTB8OS	0.7054		0	0	2,600,172	0	0	No associated phenotypes
GPR3	0.0003		0	0	2,604,186	0	0	No associated phenotypes
CD164L2	0.0000		0	0	2,616,667	0	0	No associated phenotypes
MAP3K6	0.0000		0	0	2,633,039	0	0	No associated phenotypes
SYTL1	0.0000		0	0	2,646,063	0	0	No associated phenotypes
RBBP4	0.9957		0	0	2,651,142	0	0	No associated phenotypes
TMEM222	0.0000		0	0	2,663,600	0	0	No associated phenotypes
ACTG1P20			0	0	2,674,204	0	0	No associated phenotypes
RNU6-48P			0	0	2,674,675	0	0	No associated phenotypes
SYNC	0.0000		0	0	2,679,906	0	0	No associated phenotypes
WDTC1	0.9992		0	0	2,691,364	0	0	No associated phenotypes
KIAA1522	0.0269		0	0	2,741,830	0	0	No associated phenotypes
SNRPEP7			0	0	2,788,516	0	0	No associated phenotypes
NPM1P39			0	0	2,792,204	0	0	No associated phenotypes
CHCHD3P3			0	0	2,798,527	0	0	No associated phenotypes
S100PBP	0.9451		0	0	2,816,767	0	0	No associated phenotypes
FNDC5	0.5458		0	0	2,862,268	0	0	No associated phenotypes
TMEM54	0.0031		0	0	2,894,594	0	0	No associated phenotypes
RNF19B	0.9237		0	0	2,936,445	0	0	No associated phenotypes
			0	0	2,987,075	0	0	No associated phenotypes
TENT5B	0.1826		0	0	2,987,150	0	0	No associated phenotypes
TRNP1	0.3788		0	0	2,999,114	0	0	No associated phenotypes

Gene symbol	pLI	ClinGen	Enhancer- promoter interactions number	Enhancer- promoter interactions score	Phenotype score	Distance from breakpoints	Distance from breakpoints score (distance below 1Mb)	Total pathogenicity score	Phenotype information
THUMPD2	0.0000		7	1	0	220,733	1	2	No associated phenotypes
SOS1	1.0000	0	0	0	1	875,655	1	2	HP:0001892 - Abnormal bleeding HP:0007477 - Abnormal dermatoglyphics HP:0011362 - Abnormal hair quantity HP:0011869 - Abnormal platelet function HP:0001641 - Abnormal pulmonary valve morphology HP:0001928 - Abnormality of coagulation HP:0001743 - Abnormality of the spleen HP:0011381 - Aplasia of the semicircular canal HP:0010318 - Aplasia/Hypoplasia of the abdominal wall musculature HP:0011675 - Arrhythmia HP:0001631 - Atrial septal defect HP:0000006 - Autosomal dominant inheritance HP:0001488 - Bilateral ptosis HP:0000635 - Blue irides HP:0001156 - Brachydactyly HP:0000978 - Bruising susceptibility HP:0004209 - Clinodactyly of the 5th finger HP:0002208 - Coarse hair HP:0000028 - Cryptorchidism HP:0002967 - Cubitus valgus HP:0002212 - Curly hair HP:0000476 - Cystic hygroma HP:0002750 - Delayed skeletal maturation HP:0000689 - Dental malocclusion HP:0005280 - Depressed nasal bridge HP:0000494 - Downslanted palpebral fissures HP:0001260 - Dysarthria HP:0100625 - Enlarged thorax HP:0000286 - Epicanthus OMIM:135300 - FIBROMATOSIS, GINGIVAL, 1; GINGF1 HP:0008872 - Feeding difficulties in infancy HP:0011461 - Fetal onset HP:0000169 - Gingival fibromatosis HP:0000212 - Gingival overgrowth HP:0002240 - Hepatomegaly HP:0009890 - High anterior hairline HP:0000348 - High forehead HP:0000218 - High palate HP:0000126 - Hydronephrosis HP:0000316 - Hypertelorism HP:0001639 - Hypertrophic cardiomyopathy HP:0000044 - Hypogonadotropic hypogonadism HP:0001252 - Hypotonia HP:0001249 - Intellectual disability HP:0005692 - Joint hyperflexibility HP:0032152 - Keratosis pilaris HP:0001520 - Large for gestational age HP:0002162 - Low posterior hairline HP:0000369 - Low-set ears HP:0000368 - Low-set, posteriorly rotated ears HP:0001004 - Lymphedema HP:0000256 - Macrocephaly HP:0000995 - Melanocytic nevus HP:0000347 - Micrognathia HP:0011800 - Midface retrusion HP:0001324 - Muscle weakness OMIM:610733 - NOONAN SYNDROME 4; NS4 HP:0000639 - Nystagmus HP:0000768 - Pectus carinatum HP:0000767 - Pectus excavatum HP:0000915 - Pectus excavatum of inferior sternum HP:0001561 - Polyhydramnios HP:0000358 - Posteriorly rotated ears HP:0003645 - Prolonged partial thromboplastin time HP:0000520 - Proptosis HP:0000508 - Ptosis HP:0004415 - Pulmonary artery stenosis HP:0001642 - Pulmonic stenosis HP:0002974 - Radioulnar synostosis HP:0003125 - Reduced factor VIII activity HP:0001929 - Reduced factor XI activity HP:0002650 - Scoliosis HP:0000407 - Sensorineural hearing impairment HP:0000470 - Short neck HP:0004322 - Short stature HP:0045075 - Sparse eyebrow HP:0000486 - Strabismus HP:0000179 - Thick lower lip vermilion HP:0012471 - Thick vermilion border HP:0000391 - Thickened helices HP:0000474 - Thickened nuchal skin fold HP:0001873 - Thrombocytopenia HP:0000325 - Triangular face HP:0000073 - Ureteral duplication HP:0001629 - Ventricular septal defect HP:0000465 - Webbed neck HP:0006610 - Wide intermamillary distance HP:0000154 - Wide mouth
SLC8A1	0.9957		0	0	0	97,270	1	1	No associated phenotypes
SLC8A1-AS1			0	0	0	213,547	1	1	No associated phenotypes
TMEM178A	0.6695		0	0	0	282,037	1	1	No associated phenotypes
MAP4K3-DT			0	0	0	334,657	1	1	No associated phenotypes
MAP4K3	0.1099		0	0	0	562,699	1	1	No associated phenotypes
LINC01794			0	0	0	746,481	1	1	No associated phenotypes
CDKL4	0.0000		0	0	0	770,412	1	1	No associated phenotypes
HSPE1P13			0	0	0	901,555	1	1	No associated phenotypes
RNU6-198P			0	0	0	917,308	1	1	No associated phenotypes
GALM	0.0000		0	0	1	1,258,763	0	1	HP:0012379 - Abnormal enzyme/coenzyme activity HP:0000707 - Abnormality of the nervous system HP:0000007 - Autosomal recessive inheritance HP:0000518 - Cataract HP:0001396 - Cholestasis HP:0001410 - Decreased liver function HP:0001508 - Failure to thrive HP:0002240 - Hepatomegaly HP:0012024 - Hypergalactosemia HP:0004915 - Impairment of galactose metabolism HP:0006579 - Prolonged neonatal jaundice HP:0100806 - Sepsis
CYP1B1	0.0000		0	0	1	1,890,098	0	1	OMIM:604229 - ANTERIOR SEGMENT DYSGENESIS 5; ASGD5 OMIM:617315 - ANTERIOR SEGMENT DYSGENESIS 6; ASGD6 HP:0011490 - Abnormal Descemet membrane morphology HP:0000593 - Abnormal anterior chamber morphology HP:0000525 - Abnormality iris morphology HP:0011483 - Anterior synechiae of the anterior chamber HP:0000007 - Autosomal recessive inheritance HP:0000557 - Buphthalmos HP:0011493 - Central opacification of the cornea HP:0000603 - Central scotoma HP:0011496 - Corneal neovascularization HP:0007957 - Corneal opacity HP:0001087 - Developmental glaucoma OMIM:231300 - GLAUCOMA 3, PRIMARY CONGENITAL, A; GLC3A OMIM:600975 - GLAUCOMA 3, PRIMARY INFANTILE, B; GLC3B HP:0000501 - Glaucoma HP:0007854 - Glaucomatous visual field defect HP:0011003 - High myopia HP:0012796 - Increased cup-to-disc ratio HP:0003593 - Infantile onset HP:0008041 - Late onset congenital glaucoma HP:0001052 - Nevus flammeus HP:0000639 - Nystagmus HP:0007906 - Ocular hypertension HP:0012108 - Open angle glaucoma HP:0001138 - Optic neuropathy HP:0007994 - Peripheral visual field loss HP:0000659 - Peters anomaly HP:0011484 - Posterior synechiae of the anterior chamber HP:0008007 - Primary congenital glaucoma HP:0025326 - Retinal arterial occlusion HP:0000541 - Retinal detachment HP:0012636 - Retinal vein occlusion HP:0000486 - Strabismus HP:0000523 - Subcapsular cataract HP:0012511 - Temporal optic disc pallor HP:0031159 - Thinning of Descemet membrane HP:0000572 - Visual loss
PKDCC	0.0000		0	0	1	2,048,021	0	1	HP:0000956 - Acanthosis nigricans HP:0002829 - Arthralgia HP:0000007 - Autosomal recessive inheritance HP:0001348 - Brisk reflexes HP:0040024 - Clinodactyly of the 3rd finger HP:0002188 - Delayed CNS myelination HP:0000494 - Downslanted palpebral fissures HP:0001187 - Hyperextensibility of the finger joints HP:0001601 - Laryngomalacia HP:0006467 - Limited shoulder movement HP:0000343 - Long philtrum HP:0000256 - Macrocephaly HP:0000347 - Micrognathia HP:0001513 - Obesity HP:0002999 - Patellar dislocation HP:0001655 - Patent foramen ovale HP:0001357 - Plagiocephaly HP:0001212 - Prominent fingertip pads HP:0011220 - Prominent forehead HP:0000520 - Proptosis HP:0008905 - Rhizomelia HP:0009237 - Short 5th finger HP:0000470 - Short neck HP:0009778 - Short thumb HP:0000954 - Single transverse palmar crease HP:0000319 - Smooth philtrum HP:0012623 - Stage 1 chronic kidney disease HP:0000431 - Wide nasal bridge
HAAO	0.0000		0	0	1	2,767,089	0	1	HP:0010305 - Absence of the sacrum HP:0001650 - Aortic valve stenosis HP:0001631 - Atrial septal defect HP:0000007 - Autosomal recessive inheritance HP:0000193 - Bifid uvula HP:0003316 - Butterfly vertebrae HP:0001263 - Global developmental delay HP:0004383 - Hypoplastic left heart HP:0004590 - Hypoplastic sacrum HP:0001249 - Intellectual disability HP:0005950 - Laryngeal web HP:0008755 - Laryngotracheomalacia HP:0000252 - Microcephaly HP:0001718 - Mitral stenosis HP:0000089 - Renal hypoplasia HP:0000407 - Sensorineural hearing impairment HP:0004322 - Short stature HP:0010301 - Spinal dysraphism HP:0001883 - Talipes HP:0002144 - Tethered cord HP:0000076 - Vesicoureteral reflux
EIF2AK2	0.0176		0	0	1	2,842,478	0	1	HP:0001608 - Abnormality of the voice HP:0001344 - Absent speech HP:0000006 - Autosomal dominant inheritance HP:0002607 - Bowel incontinence HP:0002067 - Bradykinesia HP:0002059 - Cerebral atrophy HP:0001266 - Choreoathetosis HP:0002188 - Delayed CNS myelination HP:0001260 - Dysarthria HP:0001332 - Dystonia HP:0002066 - Gait ataxia HP:0001288 - Gait disturbance HP:0002578 - Gastroparesis HP:0002599 - Head titubation HP:0100248 - Hemiballismus HP:0001276 - Hypertonia HP:0002079 - Hypoplasia of the corpus callosum HP:0001252 - Hypotonia HP:0002540 - Inability to walk HP:0000298 - Mask-like facies HP:0000252 - Microcephaly HP:0001336 - Myoclonus HP:0001300 - Parkinsonism HP:0002126 - Polymicrogyria HP:0002063 - Rigidity HP:0001250 - Seizure HP:0001257 - Spasticity HP:0002078 - Truncal ataxia HP:0000020 - Urinary incontinence
SOS1-IT1			0	0	0	1,006,143	0	0	No associated phenotypes
ARHGEF33	0.0000		0	0	0	1,024,546	0	0	No associated phenotypes
RN7SL96P			0	0	0	1,062,842	0	0	No associated phenotypes
MORN2	0.1534		0	0	0	1,070,928	0	0	No associated phenotypes
RNU6-851P			0	0	0	1,115,334	0	0	No associated phenotypes
DHX57	0.0000	0	0	0	0	1,124,066	0	0	No associated phenotypes
HNRNPA1P57			0	0	0	1,143,780	0	0	No associated phenotypes
ASS1P2			0	0	0	1,188,346	0	0	No associated phenotypes
GEMIN6	0.0001		0	0	0	1,214,998	0	0	No associated phenotypes
NPLP1			0	0	0	1,229,876	0	0	No associated phenotypes
TTC39DP			0	0	0	1,234,779	0	0	No associated phenotypes
SRSF7	0.9820		0	0	0	1,248,506	0	0	No associated phenotypes
HNRNPLL	0.9191		0	0	0	1,396,414	0	0	No associated phenotypes
LINC02613			0	0	0	1,484,066	0	0	No associated phenotypes
RPLP0P6			0	0	0	1,517,196	0	0	No associated phenotypes
LINC01883			0	0	0	1,566,427	0	0	No associated phenotypes
ATL2	0.0118		0	0	0	1,622,715	0	0	No associated phenotypes
GAPDHP25			0	0	0	1,713,590	0	0	No associated phenotypes
RPL7P12			0	0	0	1,767,683	0	0	No associated phenotypes
CYP1B1-AS1			0	0	0	1,768,349	0	0	No associated phenotypes
LDHAP3			0	0	0	1,819,747	0	0	No associated phenotypes
RPS12P4			0	0	0	1,850,203	0	0	No associated phenotypes
RNU6-951P			0	0	0	1,852,479	0	0	No associated phenotypes
LINC01913			0	0	0	1,860,155	0	0	No associated phenotypes
RNU4-63P			0	0	0	1,871,271	0	0	No associated phenotypes
LINC01914			0	0	0	1,931,599	0	0	No associated phenotypes
RMDN2	0.0000		0	0	0	1,932,858	0	0	No associated phenotypes
RMDN2-AS1			0	0	0	1,932,959	0	0	No associated phenotypes
C2ORF91	0.0009		0	0	0	1,935,368	0	0	No associated phenotypes
LINC00211			0	0	0	2,123,726	0	0	No associated phenotypes
EML4-AS1			0	0	0	2,143,238	0	0	No associated phenotypes
EML4	0.0005		0	0	0	2,169,353	0	0	No associated phenotypes
CDC42EP3	0.1856		0	0	0	2,261,532	0	0	No associated phenotypes
COX7A2L	0.0000		0	0	0	2,333,546	0	0	No associated phenotypes
KCNG3	0.2717		0	0	0	2,442,017	0	0	No associated phenotypes
VDAC1P13			0	0	0	2,463,139	0	0	No associated phenotypes
RPS13P3			0	0	0	2,469,817	0	0	No associated phenotypes
MTA3	0.0344		0	0	0	2,494,569	0	0	No associated phenotypes
RNU6-1116P			0	0	0	2,564,392	0	0	No associated phenotypes
QPCT	0.0000		0	0	0	2,626,678	0	0	No associated phenotypes
RNU6-939P			0	0	0	2,668,124	0	0	No associated phenotypes
PRKD3	0.0053		0	0	0	2,675,167	0	0	No associated phenotypes
	0.0551		0	0	0	2,680,088	0	0	No associated phenotypes
RNU6-137P			0	0	0	2,712,740	0	0	No associated phenotypes
NDUFAF7	0.0000		0	0	0	2,746,597	0	0	No associated phenotypes
OXER1	0.0000		0	0	0	2,762,481	0	0	No associated phenotypes
CEBPZ	0.0000		0	0	0	2,768,404	0	0	No associated phenotypes
CEBPZOS	0.0105		0	0	0	2,783,807	0	0	No associated phenotypes
FTOP1			0	0	0	2,797,225	0	0	No associated phenotypes
SULT6B1	0.0000		0	0	0	2,803,402	0	0	No associated phenotypes
RPL31P16			0	0	0	2,805,263	0	0	No associated phenotypes
CHORDC1P1			0	0	0	2,826,322	0	0	No associated phenotypes
ARL14EPP1			0	0	0	2,850,696	0	0	No associated phenotypes
GPATCH11	0.0000		0	0	0	2,900,756	0	0	No associated phenotypes
HEATR5B	0.0000		0	0	0	2,915,628	0	0	No associated phenotypes